Prior Research Publications
The Rare Diseases Clinical Research Network was established in 2003 by the National Institutes of Health (NIH). Through five grant cycles, the RDCRN has funded significant research into many rare diseases conducted by multiple research teams. Listed below are scientific publications published by consortia funded in previous grant cycles:
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Vargas-Gonzalez JC, Dimal N, Cortez K, Heuer H, Forsberg LK, Appleby BS, Barmada S, Bozoki A, Clark D, Cobigo Y, Darby RR, Dickerson BC, Domoto-Reilly K, Galasko DR, Geschwind DH, Ghoshal N, Graff-Radford NR, Grant IM, Irwin D, Hsiung GR, Honig LS, Kantarci K, Léger GC, Litvan I, Mackenzie IR, Masdeu JC, Mendez MF, Onyike CU, Pascual B, Pressman P, Ramos EM, Roberson ED, Rogalski E, Boeve BF, Boxer AL, Rosen HJ, Tartaglia MC; ALLFTD Consortium Investigators. Psychotropic medication usage in sporadic versus genetic behavioral-variant frontotemporal dementia. Alzheimers Dement. 2025 Feb;21(2):e14448. doi: 10.1002/alz.14448. Epub 2024 Dec 23.
Taylor B, Bocchetta M, Shand C, Todd EG, Chokesuwattanaskul A, Crutch SJ, Warren JD, Rohrer JD, Hardy CJD, Oxtoby NP. Data-driven neuroanatomical subtypes of primary progressive aphasia. Brain. 2025 Mar 6;148(3):955-968. doi: 10.1093/brain/awae314.
Ramanan S, Akarca D, Henderson SK, Rouse MA, Allinson K, Patterson K, Rowe JB, Lambon Ralph MA. The graded multidimensional geometry of phenotypic variation and progression in neurodegenerative syndromes. Brain. 2025 Feb 3;148(2):448-466. doi: 10.1093/brain/awae233.
Clelland CD, Fan L, Saloner R, Etchegaray JI, Altobelli CR, Salomonsson S, Maltos AM, Sachdev A, Zhu J, Lee SI, Li Y, Zhou Y, Le D, Wang C, Carling G, Kodama L, Sayed F, Perez-Bermejo JA, Geier EG, Yokoyama JS, Rosen H, Nana AL, Spina S, Grinberg LT, Seeley WW, Elahi F, Boxer AL, Arkin MR, Gan L. Opposing role of phagocytic receptors MERTK and AXL in Progranulin deficient FTD. Commun Biol. 2025 Jul 1;8(1):971. doi: 10.1038/s42003-025-08368-2.
Saloner R, Staffaroni AM, Dammer EB, Johnson ECB, Paolillo EW, Wise A, Heuer HW, Forsberg LK, Lario-Lago A, Webb JD, Vogel JW, Santillo AF, Hansson O, Kramer JH, Miller BL, Li J, Loureiro J, Sivasankaran R, Worringer KA, Seyfried NT, Yokoyama JS, Spina S, Grinberg LT, Seeley WW, VandeVrede L, Ljubenkov PA, Bayram E, Bozoki A, Brushaber D, Considine CM, Day GS, Dickerson BC, Domoto-Reilly K, Faber K, Galasko DR, Gendron T, Geschwind DH, Ghoshal N, Graff-Radford N, Hales CM, Honig LS, Hsiung GR, Huey ED, Kornak J, Kremers W, Lapid MI, Lee SE, Litvan I, McMillan CT, Mendez MF, Miyagawa T, Pantelyat A, Pascual B, Masdeu J, Paulson HL, Petrucelli L, Pressman P, Rademakers R, Ramos EM, Rascovsky K, Roberson ED, Savica R, Snyder A, Sullivan AC, Tartaglia MC, Vandebergh M, Boeve BF, Rosen HJ, Rojas JC, Boxer AL, Casaletto KB; ALLFTD Consortium. Large-scale network analysis of the cerebrospinal fluid proteome identifies molecular signatures of frontotemporal lobar degeneration. Nat Aging. 2025 Jun;5(6):1143-1158. doi: 10.1038/s43587-025-00878-2. Epub 2025 May 16.
Pottier C, Küçükali F, Baker M, Batzler A, Jenkins GD, van Blitterswijk M, Vicente CT, De Coster W, Wynants S, Van de Walle P, Ross OA, Murray ME, Faura J, Haggarty SJ, van Rooij JG, Mol MO, Hsiung GR, Graff C, Öijerstedt L, Neumann M, Asmann Y, McDonnell SK, Baheti S, Josephs KA, Whitwell JL, Bieniek KF, Forsberg L, Heuer H, Lago AL, Geier EG, Yokoyama JS, Oddi AP, Flanagan M, Mao Q, Hodges JR, Kwok JB, Domoto-Reilly K, Synofzik M, Wilke C, Onyike C, Dickerson BC, Evers BM, Dugger BN, Munoz DG, Keith J, Zinman L, Rogaeva E, Suh E, Gefen T, Geula C, Weintraub S, Diehl-Schmid J, Farlow MR, Edbauer D, Woodruff BK, Caselli RJ, Donker Kaat LL, Huey ED, Reiman EM, Mead S, King A, Roeber S, Nana AL, Ertekin-Taner N, Knopman DS, Petersen RC, Petrucelli L, Uitti RJ, Wszolek ZK, Ramos EM, Grinberg LT, Tempini MLG, Rosen HJ, Spina S, Piguet O, Grossman M, Trojanowski JQ, Keene CD, Jin LW, Prudlo J, Geschwind DH, Rissman RA, Cruchaga C, Ghetti B, Halliday GM, Beach TG, Serrano GE, Arzberger T, Herms J, Boxer AL, Honig LS, Vonsattel JP, Lopez OL, Kofler J, White CL 3rd, Gearing M, Glass J, Rohrer JD, Irwin DJ, Lee EB, et al. Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing. Nat Commun. 2025 Apr 25;16(1):3914. doi: 10.1038/s41467-025-59216-0.
Liu X, de Boer SCM, Cortez K, Poos JM, Illán-Gala I, Heuer H, Forsberg LK, Casaletto K, Memel M, Appleby BS, Barmada S, Bozoki A, Clark D, Cobigo Y, Darby R, Dickerson BC, Domoto-Reilly K, Galasko DR, Geschwind DH, Ghoshal N, Graff-Radford NR, Grant IM, Hsiung GR, Honig LS, Huey ED, Irwin D, Kantarci K, Léger GC, Litvan I, Mackenzie IR, Masdeu JC, Mendez MF, Onyike CU, Pascual B, Pressman P, Bayram E, Ramos EM, Roberson ED, Rogalski E, Bouzigues A, Russell LL, Foster PH, Ferry-Bolder E, Masellis M, van Swieten J, Jiskoot L, Seelaar H, Sanchez-Valle R, Laforce R, Graff C, Galimberti D, Vandenberghe R, de Mendonça A, Tiraboschi P, Santana I, Gerhard A, Levin J, Sorbi S, Otto M, Pasquier F, Ducharme S, Butler CR, Ber IL, Finger E, Rowe JB, Synofzik M, Moreno F, Borroni B, Boeve BF, Boxer AL, Rosen HJ, Pijnenburg YAL, Rohrer JD, Tartaglia MC; ALLFTD Consortium and the GENFI Consortium. Sex differences in clinical phenotypes of behavioral variant frontotemporal dementia. Alzheimers Dement. 2025 Apr;21(4):e14608. doi: 10.1002/alz.14608.
Memel M, Staffaroni AM, Ilan-Gala I, Castro JG, Kornak J, Tartaglia CM, Saloner R, VandeBunte AM, Paolillo EW, Cadwallader CJ, Chen C, Gorno-Tempini ML, Mandelli M, Apostolova L, Graff-Radford N, Litvan I, Bayram E, Pressman PS, Miyagawa T, Mackenzie I, Goldman J, Darby RR, Appleby BS, Petrucelli L, Gendron T, Heuer HW, Forseberg LK, Rojas JC, Boeve BF, Brushaber N, Domoto-Reilly K, Ghoshal N, Lapid M, Pascual B, Lee S, Ramos EM, Ramanan V, Rademakers R, Rascovsky K, Pantelyat A, Masdeu JC, Snyder A, Boxer AL, Rosen HJ, Casaletto K; ALLFTD Consortium. Sex differences in the clinical manifestation of autosomal dominant frontotemporal dementia. Alzheimers Dement. 2025 Apr;21(4):e14630. doi: 10.1002/alz.14630.
Sanderson-Cimino M, Gross AL, Gaynor LS, Paolillo EW, Saloner R, Albert MS, Apostolova FG, Boersema B, Boxer AL, Boeve BF, Casaletto KB, Hallgarth SR, Diaz VE, Clark LR, Maillard P, Eloyan A, Farias ST, Gonzales MM, Hammers DB, Joie R, Cobigo Y, Wolf A, Hampstead BM, Mechanic-Hamilton D, Miller BL, Rabinovici GD, Ringman JM, Rosen HJ, Ryman SG, Prestopnik JL, Salmon DP, Smith GE, DeCarli C, Rajan KB, Jin LW, Hinman J, Johnson DK, Harvey D, Fornage M, Kramer JH, Staffaroni AM. Development and validation of a harmonized memory score for multicenter Alzheimer's disease and related dementia research. medRxiv. 2025 Apr 3:2025.03.31.25324964. doi: 10.1101/2025.03.31.25324964.
Sheth U, Öijerstedt L, Heckman MG, White LJ, Heuer HW, Lario Lago A, Forsberg LK, Faber KM, Foroud TM, Rademakers R, Ramos EM, Appleby BS, Bozoki AC, Darby RR, Dickerson BC, Domoto-Reilly K, Galasko DR, Ghoshal N, Graff-Radford NR, Grant IM, Hales CM, Hsiung GR, Huey ED, Irwin D, Kwan JY, Litvan I, Mackenzie IR, Masdeu JC, Mendez MF, Onyike CU, Pascual B, Pressman PS, Roberson ED, Snyder A, Tartaglia MC, Seeley WW, Dickson DW, Rosen HJ, Boeve BF, Boxer AL, Petrucelli L, Gendron TF. Comprehensive cross-sectional and longitudinal comparisons of plasma glial fibrillary acidic protein and neurofilament light across FTD spectrum disorders. Mol Neurodegener. 2025 Mar 12;20(1):30. doi: 10.1186/s13024-025-00821-4.
Morrow CB, Kamath V, Dickerson BC, Eldaief M, Rezaii N, Wong B, McGinnis S, Darby R, Staffaroni AM, Lapid MI, Pascual B, Rojas JC, Masdeu JC, Tsapkini K, Huey ED, Fisher DW, Pantelyat A, Balaji A, Sah E, Litvan I, Rascovsky K, Ghoshal N, Domoto-Reilly K, Kornak J, Onyike CU; ALLFTD Consortium. Neuropsychiatric symptoms cluster and fluctuate over time in behavioral variant frontotemporal dementia. Psychiatry Clin Neurosci. 2025 Jun;79(6):327-335. doi: 10.1111/pcn.13810. Epub 2025 Mar 13.
Coulborn S, Schafer R, Roy ARK, Sokolowski A, Cryns NG, Leichter D, Lago AL, Ramos EM, Cobigo Y, Spina S, Grinberg LT, Geschwind DH, Gorno-Tempini ML, Kramer JH, Rosen HJ, Miller BL, Seeley WW, Perry DC. Clinical and Imaging Features of Sporadic and Genetic Frontotemporal Lobar Degeneration TDP-43 A and B. Ann Clin Transl Neurol. 2025 May;12(5):947-957. doi: 10.1002/acn3.70014. Epub 2025 Mar 10.
Rajbanshi B, Prufer Q C Araujo I, VandeVrede L, Ljubenkov PA, Staffaroni AM, Heuer HW, Lario Lago A, Ramos EM, Petrucelli L, Gendron T, Dage JL, Seeley WW, Grinberg LT, Spina S, Bateman RJ, Rosen HJ, Boeve BF, Boxer AL, Rojas JC; ALLFTD Consortium. Clinical and neuropathological associations of plasma Aβ(42)/Aβ(40), p-tau217 and neurofilament light in sporadic frontotemporal dementia spectrum disorders. Alzheimers Dement (Amst). 2025 Jan 29;17(1):e70078. doi: 10.1002/dad2.70078. eCollection 2025 Jan-Mar.
Casaletto KB, Saloner R, Kornak J, Staffaroni AM, Villeda S, Paolillo E, VandeBunte AM, Cadwallader CJ, Lario Lago A, Webb J, Chen C, Rascovsky K, Miyagawa T, Ramos EM, Masdeu JC, Pantelyat A, Tartaglia MC, Bozoki A, Pressman PS, Rademakers R, Kremers W, Darby R, Younes K, Pascual B, Ghoshal N, Lapid M, Mackenzie IRA, Li J, Hsiung GR, Hall JN, Yutsis MV, Litvan I, Henderson VW, Sivasankaran R, Worringer K, Domoto-Reilly K, Synder A, Loureiro J, Kramer JH, Heuer H, Forsberg LK, Rosen HJ, Boeve B, Rojas JC, Boxer AL. Brain aging rejuvenation factors in adults with genetic and sporadic neurodegenerative disease. Brain Commun. 2025 Jan 15;7(1):fcae432. doi: 10.1093/braincomms/fcae432. eCollection 2025.
Chen Y, Spina S, Callahan P, Grinberg LT, Seeley WW, Rosen HJ, Kramer JH, Miller BL, Rankin KP. Pathology-specific patterns of cerebellar atrophy in neurodegenerative disorders. Alzheimers Dement. 2024 Mar;20(3):1771-1783. doi: 10.1002/alz.13551. Epub 2023 Dec 18.
Corriveau-Lecavalier N, Tosakulwong N, Lesnick TG, Fought AJ, Reid RI, Schwarz CG, Senjem ML, Jack CR Jr, Jones DT, Vemuri P, Rademakers R, Ramos EM, Geschwind DH, Knopman DS, Botha H, Savica R, Graff-Radford J, Ramanan VK, Fields JA, Graff-Radford N, Wszolek Z, Forsberg LK, Petersen RC, Heuer HW, Boxer AL, Rosen HJ, Boeve BF, Kantarci K; ALLFTD consortium. Neurite-based white matter alterations in MAPT mutation carriers: A multi-shell diffusion MRI study in the ALLFTD consortium. Neurobiol Aging. 2024 Feb;134:135-145. doi: 10.1016/j.neurobiolaging.2023.12.001. Epub 2023 Dec 10.
Bowles KR, Pedicone C, Pugh DA, Oja LM, Sousa FH, Keavey LK, Fulton-Howard B, Weitzman SA, Liu Y, Chen JL, Disney MD, Goate AM. Development of MAPT S305 mutation human iPSC lines exhibiting elevated 4R tau expression and functional alterations in neurons and astrocytes. Cell Rep. 2024 Dec 24;43(12):115013. doi: 10.1016/j.celrep.2024.115013. Epub 2024 Nov 27.
Nuytemans K, Franzen S, Broce IJ, Caramelli P, Ellajosyula R, Finger E, Gupta V, Gupta V, Illán-Gala I, Loi SM, Morhardt D, Pijnenburg Y, Rascovsky K, Williams MM, Yokoyama JS, Acosta-Uribe J, Akinyemi R, Alladi S, Ayele BA, Ayhan Y, Bourdage R, Castro-Suarez S, de Souza LC, Dacks P, de Boer SCM, de Leon J, Dodge S, Grasso S, Ghoshal N, Kamath V, Kumfor F, Matias-Guiu JA, Narme P, Nielsen TR, Okhuevbie D, Piña-Escudero S, Ruiz-Garcia R, Ryan B, Scarioni M, Slachevsky A, Suarez-Gonzalez A, Tee BL, Tsoy E, Ulugut H, Onyike CU, Babulal GM; ISTAART Frontotemporal Dementia and Related Disorders PIA, ISTAART Diversity and Disparities PIA. Gaps in biomedical research in frontotemporal dementia: A call for diversity and disparities focused research. Alzheimers Dement. 2024 Dec;20(12):9014-9036. doi: 10.1002/alz.14312. Epub 2024 Nov 13.
Yadollahikhales G, Mandelli ML, Ezzes Z, Pillai J, Ratnasiri B, Baquirin DP, Miller Z, de Leon J, Tee BL, Seeley W, Rosen H, Miller B, Kramer J, Sturm V, Gorno-Tempini ML, Montembeault M. Perceptual and semantic deficits in face recognition in semantic dementia. Neuropsychologia. 2024 Dec 15;205:109020. doi: 10.1016/j.neuropsychologia.2024.109020. Epub 2024 Oct 22.
Gaynor LS, Yadollahikhales G, Tsoy E, Hall M, Boxer AL, Miller BL, Grinberg LT. C9orf72 Repeat Expansion Initially Presenting as Late-Onset Bipolar Disorder With Psychosis. Neurologist. 2024 Mar 1;29(2):109-112. doi: 10.1097/NRL.0000000000000527.
VandeBunte AM, Lee H, Paolillo EW, Hsiung GR, Staffaroni AM, Saloner R, Tartaglia C, Yaffe K, Knopman DS, Ramos EM, Rascovsky K, Bozoki AC, Wong B, Domoto-Reilly K, Snyder A, Pressman P, Mendez MF, Litvan I, Fields JA, Galasko DR, Darby R, Masdeu JC, Pasqual MB, Honig LS, Ghoshal N, Appleby BS, Mackenzie IR, Heuer HW, Kramer JH, Boxer AL, Forsberg LK, Boeve B, Rosen HJ, Casaletto KB; ALLFTD Consortium. Better cardiovascular health is associated with slowed clinical progression in autosomal dominant frontotemporal lobar degeneration variant carriers. Alzheimers Dement. 2024 Oct;20(10):6820-6833. doi: 10.1002/alz.14172. Epub 2024 Sep 6.
Saloner R, VandeVrede L, Asken BM, Paolillo EW, Gontrum EQ, Wolf A, Lario-Lago A, Milà-Alomà M, Triana-Baltzer G, Kolb HC, Dubal DB, Rabinovici GD, Miller BL, Boxer AL, Casaletto KB, Kramer JH. Plasma phosphorylated tau-217 exhibits sex-specific prognostication of cognitive decline and brain atrophy in cognitively unimpaired adults. Alzheimers Dement. 2024 Jan;20(1):376-387. doi: 10.1002/alz.13454. Epub 2023 Aug 28.
Paolillo EW, Casaletto KB, Clark AL, Taylor JC, Heuer HW, Wise AB, Dhanam S, Sanderson-Cimino M, Saloner R, Kramer JH, Kornak J, Kremers W, Forsberg L, Appleby B, Bayram E, Bozoki A, Brushaber D, Darby RR, Day GS, Dickerson BC, Domoto-Reilly K, Elahi F, Fields JA, Ghoshal N, Graff-Radford N, G H Hall M, Honig LS, Huey ED, Lapid MI, Litvan I, Mackenzie IR, Masdeu JC, Mendez MF, Mester C, Miyagawa T, Naasan G, Pascual B, Pressman P, Ramos EM, Rankin KP, Rexach J, Rojas JC, VandeVrede L, Wong B, Wszolek ZK, Boeve BF, Rosen HJ, Boxer AL, Staffaroni AM; ALLFTD Consortium. Examining Associations Between Smartphone Use and Clinical Severity in Frontotemporal Dementia: Proof-of-Concept Study. JMIR Aging. 2024 Jun 26;7:e52831. doi: 10.2196/52831.
Pressman PS, Carter DJ, Ramos EM, Molden J, Smith K, Dino F, McMillan C, Irwin D, Rascovsky K, Ghoshal N, Knudtson M, Rademakers R, Geschwind D, Gendron T, Petrucelli L, Heuer H, Boeve BF, Barmada S, Boxer A, Tempini MLG, Rosen HJ. Symptomatic progression of frontotemporal dementia with the TARDBP I383V variant. Neurocase. 2024 Feb;30(1):39-47. doi: 10.1080/13554794.2024.2354540. Epub 2024 May 17.
Vandebergh M, Ramos EM, Corriveau-Lecavalier N, Ramanan VK, Kornak J, Mester C, Kolander T, Brushaber D, Staffaroni AM, Geschwind D, Wolf A, Kantarci K, Gendron TF, Petrucelli L, Van den Broeck M, Wynants S, Baker MC, Borrego-Écija S, Appleby B, Barmada S, Bozoki A, Clark D, Darby RR, Dickerson BC, Domoto-Reilly K, Fields JA, Galasko DR, Ghoshal N, Graff-Radford N, Grant IM, Honig LS, Hsiung GR, Huey ED, Irwin D, Knopman DS, Kwan JY, Léger GC, Litvan I, Masdeu JC, Mendez MF, Onyike C, Pascual B, Pressman P, Ritter A, Roberson ED, Snyder A, Sullivan AC, Tartaglia MC, Wint D, Heuer HW, Forsberg LK, Boxer AL, Rosen HJ, Boeve BF, Rademakers R. Gene specific effects on brain volume and cognition of TMEM106B in frontotemporal lobar degeneration. medRxiv. 2024 Apr 5:2024.04.05.24305253. doi: 10.1101/2024.04.05.24305253.
Saloner R, Staffaroni A, Dammer E, Johnson ECB, Paolillo E, Wise A, Heuer H, Forsberg L, Lago AL, Webb J, Vogel J, Santillo A, Hansson O, Kramer J, Miller B, Li J, Loureiro J, Sivasankaran R, Worringer K, Seyfried N, Yokoyama J, Seeley W, Spina S, Grinberg L, VandeVrede L, Ljubenkov P, Bayram E, Bozoki A, Brushaber D, Considine C, Day G, Dickerson B, Domoto-Reilly K, Faber K, Galasko D, Geschwind D, Ghoshal N, Graff-Radford N, Hales C, Honig L, Hsiung GY, Huey E, Kornak J, Kremers W, Lapid M, Lee S, Litvan I, McMillan C, Mendez M, Miyagawa T, Pantelyat A, Pascual B, Paulson H, Petrucelli L, Pressman P, Ramos E, Rascovsky K, Roberson E, Savica R, Snyder A, Sullivan AC, Tartaglia C, Vandebergh M, Boeve B, Rosen H, Rojas J, Boxer A, Casaletto K. Large-scale network analysis of the cerebrospinal fluid proteome identifies molecular signatures of frontotemporal lobar degeneration. Res Sq. 2024 Mar 28:rs.3.rs-4103685. doi: 10.21203/rs.3.rs-4103685/v1.
Staffaroni AM, Clark AL, Taylor JC, Heuer HW, Sanderson-Cimino M, Wise AB, Dhanam S, Cobigo Y, Wolf A, Manoochehri M, Forsberg L, Mester C, Rankin KP, Appleby BS, Bayram E, Bozoki A, Clark D, Darby RR, Domoto-Reilly K, Fields JA, Galasko D, Geschwind D, Ghoshal N, Graff-Radford N, Grossman M, Hsiung GY, Huey ED, Jones DT, Lapid MI, Litvan I, Masdeu JC, Massimo L, Mendez MF, Miyagawa T, Pascual B, Pressman P, Ramanan VK, Ramos EM, Rascovsky K, Roberson ED, Tartaglia MC, Wong B, Miller BL, Kornak J, Kremers W, Hassenstab J, Kramer JH, Boeve BF, Rosen HJ, Boxer AL; ALLFTD Consortium. Reliability and Validity of Smartphone Cognitive Testing for Frontotemporal Lobar Degeneration. JAMA Netw Open. 2024 Apr 1;7(4):e244266. doi: 10.1001/jamanetworkopen.2024.4266.
Logan T, Simon MJ, Rana A, Cherf GM, Srivastava A, Davis SS, Yoon Low RL, Chiu CL, Fang M, Huang F, Bhalla A, Llapashtica C, Prorok R, Pizzo ME, Calvert MEK, Sun EW, Hsiao-Nakamoto J, Rajendra Y, Lexa KW, Srivastava DB, van Lengerich B, Wang J, Robles-Colmenares Y, Kim DJ, Duque J, Lenser M, Earr TK, Nguyen H, Chau R, Tsogtbaatar B, Ravi R, Skuja LL, Solanoy H, Rosen HJ, Boeve BF, Boxer AL, Heuer HW, Dennis MS, Kariolis MS, Monroe KM, Przybyla L, Sanchez PE, Meisner R, Diaz D, Henne KR, Watts RJ, Henry AG, Gunasekaran K, Astarita G, Suh JH, Lewcock JW, DeVos SL, Di Paolo G. Rescue of a lysosomal storage disorder caused by Grn loss of function with a brain penetrant progranulin biologic. Cell. 2024 Mar 14;187(6):1565-1566. doi: 10.1016/j.cell.2024.02.015.
Hsiao-Nakamoto J, Chiu CL, VandeVrede L, Ravi R, Vandenberg B, De Groot J, Tsogtbaatar B, Fang M, Auger P, Gould NS, Marchioni F, Powers CA, Davis SS, Suh JH, Alkabsh J, Heuer HW, Lago AL, Scearce-Levie K, Seeley WW, Boeve BF, Rosen HJ, Berger A, Tsai R, Di Paolo G, Boxer AL, Bhalla A, Huang F; ALLFTD Consortium. Alterations in Lysosomal, Glial and Neurodegenerative Biomarkers in Patients with Sporadic and Genetic Forms of Frontotemporal Dementia. bioRxiv. 2024 Feb 12:2024.02.09.579529. doi: 10.1101/2024.02.09.579529.
Mooney AR, Bravo M, Roberts A, Salley E, Blaze E, Esparza M, Fried-Oken M, Khayum B, Rao L, Rademaker A, Rogalski E. Use and Perceived Effectiveness of Communication Modes Reported by Persons With Primary Progressive Aphasia. Am J Speech Lang Pathol. 2023 Jan 11;32(1):298-305. doi: 10.1044/2022_AJSLP-21-00386. Epub 2022 Dec 6.
Casaletto KB, Kornack J, Paolillo EW, Rojas JC, VandeBunte A, Staffaroni AS, Lee S, Heuer H, Forsberg L, Ramos EM, Miller BL, Kramer JH, Yaffe K, Petrucelli L, Boxer A, Boeve B, Gendron TF, Rosen H; ALLFTD Consortium. Association of Physical Activity With Neurofilament Light Chain Trajectories in Autosomal Dominant Frontotemporal Lobar Degeneration Variant Carriers. JAMA Neurol. 2023 Jan 1;80(1):82-90. doi: 10.1001/jamaneurol.2022.4178.
Tafuri B, Urso D, Nigro S, Macchitella L, De Blasi R, Ray Chaudhuri K, Logroscino G. Grey-matter correlates of empathy in 4-Repeat Tauopathies. NPJ Parkinsons Dis. 2023 Sep 27;9(1):138. doi: 10.1038/s41531-023-00576-z.
Paslawski W, Khosousi S, Hertz E, Markaki I, Boxer A, Svenningsson P. Large-scale proximity extension assay reveals CSF midkine and DOPA decarboxylase as supportive diagnostic biomarkers for Parkinson's disease. Transl Neurodegener. 2023 Sep 4;12(1):42. doi: 10.1186/s40035-023-00374-w.
Gasca-Salas C, Duff-Canning S, McArthur E, Armstrong MJ, Fox S, Meaney CA, Tang-Wai DF, Gill D, Eslinger PJ, Zadikoff C, Marshall FJ, Mapstone M, Chou KL, Persad C, Litvan I, Mast BT, Gerstenecker AT, Weintraub S, Marras C. Predictors of Cognitive Change in Parkinson Disease: A 2-year Follow-up Study. Alzheimer Dis Assoc Disord. 2023 Oct-Dec 01;37(4):335-342. doi: 10.1097/WAD.0000000000000576. Epub 2023 Aug 22.
García AM, de Leon J, Tee BL, Blasi DE, Gorno-Tempini ML. Speech and language markers of neurodegeneration: a call for global equity. Brain. 2023 Dec 1;146(12):4870-4879. doi: 10.1093/brain/awad253.
Zhang L, Flagan TM, Häkkinen S, Chu SA, Brown JA, Lee AJ, Pasquini L, Mandelli ML, Gorno-Tempini ML, Sturm VE, Yokoyama JS, Appleby BS, Cobigo Y, Dickerson BC, Domoto-Reilly K, Geschwind DH, Ghoshal N, Graff-Radford NR, Grossman M, Hsiung GR, Huey ED, Kantarci K, Lario Lago A, Litvan I, Mackenzie IR, Mendez MF, Onyike CU, Ramos EM, Roberson ED, Tartaglia MC, Toga AW, Weintraub S, Wszolek ZK, Forsberg LK, Heuer HW, Boeve BF, Boxer AL, Rosen HJ, Miller BL, Seeley WW, Lee SE; ARTFL/LEFFTDS/ALLFTD Consortia. Network Connectivity Alterations across the MAPT Mutation Clinical Spectrum. Ann Neurol. 2023 Oct;94(4):632-646. doi: 10.1002/ana.26738. Epub 2023 Aug 23.
Geraudie A, Pressman PS, Pariente J, Millanski C, Palser ER, Ratnasiri BM, Battistella G, Mandelli ML, Miller ZA, Miller BL, Sturm V, Rankin KP, Gorno-Tempini ML, Montembeault M. Expressive Prosody in Patients With Focal Anterior Temporal Neurodegeneration. Neurology. 2023 Aug 22;101(8):e825-e835. doi: 10.1212/WNL.0000000000207516. Epub 2023 Jul 3.
Engelmeyer JR, Kerr A, Makowski-Woidan BA, Gill NP, Mesulam MM, Weintraub S, Zhang H, Lindquist L, Rogalski EJ. Medical characterization of cognitive SuperAgers: Investigating the medication profile of SuperAgers. J Am Geriatr Soc. 2023 Nov;71(11):3638-3641. doi: 10.1111/jgs.18496. Epub 2023 Jul 3.
Bowles KR, Pugh DA, Pedicone C, Oja L, Weitzman SA, Liu Y, Chen JL, Disney MD, Goate AM. Development of MAPT S305 mutation models exhibiting elevated 4R tau expression, resulting in altered neuronal and astrocytic function. bioRxiv. 2023 Jun 5:2023.06.02.543224. doi: 10.1101/2023.06.02.543224.
Shir D, Pham NTT, Botha H, Koga S, Kouri N, Ali F, Knopman DS, Petersen RC, Boeve BF, Kremers WK, Nguyen AT, Murray ME, Reichard RR, Dickson DW, Graff-Radford N, Josephs KA, Whitwell J, Graff-Radford J. Clinicoradiologic and Neuropathologic Evaluation of Corticobasal Syndrome. Neurology. 2023 Jul 18;101(3):e289-e299. doi: 10.1212/WNL.0000000000207397. Epub 2023 Jun 2.
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Paslawski W, Bergström S, Zhang X, Remnestål J, He Y, Boxer A, Månberg A, Nilsson P, Svenningsson P. Cerebrospinal Fluid Proteins Altered in Corticobasal Degeneration. Mov Disord. 2021 May;36(5):1278-1280. doi: 10.1002/mds.28543. Epub 2021 Mar 4.
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Battistella G, Borghesani V, Henry M, Shwe W, Lauricella M, Miller Z, Deleon J, Miller BL, Dronkers N, Brambati SM, Seeley WW, Mandelli ML, Gorno-Tempini ML. Task-Free Functional Language Networks: Reproducibility and Clinical Application. J Neurosci. 2020 Feb 5;40(6):1311-1320. doi: 10.1523/JNEUROSCI.1485-19.2019. Epub 2019 Dec 18.
Olney NT, Ong E, Goh SM, Bajorek L, Dever R, Staffaroni AM, Cobigo Y, Bock M, Chiang K, Ljubenkov P, Kornak J, Heuer HW, Wang P, Rascovsky K, Wolf A, Appleby B, Bove J, Bordelon Y, Brannelly P, Brushaber D, Caso C, Coppola G, Dickerson BC, Dickinson S, Domoto-Reilly K, Faber K, Ferrall J, Fields J, Fishman A, Fong J, Foroud T, Forsberg LK, Gearhart DJ, Ghazanfari B, Ghoshal N, Goldman J, Graff-Radford J, Graff-Radford NR, Grant I, Grossman M, Haley D, Hsiung G, Huey ED, Irwin DJ, Jones DT, Kantarci K, Karydas AM, Kaufer D, Kerwin D, Knopman DS, Kramer JH, Kraft R, Kremers W, Kukull W, Lapid MI, Litvan I, Mackenzie IR, Maldonado M, Manoochehri M, McGinnis SM, McKinley EC, Mendez MF, Miller BL, Onyike C, Pantelyat A, Pearlman R, Petrucelli L, Potter M, Rademakers R, Ramos EM, Rankin KP, Roberson ED, Rogalski E, Sengdy P, Shaw LM, Syrjanen J, Tartaglia MC, Tatton N, Taylor J, Toga A, Trojanowski JQ, Weintraub S, Wong B, Wszolek Z, Boxer AL, Boeve BF, Rosen HJ; ARTFL and LEFFTDS consortia. Clinical and volumetric changes with increasing functional impairment in familial frontotemporal lobar degeneration. Alzheimers Dement. 2020 Jan;16(1):49-59. doi: 10.1016/j.jalz.2019.08.196. Epub 2020 Jan 6.
Saijo E, Metrick MA 2nd, Koga S, Parchi P, Litvan I, Spina S, Boxer A, Rojas JC, Galasko D, Kraus A, Rossi M, Newell K, Zanusso G, Grinberg LT, Seeley WW, Ghetti B, Dickson DW, Caughey B. Correction to: 4-Repeat tau seeds and templating subtypes as brain and CSF biomarkers of frontotemporal lobar degeneration. Acta Neuropathol. 2020 Jan;139(1):79-81. doi: 10.1007/s00401-019-02092-y.
Tsai RM, Miller Z, Koestler M, Rojas JC, Ljubenkov PA, Rosen HJ, Rabinovici GD, Fagan AM, Cobigo Y, Brown JA, Jung JI, Hare E, Geldmacher DS, Natelson-Love M, McKinley EC, Luong PN, Chuu EL, Powers R, Mumford P, Wolf A, Wang P, Shamloo M, Miller BL, Roberson ED, Boxer AL. Reactions to Multiple Ascending Doses of the Microtubule Stabilizer TPI-287 in Patients With Alzheimer Disease, Progressive Supranuclear Palsy, and Corticobasal Syndrome: A Randomized Clinical Trial. JAMA Neurol. 2020 Feb 1;77(2):215-224. doi: 10.1001/jamaneurol.2019.3812.
Soleimani-Meigooni DN, Iaccarino L, La Joie R, Baker S, Bourakova V, Boxer AL, Edwards L, Eser R, Gorno-Tempini ML, Jagust WJ, Janabi M, Kramer JH, Lesman-Segev OH, Mellinger T, Miller BL, Pham J, Rosen HJ, Spina S, Seeley WW, Strom A, Grinberg LT, Rabinovici GD. 18F-flortaucipir PET to autopsy comparisons in Alzheimer's disease and other neurodegenerative diseases. Brain. 2020 Dec 5;143(11):3477-3494. doi: 10.1093/brain/awaa276.
Ossenkoppele R, Lyoo CH, Sudre CH, van Westen D, Cho H, Ryu YH, Choi JY, Smith R, Strandberg O, Palmqvist S, Westman E, Tsai R, Kramer J, Boxer AL, Gorno-Tempini ML, La Joie R, Miller BL, Rabinovici GD, Hansson O. Distinct tau PET patterns in atrophy-defined subtypes of Alzheimer's disease. Alzheimers Dement. 2020 Feb;16(2):335-344. doi: 10.1016/j.jalz.2019.08.201. Epub 2020 Jan 4.
Boxer AL, Gold M, Feldman H, Boeve BF, Dickinson SL, Fillit H, Ho C, Paul R, Pearlman R, Sutherland M, Verma A, Arneric SP, Alexander BM, Dickerson BC, Dorsey ER, Grossman M, Huey ED, Irizarry MC, Marks WJ, Masellis M, McFarland F, Niehoff D, Onyike CU, Paganoni S, Panzara MA, Rockwood K, Rohrer JD, Rosen H, Schuck RN, Soares HD, Tatton N. New directions in clinical trials for frontotemporal lobar degeneration: Methods and outcome measures. Alzheimers Dement. 2020 Jan;16(1):131-143. doi: 10.1016/j.jalz.2019.06.4956. Epub 2020 Jan 6.
Boeve B, Bove J, Brannelly P, Brushaber D, Coppola G, Dever R, Dheel C, Dickerson B, Dickinson S, Faber K, Fields J, Fong J, Foroud T, Forsberg L, Gavrilova R, Gearhart D, Ghoshal N, Goldman J, Graff-Radford J, Graff-Radford N, Grossman M, Haley D, Heuer H, Hsiung GR, Huey E, Irwin D, Jones D, Jones L, Kantarci K, Karydas A, Knopman D, Kornak J, Kraft R, Kramer J, Kremers W, Kukull W, Lapid M, Lucente D, Mackenzie I, Manoochehri M, McGinnis S, Miller B, Pearlman R, Petrucelli L, Potter M, Rademakers R, Ramos EM, Rankin K, Rascovsky K, Sengdy P, Shaw L, Syrjanen J, Tatton N, Taylor J, Toga A, Trojanowski J, Weintraub S, Wong B, Wszolek Z, Boxer A, Rosen H; LEFFTDS Consortium. The longitudinal evaluation of familial frontotemporal dementia subjects protocol: Framework and methodology. Alzheimers Dement. 2020 Jan;16(1):22-36. doi: 10.1016/j.jalz.2019.06.4947. Epub 2020 Jan 6.
Huang M, Modeste E, Dammer E, Merino P, Taylor G, Duong DM, Deng Q, Holler CJ, Gearing M, Dickson D, Seyfried NT, Kukar T. Network analysis of the progranulin-deficient mouse brain proteome reveals pathogenic mechanisms shared in human frontotemporal dementia caused by GRN mutations. Acta Neuropathol Commun. 2020 Oct 7;8(1):163. doi: 10.1186/s40478-020-01037-x.
Duff K, Randolph C, Boxer AL. Cognitive decline on the Repeatable Battery for the Assessment of Neuropsychological Status in progressive supranuclear palsy. Clin Neuropsychol. 2020 Apr;34(3):529-540. doi: 10.1080/13854046.2019.1670865. Epub 2019 Sep 27.
Asken BM, Elahi FM, La Joie R, Strom A, Staffaroni AM, Lindbergh CA, Apple AC, You M, Weiner-Light S, Brathaban N, Fernandes N, Karydas A, Wang P, Rojas JC, Boxer AL, Miller BL, Rabinovici GD, Kramer JH, Casaletto KB. Plasma Glial Fibrillary Acidic Protein Levels Differ Along the Spectra of Amyloid Burden and Clinical Disease Stage. J Alzheimers Dis. 2020;78(1):265-276. doi: 10.3233/JAD-200755.
Miyagawa T, Brushaber D, Syrjanen J, Kremers W, Fields J, Forsberg LK, Heuer HW, Knopman D, Kornak J, Boxer A, Rosen H, Boeve B; ARTFL/LEFFTDS Consortium. Use of the CDR® plus NACC FTLD in mild FTLD: Data from the ARTFL/LEFFTDS consortium. Alzheimers Dement. 2020 Jan;16(1):79-90. doi: 10.1016/j.jalz.2019.05.013. Epub 2020 Jan 6.
Borghesani V, Battistella G, Mandelli ML, Welch A, Weis E, Younes K, Neuhaus J, Grinberg LT, Seeley WM, Spina S, Miller B, Miller Z, Gorno-Tempini ML. Regional and hemispheric susceptibility of the temporal lobe to FTLD-TDP type C pathology. Neuroimage Clin. 2020;28:102369. doi: 10.1016/j.nicl.2020.102369. Epub 2020 Aug 6.
Gentry MT, Lapid MI, Syrjanen J, Calvert K, Hughes S, Brushaber D, Kremers W, Bove J, Brannelly P, Coppola G, Dheel C, Dickerson B, Dickinson S, Faber K, Fields J, Fong J, Foroud T, Forsberg L, Gavrilova R, Gearhart D, Ghoshal N, Goldman J, Graff-Radford J, Graff-Radford N, Grossman M, Haley D, Heuer H, Hsiung GY, Huey E, Irwin D, Jones D, Jones L, Kantarci K, Karydas A, Knopman D, Kornak J, Kramer J, Kukull W, Lucente D, Lungu C, Mackenzie I, Manoochehri M, McGinnis S, Miller B, Pearlman R, Petrucelli L, Potter M, Rademakers R, Ramos EM, Rankin K, Rascovsky K, Sengdy P, Shaw L, Tatton N, Taylor J, Toga A, Trojanowski J, Weintraub S, Wong B, Wszolek Z, Boeve BF, Boxer A, Rosen H; LEFFTDS Consortium. Quality of life and caregiver burden in familial frontotemporal lobar degeneration: Analyses of symptomatic and asymptomatic individuals within the LEFFTDS cohort. Alzheimers Dement. 2020 Aug;16(8):1115-1124. doi: 10.1002/alz.12095. Epub 2020 Jul 13.
Staffaroni AM, Cobigo Y, Goh SM, Kornak J, Bajorek L, Chiang K, Appleby B, Bove J, Bordelon Y, Brannelly P, Brushaber D, Caso C, Coppola G, Dever R, Dheel C, Dickerson BC, Dickinson S, Dominguez S, Domoto-Reilly K, Faber K, Ferrall J, Fields JA, Fishman A, Fong J, Foroud T, Forsberg LK, Gavrilova R, Gearhart D, Ghazanfari B, Ghoshal N, Goldman J, Graff-Radford J, Graff-Radford N, Grant I, Grossman M, Haley D, Heuer HW, Hsiung GY, Huey ED, Irwin DJ, Jones DT, Jones L, Kantarci K, Karydas A, Kaufer DI, Kerwin DR, Knopman DS, Kraft R, Kramer JH, Kremers WK, Kukull WA, Litvan I, Ljubenkov PA, Lucente D, Lungu C, Mackenzie IR, Maldonado M, Manoochehri M, McGinnis SM, McKinley E, Mendez MF, Miller BL, Multani N, Onyike C, Padmanabhan J, Pantelyat A, Pearlman R, Petrucelli L, Potter M, Rademakers R, Ramos EM, Rankin KP, Rascovsky K, Roberson ED, Rogalski E, Sengdy P, Shaw LM, Syrjanen J, Tartaglia MC, Tatton N, Taylor J, Toga A, Trojanowski JQ, Weintraub S, Wang P, Wong B, Wszolek Z, Boxer AL, Boeve BF, Rosen HJ; ARTFL/LEFFTDS consortium. Individualized atrophy scores predict dementia onset in familial frontotemporal lobar degeneration. Alzheimers Dement. 2020 Jan;16(1):37-48. doi: 10.1016/j.jalz.2019.04.007. Epub 2020 Jan 6.
Coughlin DG, Litvan I. Progressive supranuclear palsy: Advances in diagnosis and management. Parkinsonism Relat Disord. 2020 Apr;73:105-116. doi: 10.1016/j.parkreldis.2020.04.014. Epub 2020 May 25.
Mattsson-Carlgren N, Andersson E, Janelidze S, Ossenkoppele R, Insel P, Strandberg O, Zetterberg H, Rosen HJ, Rabinovici G, Chai X, Blennow K, Dage JL, Stomrud E, Smith R, Palmqvist S, Hansson O. Aβ deposition is associated with increases in soluble and phosphorylated tau that precede a positive Tau PET in Alzheimer's disease. Sci Adv. 2020 Apr 15;6(16):eaaz2387. doi: 10.1126/sciadv.aaz2387. eCollection 2020 Apr.
Toller G, Ranasinghe K, Cobigo Y, Staffaroni A, Appleby B, Brushaber D, Coppola G, Dickerson B, Domoto-Reilly K, Fields J, Fong J, Forsberg L, Ghoshal N, Graff-Radford N, Grossman M, Heuer H, Hsiung GY, Huey E, Irwin D, Kantarci K, Kaufer D, Kerwin D, Knopman D, Kornak J, Kramer J, Litvan I, Mackenzie I, Mendez M, Miller B, Rademakers R, Ramos E, Rascovsky K, Roberson E, Syrjanen J, Tartaglia C, Weintraub S, Boeve B, Boxer A, Rosen H, Rankin K; ARTFL/LEFFTDS Consortium. Revised Self-Monitoring Scale: A potential endpoint for frontotemporal dementia clinical trials. Neurology. 2020 Jun 2;94(22):e2384-e2395. doi: 10.1212/WNL.0000000000009451. Epub 2020 May 5.
Thijssen EH, La Joie R, Wolf A, Strom A, Wang P, Iaccarino L, Bourakova V, Cobigo Y, Heuer H, Spina S, VandeVrede L, Chai X, Proctor NK, Airey DC, Shcherbinin S, Duggan Evans C, Sims JR, Zetterberg H, Blennow K, Karydas AM, Teunissen CE, Kramer JH, Grinberg LT, Seeley WW, Rosen H, Boeve BF, Miller BL, Rabinovici GD, Dage JL, Rojas JC, Boxer AL; Advancing Research and Treatment for Frontotemporal Lobar Degeneration (ARTFL) investigators. Diagnostic value of plasma phosphorylated tau181 in Alzheimer's disease and frontotemporal lobar degeneration. Nat Med. 2020 Mar;26(3):387-397. doi: 10.1038/s41591-020-0762-2. Epub 2020 Mar 2.
Ossenkoppele R, Lyoo CH, Jester-Broms J, Sudre CH, Cho H, Ryu YH, Choi JY, Smith R, Strandberg O, Palmqvist S, Kramer J, Boxer AL, Gorno-Tempini ML, Miller BL, La Joie R, Rabinovici GD, Hansson O. Assessment of Demographic, Genetic, and Imaging Variables Associated With Brain Resilience and Cognitive Resilience to Pathological Tau in Patients With Alzheimer Disease. JAMA Neurol. 2020 May 1;77(5):632-642. doi: 10.1001/jamaneurol.2019.5154.
Chen Q, Boeve BF, Senjem M, Tosakulwong N, Lesnick T, Brushaber D, Dheel C, Fields J, Forsberg L, Gavrilova R, Gearhart D, Graff-Radford J, Graff-Radford N, Jack CR Jr, Jones D, Knopman D, Kremers WK, Lapid M, Rademakers R, Ramos EM, Syrjanen J, Boxer AL, Rosen H, Wszolek ZK, Kantarci K. Trajectory of lobar atrophy in asymptomatic and symptomatic GRN mutation carriers: a longitudinal MRI study. Neurobiol Aging. 2020 Apr;88:42-50. doi: 10.1016/j.neurobiolaging.2019.12.004. Epub 2019 Dec 12.
Casaletto KB, Staffaroni AM, Wolf A, Appleby B, Brushaber D, Coppola G, Dickerson B, Domoto-Reilly K, Elahi FM, Fields J, Fong JC, Forsberg L, Ghoshal N, Graff-Radford N, Grossman M, Heuer HW, Hsiung GY, Huey ED, Irwin D, Kantarci K, Kaufer D, Kerwin D, Knopman D, Kornak J, Kramer JH, Litvan I, Mackenzie IR, Mendez M, Miller B, Rademakers R, Ramos EM, Rascovsky K, Roberson ED, Syrjanen JA, Tartaglia MC, Weintraub S, Boeve B, Boxer AL, Rosen H, Yaffe K; ARTFL/LEFFTDS Study. Active lifestyles moderate clinical outcomes in autosomal dominant frontotemporal degeneration. Alzheimers Dement. 2020 Jan;16(1):91-105. doi: 10.1002/alz.12001.
Staffaroni AM, Bajorek L, Casaletto KB, Cobigo Y, Goh SM, Wolf A, Heuer HW, Elahi FM, Ljubenkov PA, Dever R, Kornak J, Appleby B, Bove J, Bordelon Y, Brannelly P, Brushaber D, Caso C, Coppola G, Dheel C, Dickerson BC, Dickinson S, Dominguez S, Domoto-Reilly K, Faber K, Ferrall J, Fields JA, Fishman A, Fong J, Foroud T, Forsberg LK, Gavrilova R, Gearhart D, Ghazanfari B, Ghoshal N, Goldman J, Graff-Radford J, Graff-Radford N, Grant I, Grossman M, Haley D, Hsiung GY, Huey ED, Irwin DJ, Jones DT, Jones L, Kantarci K, Karydas A, Kaufer DI, Kerwin DR, Knopman DS, Kraft R, Kremers WK, Kukull WA, Litvan I, Lucente D, Lungu C, Mackenzie IR, Maldonado M, Manoochehri M, McGinnis SM, McKinley E, Mendez MF, Miller BL, Multani N, Onyike C, Padmanabhan J, Pantelyat A, Pearlman R, Petrucelli L, Potter M, Rademakers R, Ramos EM, Rankin KP, Rascovsky K, Roberson ED, Rogalski E, Sengdy P, Shaw LM, Syrjanen J, Tartaglia MC, Tatton N, Taylor J, Toga A, Trojanowski JQ, Weintraub S, Wang P, Wong B, Wszolek Z, Boxer AL, Boeve BF, Kramer JH, Rosen HJ; ARTFL/LEFFTDS consortium. Assessment of executive function declines in presymptomatic and mildly symptomatic familial frontotemporal dementia: NIH-EXAMINER as a potential clinical trial endpoint. Alzheimers Dement. 2020 Jan;16(1):11-21. doi: 10.1016/j.jalz.2019.01.012.
Heuer HW, Wang P, Rascovsky K, Wolf A, Appleby B, Bove J, Bordelon Y, Brannelly P, Brushaber DE, Caso C, Coppola G, Dickerson B, Dickinson S, Domoto-Reilly K, Faber K, Ferrall J, Fields J, Fishman A, Fong J, Foroud T, Forsberg LK, Gearhart D, Ghazanfari B, Ghoshal N, Goldman J, Graff-Radford J, Graff-Radford N, Grant I, Grossman M, Haley D, Hsiung GY, Huey E, Irwin D, Jones D, Kantarci K, Karydas A, Kaufer D, Kerwin D, Knopman D, Kornak J, Kramer JH, Kraft R, Kremers WK, Kukull W, Litvan I, Ljubenkov P, Mackenzie IR, Maldonado M, Manoochehri M, McGinnis S, McKinley E, Mendez MF, Miller BL, Onyike C, Pantelyat A, Pearlman R, Petrucelli L, Potter M, Rademakers R, Ramos EM, Rankin KP, Roberson ED, Rogalski E, Sengdy P, Shaw L, Syrjanen J, Tartaglia MC, Tatton N, Taylor J, Toga A, Trojanowski J, Weintraub S, Wong B, Wszolek Z, Boeve BF, Rosen HJ, Boxer AL; ARTFL and LEFFTDS consortia. Comparison of sporadic and familial behavioral variant frontotemporal dementia (FTD) in a North American cohort. Alzheimers Dement. 2020 Jan;16(1):60-70. doi: 10.1002/alz.12046.
Ramos EM, Dokuru DR, Van Berlo V, Wojta K, Wang Q, Huang AY, Deverasetty S, Qin Y, van Blitterswijk M, Jackson J, Appleby B, Bordelon Y, Brannelly P, Brushaber DE, Dickerson B, Dickinson S, Domoto-Reilly K, Faber K, Fields J, Fong J, Foroud T, Forsberg LK, Gavrilova R, Ghoshal N, Goldman J, Graff-Radford J, Graff-Radford N, Grant I, Grossman M, Heuer HW, Hsiung GR, Huey E, Irwin D, Kantarci K, Karydas A, Kaufer D, Kerwin D, Knopman D, Kornak J, Kramer JH, Kremers W, Kukull W, Litvan I, Ljubenkov P, Lungu C, Mackenzie I, Mendez MF, Miller BL, Onyike C, Pantelyat A, Pearlman R, Petrucelli L, Potter M, Rankin KP, Rascovsky K, Roberson ED, Rogalski E, Shaw L, Syrjanen J, Tartaglia MC, Tatton N, Taylor J, Toga A, Trojanowski JQ, Weintraub S, Wong B, Wszolek Z, Rademakers R, Boeve BF, Rosen HJ, Boxer AL; ARTFL/LEFFTDS consortium; Coppola G. Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases. Alzheimers Dement. 2020 Jan;16(1):118-130. doi: 10.1002/alz.12011.
Rosen HJ, Boeve BF, Boxer AL. Tracking disease progression in familial and sporadic frontotemporal lobar degeneration: Recent findings from ARTFL and LEFFTDS. Alzheimers Dement. 2020 Jan;16(1):71-78. doi: 10.1002/alz.12004.
Miyagawa T, Brushaber D, Syrjanen J, Kremers W, Fields J, Forsberg LK, Heuer HW, Knopman D, Kornak J, Boxer A, Rosen HJ, Boeve BF, Appleby B, Bordelon Y, Bove J, Brannelly P, Caso C, Coppola G, Dever R, Dheel C, Dickerson B, Dickinson S, Dominguez S, Domoto-Reilly K, Faber K, Ferrell J, Fishman A, Fong J, Foroud T, Gavrilova R, Gearhart D, Ghazanfari B, Ghoshal N, Goldman JS, Graff-Radford J, Graff-Radford N, Grant I, Grossman M, Haley D, Hsiung R, Huey E, Irwin D, Jones D, Jones L, Kantarci K, Karydas A, Kaufer D, Kerwin D, Kraft R, Kramer J, Kukull W, Litvan I, Lucente D, Lungu C, Mackenzie I, Maldonado M, Manoochehri M, McGinnis S, McKinley E, Mendez MF, Miller B, Multani N, Onyike C, Padmanabhan J, Pantelyat A, Pearlman R, Petrucelli L, Potter M, Rademakers R, Ramos EM, Rankin K, Rascovsky K, Roberson ED, Rogalski E, Sengdy P, Shaw L, Tartaglia MC, Tatton N, Taylor J, Toga A, Trojanowski JQ, Wang P, Weintraub S, Wong B, Wszolek Z. Utility of the global CDR(®) plus NACC FTLD rating and development of scoring rules: Data from the ARTFL/LEFFTDS Consortium. Alzheimers Dement. 2020 Jan;16(1):106-117. doi: 10.1002/alz.12033.
Kornak J, Fields J, Kremers W, Farmer S, Heuer HW, Forsberg L, Brushaber D, Rindels A, Dodge H, Weintraub S, Besser L, Appleby B, Bordelon Y, Bove J, Brannelly P, Caso C, Coppola G, Dever R, Dheel C, Dickerson B, Dickinson S, Dominguez S, Domoto-Reilly K, Faber K, Ferrall J, Fishman A, Fong J, Foroud T, Gavrilova R, Gearhart D, Ghazanfari B, Ghoshal N, Goldman J, Graff-Radford J, Graff-Radford N, Grant IM, Grossman M, Haley D, Hsiao J, Hsiung R, Huey ED, Irwin D, Jones D, Jones L, Kantarci K, Karydas A, Kaufer D, Kerwin D, Knopman D, Kraft R, Kramer J, Kukull W, Lapid M, Litvan I, Ljubenkov P, Lucente D, Lungu C, Mackenzie I, Maldonado M, Manoochehri M, McGinnis S, McKinley E, Mendez M, Miller B, Multani N, Onyike C, Padmanabhan J, Pantelyat A, Pearlman R, Petrucelli L, Potter M, Rademakers R, Ramos EM, Rankin K, Rascovsky K, Roberson ED, Rogalski-Miller E, Sengdy P, Shaw L, Staffaroni AM, Sutherland M, Syrjanen J, Tartaglia C, Tatton N, Taylor J, Toga A, Trojanowski J, Wang P, Wong B, Wszolek Z, Boeve B, Boxer A, Rosen H; ARTFL/LEFFTDS Consortium. Nonlinear Z-score modeling for improved detection of cognitive abnormality. Alzheimers Dement (Amst). 2019 Dec 5;11:797-808. doi: 10.1016/j.dadm.2019.08.003. eCollection 2019 Dec.
Bluett B, Bayram E, Litvan I. The virtual reality of Parkinson's disease freezing of gait: A systematic review. Parkinsonism Relat Disord. 2019 Apr;61:26-33. doi: 10.1016/j.parkreldis.2018.11.013. Epub 2018 Nov 15.
Wang L, Heywood A, Stocks J, Bae J, Ma D, Popuri K, Toga AW, Kantarci K, Younes L, Mackenzie IR, Zhang F, Beg MF, Rosen H; Alzheimer’s Disease Neuroimaging Initiative. Grant Report on PREDICT-ADFTD: Multimodal Imaging Prediction of AD/FTD and Differential Diagnosis. J Psychiatr Brain Sci. 2019;4:e190017. doi: 10.20900/jpbs.20190017. Epub 2019 Oct 30.
Shoeibi A, Litvan I, Juncos JL, Bordelon Y, Riley D, Standaert D, Reich SG, Shprecher D, Hall D, Marras C, Kluger B, Olfati N, Jankovic J. Are the International Parkinson disease and Movement Disorder Society progressive supranuclear palsy (IPMDS-PSP) diagnostic criteria accurate enough to differentiate common PSP phenotypes?. Parkinsonism Relat Disord. 2019 Dec;69:34-39. doi: 10.1016/j.parkreldis.2019.10.012. Epub 2019 Oct 14.
Karch CM, Kao AW, Karydas A, Onanuga K, Martinez R, Argouarch A, Wang C, Huang C, Sohn PD, Bowles KR, Spina S, Silva MC, Marsh JA, Hsu S, Pugh DA, Ghoshal N, Norton J, Huang Y, Lee SE, Seeley WW, Theofilas P, Grinberg LT, Moreno F, McIlroy K, Boeve BF, Cairns NJ, Crary JF, Haggarty SJ, Ichida JK, Kosik KS, Miller BL, Gan L, Goate AM, Temple S; Tau Consortium Stem Cell Group. A Comprehensive Resource for Induced Pluripotent Stem Cells from Patients with Primary Tauopathies. Stem Cell Reports. 2019 Nov 12;13(5):939-955. doi: 10.1016/j.stemcr.2019.09.006. Epub 2019 Oct 17.
Ljubenkov PA, Miller Z, Mumford P, Zhang J, Allen IE, Mitic L, Staffaroni A, Heuer H, Rojas JC, Cobigo Y, Karydas A, Pearlman R, Miller B, Kramer JH, McGrath MS, Rosen HJ, Boxer AL. Peripheral Innate Immune Activation Correlates With Disease Severity in GRN Haploinsufficiency. Front Neurol. 2019 Sep 18;10:1004. doi: 10.3389/fneur.2019.01004. eCollection 2019.
Dickson DW, Baker MC, Jackson JL, DeJesus-Hernandez M, Finch NA, Tian S, Heckman MG, Pottier C, Gendron TF, Murray ME, Ren Y, Reddy JS, Graff-Radford NR, Boeve BF, Petersen RC, Knopman DS, Josephs KA, Petrucelli L, Oskarsson B, Sheppard JW, Asmann YW, Rademakers R, van Blitterswijk M. Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriers. Acta Neuropathol Commun. 2019 Oct 8;7(1):150. doi: 10.1186/s40478-019-0797-0.
Chen Q, Boeve BF, Schwarz CG, Reid R, Tosakulwong N, Lesnick TG, Bove J, Brannelly P, Brushaber D, Coppola G, Dheel C, Dickerson BC, Dickinson S, Faber K, Fields J, Fong J, Foroud T, Forsberg L, Gavrilova RH, Gearhart D, Ghoshal N, Goldman J, Graff-Radford J, Graff-Radford NR, Grossman M, Haley D, Heuer HW, Hsiung GR, Huey E, Irwin DJ, Jack CR, Jones DT, Jones L, Karydas AM, Knopman DS, Kornak J, Kramer J, Kremers W, Kukull WA, Lapid M, Lucente D, Lungu C, Mackenzie IRA, Manoochehri M, McGinnis S, Miller BL, Pearlman R, Petrucelli L, Potter M, Rademakers R, Ramos EM, Rankin KP, Rascovsky K, Sengdy P, Shaw L, Syrjanen J, Tatton N, Taylor J, Toga AW, Trojanowski J, Weintraub S, Wong B, Boxer AL, Rosen H, Wszolek Z, Kantarci K; LEFFTDS Consortium. Tracking white matter degeneration in asymptomatic and symptomatic MAPT mutation carriers. Neurobiol Aging. 2019 Nov;83:54-62. doi: 10.1016/j.neurobiolaging.2019.08.011. Epub 2019 Aug 15.
Brittain C, McCarthy A, Irizarry MC, McDermott D, Biglan K, Höglinger GU, Lorenzl S, Del Ser T, Boxer AL; AL-108-231 Study Group; PROPSPERA investigators; 4RNTI-1authors; Tau Restoration on PSP (TAUROS) Investigators. Severity dependent distribution of impairments in PSP and CBS: Interactive visualizations. Parkinsonism Relat Disord. 2019 Mar;60:138-145. doi: 10.1016/j.parkreldis.2018.08.025. Epub 2018 Sep 4.
Chen Q, Boeve BF, Senjem M, Tosakulwong N, Lesnick TG, Brushaber D, Dheel C, Fields J, Forsberg L, Gavrilova R, Gearhart D, Graff-Radford J, Graff-Radford NR, Jack CR Jr, Jones DT, Knopman DS, Kremers WK, Lapid M, Rademakers R, Syrjanen J, Boxer AL, Rosen H, Wszolek ZK, Kantarci K; LEFFTDS Consortium. Rates of lobar atrophy in asymptomatic MAPT mutation carriers. Alzheimers Dement (N Y). 2019 Jul 30;5:338-346. doi: 10.1016/j.trci.2019.05.010. eCollection 2019.
Shoeibi A, Litvan I, Tolosa E, Ser TD, Lee E; TAUROS Investigators. Progression of two Progressive Supranuclear Palsy phenotypes with comparable initial disability. Parkinsonism Relat Disord. 2019 Sep;66:87-93. doi: 10.1016/j.parkreldis.2019.07.010. Epub 2019 Jul 9.
Chen Q, Boeve BF, Tosakulwong N, Lesnick T, Brushaber D, Dheel C, Fields J, Forsberg L, Gavrilova R, Gearhart D, Haley D, Gunter JL, Graff-Radford J, Jones D, Knopman D, Graff-Radford N, Kraft R, Lapid M, Rademakers R, Wszolek ZK, Rosen H, Boxer AL, Kantarci K. Brain MR Spectroscopy Changes Precede Frontotemporal Lobar Degeneration Phenoconversion in Mapt Mutation Carriers. J Neuroimaging. 2019 Sep;29(5):624-629. doi: 10.1111/jon.12642. Epub 2019 Jun 7.
Battistella G, Henry M, Gesierich B, Wilson SM, Borghesani V, Shwe W, Miller Z, Deleon J, Miller BL, Jovicich J, Papinutto N, Dronkers NF, Seeley WW, Mandelli ML, Gorno-Tempini ML. Differential intrinsic functional connectivity changes in semantic variant primary progressive aphasia. Neuroimage Clin. 2019;22:101797. doi: 10.1016/j.nicl.2019.101797. Epub 2019 Mar 27.
Meeter LHH, Steketee RME, Salkovic D, Vos ME, Grossman M, McMillan CT, Irwin DJ, Boxer AL, Rojas JC, Olney NT, Karydas A, Miller BL, Pijnenburg YAL, Barkhof F, Sánchez-Valle R, Lladó A, Borrego-Ecija S, Diehl-Schmid J, Grimmer T, Goldhardt O, Santillo AF, Hansson O, Vestberg S, Borroni B, Padovani A, Galimberti D, Scarpini E, Rohrer JD, Woollacott IOC, Synofzik M, Wilke C, de Mendonca A, Vandenberghe R, Benussi L, Ghidoni R, Binetti G, Niessen WJ, Papma JM, Seelaar H, Jiskoot LC, de Jong FJ, Donker Kaat L, Del Campo M, Teunissen CE, Bron EE, Van den Berg E, Van Swieten JC. Clinical value of cerebrospinal fluid neurofilament light chain in semantic dementia. J Neurol Neurosurg Psychiatry. 2019 Sep;90(9):997-1004. doi: 10.1136/jnnp-2018-319784. Epub 2019 May 23.
Lee SE, Sias AC, Kosik EL, Flagan TM, Deng J, Chu SA, Brown JA, Vidovszky AA, Ramos EM, Gorno-Tempini ML, Karydas AM, Coppola G, Geschwind DH, Rademakers R, Boeve BF, Boxer AL, Rosen HJ, Miller BL, Seeley WW. Thalamo-cortical network hyperconnectivity in preclinical progranulin mutation carriers. Neuroimage Clin. 2019;22:101751. doi: 10.1016/j.nicl.2019.101751. Epub 2019 Mar 16.
Borghesani V, Narvid J, Battistella G, Shwe W, Watson C, Binney RJ, Sturm V, Miller Z, Mandelli ML, Miller B, Gorno-Tempini ML. "Looks familiar, but I do not know who she is": The role of the anterior right temporal lobe in famous face recognition. Cortex. 2019 Jun;115:72-85. doi: 10.1016/j.cortex.2019.01.006. Epub 2019 Jan 23.
Pottier C, Ren Y, Perkerson RB 3rd, Baker M, Jenkins GD, van Blitterswijk M, DeJesus-Hernandez M, van Rooij JGJ, Murray ME, Christopher E, McDonnell SK, Fogarty Z, Batzler A, Tian S, Vicente CT, Matchett B, Karydas AM, Hsiung GR, Seelaar H, Mol MO, Finger EC, Graff C, Öijerstedt L, Neumann M, Heutink P, Synofzik M, Wilke C, Prudlo J, Rizzu P, Simon-Sanchez J, Edbauer D, Roeber S, Diehl-Schmid J, Evers BM, King A, Mesulam MM, Weintraub S, Geula C, Bieniek KF, Petrucelli L, Ahern GL, Reiman EM, Woodruff BK, Caselli RJ, Huey ED, Farlow MR, Grafman J, Mead S, Grinberg LT, Spina S, Grossman M, Irwin DJ, Lee EB, Suh E, Snowden J, Mann D, Ertekin-Taner N, Uitti RJ, Wszolek ZK, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Hodges JR, Piguet O, Geier EG, Yokoyama JS, Rissman RA, Rogaeva E, Keith J, Zinman L, Tartaglia MC, Cairns NJ, Cruchaga C, Ghetti B, Kofler J, Lopez OL, Beach TG, Arzberger T, Herms J, Honig LS, Vonsattel JP, Halliday GM, Kwok JB, White CL 3rd, Gearing M, Glass J, Rollinson S, Pickering-Brown S, Rohrer JD, Trojanowski JQ, Van Deerlin V, Bigio EH, Troakes C, Al-Sarraj S, Asmann Y, Miller BL, Graff-Radford NR, Boeve BF, Seeley WW, et al. Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD. Acta Neuropathol. 2019 Jun;137(6):879-899. doi: 10.1007/s00401-019-01962-9. Epub 2019 Feb 9.
Ali F, Martin PR, Botha H, Ahlskog JE, Bower JH, Masumoto JY, Maraganore D, Hassan A, Eggers S, Boeve BF, Knopman DS, Drubach D, Petersen RC, Dunkley ED, van Gerpen J, Uitti R, Whitwell JL, Dickson DW, Josephs KA. Sensitivity and Specificity of Diagnostic Criteria for Progressive Supranuclear Palsy. Mov Disord. 2019 Aug;34(8):1144-1153. doi: 10.1002/mds.27619. Epub 2019 Feb 6.
Gillard DM, Proudfoot JA, Simões RM, Litvan I. End of life planning in parkinsonian diseases. Parkinsonism Relat Disord. 2019 May;62:73-78. doi: 10.1016/j.parkreldis.2019.01.026. Epub 2019 Jan 30.
Duff K, McDermott D, Luong D, Randolph C, Boxer AL. Cognitive deficits in progressive supranuclear palsy on the Repeatable Battery for the Assessment of Neuropsychological Status. J Clin Exp Neuropsychol. 2019 Jul;41(5):469-475. doi: 10.1080/13803395.2019.1572073. Epub 2019 Feb 4.
Tsai RM, Bejanin A, Lesman-Segev O, LaJoie R, Visani A, Bourakova V, O'Neil JP, Janabi M, Baker S, Lee SE, Perry DC, Bajorek L, Karydas A, Spina S, Grinberg LT, Seeley WW, Ramos EM, Coppola G, Gorno-Tempini ML, Miller BL, Rosen HJ, Jagust W, Boxer AL, Rabinovici GD. (18)F-flortaucipir (AV-1451) tau PET in frontotemporal dementia syndromes. Alzheimers Res Ther. 2019 Jan 31;11(1):13. doi: 10.1186/s13195-019-0470-7.
Tee BL, Gorno-Tempini ML. Primary progressive aphasia: a model for neurodegenerative disease. Curr Opin Neurol. 2019 Apr;32(2):255-265. doi: 10.1097/WCO.0000000000000673.
Boeve BF, Rosen HJ. Multimodal imaging in familial FTLD: phenoconversion and planning for the future. Brain. 2019 Jan 1;142(1):8-11. doi: 10.1093/brain/awy314.
La Joie R, Bejanin A, Fagan AM, Ayakta N, Baker SL, Bourakova V, Boxer AL, Cha J, Karydas A, Jerome G, Maass A, Mensing A, Miller ZA, O'Neil JP, Pham J, Rosen HJ, Tsai R, Visani AV, Miller BL, Jagust WJ, Rabinovici GD. Associations between [(18)F]AV1451 tau PET and CSF measures of tau pathology in a clinical sample. Neurology. 2018 Jan 23;90(4):e282-e290. doi: 10.1212/WNL.0000000000004860. Epub 2017 Dec 27.
Rojas JC, Bang J, Lobach IV, Tsai RM, Rabinovici GD, Miller BL, Boxer AL; AL-108-231 Investigators. CSF neurofilament light chain and phosphorylated tau 181 predict disease progression in PSP. Neurology. 2018 Jan 23;90(4):e273-e281. doi: 10.1212/WNL.0000000000004859. Epub 2017 Dec 27.
Townley RA, Boeve BF, Benarroch EE. Progranulin: Functions and neurologic correlations. Neurology. 2018 Jan 16;90(3):118-125. doi: 10.1212/WNL.0000000000004840. Epub 2017 Dec 20.
Deutschländer AB, Boeve BF, Rosen HJ, Boxer AL, Wszolek ZK; LEFFTDS Consortium. Tau Mutations as a Novel Risk Factor for Cancer-Letter. Cancer Res. 2018 Nov 15;78(22):6523-6524. doi: 10.1158/0008-5472.CAN-18-2313. Epub 2018 Oct 29.
Ljubenkov PA, Staffaroni AM, Rojas JC, Allen IE, Wang P, Heuer H, Karydas A, Kornak J, Cobigo Y, Seeley WW, Grinberg LT, Spina S, Fagan AM, Jerome G, Knopman D, Boeve BF, Dickerson BC, Kramer J, Miller B, Boxer AL, Rosen HJ. Cerebrospinal fluid biomarkers predict frontotemporal dementia trajectory. Ann Clin Transl Neurol. 2018 Sep 20;5(10):1250-1263. doi: 10.1002/acn3.643. eCollection 2018 Oct.
Watson CL, Possin K, Allen IE, Hubbard HI, Meyer M, Welch AE, Rabinovici GD, Rosen H, Rankin KP, Miller Z, Santos-Santos MA, Kramer JH, Miller BL, Gorno-Tempini ML. Visuospatial Functioning in the Primary Progressive Aphasias. J Int Neuropsychol Soc. 2018 Mar;24(3):259-268. doi: 10.1017/S1355617717000984. Epub 2017 Oct 17.
Ossenkoppele R, Rabinovici GD, Smith R, Cho H, Schöll M, Strandberg O, Palmqvist S, Mattsson N, Janelidze S, Santillo A, Ohlsson T, Jögi J, Tsai R, La Joie R, Kramer J, Boxer AL, Gorno-Tempini ML, Miller BL, Choi JY, Ryu YH, Lyoo CH, Hansson O. Discriminative Accuracy of [18F]flortaucipir Positron Emission Tomography for Alzheimer Disease vs Other Neurodegenerative Disorders. JAMA. 2018 Sep 18;320(11):1151-1162. doi: 10.1001/jama.2018.12917.
Mandelli ML, Welch AE, Vilaplana E, Watson C, Battistella G, Brown JA, Possin KL, Hubbard HI, Miller ZA, Henry ML, Marx GA, Santos-Santos MA, Bajorek LP, Fortea J, Boxer A, Rabinovici G, Lee S, Deleon J, Rosen HJ, Miller BL, Seeley WW, Gorno-Tempini ML. Altered topology of the functional speech production network in non-fluent/agrammatic variant of PPA. Cortex. 2018 Nov;108:252-264. doi: 10.1016/j.cortex.2018.08.002. Epub 2018 Aug 11.
Bergeron D, Gorno-Tempini ML, Rabinovici GD, Santos-Santos MA, Seeley W, Miller BL, Pijnenburg Y, Keulen MA, Groot C, van Berckel BNM, van der Flier WM, Scheltens P, Rohrer JD, Warren JD, Schott JM, Fox NC, Sanchez-Valle R, Grau-Rivera O, Gelpi E, Seelaar H, Papma JM, van Swieten JC, Hodges JR, Leyton CE, Piguet O, Rogalski EJ, Mesulam MM, Koric L, Kristensen N, Pariente J, Dickerson B, Mackenzie IR, Hsiung GR, Belliard S, Irwin DJ, Wolk DA, Grossman M, Jones M, Harris J, Mann D, Snowden JS, Chrem-Mendez P, Calandri IL, Amengual AA, Miguet-Alfonsi C, Magnin E, Magnani G, Santangelo R, Deramecourt V, Pasquier F, Mattsson N, Nilsson C, Hansson O, Keith J, Masellis M, Black SE, Matías-Guiu JA, Cabrera-Martin MN, Paquet C, Dumurgier J, Teichmann M, Sarazin M, Bottlaender M, Dubois B, Rowe CC, Villemagne VL, Vandenberghe R, Granadillo E, Teng E, Mendez M, Meyer PT, Frings L, Lleó A, Blesa R, Fortea J, Seo SW, Diehl-Schmid J, Grimmer T, Frederiksen KS, Sánchez-Juan P, Chételat G, Jansen W, Bouchard RW, Laforce RJ, Visser PJ, Ossenkoppele R. Prevalence of amyloid-β pathology in distinct variants of primary progressive aphasia. Ann Neurol. 2018 Nov;84(5):729-740. doi: 10.1002/ana.25333.
Björkhem I, Patra K, Boxer AL, Svenningsson P. 24S-Hydroxycholesterol Correlates With Tau and Is Increased in Cerebrospinal Fluid in Parkinson's Disease and Corticobasal Syndrome. Front Neurol. 2018 Sep 7;9:756. doi: 10.3389/fneur.2018.00756. eCollection 2018.
Dubey D, Kothapalli N, McKeon A, Flanagan EP, Lennon VA, Klein CJ, Britton JW, So E, Boeve BF, Tillema JM, Sadjadi R, Pittock SJ. Predictors of neural-specific autoantibodies and immunotherapy response in patients with cognitive dysfunction. J Neuroimmunol. 2018 Oct 15;323:62-72. doi: 10.1016/j.jneuroim.2018.07.009. Epub 2018 Jul 25.
Finger E, Berry S, Cummings J, Coleman K, Hsiung R, Feldman HH, Boxer A. Adaptive crossover designs for assessment of symptomatic treatments targeting behaviour in neurodegenerative disease: a phase 2 clinical trial of intranasal oxytocin for frontotemporal dementia (FOXY). Alzheimers Res Ther. 2018 Sep 27;10(1):102. doi: 10.1186/s13195-018-0427-2.
Boeve BF, Kantarci K. Multimodal imaging in RBD - present and future. Nat Rev Neurol. 2018 Oct;14(10):574-576. doi: 10.1038/s41582-018-0054-3.
Chen JA, Chen Z, Won H, Huang AY, Lowe JK, Wojta K, Yokoyama JS, Bensimon G, Leigh PN, Payan C, Shatunov A, Jones AR, Lewis CM, Deloukas P, Amouyel P, Tzourio C, Dartigues JF, Ludolph A, Boxer AL, Bronstein JM, Al-Chalabi A, Geschwind DH, Coppola G. Joint genome-wide association study of progressive supranuclear palsy identifies novel susceptibility loci and genetic correlation to neurodegenerative diseases. Mol Neurodegener. 2018 Aug 8;13(1):41. doi: 10.1186/s13024-018-0270-8.
Kelley KD, Checkoway H, Hall DA, Reich SG, Cunningham C, Litvan I. Traumatic Brain Injury and Firearm Use and Risk of Progressive Supranuclear Palsy Among Veterans. Front Neurol. 2018 Jun 20;9:474. doi: 10.3389/fneur.2018.00474. eCollection 2018.
Casaletto KB, Elahi FM, Fitch R, Walters S, Fox E, Staffaroni AM, Bettcher BM, Zetterberg H, Karydas A, Rojas JC, Boxer AL, Kramer JH. A comparison of biofluid cytokine markers across platform technologies: Correspondence or divergence?. Cytokine. 2018 Nov;111:481-489. doi: 10.1016/j.cyto.2018.05.032. Epub 2018 Jun 14.
Meeter LHH, Gendron TF, Sias AC, Jiskoot LC, Russo SP, Donker Kaat L, Papma JM, Panman JL, van der Ende EL, Dopper EG, Franzen S, Graff C, Boxer AL, Rosen HJ, Sanchez-Valle R, Galimberti D, Pijnenburg YAL, Benussi L, Ghidoni R, Borroni B, Laforce R Jr, Del Campo M, Teunissen CE, van Minkelen R, Rojas JC, Coppola G, Geschwind DH, Rademakers R, Karydas AM, Öijerstedt L, Scarpini E, Binetti G, Padovani A, Cash DM, Dick KM, Bocchetta M, Miller BL, Rohrer JD, Petrucelli L, van Swieten JC, Lee SE. Poly(GP), neurofilament and grey matter deficits in C9orf72 expansion carriers. Ann Clin Transl Neurol. 2018 Apr 6;5(5):583-597. doi: 10.1002/acn3.559. eCollection 2018 May.
Cooper YA, Nachun D, Dokuru D, Yang Z, Karydas AM, Serrero G, Yue B; Alzheimer's Disease Neuroimaging Initiative; Boxer AL, Miller BL, Coppola G. Progranulin levels in blood in Alzheimer's disease and mild cognitive impairment. Ann Clin Transl Neurol. 2018 Apr 2;5(5):616-629. doi: 10.1002/acn3.560. eCollection 2018 May.
Pottier C, Zhou X, Perkerson RB 3rd, Baker M, Jenkins GD, Serie DJ, Ghidoni R, Benussi L, Binetti G, López de Munain A, Zulaica M, Moreno F, Le Ber I, Pasquier F, Hannequin D, Sánchez-Valle R, Antonell A, Lladó A, Parsons TM, Finch NA, Finger EC, Lippa CF, Huey ED, Neumann M, Heutink P, Synofzik M, Wilke C, Rissman RA, Slawek J, Sitek E, Johannsen P, Nielsen JE, Ren Y, van Blitterswijk M, DeJesus-Hernandez M, Christopher E, Murray ME, Bieniek KF, Evers BM, Ferrari C, Rollinson S, Richardson A, Scarpini E, Fumagalli GG, Padovani A, Hardy J, Momeni P, Ferrari R, Frangipane F, Maletta R, Anfossi M, Gallo M, Petrucelli L, Suh E, Lopez OL, Wong TH, van Rooij JGJ, Seelaar H, Mead S, Caselli RJ, Reiman EM, Noel Sabbagh M, Kjolby M, Nykjaer A, Karydas AM, Boxer AL, Grinberg LT, Grafman J, Spina S, Oblak A, Mesulam MM, Weintraub S, Geula C, Hodges JR, Piguet O, Brooks WS, Irwin DJ, Trojanowski JQ, Lee EB, Josephs KA, Parisi JE, Ertekin-Taner N, Knopman DS, Nacmias B, Piaceri I, Bagnoli S, Sorbi S, Gearing M, Glass J, Beach TG, Black SE, Masellis M, Rogaeva E, Vonsattel JP, Honig LS, Kofler J, Bruni AC, Snowden J, Mann D, Pickering-Brown S, et al. Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study. Lancet Neurol. 2018 Jun;17(6):548-558. doi: 10.1016/S1474-4422(18)30126-1. Epub 2018 Apr 30.
Henry ML, Hubbard HI, Grasso SM, Mandelli ML, Wilson SM, Sathishkumar MT, Fridriksson J, Daigle W, Boxer AL, Miller BL, Gorno-Tempini ML. Retraining speech production and fluency in non-fluent/agrammatic primary progressive aphasia. Brain. 2018 Jun 1;141(6):1799-1814. doi: 10.1093/brain/awy101.
McKeever PM, Schneider R, Taghdiri F, Weichert A, Multani N, Brown RA, Boxer AL, Karydas A, Miller B, Robertson J, Tartaglia MC. MicroRNA Expression Levels Are Altered in the Cerebrospinal Fluid of Patients with Young-Onset Alzheimer's Disease. Mol Neurobiol. 2018 Dec;55(12):8826-8841. doi: 10.1007/s12035-018-1032-x. Epub 2018 Mar 30.
Carvalho DZ, St Louis EK, Knopman DS, Boeve BF, Lowe VJ, Roberts RO, Mielke MM, Przybelski SA, Machulda MM, Petersen RC, Jack CR Jr, Vemuri P. Association of Excessive Daytime Sleepiness With Longitudinal β-Amyloid Accumulation in Elderly Persons Without Dementia. JAMA Neurol. 2018 Jun 1;75(6):672-680. doi: 10.1001/jamaneurol.2018.0049.
Seo SW, Thibodeau MP, Perry DC, Hua A, Sidhu M, Sible I, Vargas JNS, Gaus SE, Rabinovici GD, Rankin KD, Boxer AL, Kramer JH, Rosen HJ, Gorno-Tempini ML, Grinberg LT, Huang EJ, DeArmond SJ, Trojanowski JQ, Miller BL, Seeley WW. Early vs late age at onset frontotemporal dementia and frontotemporal lobar degeneration. Neurology. 2018 Mar 20;90(12):e1047-e1056. doi: 10.1212/WNL.0000000000005163. Epub 2018 Feb 16.
Jones DT, Knopman DS, Graff-Radford J, Syrjanen JA, Senjem ML, Schwarz CG, Dheel C, Wszolek Z, Rademakers R, Kantarci K, Petersen RC, Jack CR Jr, Lowe VJ, Boeve BF. In vivo (18)F-AV-1451 tau PET signal in MAPT mutation carriers varies by expected tau isoforms. Neurology. 2018 Mar 13;90(11):e947-e954. doi: 10.1212/WNL.0000000000005117. Epub 2018 Feb 9.
Schneider R, McKeever P, Kim T, Graff C, van Swieten JC, Karydas A, Boxer A, Rosen H, Miller BL, Laforce R Jr, Galimberti D, Masellis M, Borroni B, Zhang Z, Zinman L, Rohrer JD, Tartaglia MC, Robertson J; Genetic FTD Initiative (GENFI). Downregulation of exosomal miR-204-5p and miR-632 as a biomarker for FTD: a GENFI study. J Neurol Neurosurg Psychiatry. 2018 Aug;89(8):851-858. doi: 10.1136/jnnp-2017-317492. Epub 2018 Feb 6.
Santos-Santos MA, Rabinovici GD, Iaccarino L, Ayakta N, Tammewar G, Lobach I, Henry ML, Hubbard I, Mandelli ML, Spinelli E, Miller ZA, Pressman PS, O'Neil JP, Ghosh P, Lazaris A, Meyer M, Watson C, Yoon SJ, Rosen HJ, Grinberg L, Seeley WW, Miller BL, Jagust WJ, Gorno-Tempini ML. Rates of Amyloid Imaging Positivity in Patients With Primary Progressive Aphasia. JAMA Neurol. 2018 Mar 1;75(3):342-352. doi: 10.1001/jamaneurol.2017.4309.
Botha H, Finch NA, Gavrilova RH, Machulda MM, Fields JA, Lowe VJ, Petersen RC, Jack CR Jr, Dheel CM, Gearhart DJ, Knopman DS, Rademakers R, Boeve BF. Novel GRN mutation presenting as an aphasic dementia and evolving into corticobasal syndrome. Neurol Genet. 2017 Dec 11;3(6):e201. doi: 10.1212/NXG.0000000000000201. eCollection 2017 Dec.
Iaccarino L, Tammewar G, Ayakta N, Baker SL, Bejanin A, Boxer AL, Gorno-Tempini ML, Janabi M, Kramer JH, Lazaris A, Lockhart SN, Miller BL, Miller ZA, O'Neil JP, Ossenkoppele R, Rosen HJ, Schonhaut DR, Jagust WJ, Rabinovici GD. Local and distant relationships between amyloid, tau and neurodegeneration in Alzheimer's Disease. Neuroimage Clin. 2017 Sep 25;17:452-464. doi: 10.1016/j.nicl.2017.09.016. eCollection 2018.
Sha SJ, Miller ZA, Min SW, Zhou Y, Brown J, Mitic LL, Karydas A, Koestler M, Tsai R, Corbetta-Rastelli C, Lin S, Hare E, Fields S, Fleischmann KE, Powers R, Fitch R, Martens LH, Shamloo M, Fagan AM, Farese RV Jr, Pearlman R, Seeley W, Miller BL, Gan L, Boxer AL. An 8-week, open-label, dose-finding study of nimodipine for the treatment of progranulin insufficiency from GRN gene mutations. Alzheimers Dement (N Y). 2017 Sep 12;3(4):507-512. doi: 10.1016/j.trci.2017.08.002. eCollection 2017 Nov.
Scherling CS, Zakrzewski J, Datta S, Levenson RW, Shimamura AP, Sturm VE, Miller BL, Rosen HJ. Mistakes, Too Few to Mention? Impaired Self-conscious Emotional Processing of Errors in the Behavioral Variant of Frontotemporal Dementia. Front Behav Neurosci. 2017 Oct 17;11:189. doi: 10.3389/fnbeh.2017.00189. eCollection 2017.
Gerstenecker A, Roberson ED, Schellenberg GD, Standaert DG, Shprecher DR, Kluger BM, Litvan I. Genetic influences on cognition in progressive supranuclear palsy. Mov Disord. 2017 Dec;32(12):1764-1771. doi: 10.1002/mds.27196. Epub 2017 Oct 27.
Perry DC, Brown JA, Possin KL, Datta S, Trujillo A, Radke A, Karydas A, Kornak J, Sias AC, Rabinovici GD, Gorno-Tempini ML, Boxer AL, De May M, Rankin KP, Sturm VE, Lee SE, Matthews BR, Kao AW, Vossel KA, Tartaglia MC, Miller ZA, Seo SW, Sidhu M, Gaus SE, Nana AL, Vargas JNS, Hwang JL, Ossenkoppele R, Brown AB, Huang EJ, Coppola G, Rosen HJ, Geschwind D, Trojanowski JQ, Grinberg LT, Kramer JH, Miller BL, Seeley WW. Clinicopathological correlations in behavioural variant frontotemporal dementia. Brain. 2017 Dec 1;140(12):3329-3345. doi: 10.1093/brain/awx254.
Bejanin A, Schonhaut DR, La Joie R, Kramer JH, Baker SL, Sosa N, Ayakta N, Cantwell A, Janabi M, Lauriola M, O'Neil JP, Gorno-Tempini ML, Miller ZA, Rosen HJ, Miller BL, Jagust WJ, Rabinovici GD. Tau pathology and neurodegeneration contribute to cognitive impairment in Alzheimer's disease. Brain. 2017 Dec 1;140(12):3286-3300. doi: 10.1093/brain/awx243.
Walsh CM, Ruoff L, Walker K, Emery A, Varbel J, Karageorgiou E, Luong PN, Mance I, Heuer HW, Boxer AL, Grinberg LT, Kramer JH, Miller BL, Neylan TC. Sleepless Night and Day, the Plight of Progressive Supranuclear Palsy. Sleep. 2017 Nov 1;40(11):zsx154. doi: 10.1093/sleep/zsx154.
Schonhaut DR, McMillan CT, Spina S, Dickerson BC, Siderowf A, Devous MD Sr, Tsai R, Winer J, Russell DS, Litvan I, Roberson ED, Seeley WW, Grinberg LT, Kramer JH, Miller BL, Pressman P, Nasrallah I, Baker SL, Gomperts SN, Johnson KA, Grossman M, Jagust WJ, Boxer AL, Rabinovici GD. (18) F-flortaucipir tau positron emission tomography distinguishes established progressive supranuclear palsy from controls and Parkinson disease: A multicenter study. Ann Neurol. 2017 Oct;82(4):622-634. doi: 10.1002/ana.25060.
Elahi FM, Marx G, Cobigo Y, Staffaroni AM, Kornak J, Tosun D, Boxer AL, Kramer JH, Miller BL, Rosen HJ. Longitudinal white matter change in frontotemporal dementia subtypes and sporadic late onset Alzheimer's disease. Neuroimage Clin. 2017 Sep 14;16:595-603. doi: 10.1016/j.nicl.2017.09.007. eCollection 2017.
Ranasinghe KG, Hinkley LB, Beagle AJ, Mizuiri D, Honma SM, Welch AE, Hubbard I, Mandelli ML, Miller ZA, Garrett C, La A, Boxer AL, Houde JF, Miller BL, Vossel KA, Gorno-Tempini ML, Nagarajan SS. Distinct spatiotemporal patterns of neuronal functional connectivity in primary progressive aphasia variants. Brain. 2017 Oct 1;140(10):2737-2751. doi: 10.1093/brain/awx217.
Shi Y, Yamada K, Liddelow SA, Smith ST, Zhao L, Luo W, Tsai RM, Spina S, Grinberg LT, Rojas JC, Gallardo G, Wang K, Roh J, Robinson G, Finn MB, Jiang H, Sullivan PM, Baufeld C, Wood MW, Sutphen C, McCue L, Xiong C, Del-Aguila JL, Morris JC, Cruchaga C; Alzheimer’s Disease Neuroimaging Initiative; Fagan AM, Miller BL, Boxer AL, Seeley WW, Butovsky O, Barres BA, Paul SM, Holtzman DM. ApoE4 markedly exacerbates tau-mediated neurodegeneration in a mouse model of tauopathy. Nature. 2017 Sep 28;549(7673):523-527. doi: 10.1038/nature24016. Epub 2017 Sep 20.
Brown JA, Hua AY, Trujllo A, Attygalle S, Binney RJ, Spina S, Lee SE, Kramer JH, Miller BL, Rosen HJ, Boxer AL, Seeley WW. Advancing functional dysconnectivity and atrophy in progressive supranuclear palsy. Neuroimage Clin. 2017 Sep 12;16:564-574. doi: 10.1016/j.nicl.2017.09.008. eCollection 2017.
Nedelska Z, Przybelski SA, Lesnick TG, Schwarz CG, Lowe VJ, Machulda MM, Kremers WK, Mielke MM, Roberts RO, Boeve BF, Knopman DS, Petersen RC, Jack CR Jr, Kantarci K. (1)H-MRS metabolites and rate of β-amyloid accumulation on serial PET in clinically normal adults. Neurology. 2017 Sep 26;89(13):1391-1399. doi: 10.1212/WNL.0000000000004421. Epub 2017 Aug 25.
Lanctôt KL, Agüera-Ortiz L, Brodaty H, Francis PT, Geda YE, Ismail Z, Marshall GA, Mortby ME, Onyike CU, Padala PR, Politis AM, Rosenberg PB, Siegel E, Sultzer DL, Abraham EH. Apathy associated with neurocognitive disorders: Recent progress and future directions. Alzheimers Dement. 2017 Jan;13(1):84-100. doi: 10.1016/j.jalz.2016.05.008. Epub 2016 Jun 27.
Boxer AL, Yu JT, Golbe LI, Litvan I, Lang AE, Höglinger GU. Advances in progressive supranuclear palsy: new diagnostic criteria, biomarkers, and therapeutic approaches. Lancet Neurol. 2017 Jul;16(7):552-563. doi: 10.1016/S1474-4422(17)30157-6. Epub 2017 Jun 13.
Whitwell JL, Höglinger GU, Antonini A, Bordelon Y, Boxer AL, Colosimo C, van Eimeren T, Golbe LI, Kassubek J, Kurz C, Litvan I, Pantelyat A, Rabinovici G, Respondek G, Rominger A, Rowe JB, Stamelou M, Josephs KA; Movement Disorder Society-endorsed PSP Study Group. Radiological biomarkers for diagnosis in PSP: Where are we and where do we need to be?. Mov Disord. 2017 Jul;32(7):955-971. doi: 10.1002/mds.27038. Epub 2017 May 13.
Respondek G, Kurz C, Arzberger T, Compta Y, Englund E, Ferguson LW, Gelpi E, Giese A, Irwin DJ, Meissner WG, Nilsson C, Pantelyat A, Rajput A, van Swieten JC, Troakes C, Josephs KA, Lang AE, Mollenhauer B, Müller U, Whitwell JL, Antonini A, Bhatia KP, Bordelon Y, Corvol JC, Colosimo C, Dodel R, Grossman M, Kassubek J, Krismer F, Levin J, Lorenzl S, Morris H, Nestor P, Oertel WH, Rabinovici GD, Rowe JB, van Eimeren T, Wenning GK, Boxer A, Golbe LI, Litvan I, Stamelou M, Höglinger GU; Movement Disorder Society-Endorsed PSP Study Group. Which ante mortem clinical features predict progressive supranuclear palsy pathology?. Mov Disord. 2017 Jul;32(7):995-1005. doi: 10.1002/mds.27034. Epub 2017 May 13.
Höglinger GU, Respondek G, Stamelou M, Kurz C, Josephs KA, Lang AE, Mollenhauer B, Müller U, Nilsson C, Whitwell JL, Arzberger T, Englund E, Gelpi E, Giese A, Irwin DJ, Meissner WG, Pantelyat A, Rajput A, van Swieten JC, Troakes C, Antonini A, Bhatia KP, Bordelon Y, Compta Y, Corvol JC, Colosimo C, Dickson DW, Dodel R, Ferguson L, Grossman M, Kassubek J, Krismer F, Levin J, Lorenzl S, Morris HR, Nestor P, Oertel WH, Poewe W, Rabinovici G, Rowe JB, Schellenberg GD, Seppi K, van Eimeren T, Wenning GK, Boxer AL, Golbe LI, Litvan I; Movement Disorder Society-endorsed PSP Study Group. Clinical diagnosis of progressive supranuclear palsy: The movement disorder society criteria. Mov Disord. 2017 Jun;32(6):853-864. doi: 10.1002/mds.26987. Epub 2017 May 3.
Roe CM, Barco PP, Head DM, Ghoshal N, Selsor N, Babulal GM, Fierberg R, Vernon EK, Shulman N, Johnson A, Fague S, Xiong C, Grant EA, Campbell A, Ott BR, Holtzman DM, Benzinger TL, Fagan AM, Carr DB, Morris JC. Amyloid Imaging, Cerebrospinal Fluid Biomarkers Predict Driving Performance Among Cognitively Normal Individuals. Alzheimer Dis Assoc Disord. 2017 Jan-Mar;31(1):69-72. doi: 10.1097/WAD.0000000000000154.
Lapid MI, Kuntz KM, Mason SS, Aakre JA, Lundt ES, Kremers W, Allen LA, Drubach DA, Boeve BF. Efficacy, Safety, and Tolerability of Armodafinil Therapy for Hypersomnia Associated with Dementia with Lewy Bodies: A Pilot Study. Dement Geriatr Cogn Disord. 2017;43(5-6):269-280. doi: 10.1159/000471507. Epub 2017 Apr 28.
Höglinger GU, Schöpe J, Stamelou M, Kassubek J, Del Ser T, Boxer AL, Wagenpfeil S, Huppertz HJ; AL-108-231 Investigators; Tauros MRI Investigators; Movement Disorder Society-Endorsed PSP Study Group. Longitudinal magnetic resonance imaging in progressive supranuclear palsy: A new combined score for clinical trials. Mov Disord. 2017 Jun;32(6):842-852. doi: 10.1002/mds.26973. Epub 2017 Apr 24.
Binney RJ, Pankov A, Marx G, He X, McKenna F, Staffaroni AM, Kornak J, Attygalle S, Boxer AL, Schuff N, Gorno-Tempini ML, Weiner MW, Kramer JH, Miller BL, Rosen HJ. Data-driven regions of interest for longitudinal change in three variants of frontotemporal lobar degeneration. Brain Behav. 2017 Mar 23;7(4):e00675. doi: 10.1002/brb3.675. eCollection 2017 Apr.
Kelley KD, Peavy G, Edland S, Rogers W, Riley DE, Bordelon Y, Standaert D, Reich SG, Litvan I. The Role of Stress as a Risk Factor for Progressive Supranuclear Palsy. J Parkinsons Dis. 2017;7(2):377-383. doi: 10.3233/JPD-160945.
Lopez A, Lee SE, Wojta K, Ramos EM, Klein E, Chen J, Boxer AL, Gorno-Tempini ML, Geschwind DH, Schlotawa L, Ogryzko NV, Bigio EH, Rogalski E, Weintraub S, Mesulam MM; Tauopathy Genetics Consortium; Fleming A, Coppola G, Miller BL, Rubinsztein DC. A152T tau allele causes neurodegeneration that can be ameliorated in a zebrafish model by autophagy induction. Brain. 2017 Apr 1;140(4):1128-1146. doi: 10.1093/brain/awx005.
Hagedorn C, Proctor M, Goldstein L, Wilson SM, Miller B, Gorno-Tempini ML, Narayanan SS. Characterizing Articulation in Apraxic Speech Using Real-Time Magnetic Resonance Imaging. J Speech Lang Hear Res. 2017 Apr 14;60(4):877-891. doi: 10.1044/2016_JSLHR-S-15-0112.
Riancho J, Pozueta A, Santos M, Lage C, Carril JM, Banzo I, Martínez-Rodriguez I, Gorno-Tempini M, Sánchez-Juan P. Logopenic Aphasia due to a Strategic Stroke: New Evidence from a Single Case. J Alzheimers Dis. 2017;57(3):717-721. doi: 10.3233/JAD-161267.
Yokoyama JS, Karch CM, Fan CC, Bonham LW, Kouri N, Ross OA, Rademakers R, Kim J, Wang Y, Höglinger GU, Müller U, Ferrari R, Hardy J; International FTD-Genomics Consortium (IFGC); Momeni P, Sugrue LP, Hess CP, James Barkovich A, Boxer AL, Seeley WW, Rabinovici GD, Rosen HJ, Miller BL, Schmansky NJ, Fischl B, Hyman BT, Dickson DW, Schellenberg GD, Andreassen OA, Dale AM, Desikan RS. Shared genetic risk between corticobasal degeneration, progressive supranuclear palsy, and frontotemporal dementia. Acta Neuropathol. 2017 May;133(5):825-837. doi: 10.1007/s00401-017-1693-y. Epub 2017 Mar 7.
Fernández-Fournier M, Perry DC, Tartaglia MC, de May M, Boxer A, Coppola G, Christine CW, Huang EJ, Seeley WW, Miller BL, DeArmond SJ, Grinberg LT, Geschwind MD. Precipitous Deterioration of Motor Function, Cognition, and Behavior. JAMA Neurol. 2017 May 1;74(5):591-596. doi: 10.1001/jamaneurol.2016.6159.
Crutch SJ, Schott JM, Rabinovici GD, Murray M, Snowden JS, van der Flier WM, Dickerson BC, Vandenberghe R, Ahmed S, Bak TH, Boeve BF, Butler C, Cappa SF, Ceccaldi M, de Souza LC, Dubois B, Felician O, Galasko D, Graff-Radford J, Graff-Radford NR, Hof PR, Krolak-Salmon P, Lehmann M, Magnin E, Mendez MF, Nestor PJ, Onyike CU, Pelak VS, Pijnenburg Y, Primativo S, Rossor MN, Ryan NS, Scheltens P, Shakespeare TJ, Suárez González A, Tang-Wai DF, Yong KXX, Carrillo M, Fox NC; Alzheimer's Association ISTAART Atypical Alzheimer's Disease and Associated Syndromes Professional Interest Area. Consensus classification of posterior cortical atrophy. Alzheimers Dement. 2017 Aug;13(8):870-884. doi: 10.1016/j.jalz.2017.01.014. Epub 2017 Mar 2.
Spinelli EG, Mandelli ML, Miller ZA, Santos-Santos MA, Wilson SM, Agosta F, Grinberg LT, Huang EJ, Trojanowski JQ, Meyer M, Henry ML, Comi G, Rabinovici G, Rosen HJ, Filippi M, Miller BL, Seeley WW, Gorno-Tempini ML. Typical and atypical pathology in primary progressive aphasia variants. Ann Neurol. 2017 Mar;81(3):430-443. doi: 10.1002/ana.24885. Epub 2017 Mar 20.
Spina S, Schonhaut DR, Boeve BF, Seeley WW, Ossenkoppele R, O'Neil JP, Lazaris A, Rosen HJ, Boxer AL, Perry DC, Miller BL, Dickson DW, Parisi JE, Jagust WJ, Murray ME, Rabinovici GD. Frontotemporal dementia with the V337M MAPT mutation: Tau-PET and pathology correlations. Neurology. 2017 Feb 21;88(8):758-766. doi: 10.1212/WNL.0000000000003636. Epub 2017 Jan 27.
Chen J, Yu JT, Wojta K, Wang HF, Zetterberg H, Blennow K, Yokoyama JS, Weiner MW, Kramer JH, Rosen H, Miller BL, Coppola G, Boxer AL; Alzheimer's Disease Neuroimaging Initiative. Genome-wide association study identifies MAPT locus influencing human plasma tau levels. Neurology. 2017 Feb 14;88(7):669-676. doi: 10.1212/WNL.0000000000003615. Epub 2017 Jan 18.
Gendron TF; C9ORF72 Neurofilament Study Group, Daughrity LM, Heckman MG, Diehl NN, Wuu J, Miller TM, Pastor P, Trojanowski JQ, Grossman M, Berry JD, Hu WT, Ratti A, Benatar M, Silani V, Glass JD, Floeter MK, Jeromin A, Boylan KB, Petrucelli L. Phosphorylated neurofilament heavy chain: A biomarker of survival for C9ORF72-associated amyotrophic lateral sclerosis. Ann Neurol. 2017 Jul;82(1):139-146. doi: 10.1002/ana.24980. PMID: 28628244; PMCID: PMC5676468.
Seo SW, Ayakta N, Grinberg LT, Villeneuve S, Lehmann M, Reed B, DeCarli C, Miller BL, Rosen HJ, Boxer AL, O'Neil JP, Jin LW, Seeley WW, Jagust WJ, Rabinovici GD. Regional correlations between [(11)C]PIB PET and post-mortem burden of amyloid-beta pathology in a diverse neuropathological cohort. Neuroimage Clin. 2016 Nov 11;13:130-137. doi: 10.1016/j.nicl.2016.11.008. eCollection 2017.
Miller ZA, Sturm VE, Camsari GB, Karydas A, Yokoyama JS, Grinberg LT, Boxer AL, Rosen HJ, Rankin KP, Gorno-Tempini ML, Coppola G, Geschwind DH, Rademakers R, Seeley WW, Graff-Radford NR, Miller BL. Increased prevalence of autoimmune disease within C9 and FTD/MND cohorts: Completing the picture. Neurol Neuroimmunol Neuroinflamm. 2016 Oct 28;3(6):e301. doi: 10.1212/NXI.0000000000000301. eCollection 2016 Dec.
Kantarci K, Lesnick T, Ferman TJ, Przybelski SA, Boeve BF, Smith GE, Kremers WK, Knopman DS, Jack CR Jr, Petersen RC. Hippocampal volumes predict risk of dementia with Lewy bodies in mild cognitive impairment. Neurology. 2016 Nov 29;87(22):2317-2323. doi: 10.1212/WNL.0000000000003371. Epub 2016 Nov 2.
Dutt S, Binney RJ, Heuer HW, Luong P, Attygalle S, Bhatt P, Marx GA, Elofson J, Tartaglia MC, Litvan I, McGinnis SM, Dickerson BC, Kornak J, Waltzman D, Voltarelli L, Schuff N, Rabinovici GD, Kramer JH, Jack CR Jr, Miller BL, Rosen HJ, Boxer AL; AL-108-231 investigators. Progression of brain atrophy in PSP and CBS over 6 months and 1 year. Neurology. 2016 Nov 8;87(19):2016-2025. doi: 10.1212/WNL.0000000000003305. Epub 2016 Oct 14.
Bertoux M, Sarazin M, Pasquier F, Bottlaender M, de Souza LC, Mioshi E, Hornberger M, Ranasinghe KG, Rankin KP, Lobach IV, Kramer JH, Sturm VE, Bettcher BM, Possin K, You SC, Lamarre AK, Shany-Ur T, Stephens ML, Perry DC, Lee SE, Miller ZA, Gorno-Tempini ML, Rosen HJ, Boxer A, Seeley WW, Rabinovici GD, Vossel KA, Miller BL. Cognition and neuropsychiatry in behavioral variant frontotemporal dementia by disease stage. Neurology. 2016 Oct 4;87(14):1523. doi: 10.1212/01.wnl.0000503343.29930.76.
Goetzl EJ, Kapogiannis D, Schwartz JB, Lobach IV, Goetzl L, Abner EL, Jicha GA, Karydas AM, Boxer A, Miller BL. Decreased synaptic proteins in neuronal exosomes of frontotemporal dementia and Alzheimer's disease. FASEB J. 2016 Dec;30(12):4141-4148. doi: 10.1096/fj.201600816R. Epub 2016 Sep 6.
Nandipati S, Litvan I. Environmental Exposures and Parkinson's Disease. Int J Environ Res Public Health. 2016 Sep 3;13(9):881. doi: 10.3390/ijerph13090881.
Block NR, Sha SJ, Karydas AM, Fong JC, De May MG, Miller BL, Rosen HJ. Frontotemporal Dementia and Psychiatric Illness: Emerging Clinical and Biological Links in Gene Carriers. Am J Geriatr Psychiatry. 2016 Feb;24(2):107-16. doi: 10.1016/j.jagp.2015.04.007. Epub 2015 Jun 21.
Walsh CM, Ruoff L, Varbel J, Walker K, Grinberg LT, Boxer AL, Kramer JH, Miller BL, Neylan TC. Rest-activity rhythm disruption in progressive supranuclear palsy. Sleep Med. 2016 Jun;22:50-56. doi: 10.1016/j.sleep.2016.05.002. Epub 2016 Jun 21.
Walton RL, Soto-Ortolaza AI, Murray ME, Lorenzo-Betancor O, Ogaki K, Heckman MG, Rayaprolu S, Rademakers R, Ertekin-Taner N, Uitti RJ, van Gerpen JA, Wszolek ZK, Smith GE, Kantarci K, Lowe VJ, Parisi JE, Jones DT, Savica R, Graff-Radford J, Knopman DS, Petersen RC, Graff-Radford NR, Ferman TJ, Dickson DW, Boeve BF, Ross OA, Labbé C. TREM2 p.R47H substitution is not associated with dementia with Lewy bodies. Neurol Genet. 2016 Jul 14;2(4):e85. doi: 10.1212/NXG.0000000000000085. eCollection 2016 Aug.
Ranasinghe KG, Rankin KP, Pressman PS, Perry DC, Lobach IV, Seeley WW, Coppola G, Karydas AM, Grinberg LT, Shany-Ur T, Lee SE, Rabinovici GD, Rosen HJ, Gorno-Tempini ML, Boxer AL, Miller ZA, Chiong W, DeMay M, Kramer JH, Possin KL, Sturm VE, Bettcher BM, Neylan M, Zackey DD, Nguyen LA, Ketelle R, Block N, Wu TQ, Dallich A, Russek N, Caplan A, Geschwind DH, Vossel KA, Miller BL. Distinct Subtypes of Behavioral Variant Frontotemporal Dementia Based on Patterns of Network Degeneration. JAMA Neurol. 2016 Sep 1;73(9):1078-88. doi: 10.1001/jamaneurol.2016.2016.
Hewer S, Varley S, Boxer AL, Paul E, Williams DR; AL-108-231 Investigators. Minimal clinically important worsening on the progressive supranuclear Palsy Rating Scale. Mov Disord. 2016 Oct;31(10):1574-1577. doi: 10.1002/mds.26694.
Zhang Y, Walter R, Ng P, Luong PN, Dutt S, Heuer H, Rojas-Rodriguez JC, Tsai R, Litvan I, Dickerson BC, Tartaglia MC, Rabinovici G, Miller BL, Rosen HJ, Schuff N, Boxer AL. Progression of Microstructural Degeneration in Progressive Supranuclear Palsy and Corticobasal Syndrome: A Longitudinal Diffusion Tensor Imaging Study. PLoS One. 2016 Jun 16;11(6):e0157218. doi: 10.1371/journal.pone.0157218. eCollection 2016.
Tsai RM, Boxer AL. Therapy and clinical trials in frontotemporal dementia: past, present, and future. J Neurochem. 2016 Aug;138 Suppl 1(Suppl 1):211-21. doi: 10.1111/jnc.13640. Epub 2016 Jun 15.
Jaeger PA, Lucin KM, Britschgi M, Vardarajan B, Huang RP, Kirby ED, Abbey R, Boeve BF, Boxer AL, Farrer LA, Finch N, Graff-Radford NR, Head E, Hofree M, Huang R, Johns H, Karydas A, Knopman DS, Loboda A, Masliah E, Narasimhan R, Petersen RC, Podtelezhnikov A, Pradhan S, Rademakers R, Sun CH, Younkin SG, Miller BL, Ideker T, Wyss-Coray T. Erratum to: Network-driven plasma proteomics expose molecular changes in the Alzheimer's brain. Mol Neurodegener. 2016 May 23;11(1):42. doi: 10.1186/s13024-016-0105-4.
Bang J, Lobach IV, Lang AE, Grossman M, Knopman DS, Miller BL, Schneider LS, Doody RS, Lees A, Gold M, Morimoto BH, Boxer AL; AL-108-231 Investigators. Predicting disease progression in progressive supranuclear palsy in multicenter clinical trials. Parkinsonism Relat Disord. 2016 Jul;28:41-48. doi: 10.1016/j.parkreldis.2016.04.014. Epub 2016 Apr 18.
Tsai RM, Lobach I, Bang J, Whitwell JL, Senjem ML, Jack CR Jr, Rosen H, Miller B, Boxer AL; AL-108-231 Investigators. Clinical correlates of longitudinal brain atrophy in progressive supranuclear palsy. Parkinsonism Relat Disord. 2016 Jul;28:29-35. doi: 10.1016/j.parkreldis.2016.04.006. Epub 2016 Apr 24.
Espay AJ, Bonato P, Nahab FB, Maetzler W, Dean JM, Klucken J, Eskofier BM, Merola A, Horak F, Lang AE, Reilmann R, Giuffrida J, Nieuwboer A, Horne M, Little MA, Litvan I, Simuni T, Dorsey ER, Burack MA, Kubota K, Kamondi A, Godinho C, Daneault JF, Mitsi G, Krinke L, Hausdorff JM, Bloem BR, Papapetropoulos S; Movement Disorders Society Task Force on Technology. Technology in Parkinson's disease: Challenges and opportunities. Mov Disord. 2016 Sep;31(9):1272-82. doi: 10.1002/mds.26642. Epub 2016 Apr 29.
Santos-Santos MA, Mandelli ML, Binney RJ, Ogar J, Wilson SM, Henry ML, Hubbard HI, Meese M, Attygalle S, Rosenberg L, Pakvasa M, Trojanowski JQ, Grinberg LT, Rosen H, Boxer AL, Miller BL, Seeley WW, Gorno-Tempini ML. Features of Patients With Nonfluent/Agrammatic Primary Progressive Aphasia With Underlying Progressive Supranuclear Palsy Pathology or Corticobasal Degeneration. JAMA Neurol. 2016 Jun 1;73(6):733-42. doi: 10.1001/jamaneurol.2016.0412.
Besser LM, Litvan I, Monsell SE, Mock C, Weintraub S, Zhou XH, Kukull W. Mild cognitive impairment in Parkinson's disease versus Alzheimer's disease. Parkinsonism Relat Disord. 2016 Jun;27:54-60. doi: 10.1016/j.parkreldis.2016.04.007. Epub 2016 Apr 9.
Boman A, Svensson S, Boxer A, Rojas JC, Seeley WW, Karydas A, Miller B, Kågedal K, Svenningsson P. Distinct Lysosomal Network Protein Profiles in Parkinsonian Syndrome Cerebrospinal Fluid. J Parkinsons Dis. 2016 Apr 2;6(2):307-15. doi: 10.3233/JPD-150759.
Rojas JC, Karydas A, Bang J, Tsai RM, Blennow K, Liman V, Kramer JH, Rosen H, Miller BL, Zetterberg H, Boxer AL. Plasma neurofilament light chain predicts progression in progressive supranuclear palsy. Ann Clin Transl Neurol. 2016 Feb 1;3(3):216-25. doi: 10.1002/acn3.290. eCollection 2016 Mar.
Onyike CU. Psychiatric Aspects of Dementia. Continuum (Minneap Minn). 2016 Apr;22(2 Dementia):600-14. doi: 10.1212/CON.0000000000000302.
Stamelou M, Schöpe J, Wagenpfeil S, Del Ser T, Bang J, Lobach IY, Luong P, Respondek G, Oertel WH, Boxer A, Höglinger GU; AL-108-231 Investigators, Tauros Investigators, and MDS-Endorsed PSP Study Group. Power calculations and placebo effect for future clinical trials in progressive supranuclear palsy. Mov Disord. 2016 May;31(5):742-7. doi: 10.1002/mds.26580. Epub 2016 Mar 7.
Brody DM, Litvan I, Warner S, Riley DE, Hall DA, Kluger BM, Shprecher DR, Cunningham CR. Relationship between uric acid levels and progressive supranuclear palsy. Mov Disord. 2016 May;31(5):663-7. doi: 10.1002/mds.26535. Epub 2016 Feb 18.
Litvan I, Lees PS, Cunningham CR, Rai SN, Cambon AC, Standaert DG, Marras C, Juncos J, Riley D, Reich S, Hall D, Kluger B, Bordelon Y, Shprecher DR; for ENGENE-PSP. Environmental and occupational risk factors for progressive supranuclear palsy: Case-control study. Mov Disord. 2016 May;31(5):644-52. doi: 10.1002/mds.26512. Epub 2016 Feb 8.
Ranasinghe KG, Rankin KP, Lobach IV, Kramer JH, Sturm VE, Bettcher BM, Possin K, Christine You S, Lamarre AK, Shany-Ur T, Stephens ML, Perry DC, Lee SE, Miller ZA, Gorno-Tempini ML, Rosen HJ, Boxer A, Seeley WW, Rabinovici GD, Vossel KA, Miller BL. Cognition and neuropsychiatry in behavioral variant frontotemporal dementia by disease stage. Neurology. 2016 Feb 16;86(7):600-10. doi: 10.1212/WNL.0000000000002373. Epub 2016 Jan 22.
Rojas JC, Boxer AL. Neurodegenerative disease in 2015: Targeting tauopathies for therapeutic translation. Nat Rev Neurol. 2016 Feb;12(2):74-6. doi: 10.1038/nrneurol.2016.5. Epub 2016 Jan 22.
Fredericks CA, Koestler M, Seeley W, Miller B, Boxer A, Grinberg LT. Primary chronic traumatic encephalopathy in an older patient with late-onset AD phenotype. Neurol Clin Pract. 2015 Dec;5(6):475-479. doi: 10.1212/CPJ.0000000000000161.
Finger EC, MacKinley J, Blair M, Oliver LD, Jesso S, Tartaglia MC, Borrie M, Wells J, Dziobek I, Pasternak S, Mitchell DG, Rankin K, Kertesz A, Boxer A. Oxytocin for frontotemporal dementia: a randomized dose-finding study of safety and tolerability. Neurology. 2015 Jan 13;84(2):174-81. doi: 10.1212/WNL.0000000000001133. Epub 2014 Dec 10.
Iglesias JE, Sabuncu MR, Aganj I, Bhatt P, Casillas C, Salat D, Boxer A, Fischl B, Van Leemput K. An algorithm for optimal fusion of atlases with different labeling protocols. Neuroimage. 2015 Feb 1;106:451-63. doi: 10.1016/j.neuroimage.2014.11.031. Epub 2014 Nov 22.
McCarter SJ, Tippmann-Peikert M, Sandness DJ, Flanagan EP, Kantarci K, Boeve BF, Silber MH, St Louis EK. Neuroimaging-evident lesional pathology associated with REM sleep behavior disorder. Sleep Med. 2015 Dec;16(12):1502-10. doi: 10.1016/j.sleep.2015.07.018. Epub 2015 Sep 14.
Fiandaca MS, Kapogiannis D, Mapstone M, Boxer A, Eitan E, Schwartz JB, Abner EL, Petersen RC, Federoff HJ, Miller BL, Goetzl EJ. Identification of preclinical Alzheimer's disease by a profile of pathogenic proteins in neurally derived blood exosomes: A case-control study. Alzheimers Dement. 2015 Jun;11(6):600-7.e1. doi: 10.1016/j.jalz.2014.06.008. Epub 2014 Aug 15.
Goetzl EJ, Boxer A, Schwartz JB, Abner EL, Petersen RC, Miller BL, Carlson OD, Mustapic M, Kapogiannis D. Low neural exosomal levels of cellular survival factors in Alzheimer's disease. Ann Clin Transl Neurol. 2015 Jul;2(7):769-73. doi: 10.1002/acn3.211. Epub 2015 May 13.
Gungor I, Sarro L, Graff-Radford J, Zuk SM, Tosakulwong N, Przybelski SA, Lesnick T, Boeve BF, Ferman TJ, Smith GE, Knopman DS, Filippi M, Petersen RC, Jack CR Jr, Kantarci K. Frequency and topography of cerebral microbleeds in dementia with Lewy bodies compared to Alzheimer's disease. Parkinsonism Relat Disord. 2015 Sep;21(9):1101-4. doi: 10.1016/j.parkreldis.2015.07.008. Epub 2015 Jul 14.
Spinelli EG, Caso F, Agosta F, Gambina G, Magnani G, Canu E, Blasi V, Perani D, Comi G, Falini A, Gorno-Tempini ML, Filippi M. A multimodal neuroimaging study of a case of crossed nonfluent/agrammatic primary progressive aphasia. J Neurol. 2015 Oct;262(10):2336-45. doi: 10.1007/s00415-015-7845-x. Epub 2015 Jul 21.
Goetzl EJ, Boxer A, Schwartz JB, Abner EL, Petersen RC, Miller BL, Kapogiannis D. Altered lysosomal proteins in neural-derived plasma exosomes in preclinical Alzheimer disease. Neurology. 2015 Jul 7;85(1):40-7. doi: 10.1212/WNL.0000000000001702. Epub 2015 Jun 10.
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Iglesias JE, Van Leemput K, Bhatt P, Casillas C, Dutt S, Schuff N, Truran-Sacrey D, Boxer A, Fischl B; Alzheimer's Disease Neuroimaging Initiative. Bayesian segmentation of brainstem structures in MRI. Neuroimage. 2015 Jun;113:184-95. doi: 10.1016/j.neuroimage.2015.02.065. Epub 2015 Mar 14.
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Lee SE, Khazenzon AM, Trujillo AJ, Guo CC, Yokoyama JS, Sha SJ, Takada LT, Karydas AM, Block NR, Coppola G, Pribadi M, Geschwind DH, Rademakers R, Fong JC, Weiner MW, Boxer AL, Kramer JH, Rosen HJ, Miller BL, Seeley WW. Altered network connectivity in frontotemporal dementia with C9orf72 hexanucleotide repeat expansion. Brain. 2014 Nov;137(Pt 11):3047-60. doi: 10.1093/brain/awu248. Epub 2014 Oct 1.
Coon EA, Badihian N, McCarter SJ, Sletten DM, Berini SE, Benarroch EE, Sandroni P, Low PA, Singer W.. The phenotype of "pure" autonomic failure. Clin Auton Res. 2025 Jun;35(3):477-485. doi: 10.1007/s10286-025-01121-z. Epub 2025 Mar 7.
Trujillo P, O'Rourke KR, Roman OC, Song AK, Hett K, Cooper A, Black BK, Donahue MJ, Shibao CA, Biaggioni I, Claassen DO. Central Involvement in Pure Autonomic Failure: Insights from Neuromelanin-Sensitive Magnetic Resonance Imaging and (18)F-Fluorodopa-Positron Emission Tomography. Mov Disord. 2025 Apr;40(4):716-726. doi: 10.1002/mds.30119. Epub 2025 Jan 18.
Badihian N, Savica R, Adler CH, Wszolek ZK, Jackson LM, Benarroch EE, Sandroni P, Low PA, Singer W, Coon EA. Clinical Characteristics and Outcomes in Young-Onset Multiple System Atrophy. Mov Disord Clin Pract. 2024 Mar;11(3):220-226. doi: 10.1002/mdc3.13925. Epub 2023 Nov 23.
Millar Vernetti P, Norcliffe-Kaufmann L, Palma JA, Biaggioni I, Shibao CA, Peltier A, Freeman R, Gibbons C, Goldstein DS, Low PA, Singer W, Coon EA, Miglis MG, Wenning GK, Fanciulli A, Vernino S, Betensky RA, Kaufmann H. Phenoconversion in pure autonomic failure: a multicentre prospective longitudinal cohort study. Brain. 2024 Jul 5;147(7):2440-2448. doi: 10.1093/brain/awae033.
Castro RA, Vernetti PM, Biaggioni I, Raj SR, Kaufmann H, Shibao CA. Long-Term Outcomes of Hyperadrenergic Orthostatic Hypotension. Res Sq. 2023 Sep 11:rs.3.rs-3318273. doi: 10.21203/rs.3.rs-3318273/v1.
Gibbons C, Wang N, Rajan S, Kern D, Palma JA, Kaufmann H, Freeman R. Cutaneous α-Synuclein Signatures in Patients With Multiple System Atrophy and Parkinson Disease. Neurology. 2023 Apr 11;100(15):e1529-e1539. doi: 10.1212/WNL.0000000000206772. Epub 2023 Jan 19.
Okamoto LE, Celedonio JE, Smith EC, Paranjape SY, Black BK, Wahba A, Park JW, Shibao CA, Diedrich A, Biaggioni I. Continuous Positive Airway Pressure for the Treatment of Supine Hypertension and Orthostatic Hypotension in Autonomic Failure. Hypertension. 2023 Mar;80(3):650-658. doi: 10.1161/HYPERTENSIONAHA.122.20081. Epub 2023 Jan 5.
Okamoto LE, Dupont WD, Biaggioni I, Kronenberg MW. Correction to: Effect of nitroglycerin on splanchnic and pulmonary blood volume. J Nucl Cardiol. 2022 Apr;29(2):891. doi: 10.1007/s12350-021-02868-4.
Badihian N, Jackson LM, Klassen BT, Hassan A, Low PA, Singer W, Coon EA. The Effects of Deep Brain Stimulation in Patients with Multiple System Atrophy. J Parkinsons Dis. 2022;12(8):2595-2600. doi: 10.3233/JPD-223504.
Lamotte G, Coon EA, Suarez MD, Sandroni P, Benarroch E, Cutsforth-Gregory JK, Mauermann ML, Berini SE, Shouman K, Sletten D, Goodman BP, Low PA, Singer W. Standardized Autonomic Testing in Patients With Probable Radiation-Induced Afferent Baroreflex Failure. Hypertension. 2022 Jan;79(1):50-56. doi: 10.1161/HYPERTENSIONAHA.121.17805. Epub 2021 Nov 5.
Okamoto LE, Dupont WD, Biaggioni I, Kronenberg MW. Effect of nitroglycerin on splanchnic and pulmonary blood volume. J Nucl Cardiol. 2022 Dec;29(6):2952-2963. doi: 10.1007/s12350-021-02811-7. Epub 2021 Nov 2.
Norcliffe-Kaufmann L, Palma JA, Kaufmann H. Reply: Is postural tachycardia syndrome a psychogenic disorder?; Notes on establishing fear conditioning as causal in the postural orthostatic tachycardia syndrome; Patients with POTS fear that data on abnormal haemodynamic physiology have been ignored; and 'Psychogenic' POTS: the NYU team misinterprets association as causation. Brain. 2022 Nov 21;145(11):e113-e114. doi: 10.1093/brain/awac349.
Kleykamp BA, Dworkin RH, Turk DC, Bhagwagar Z, Cowan P, Eccleston C, Ellenberg SS, Evans SR, Farrar JT, Freeman RL, Garrison LP, Gewandter JS, Goli V, Iyengar S, Jadad AR, Jensen MP, Junor R, Katz NP, Kesslak JP, Kopecky EA, Lissin D, Markman JD, McDermott MP, Mease PJ, O'Connor AB, Patel KV, Raja SN, Rowbotham MC, Sampaio C, Singh JA, Steigerwald I, Strand V, Tive LA, Tobias J, Wasan AD, Wilson HD. Benefit-risk assessment and reporting in clinical trials of chronic pain treatments: IMMPACT recommendations. Pain. 2022 Jun 1;163(6):1006-1018. doi: 10.1097/j.pain.0000000000002475. Epub 2021 Sep 9.
Vemuri P, Castillo AM, Thostenson KB, Ward CP, Raghavan S, Reid RI, Lesnick TG, Reddy AL, Gehrking TL, Gehrking JA, Sletten DM, Jack CR Jr, Low PA, Singer W. Imaging biomarkers for early multiple system atrophy. Parkinsonism Relat Disord. 2022 Oct;103:60-68. doi: 10.1016/j.parkreldis.2022.08.028. Epub 2022 Aug 28.
Wahba A, Shibao CA, Muldowney JAS, Peltier A, Habermann R, Biaggioni I. Management of Orthostatic Hypotension in the Hospitalized Patient: A Narrative Review. Am J Med. 2022 Jan;135(1):24-31. doi: 10.1016/j.amjmed.2021.07.030. Epub 2021 Aug 18.
Wieling W, Kaufmann H, Claydon VE, van Wijnen VK, Harms MPM, Juraschek SP, Thijs RD. Diagnosis and treatment of orthostatic hypotension. Lancet Neurol. 2022 Aug;21(8):735-746. doi: 10.1016/S1474-4422(22)00169-7.
Norcliffe-Kaufmann L, Palma JA, Martinez J, Camargo C, Kaufmann H. Fear conditioning as a pathogenic mechanism in the postural tachycardia syndrome. Brain. 2022 Nov 21;145(11):3763-3769. doi: 10.1093/brain/awac249.
Park JW, Okamoto LE, Biaggioni I. Advances in the Pathophysiology and Management of Supine Hypertension in Patients with Neurogenic Orthostatic Hypotension. Curr Hypertens Rep. 2022 Mar;24(3):45-54. doi: 10.1007/s11906-022-01168-7. Epub 2022 Mar 1.
Goldstein DS, Isonaka R, Lamotte G, Kaufmann H. Different phenoconversion pathways in pure autonomic failure with versus without Lewy bodies. Clin Auton Res. 2021 Dec;31(6):677-684. doi: 10.1007/s10286-021-00829-y. Epub 2021 Oct 20.
Ramprasad C, Norcliffe-Kaufmann L, Palma JA, Levy J, Zhang Y, Spalink CL, Khan A, Smukalla S, Kaufmann H, Chen LA. Frequency and burden of gastrointestinal symptoms in familial dysautonomia. Clin Auton Res. 2021 Feb;31(1):109-116. doi: 10.1007/s10286-020-00735-9. Epub 2020 Oct 6.
Miglis MG, Zitser J, Schneider L, During E, Jaradeh S, Freeman R, Gibbons CH. Cutaneous α-synuclein is correlated with autonomic impairment in isolated rapid eye movement sleep behavior disorder. Sleep. 2021 Dec 10;44(12):zsab172. doi: 10.1093/sleep/zsab172.
Dutta S, Hornung S, Kruayatidee A, Maina KN, Del Rosario I, Paul KC, Wong DY, Duarte Folle A, Markovic D, Palma JA, Serrano GE, Adler CH, Perlman SL, Poon WW, Kang UJ, Alcalay RN, Sklerov M, Gylys KH, Kaufmann H, Fogel BL, Bronstein JM, Ritz B, Bitan G. α-Synuclein in blood exosomes immunoprecipitated using neuronal and oligodendroglial markers distinguishes Parkinson's disease from multiple system atrophy. Acta Neuropathol. 2021 Sep;142(3):495-511. doi: 10.1007/s00401-021-02324-0. Epub 2021 May 15.
Lamotte G, Coon EA, Suarez MD, Sandroni P, Benarroch EE, Cutsforth-Gregory JK, Mauermann ML, Berini SE, Shouman K, Sletten D, Goodman BP, Low PA, Singer W. Natural History of Afferent Baroreflex Failure in Adults. Neurology. 2021 Jul 13;97(2):e136-e144. doi: 10.1212/WNL.0000000000012149. Epub 2021 May 4.
Lamotte G, Sandroni P, Cutsforth-Gregory JK, Berini SE, Benarroch EE, Shouman K, Mauermann ML, Anderson J, Low PA, Singer W, Coon EA. Clinical presentation and autonomic profile in Ross syndrome. J Neurol. 2021 Oct;268(10):3852-3860. doi: 10.1007/s00415-021-10531-8. Epub 2021 Apr 3.
Schmeichel AM, Coon EA, Parisi JE, Singer W, Low PA, Benarroch EE. Loss of putative GABAergic neurons in the ventrolateral medulla in multiple system atrophy. Sleep. 2021 Sep 13;44(9):zsab074. doi: 10.1093/sleep/zsab074.
Okamoto LE, Celedonio JE, Smith EC, Gamboa A, Shibao CA, Diedrich A, Paranjape SY, Black BK, Muldowney JAS 3rd, Peltier AC, Habermann R, Crandall CG, Biaggioni I. Local Passive Heat for the Treatment of Hypertension in Autonomic Failure. J Am Heart Assoc. 2021 Apr 6;10(7):e018979. doi: 10.1161/JAHA.120.018979. Epub 2021 Mar 19.
Lamotte G, Boes CJ, Low PA, Coon EA. The expanding role of the cold pressor test: a brief history. Clin Auton Res. 2021 Apr;31(2):153-155. doi: 10.1007/s10286-021-00796-4. Epub 2021 Mar 13.
Idiaquez JF, Idiaquez J, Casar JC, Biaggioni I. Neurogenic Orthostatic Hypotension. Lessons From Synucleinopathies. Am J Hypertens. 2021 Mar 11;34(2):125-133. doi: 10.1093/ajh/hpaa131.
Palma JA, Vernetti PM, Perez MA, Krismer F, Seppi K, Fanciulli A, Singer W, Low P, Biaggioni I, Norcliffe-Kaufmann L, Pellecchia MT, Martí MJ, Kim HJ, Merello M, Stankovic I, Poewe W, Betensky R, Wenning G, Kaufmann H. Limitations of the Unified Multiple System Atrophy Rating Scale as outcome measure for clinical trials and a roadmap for improvement. Clin Auton Res. 2021 Apr;31(2):157-164. doi: 10.1007/s10286-021-00782-w. Epub 2021 Feb 7.
Lamotte G, Benarroch EE, Coon EA. Paroxysmal hypothermia and hyperhidrosis with exacerbation after COVID-19 Infection. Clin Auton Res. 2021 Apr;31(2):327-329. doi: 10.1007/s10286-021-00783-9. Epub 2021 Feb 2.
Wernick AI, Walton RL, Soto-Beasley AI, Koga S, Heckman MG, Valentino RR, Milanowski LM, Hoffman-Zacharska D, Koziorowski D, Hassan A, Uitti RJ, Cheshire WP, Singer W, Wszolek ZK, Dickson DW, Low PA, Ross OA. Frequency of spinocerebellar ataxia mutations in patients with multiple system atrophy. Clin Auton Res. 2021 Feb;31(1):117-125. doi: 10.1007/s10286-020-00759-1. Epub 2021 Jan 27.
Shibao CA, Garland EM, Black BK, Mathias CJ, Grant MB, Root AW, Robertson D, Biaggioni I. Congenital absence of norepinephrine due to CYB561 mutations. Neurology. 2020 Jan 14;94(2):e200-e204. doi: 10.1212/WNL.0000000000008734. Epub 2019 Dec 10.
Palma JA, Gupta A, Sierra S, Gomes I, Balgobin B, Norcliffe-Kaufmann L, Devi LA, Kaufmann H. Autoantibodies Blocking M(3) Muscarinic Receptors Cause Postganglionic Cholinergic Dysautonomia. Ann Neurol. 2020 Dec;88(6):1237-1243. doi: 10.1002/ana.25882. Epub 2020 Sep 10.
Palma JA, Kaufmann H. Orthostatic Hypotension in Parkinson Disease. Clin Geriatr Med. 2020 Feb;36(1):53-67. doi: 10.1016/j.cger.2019.09.002. Epub 2019 Sep 6.
Pellecchia MT, Stankovic I, Fanciulli A, Krismer F, Meissner WG, Palma JA, Panicker JN, Seppi K, Wenning GK; Members of the Movement Disorder Society Multiple System Atrophy Study Group. Can Autonomic Testing and Imaging Contribute to the Early Diagnosis of Multiple System Atrophy? A Systematic Review and Recommendations by the Movement Disorder Society Multiple System Atrophy Study Group. Mov Disord Clin Pract. 2020 Sep 3;7(7):750-762. doi: 10.1002/mdc3.13052. eCollection 2020 Oct.
Gutierrez J, Palma JA, Kaufmann H. Acute Sensory and Autonomic Neuronopathy: A Devastating Disorder Affecting Sensory and Autonomic Ganglia. Semin Neurol. 2020 Oct;40(5):580-590. doi: 10.1055/s-0040-1713843. Epub 2020 Sep 9.
Park JW, Okamoto LE, Shibao CA, Biaggioni I. Pharmacologic treatment of orthostatic hypotension. Auton Neurosci. 2020 Dec;229:102721. doi: 10.1016/j.autneu.2020.102721. Epub 2020 Aug 28.
Wang N, Garcia J, Freeman R, Gibbons CH. Phosphorylated Alpha-Synuclein Within Cutaneous Autonomic Nerves of Patients With Parkinson's Disease: The Implications of Sample Thickness on Results. J Histochem Cytochem. 2020 Oct;68(10):669-678. doi: 10.1369/0022155420960250. Epub 2020 Sep 14.
Norcliffe-Kaufmann L, Millar Vernetti P, Palma JA, Balgobin BJ, Kaufmann H. Afferent Baroreflex Dysfunction: Decreased or Excessive Signaling Results in Distinct Phenotypes. Semin Neurol. 2020 Oct;40(5):540-549. doi: 10.1055/s-0040-1713892. Epub 2020 Sep 9.
Palma JA, Kaufmann H. Clinical Trials for Neurogenic Orthostatic Hypotension: A Comprehensive Review of Endpoints, Pitfalls, and Challenges. Semin Neurol. 2020 Oct;40(5):523-539. doi: 10.1055/s-0040-1713846. Epub 2020 Sep 9.
Smith EC, Diedrich A, Raj SR, Gamboa A, Shibao CA, Black BK, Peltier A, Paranjape SY, Biaggioni I, Okamoto LE. Splanchnic Venous Compression Enhances the Effects of ß-Blockade in the Treatment of Postural Tachycardia Syndrome. J Am Heart Assoc. 2020 Jul 21;9(14):e016196. doi: 10.1161/JAHA.120.016196. Epub 2020 Jul 16.
Coon EA, Mandrekar JN, Berini SE, Benarroch EE, Sandroni P, Low PA, Singer W. Predicting phenoconversion in pure autonomic failure. Neurology. 2020 Aug 18;95(7):e889-e897. doi: 10.1212/WNL.0000000000010002. Epub 2020 Jun 16.
Palma JA, Redel-Traub G, Porciuncula A, Samaniego-Toro D, Millar Vernetti P, Lui YW, Norcliffe-Kaufmann L, Kaufmann H. The impact of supine hypertension on target organ damage and survival in patients with synucleinopathies and neurogenic orthostatic hypotension. Parkinsonism Relat Disord. 2020 Jun;75:97-104. doi: 10.1016/j.parkreldis.2020.04.011. Epub 2020 May 18.
Koga S, Roemer SF, Tipton PW, Low PA, Josephs KA, Dickson DW. Cerebrovascular pathology and misdiagnosis of multiple system atrophy: An autopsy study. Parkinsonism Relat Disord. 2020 Jun;75:34-40. doi: 10.1016/j.parkreldis.2020.05.018. Epub 2020 May 16.
McCarter SJ, Coon EA, Savica R, St Louis EK, Bower JH, Benarroch EE, Sandroni P, Low P, Singer W. Lower Vitamin B12 Level at Multiple System Atrophy Diagnosis Is Associated With Shorter Survival. Mov Disord. 2020 Aug;35(8):1462-1466. doi: 10.1002/mds.28070. Epub 2020 Apr 22.
Sohn E, Suh BC, Wang N, Freeman R, Gibbons CH. A novel method to quantify cutaneous vascular innervation. Muscle Nerve. 2020 Oct;62(4):492-501. doi: 10.1002/mus.26889. Epub 2020 May 5.
Martinez J, Palma JA, Norcliffe-Kaufmann L, Garakani A, Kaufmann H. Impact of depressive symptoms on self-perceived severity of autonomic dysfunction in multiple system atrophy: relevance for patient-reported outcomes in clinical trials. Clin Auton Res. 2020 Jun;30(3):215-221. doi: 10.1007/s10286-020-00681-6. Epub 2020 Apr 3.
Freeman R, Illigens BMW, Lapusca R, Campagnolo M, Abuzinadah AR, Bonyhay I, Sinn DI, Miglis M, White J, Gibbons CH. Symptom Recognition Is Impaired in Patients With Orthostatic Hypotension. Hypertension. 2020 May;75(5):1325-1332. doi: 10.1161/HYPERTENSIONAHA.119.13619. Epub 2020 Mar 30.
Sasaki H, Kawamura N, Dyck PJ, Dyck PJB, Kihara M, Low PA. Spectrum of diabetic neuropathies. Diabetol Int. 2020 Jan 8;11(2):87-96. doi: 10.1007/s13340-019-00424-7. eCollection 2020 Apr.
Palma JA. Renal dysfunction might be a marker of cardiovascular dysautonomia in prodromal α-synucleinopathies. Mov Disord. 2020 Feb;35(2):374. doi: 10.1002/mds.27840.
Shahnawaz M, Mukherjee A, Pritzkow S, Mendez N, Rabadia P, Liu X, Hu B, Schmeichel A, Singer W, Wu G, Tsai AL, Shirani H, Nilsson KPR, Low PA, Soto C. Discriminating α-synuclein strains in Parkinson's disease and multiple system atrophy. Nature. 2020 Feb;578(7794):273-277. doi: 10.1038/s41586-020-1984-7. Epub 2020 Feb 5.
Palma JA, Kaufmann H. Management of Orthostatic Hypotension. Continuum (Minneap Minn). 2020 Feb;26(1):154-177. doi: 10.1212/CON.0000000000000816.
Coon EA, Singer W. Synucleinopathies. Continuum (Minneap Minn). 2020 Feb;26(1):72-92. doi: 10.1212/CON.0000000000000819.
Okamoto LE, Shibao CA, Gamboa A, Diedrich A, Raj SR, Black BK, Robertson D, Biaggioni I. Synergistic Pressor Effect of Atomoxetine and Pyridostigmine in Patients With Neurogenic Orthostatic Hypotension. Hypertension. 2019 Jan;73(1):235-241. doi: 10.1161/HYPERTENSIONAHA.118.11790.
Corfits J, Singer W, Sandroni P, Fealey RD, Coon EA, Benarroch EE, Berini SE, Mauermann ML, Sletten DM, Cutsforth-Gregory JK, Schmelzer JD, Low PA. Elimination of spurious absent sweat response in QSWEAT recordings. Auton Neurosci. 2019 Dec;222:102589. doi: 10.1016/j.autneu.2019.102589. Epub 2019 Oct 23.
Isonaka R, Gibbons CH, Wang N, Freeman R, Goldstein DS. Association of innervation-adjusted alpha-synuclein in arrector pili muscles with cardiac noradrenergic deficiency in autonomic synucleinopathies. Clin Auton Res. 2019 Dec;29(6):587-593. doi: 10.1007/s10286-019-00644-6. Epub 2019 Oct 31.
Bar Aluma BE, Norcliffe-Kaufmann L, Sarouk I, Dagan A, Ashkenazi M, Bezalel Y, Vilozni D, Lahad A, Efrati O. Resting Energy Expenditure in Patients With Familial Dysautonomia: A Preliminary Study. J Pediatr Gastroenterol Nutr. 2019 Mar;68(3):422-427. doi: 10.1097/MPG.0000000000002180.
Coon EA, Rocca W, Melson CS, Ahlskog JE, Matsumoto JY, Low PA, Singer W. Conjugal multiple system atrophy: Chance, shared risk factors, or evidence of transmissibility?. Parkinsonism Relat Disord. 2019 Oct;67:10-13. doi: 10.1016/j.parkreldis.2019.09.011. Epub 2019 Sep 13.
Vurture G, Peyronnet B, Palma JA, Sussman RD, Malacarne DR, Feigin A, Palmerola R, Rosenblum N, Frucht S, Kaufmann H, Nitti VW, Brucker BM. Urodynamic Mechanisms Underlying Overactive Bladder Symptoms in Patients With Parkinson Disease. Int Neurourol J. 2019 Sep;23(3):211-218. doi: 10.5213/inj.1938086.043. Epub 2019 Sep 30.
Cortelli P, Calandra-Buonaura G, Benarroch EE, Giannini G, Iranzo A, Low PA, Martinelli P, Provini F, Quinn N, Tolosa E, Wenning GK, Abbruzzese G, Bower P, Alfonsi E, Ghorayeb I, Ozawa T, Pacchetti C, Pozzi NG, Vicini C, Antonini A, Bhatia KP, Bonavita J, Kaufmann H, Pellecchia MT, Pizzorni N, Schindler A, Tison F, Vignatelli L, Meissner WG. Stridor in multiple system atrophy: Consensus statement on diagnosis, prognosis, and treatment. Neurology. 2019 Oct 1;93(14):630-639. doi: 10.1212/WNL.0000000000008208.
McDonell KE, Shibao CA, Biaggioni I, Hartman A, Robertson D, Claassen DO. Cognitive and Behavioral Changes in Patients Treated With Droxidopa for Neurogenic Orthostatic Hypotension: A Retrospective Review. Cogn Behav Neurol. 2019 Sep;32(3):179-184. doi: 10.1097/WNN.0000000000000198.
Coon EA, Singer W, Low PA. Pure Autonomic Failure. Mayo Clin Proc. 2019 Oct;94(10):2087-2098. doi: 10.1016/j.mayocp.2019.03.009. Epub 2019 Sep 9.
Cutsforth-Gregory JK, Low PA. Neurogenic Orthostatic Hypotension in Parkinson Disease: A Primer. Neurol Ther. 2019 Dec;8(2):307-324. doi: 10.1007/s40120-019-00152-9. Epub 2019 Aug 27.
Palma JA, Gonzalez-Duarte A, Kaufmann H. Orthostatic hypotension in hereditary transthyretin amyloidosis: epidemiology, diagnosis and management. Clin Auton Res. 2019 Sep;29(Suppl 1):33-44. doi: 10.1007/s10286-019-00623-x. Epub 2019 Aug 26.
McDonell KE, Preheim BA, Diedrich A, Muldowney JAS 3rd, Peltier AC, Robertson D, Biaggioni I, Shibao CA. Initiation of droxidopa during hospital admission for management of refractory neurogenic orthostatic hypotension in severely ill patients. J Clin Hypertens (Greenwich). 2019 Sep;21(9):1308-1314. doi: 10.1111/jch.13619. Epub 2019 Aug 1.
Jackson L, Coon EA, Ahlskog JE, Bower JH, Sandroni P, Benarroch EE, Mandrekar JN, Low PA, Singer W. Earlier age of onset in multiple system atrophy with smoking and heavy alcohol use. Parkinsonism Relat Disord. 2019 Sep;66:212-215. doi: 10.1016/j.parkreldis.2019.07.015. Epub 2019 Jul 17.
Stankovic I, Quinn N, Vignatelli L, Antonini A, Berg D, Coon E, Cortelli P, Fanciulli A, Ferreira JJ, Freeman R, Halliday G, Höglinger GU, Iodice V, Kaufmann H, Klockgether T, Kostic V, Krismer F, Lang A, Levin J, Low P, Mathias C, Meissner WG, Kaufmann LN, Palma JA, Panicker JN, Pellecchia MT, Sakakibara R, Schmahmann J, Scholz SW, Singer W, Stamelou M, Tolosa E, Tsuji S, Seppi K, Poewe W, Wenning GK; Movement Disorder Society Multiple System Atrophy Study Group. A critique of the second consensus criteria for multiple system atrophy. Mov Disord. 2019 Jul;34(7):975-984. doi: 10.1002/mds.27701. Epub 2019 Apr 29.
Singer W, Dietz AB, Zeller AD, Gehrking TL, Schmelzer JD, Schmeichel AM, Gehrking JA, Suarez MD, Sletten DM, Minota Pacheco KV, Coon EA, Sandroni P, Benarroch EE, Fealey RD, Matsumoto JY, Bower JH, Hassan A, McKeon A, Windebank AJ, Mandrekar JN, Low PA. Intrathecal administration of autologous mesenchymal stem cells in multiple system atrophy. Neurology. 2019 Jul 2;93(1):e77-e87. doi: 10.1212/WNL.0000000000007720. Epub 2019 May 31.
Coon EA, Nelson RM, Sletten DM, Suarez MD, Ahlskog JE, Benarroch EE, Sandroni P, Mandrekar JN, Low PA, Singer W. Sex and gender influence symptom manifestation and survival in multiple system atrophy. Auton Neurosci. 2019 Jul;219:49-52. doi: 10.1016/j.autneu.2019.04.002. Epub 2019 Apr 24.
Riboldi GM, Palma JA, Cortes E, Iida MA, Sikder T, Henderson B, Raj T, Walker RH, Crary JF, Kaufmann H, Frucht S. Early-onset pathologically proven multiple system atrophy with LRRK2 G2019S mutation. Mov Disord. 2019 Jul;34(7):1080-1082. doi: 10.1002/mds.27710. Epub 2019 May 11.
Staff NP, Jones DT, Singer W. Mesenchymal Stromal Cell Therapies for Neurodegenerative Diseases. Mayo Clin Proc. 2019 May;94(5):892-905. doi: 10.1016/j.mayocp.2019.01.001.
Jordan J, Tank J, Heusser K, Reuter H, Biaggioni I. What do we really know about supine hypertension in patients with orthostatic hypotension. Curr Opin Cardiol. 2019 Jul;34(4):384-389. doi: 10.1097/HCO.0000000000000633.
Palma JA, Gileles-Hillel A, Norcliffe-Kaufmann L, Kaufmann H. Chemoreflex failure and sleep-disordered breathing in familial dysautonomia: Implications for sudden death during sleep. Auton Neurosci. 2019 May;218:10-15. doi: 10.1016/j.autneu.2019.02.003. Epub 2019 Feb 15.
Jordan J, Fanciulli A, Tank J, Calandra-Buonaura G, Cheshire WP, Cortelli P, Eschlboeck S, Grassi G, Hilz MJ, Kaufmann H, Lahrmann H, Mancia G, Mayer G, Norcliffe-Kaufmann L, Pavy-Le Traon A, Raj SR, Robertson D, Rocha I, Reuter H, Struhal W, Thijs RD, Tsioufis KP, Gert van Dijk J, Wenning GK, Biaggioni I. Management of supine hypertension in patients with neurogenic orthostatic hypotension: scientific statement of the American Autonomic Society, European Federation of Autonomic Societies, and the European Society of Hypertension. J Hypertens. 2019 Aug;37(8):1541-1546. doi: 10.1097/HJH.0000000000002078.
Minota K, Schmeichel AM, Gehrking JA, Mandrekar JN, Low PA, Singer W. Refined Quantitation of Sweat Gland Innervation. J Neuropathol Exp Neurol. 2019 May 1;78(5):453-459. doi: 10.1093/jnen/nlz015.
Won E, Palma JA, Kaufmann H, Milla SS, Cohen B, Norcliffe-Kaufmann L, Babb JS, Lui YW. Quantitative magnetic resonance evaluation of the trigeminal nerve in familial dysautonomia. Clin Auton Res. 2019 Aug;29(4):469-473. doi: 10.1007/s10286-019-00593-0. Epub 2019 Feb 19.
Kaufmann H, Norcliffe-Kaufmann L, Palma JA. Improvement of daytime hypercapnia with nocturnal non-invasive ventilation in familial dysautonomia. Clin Auton Res. 2019 Apr;29(2):255-256. doi: 10.1007/s10286-019-00590-3. Epub 2019 Jan 12.
Coon EA, Ahlskog JE, Silber MH, Fealey RD, Benarroch EE, Sandroni P, Mandrekar JN, Low PA, Singer W. Do selective serotonin reuptake inhibitors improve survival in multiple system atrophy?. Parkinsonism Relat Disord. 2018 Mar;48:51-53. doi: 10.1016/j.parkreldis.2017.12.011. Epub 2017 Dec 14.
Walsh RR, Krismer F, Galpern WR, Wenning GK, Low PA, Halliday G, Koroshetz WJ, Holton J, Quinn NP, Rascol O, Shaw LM, Eidelberg D, Bower P, Cummings JL, Abler V, Biedenharn J, Bitan G, Brooks DJ, Brundin P, Fernandez H, Fortier P, Freeman R, Gasser T, Hewitt A, Höglinger GU, Huentelman MJ, Jensen PH, Jeromin A, Kang UJ, Kaufmann H, Kellerman L, Khurana V, Klockgether T, Kim WS, Langer C, LeWitt P, Masliah E, Meissner W, Melki R, Ostrowitzki S, Piantadosi S, Poewe W, Robertson D, Roemer C, Schenk D, Schlossmacher M, Schmahmann JD, Seppi K, Shih L, Siderowf A, Stebbins GT, Stefanova N, Tsuji S, Sutton S, Zhang J. Recommendations of the Global Multiple System Atrophy Research Roadmap Meeting. Neurology. 2018 Jan 9;90(2):74-82. doi: 10.1212/WNL.0000000000004798. Epub 2017 Dec 13.
Bar-Aluma BE, Efrati O, Kaufmann H, Palma JA, Norcliffe-Kaufmann L. A Controlled Trial of Inhaled Bronchodilators in Familial Dysautonomia. Lung. 2018 Feb;196(1):93-101. doi: 10.1007/s00408-017-0073-7. Epub 2017 Dec 12.
Raj SR, Robertson D. Moving from the present to the future of Postural Tachycardia Syndrome - What we need. Auton Neurosci. 2018 Dec;215:126-128. doi: 10.1016/j.autneu.2018.06.007. Epub 2018 Jul 4.
Pavy-Le Traon A, Cotterill N, Amarenco G, Duerr S, Kaufmann H, Lahrmann H, Tison F, Wenning GK, Goetz CG, Poewe W, Sampaio C, Schrag A, Rascol O, Martinez-Martin P, Stebbins GT; Members of the MDS Committee on Rating Scales Development. Clinical Rating Scales for Urinary Symptoms in Parkinson Disease: Critique and Recommendations. Mov Disord Clin Pract. 2018 Oct 25;5(5):479-491. doi: 10.1002/mdc3.12636. eCollection 2018 Sep-Oct.
Palma JA, Spalink C, Barnes EP, Norcliffe-Kaufmann L, Kaufmann H. Neurogenic dysphagia with undigested macaroni and megaesophagus in familial dysautonomia. Clin Auton Res. 2018 Feb;28(1):125-126. doi: 10.1007/s10286-017-0487-6. Epub 2017 Dec 1.
Norcliffe-Kaufmann L, Palma JA, Kaufmann H. A validated test for neurogenic orthostatic hypotension at the bedside. Ann Neurol. 2018 Dec;84(6):959-960. doi: 10.1002/ana.25362.
Palma JA, Norcliffe-Kaufmann L, Kaufmann H. Diagnosis of multiple system atrophy. Auton Neurosci. 2018 May;211:15-25. doi: 10.1016/j.autneu.2017.10.007. Epub 2017 Oct 23.
Palma JA. Autonomic dysfunction in sleep disorders: introduction to the series. Clin Auton Res. 2018 Dec;28(6):507-508. doi: 10.1007/s10286-018-0571-6. Epub 2018 Oct 16.
Palma JA, Norcliffe-Kaufmann L, Martinez J, Kaufmann H. Supine plasma NE predicts the pressor response to droxidopa in neurogenic orthostatic hypotension. Neurology. 2018 Oct 16;91(16):e1539-e1544. doi: 10.1212/WNL.0000000000006369. Epub 2018 Sep 19.
Cutsforth-Gregory JK, McKeon A, Coon EA, Sletten DM, Suarez M, Sandroni P, Singer W, Benarroch EE, Fealey RD, Low PA. Ganglionic Antibody Level as a Predictor of Severity of Autonomic Failure. Mayo Clin Proc. 2018 Oct;93(10):1440-1447. doi: 10.1016/j.mayocp.2018.05.033. Epub 2018 Aug 28.
Farrell MC, Brenner AS, Shibao CA. Diagnostic treatment dilemma: baroreflex failure or autoimmune autonomic ganglionopathy?. Clin Auton Res. 2018 Dec;28(6):589-591. doi: 10.1007/s10286-018-0556-5. Epub 2018 Aug 27.
Norcliffe-Kaufmann L, Galindo-Mendez B, Garcia-Guarniz AL, Villarreal-Vitorica E, Novak V. Transcranial Doppler in autonomic testing: standards and clinical applications. Clin Auton Res. 2018 Apr;28(2):187-202. doi: 10.1007/s10286-017-0454-2. Epub 2017 Aug 18.
Ogaki K, Heckman MG, Koga S, Martens YA, Labbé C, Lorenzo-Betancor O, Walton RL, Soto AI, Vargas ER, Fujioka S, Uitti RJ, van Gerpen JA, Cheshire WP, Younkin SG, Wszolek ZK, Low PA, Singer W, Bu G, Dickson DW, Ross OA. Association study between multiple system atrophy and TREM2 p.R47H. Neurol Genet. 2018 Aug 1;4(4):e257. doi: 10.1212/NXG.0000000000000257. eCollection 2018 Aug.
Palma JA, Norcliffe-Kaufmann L, Kaufmann H. Orthostatic Hypotension as a Prodromal Marker of α-Synucleinopathies. JAMA Neurol. 2018 Sep 1;75(9):1154. doi: 10.1001/jamaneurol.2018.2248.
Kazachkov M, Palma JA, Norcliffe-Kaufmann L, Bar-Aluma BE, Spalink CL, Barnes EP, Amoroso NE, Balou SM, Bess S, Chopra A, Condos R, Efrati O, Fitzgerald K, Fridman D, Goldenberg RM, Goldhaber A, Kaufman DA, Kothare SV, Levine J, Levy J, Lubinsky AS, Maayan C, Moy LC, Rivera PJ, Rodriguez AJ, Sokol G, Sloane MF, Tan T, Kaufmann H. Respiratory care in familial dysautonomia: Systematic review and expert consensus recommendations. Respir Med. 2018 Aug;141:37-46. doi: 10.1016/j.rmed.2018.06.017. Epub 2018 Jun 21.
Peyronnet B, Vurture G, Palma JA, Malacarne DR, Feigin A, Sussman RD, Biagioni MC, Palmerola R, Gilbert R, Rosenblum N, Frucht S, Kaufmann H, Nitti VW, Brucker BM. Mirabegron in patients with Parkinson disease and overactive bladder symptoms: A retrospective cohort. Parkinsonism Relat Disord. 2018 Dec;57:22-26. doi: 10.1016/j.parkreldis.2018.07.005. Epub 2018 Jul 20.
Palma JA. Neurogenic hypertension: introduction to the series. Clin Auton Res. 2018 Aug;28(4):353-354. doi: 10.1007/s10286-018-0549-4. Epub 2018 Jul 17.
Fanciulli A, Jordan J, Biaggioni I, Calandra-Buonaura G, Cheshire WP, Cortelli P, Eschlboeck S, Grassi G, Hilz MJ, Kaufmann H, Lahrmann H, Mancia G, Mayer G, Norcliffe-Kaufmann L, Pavy-Le Traon A, Raj SR, Robertson D, Rocha I, Struhal W, Thijs R, Tsioufis KP, van Dijk JG, Wenning GK. Consensus statement on the definition of neurogenic supine hypertension in cardiovascular autonomic failure by the American Autonomic Society (AAS) and the European Federation of Autonomic Societies (EFAS) : Endorsed by the European Academy of Neurology (EAN) and the European Society of Hypertension (ESH). Clin Auton Res. 2018 Aug;28(4):355-362. doi: 10.1007/s10286-018-0529-8. Epub 2018 May 15.
Palma JA, Mano T. Central or peripheral autonomic dysfunction in Parkinson disease: Does it matter?. Neurology. 2018 Jun 5;90(23):1045-1046. doi: 10.1212/WNL.0000000000005624. Epub 2018 May 4.
Singh K, Palma JA, Kaufmann H, Tkachenko N, Norcliffe-Kaufmann L, Spalink C, Kazachkov M, Kothare SV. Prevalence and characteristics of sleep-disordered breathing in familial dysautonomia. Sleep Med. 2018 May;45:33-38. doi: 10.1016/j.sleep.2017.12.013. Epub 2018 Feb 7.
Mehr SE, Barbul A, Shibao CA. Gastrointestinal symptoms in postural tachycardia syndrome: a systematic review. Clin Auton Res. 2018 Aug;28(4):411-421. doi: 10.1007/s10286-018-0519-x. Epub 2018 Mar 16.
Palma JA, Kaufmann H. Treatment of autonomic dysfunction in Parkinson disease and other synucleinopathies. Mov Disord. 2018 Mar;33(3):372-390. doi: 10.1002/mds.27344.
Ogaki K, Martens YA, Heckman MG, Koga S, Labbé C, Lorenzo-Betancor O, Wernick AI, Walton RL, Soto AI, Vargas ER, Nielsen HM, Fujioka S, Kanekiyo T, Uitti RJ, van Gerpen JA, Cheshire WP, Wszolek ZK, Low PA, Singer W, Dickson DW, Bu G, Ross OA. Multiple system atrophy and apolipoprotein E. Mov Disord. 2018 Apr;33(4):647-650. doi: 10.1002/mds.27297. Epub 2018 Feb 14.
Palma JA. Autonomic dysfunction in Parkinson's disease and other synucleinopathies: Introduction to the series. Mov Disord. 2018 Mar;33(3):347-348. doi: 10.1002/mds.27347. Epub 2018 Feb 13.
Norcliffe-Kaufmann L, Kaufmann H, Palma JA, Shibao CA, Biaggioni I, Peltier AC, Singer W, Low PA, Goldstein DS, Gibbons CH, Freeman R, Robertson D; Autonomic Disorders Consortium. Orthostatic heart rate changes in patients with autonomic failure caused by neurodegenerative synucleinopathies. Ann Neurol. 2018 Mar;83(3):522-531. doi: 10.1002/ana.25170. Epub 2018 Mar 10.
Coon EA, Benarroch EE. DNA damage response: Selected review and neurologic implications. Neurology. 2018 Feb 20;90(8):367-376. doi: 10.1212/WNL.0000000000004989. Epub 2018 Jan 19.
van den Berg MP, Almomani R, Biaggioni I, van Faassen M, van der Harst P, Silljé HHW, Mateo Leach I, Hemmelder MH, Navis G, Luijckx GJ, de Brouwer APM, Venselaar H, Verbeek MM, van der Zwaag PA, Jongbloed JDH, van Tintelen JP, Wevers RA, Kema IP. Mutations in CYB561 Causing a Novel Orthostatic Hypotension Syndrome. Circ Res. 2018 Mar 16;122(6):846-854. doi: 10.1161/CIRCRESAHA.117.311949. Epub 2018 Jan 17.
McKay JH, Cheshire WP. First symptoms in multiple system atrophy. Clin Auton Res. 2018 Apr;28(2):215-221. doi: 10.1007/s10286-017-0500-0. Epub 2018 Jan 8.
Wenning G, Trojanowski JQ, Kaufmann H, Wisniewski T, Rocca WA, Low PA. Is multiple system atrophy an infectious disease?. Ann Neurol. 2018 Jan;83(1):10-12. doi: 10.1002/ana.25132. Epub 2018 Jan 14.
Gutiérrez JV, Kaufmann H, Palma JA, Mendoza-Santiesteban C, Macefield VG, Norcliffe-Kaufmann L. Founder mutation in IKBKAP gene causes vestibular impairment in familial dysautonomia. Clin Neurophysiol. 2018 Feb;129(2):390-396. doi: 10.1016/j.clinph.2017.11.010. Epub 2017 Nov 26.
Bajaj S, Krismer F, Palma JA, Wenning GK, Kaufmann H, Poewe W, Seppi K. Diffusion-weighted MRI distinguishes Parkinson disease from the parkinsonian variant of multiple system atrophy: A systematic review and meta-analysis. PLoS One. 2017 Dec 29;12(12):e0189897. doi: 10.1371/journal.pone.0189897. eCollection 2017.
Biaggioni I. The Pharmacology of Autonomic Failure: From Hypotension to Hypertension. Pharmacol Rev. 2017 Jan;69(1):53-62. doi: 10.1124/pr.115.012161.
Centi J, Freeman R, Gibbons CH, Neargarder S, Canova AO, Cronin-Golomb A. Effects of orthostatic hypotension on cognition in Parkinson disease. Neurology. 2017 Jan 3;88(1):17-24. doi: 10.1212/WNL.0000000000003452. Epub 2016 Nov 30.
Shibao CA, Kaufmann H. Pharmacotherapy of Cardiovascular Autonomic Dysfunction in Parkinson Disease. CNS Drugs. 2017 Nov;31(11):975-989. doi: 10.1007/s40263-017-0473-5.
Arnold AC, Garland EM, Celedonio JE, Raj SR, Abumrad NN, Biaggioni I, Robertson D, Luther JM, Shibao CA. Hyperinsulinemia and Insulin Resistance in Dopamine β-Hydroxylase Deficiency. J Clin Endocrinol Metab. 2017 Jan 1;102(1):10-14. doi: 10.1210/jc.2016-3274.
Dillon RC, Palma JA, Spalink CL, Altshuler D, Norcliffe-Kaufmann L, Fridman D, Papadopoulos J, Kaufmann H. Dexmedetomidine for refractory adrenergic crisis in familial dysautonomia. Clin Auton Res. 2017 Feb;27(1):7-15. doi: 10.1007/s10286-016-0383-5. Epub 2016 Oct 17.
Grijalva CG, Biaggioni I, Griffin MR, Shibao CA. Fludrocortisone Is Associated With a Higher Risk of All-Cause Hospitalizations Compared With Midodrine in Patients With Orthostatic Hypotension. J Am Heart Assoc. 2017 Oct 12;6(10):e006848. doi: 10.1161/JAHA.117.006848.
Wallach AI, Park H, Rucker JC, Kaufmann H. Supranuclear gaze palsy and horizontal ocular oscillations in Creutzfeldt-Jakob disease. Neurology. 2017 Aug 15;89(7):749. doi: 10.1212/WNL.0000000000004242.
Palma JA, Kaufmann H. Epidemiology, Diagnosis, and Management of Neurogenic Orthostatic Hypotension. Mov Disord Clin Pract. 2017 May-Jun;4(3):298-308. doi: 10.1002/mdc3.12478. Epub 2017 Mar 16.
Spalink CL, Barnes E, Palma JA, Norcliffe-Kaufmann L, Kaufmann H. Intranasal dexmedetomidine for adrenergic crisis in familial dysautonomia. Clin Auton Res. 2017 Aug;27(4):279-282. doi: 10.1007/s10286-017-0442-6. Epub 2017 Jul 3.
Kaufmann H, Palma JA. Neurogenic orthostatic hypotension: the very basics. Clin Auton Res. 2017 Jul;27(Suppl 1):39-43. doi: 10.1007/s10286-017-0437-3. Epub 2017 Jun 15.
Mendoza-Santiesteban CE, Gabilondo I, Palma JA, Norcliffe-Kaufmann L, Kaufmann H. The Retina in Multiple System Atrophy: Systematic Review and Meta-Analysis. Front Neurol. 2017 May 24;8:206. doi: 10.3389/fneur.2017.00206. eCollection 2017.
Gibbons CH, Wang N, Freeman R. Cutaneous Alpha-Synuclein From Paraffin Embedded Autopsy Specimens in Parkinson's Disease. J Parkinsons Dis. 2017;7(3):503-509. doi: 10.3233/JPD-171088.
Palma JA, Norcliffe-Kaufmann L, Perez MA, Spalink CL, Kaufmann H. Sudden Unexpected Death During Sleep in Familial Dysautonomia: A Case-Control Study. Sleep. 2017 Aug 1;40(8):zsx083. doi: 10.1093/sleep/zsx083.
Mendoza-Santiesteban CE, Palma JA, Ortuño-Lizarán I, Cuenca N, Kaufmann H. Pathologic confirmation of retinal ganglion cell loss in multiple system atrophy. Neurology. 2017 Jun 6;88(23):2233-2235. doi: 10.1212/WNL.0000000000004020. Epub 2017 May 10.
Kaufmann H, Norcliffe-Kaufmann L, Palma JA; Autonomic Disorders Consortium. Reply to "Pure autonomic failure vs. Manifest CNS synucleinopathy: Relevance of stridor and autonomic biomarkers". Ann Neurol. 2017 Jun;81(6):910-911. doi: 10.1002/ana.24949. Epub 2017 Jun 5.
Mendoza-Santiesteban CE, Palma JA, Norcliffe-Kaufmann L, Kaufmann H. Familial dysautonomia: a disease with hidden tears. J Neurol. 2017 Jun;264(6):1290-1291. doi: 10.1007/s00415-017-8486-z. Epub 2017 Apr 11.
Mendoza-Santiesteban CE, Palma JA, Hedges TR 3rd, Laver NV, Farhat N, Norcliffe-Kaufmann L, Kaufmann H. Pathological Confirmation of Optic Neuropathy in Familial Dysautonomia. J Neuropathol Exp Neurol. 2017 Mar 1;76(3):238-244. doi: 10.1093/jnen/nlw118.
Coon EA, Fealey RD, Sletten DM, Mandrekar JN, Benarroch EE, Sandroni P, Low PA, Singer W. Anhidrosis in multiple system atrophy involves pre- and postganglionic sudomotor dysfunction. Mov Disord. 2017 Mar;32(3):397-404. doi: 10.1002/mds.26864. Epub 2016 Nov 10.
Coon EA, Low PA. Pure autonomic failure without alpha-synuclein pathology: an evolving understanding of a heterogeneous disease. Clin Auton Res. 2017 Apr;27(2):67-68. doi: 10.1007/s10286-017-0410-1. Epub 2017 Feb 24.
Singer W, Berini SE, Sandroni P, Fealey RD, Coon EA, Suarez MD, Benarroch EE, Low PA. Pure autonomic failure: Predictors of conversion to clinical CNS involvement. Neurology. 2017 Mar 21;88(12):1129-1136. doi: 10.1212/WNL.0000000000003737. Epub 2017 Feb 15.
Shaw BH, Garland EM, Black BK, Paranjape SY, Shibao CA, Okamoto LE, Gamboa A, Diedrich A, Plummer WD, Dupont WD, Biaggioni I, Robertson D, Raj SR. Optimal diagnostic thresholds for diagnosis of orthostatic hypotension with a 'sit-to-stand test'. J Hypertens. 2017 May;35(5):1019-1025. doi: 10.1097/HJH.0000000000001265.
Kaufmann H, Jordan J. The Clinical Autonomic Research journal 2017 and onward. Clin Auton Res. 2017 Feb;27(1):1-2. doi: 10.1007/s10286-016-0394-2. Epub 2017 Jan 25.
Kaufmann H, Norcliffe-Kaufmann L, Palma JA, Biaggioni I, Low PA, Singer W, Goldstein DS, Peltier AC, Shibao CA, Gibbons CH, Freeman R, Robertson D; Autonomic Disorders Consortium. Natural history of pure autonomic failure: A United States prospective cohort. Ann Neurol. 2017 Feb;81(2):287-297. doi: 10.1002/ana.24877.
Gibbons CH, Schmidt P, Biaggioni I, Frazier-Mills C, Freeman R, Isaacson S, Karabin B, Kuritzky L, Lew M, Low P, Mehdirad A, Raj SR, Vernino S, Kaufmann H. The recommendations of a consensus panel for the screening, diagnosis, and treatment of neurogenic orthostatic hypotension and associated supine hypertension. J Neurol. 2017 Aug;264(8):1567-1582. doi: 10.1007/s00415-016-8375-x. Epub 2017 Jan 3.
Palma JA. Not all dysautonomias are created equal. Clin Auton Res. 2016 Feb;26(1):83. doi: 10.1007/s10286-015-0329-3. Epub 2015 Dec 22.
Arnold AC, Okamoto LE, Gamboa A, Black BK, Raj SR, Elijovich F, Robertson D, Shibao CA, Biaggioni I. Mineralocorticoid Receptor Activation Contributes to the Supine Hypertension of Autonomic Failure. Hypertension. 2016 Feb;67(2):424-9. doi: 10.1161/HYPERTENSIONAHA.115.06617. Epub 2015 Dec 7.
Norcliffe-Kaufmann L, Palma JA, Kaufmann H. Mother-induced hypertension in familial dysautonomia. Clin Auton Res. 2016 Feb;26(1):79-81. doi: 10.1007/s10286-015-0323-9. Epub 2015 Nov 21.
Gutiérrez JV, Norcliffe-Kaufmann L, Kaufmann H. Brainstem reflexes in familial dysautonomia. Reply to "Evidence of brainstem dysfunction in patients with familial dysautonomia and carriers of the IKBKAP mutation". Clin Neurophysiol. 2016 Feb;127(2):1749-1750. doi: 10.1016/j.clinph.2015.10.033. Epub 2015 Oct 20.
Kaufmann H, Norcliffe-Kaufmann L, Hewitt LA, Rowse GJ, White WB. Effects of the novel norepinephrine prodrug, droxidopa, on ambulatory blood pressure in patients with neurogenic orthostatic hypotension. J Am Soc Hypertens. 2016 Oct;10(10):819-826. doi: 10.1016/j.jash.2016.07.009. Epub 2016 Aug 4.
Loavenbruck AJ, Singer W, Mauermann ML, Sandroni P, B Dyck PJ, Gertz M, Klein CJ, Low PA. Transthyretin amyloid neuropathy has earlier neural involvement but better prognosis than primary amyloid counterpart: an answer to the paradox?. Ann Neurol. 2016 Sep;80(3):401-11. doi: 10.1002/ana.24725. Epub 2016 Jul 25.
Gibbons CH, Garcia J, Wang N, Shih LC, Freeman R. The diagnostic discrimination of cutaneous α-synuclein deposition in Parkinson disease. Neurology. 2016 Aug 2;87(5):505-12. doi: 10.1212/WNL.0000000000002919. Epub 2016 Jul 6.
Labbé C, Heckman MG, Lorenzo-Betancor O, Murray ME, Ogaki K, Soto-Ortolaza AI, Walton RL, Fujioka S, Koga S, Uitti RJ, van Gerpen JA, Petersen RC, Graff-Radford NR, Younkin SG, Boeve BF, Cheshire WP Jr, Low PA, Sandroni P, Coon EA, Singer W, Wszolek ZK, Dickson DW, Ross OA. MAPT haplotype diversity in multiple system atrophy. Parkinsonism Relat Disord. 2016 Sep;30:40-5. doi: 10.1016/j.parkreldis.2016.06.010. Epub 2016 Jun 16.
Okamoto LE, Diedrich A, Baudenbacher FJ, Harder R, Whitfield JS, Iqbal F, Gamboa A, Shibao CA, Black BK, Raj SR, Robertson D, Biaggioni I. Efficacy of Servo-Controlled Splanchnic Venous Compression in the Treatment of Orthostatic Hypotension: A Randomized Comparison With Midodrine. Hypertension. 2016 Aug;68(2):418-26. doi: 10.1161/HYPERTENSIONAHA.116.07199. Epub 2016 Jun 6.
Palma JA, Norcliffe-Kaufmann L, Kaufmann H. An orthostatic hypotension mimic: The inebriation-like syndrome in Parkinson disease. Mov Disord. 2016 Apr;31(4):598-600. doi: 10.1002/mds.26516. Epub 2016 Feb 16.
Norcliffe-Kaufmann L, Kaufmann H, Martinez J, Katz SD, Tully L, Reynolds HR. Autonomic Findings in Takotsubo Cardiomyopathy. Am J Cardiol. 2016 Jan 15;117(2):206-13. doi: 10.1016/j.amjcard.2015.10.028. Epub 2015 Nov 5.
Loavenbruck A, Iturrino J, Singer W, Sletten DM, Low PA, Zinsmeister AR, Bharucha AE. Disturbances of gastrointestinal transit and autonomic functions in postural orthostatic tachycardia syndrome. Neurogastroenterol Motil. 2015 Jan;27(1):92-8. doi: 10.1111/nmo.12480. Epub 2014 Dec 6.
Figueroa JJ, Singer W, Sandroni P, Sletten DM, Gehrking TL, Gehrking JA, Low P, Basford JR. Effects of patient-controlled abdominal compression on standing systolic blood pressure in adults with orthostatic hypotension. Arch Phys Med Rehabil. 2015 Mar;96(3):505-10. doi: 10.1016/j.apmr.2014.10.012. Epub 2014 Nov 6.
Marinos A, Celedonio JE, Ramirez CE, Gottlieb J, Gamboa A, Hui N, Yu C, Stein CM, Biaggioni I, Shibao CA. Time-Course Analysis of Flow Mediated Dilation for the Evaluation of Endothelial Function After a High-Fat Meal in African Americans. J Am Heart Assoc. 2015 Nov 5;4(11):e002388. doi: 10.1161/JAHA.115.002388.
McDonell KE, Shibao CA, Claassen DO. Clinical Relevance of Orthostatic Hypotension in Neurodegenerative Disease. Curr Neurol Neurosci Rep. 2015 Dec;15(12):78. doi: 10.1007/s11910-015-0599-0.
Okamoto LE, Raj SR, Gamboa A, Shibao CA, Arnold AC, Garland EM, Black BK, Farley G, Diedrich A, Biaggioni I. Sympathetic activation is associated with increased IL-6, but not CRP in the absence of obesity: lessons from postural tachycardia syndrome and obesity. Am J Physiol Heart Circ Physiol. 2015 Dec 15;309(12):H2098-107. doi: 10.1152/ajpheart.00409.2015. Epub 2015 Oct 9.
Fuente Mora C, Norcliffe-Kaufmann L, Palma JA, Kaufmann H. Chewing-induced hypertension in afferent baroreflex failure: a sympathetic response?. Exp Physiol. 2015 Nov;100(11):1269-79. doi: 10.1113/EP085340. Epub 2015 Oct 14.
Arnold AC, Robertson D. Defective Wnt Signaling: A Potential Contributor to Cardiometabolic Disease?. Diabetes. 2015 Oct;64(10):3342-4. doi: 10.2337/db15-0822.
Coon EA, Sletten DM, Suarez MD, Mandrekar JN, Ahlskog JE, Bower JH, Matsumoto JY, Silber MH, Benarroch EE, Fealey RD, Sandroni P, Low PA, Singer W. Clinical features and autonomic testing predict survival in multiple system atrophy. Brain. 2015 Dec;138(Pt 12):3623-31. doi: 10.1093/brain/awv274. Epub 2015 Sep 13.
Piccione EA, Sletten DM, Staff NP, Low PA. Autonomic system and amyotrophic lateral sclerosis. Muscle Nerve. 2015 May;51(5):676-9. doi: 10.1002/mus.24457. Epub 2015 Mar 31.
Mendoza-Santiesteban CE, Palma JA, Martinez J, Norcliffe-Kaufmann L, Hedges TR 3rd, Kaufmann H. Progressive retinal structure abnormalities in multiple system atrophy. Mov Disord. 2015 Dec;30(14):1944-53. doi: 10.1002/mds.26360. Epub 2015 Sep 11.
Celedonio JE, Arnold AC, Dupont WD, Ramirez CE, Diedrich A, Okamoto LE, Raj SR, Robertson D, Peltier AC, Biaggioni I, Shibao CA. Residual sympathetic tone is associated with reduced insulin sensitivity in patients with autonomic failure. Clin Auton Res. 2015 Oct;25(5):309-15. doi: 10.1007/s10286-015-0307-9. Epub 2015 Sep 10.
Jelani QU, Norcliffe-Kaufmann L, Kaufmann H, Katz SD. Vascular endothelial function and blood pressure regulation in afferent autonomic failure. Am J Hypertens. 2015 Feb;28(2):166-72. doi: 10.1093/ajh/hpu144. Epub 2014 Aug 15.
Gutiérrez JV, Norcliffe-Kaufmann L, Kaufmann H. Brainstem reflexes in patients with familial dysautonomia. Clin Neurophysiol. 2015 Mar;126(3):626-33. doi: 10.1016/j.clinph.2014.06.028. Epub 2014 Jul 3.
Palma JA, Roda R, Norcliffe-Kaufmann L, Kaufmann H. Increased frequency of rhabdomyolysis in familial dysautonomia. Muscle Nerve. 2015 Nov;52(5):887-90. doi: 10.1002/mus.24781. Epub 2015 Aug 13.
Garland EM, Celedonio JE, Raj SR. Postural Tachycardia Syndrome: Beyond Orthostatic Intolerance. Curr Neurol Neurosci Rep. 2015 Sep;15(9):60. doi: 10.1007/s11910-015-0583-8.
Bharucha AE, Kudva Y, Basu A, Camilleri M, Low PA, Vella A, Zinsmeister AR. Relationship between glycemic control and gastric emptying in poorly controlled type 2 diabetes. Clin Gastroenterol Hepatol. 2015 Mar;13(3):466-476.e1. doi: 10.1016/j.cgh.2014.06.034. Epub 2014 Jul 17.
Low PA, Tomalia VA. Orthostatic Hypotension: Mechanisms, Causes, Management. J Clin Neurol. 2015 Jul;11(3):220-6. doi: 10.3988/jcn.2015.11.3.220.
Arnold AC, Haman K, Garland EM, Raj V, Dupont WD, Biaggioni I, Robertson D, Raj SR. Cognitive dysfunction in postural tachycardia syndrome. Clin Sci (Lond). 2015 Jan;128(1):39-45. doi: 10.1042/CS20140251.
Kaufmann H, Norcliffe-Kaufmann L, Palma JA. Droxidopa in neurogenic orthostatic hypotension. Expert Rev Cardiovasc Ther. 2015;13(8):875-91. doi: 10.1586/14779072.2015.1057504. Epub 2015 Jun 19.
Palma JA, Kaufmann H. Novel therapeutic approaches in multiple system atrophy. Clin Auton Res. 2015 Feb;25(1):37-45. doi: 10.1007/s10286-014-0249-7. Epub 2014 Jun 14.
Low PA, Reich SG, Jankovic J, Shults CW, Stern MB, Novak P, Tanner CM, Gilman S, Marshall FJ, Wooten F, Racette B, Chelimsky T, Singer W, Sletten DM, Sandroni P, Mandrekar J. Natural history of multiple system atrophy in the USA: a prospective cohort study. Lancet Neurol. 2015 Jul;14(7):710-9. doi: 10.1016/S1474-4422(15)00058-7. Epub 2015 May 27.
Cykowski MD, Coon EA, Powell SZ, Jenkins SM, Benarroch EE, Low PA, Schmeichel AM, Parisi JE. Expanding the spectrum of neuronal pathology in multiple system atrophy. Brain. 2015 Aug;138(Pt 8):2293-309. doi: 10.1093/brain/awv114. Epub 2015 May 16.
Norcliffe-Kaufmann L, Palma JA, Krismer F. Multiple system atrophy: the case for an international collaborative effort. Clin Auton Res. 2015 Feb;25(1):81-3. doi: 10.1007/s10286-015-0280-3. Epub 2015 Apr 11.
Gamboa A, Paranjape SY, Black BK, Arnold AC, Figueroa R, Okamoto LE, Nwazue VC, Diedrich A, Plummer WD, Dupont WD, Robertson D, Raj SR. Inspiratory resistance improves postural tachycardia: a randomized study. Circ Arrhythm Electrophysiol. 2015 Jun;8(3):651-8. doi: 10.1161/CIRCEP.114.002605. Epub 2015 Mar 19.
Singer W, Low PA. Optimizing clinical trial design for multiple system atrophy: lessons from the rifampicin study. Clin Auton Res. 2015 Feb;25(1):47-52. doi: 10.1007/s10286-015-0281-2. Epub 2015 Mar 13.
Jordan J, Shibao C, Biaggioni I. Multiple system atrophy: using clinical pharmacology to reveal pathophysiology. Clin Auton Res. 2015 Feb;25(1):53-9. doi: 10.1007/s10286-015-0271-4. Epub 2015 Mar 11.
Palma JA, Cook GA, Miglis MG, Loavenbruck A. Emerging subspecialties in neurology: autonomic disorders. Neurology. 2015 Mar 10;84(10):e73-5. doi: 10.1212/WNL.0000000000001337.
Palma JA, Fernandez-Cordon C, Coon EA, Low PA, Miglis MG, Jaradeh S, Bhaumik AK, Dayalu P, Urrestarazu E, Iriarte J, Biaggioni I, Kaufmann H. Prevalence of REM sleep behavior disorder in multiple system atrophy: a multicenter study and meta-analysis. Clin Auton Res. 2015 Feb;25(1):69-75. doi: 10.1007/s10286-015-0279-9. Epub 2015 Mar 5.
Mar PL, Shibao CA, Garland EM, Black BK, Biaggioni I, Diedrich A, Paranjape SY, Robertson D, Raj SR. Neurogenic hyperadrenergic orthostatic hypotension: a newly recognized variant of orthostatic hypotension in older adults with elevated norepinephrine (noradrenaline). Clin Sci (Lond). 2015 Jul;129(2):107-16. doi: 10.1042/CS20140766.
Palma JA, Gomez-Esteban JC, Norcliffe-Kaufmann L, Martinez J, Tijero B, Berganzo K, Kaufmann H. Orthostatic hypotension in Parkinson disease: how much you fall or how low you go?. Mov Disord. 2015 Apr 15;30(5):639-45. doi: 10.1002/mds.26079. Epub 2015 Feb 12.
Norcliffe-Kaufmann L, Katz SD, Axelrod F, Kaufmann H. Norepinephrine deficiency with normal blood pressure control in congenital insensitivity to pain with anhidrosis. Ann Neurol. 2015 May;77(5):743-52. doi: 10.1002/ana.24377. Epub 2015 Mar 13.
Roncevic D, Palma JA, Martinez J, Goulding N, Norcliffe-Kaufmann L, Kaufmann H. Cerebellar and parkinsonian phenotypes in multiple system atrophy: similarities, differences and survival. J Neural Transm (Vienna). 2014 May;121(5):507-12. doi: 10.1007/s00702-013-1133-7. Epub 2013 Dec 15.
Palma JA, Kaufmann H. Autonomic disorders predicting Parkinson's disease. Parkinsonism Relat Disord. 2014 Jan;20 Suppl 1(0 1):S94-8. doi: 10.1016/S1353-8020(13)70024-5.
Ferguson MC, Garland EM, Hedges L, Womack-Nunley B, Hamid R, Phillips JA 3rd, Shibao CA, Raj SR, Biaggioni I, Robertson D. SHC2 gene copy number in multiple system atrophy (MSA). Clin Auton Res. 2014 Feb;24(1):25-30. doi: 10.1007/s10286-013-0216-8. Epub 2013 Oct 30.
Palma JA, Norcliffe-Kaufmann L, Fuente-Mora C, Percival L, Mendoza-Santiesteban C, Kaufmann H. Current treatments in familial dysautonomia. Expert Opin Pharmacother. 2014 Dec;15(18):2653-71. doi: 10.1517/14656566.2014.970530. Epub 2014 Oct 17.
Biaggioni I. New developments in the management of neurogenic orthostatic hypotension. Curr Cardiol Rep. 2014 Nov;16(11):542. doi: 10.1007/s11886-014-0542-z.
Okamoto LE, Gamboa A, Shibao CA, Arnold AC, Choi L, Black BK, Raj SR, Robertson D, Biaggioni I. Nebivolol, but not metoprolol, lowers blood pressure in nitric oxide-sensitive human hypertension. Hypertension. 2014 Dec;64(6):1241-7. doi: 10.1161/HYPERTENSIONAHA.114.04116. Epub 2014 Sep 29.
Gamboa A, Okamoto LE, Arnold AC, Figueroa RA, Diedrich A, Raj SR, Paranjape SY, Farley G, Abumrad N, Biaggioni I. Autonomic blockade improves insulin sensitivity in obese subjects. Hypertension. 2014 Oct;64(4):867-74. doi: 10.1161/HYPERTENSIONAHA.114.03738. Epub 2014 Jul 7.
Kpaeyeh J Jr, Mar PL, Raj V, Black BK, Arnold AC, Biaggioni I, Shibao CA, Paranjape SY, Dupont WD, Robertson D, Raj SR. Hemodynamic profiles and tolerability of modafinil in the treatment of postural tachycardia syndrome: a randomized, placebo-controlled trial. J Clin Psychopharmacol. 2014 Dec;34(6):738-41. doi: 10.1097/JCP.0000000000000221.
Ramirez CE, Okamoto LE, Arnold AC, Gamboa A, Diedrich A, Choi L, Raj SR, Robertson D, Biaggioni I, Shibao CA. Efficacy of atomoxetine versus midodrine for the treatment of orthostatic hypotension in autonomic failure. Hypertension. 2014 Dec;64(6):1235-40. doi: 10.1161/HYPERTENSIONAHA.114.04225. Epub 2014 Sep 2.
Arnold AC, Ramirez CE, Choi L, Okamoto LE, Gamboa A, Diedrich A, Raj SR, Robertson D, Biaggioni I, Shibao CA. Combination ergotamine and caffeine improves seated blood pressure and presyncopal symptoms in autonomic failure. Front Physiol. 2014 Jul 24;5:270. doi: 10.3389/fphys.2014.00270. eCollection 2014.
Figueroa RA, Arnold AC, Nwazue VC, Okamoto LE, Paranjape SY, Black BK, Diedrich A, Robertson D, Biaggioni I, Raj SR, Gamboa A. Acute volume loading and exercise capacity in postural tachycardia syndrome. J Appl Physiol (1985). 2014 Sep 15;117(6):663-8. doi: 10.1152/japplphysiol.00367.2014. Epub 2014 Jul 24.
Raj SR. Highlights in clinical autonomic neurosciences: novel insights about vasovagal syncope and postural tachycardia syndrome from autonomic testing. Auton Neurosci. 2014 Oct;185:5-7. doi: 10.1016/j.autneu.2014.07.002. Epub 2014 Jul 9.
Raj SR. How did the simple faint get so complicated? Syncope in 2014. Auton Neurosci. 2014 Sep;184:1-2. doi: 10.1016/j.autneu.2014.07.003. Epub 2014 Jul 9.
Figueroa JJ, Bott-Kitslaar DM, Mercado JA, Basford JR, Sandroni P, Shen WK, Sletten DM, Gehrking TL, Gehrking JA, Low PA, Singer W. Decreased orthostatic adrenergic reactivity in non-dipping postural tachycardia syndrome. Auton Neurosci. 2014 Oct;185:107-11. doi: 10.1016/j.autneu.2014.06.003. Epub 2014 Jun 21.
Coffin ST, Raj SR. Non-invasive management of vasovagal syncope. Auton Neurosci. 2014 Sep;184:27-32. doi: 10.1016/j.autneu.2014.06.004. Epub 2014 Jun 21.
Kaufmann H, Freeman R, Biaggioni I, Low P, Pedder S, Hewitt LA, Mauney J, Feirtag M, Mathias CJ; NOH301 Investigators. Droxidopa for neurogenic orthostatic hypotension: a randomized, placebo-controlled, phase 3 trial. Neurology. 2014 Jul 22;83(4):328-35. doi: 10.1212/WNL.0000000000000615. Epub 2014 Jun 18.
Figueroa JJ, Singer W, Parsaik A, Benarroch EE, Ahlskog JE, Fealey RD, Parisi JE, Sandroni P, Mandrekar J, Iodice V, Low PA, Bower JH. Multiple system atrophy: prognostic indicators of survival. Mov Disord. 2014 Aug;29(9):1151-7. doi: 10.1002/mds.25927. Epub 2014 Jun 7.
Stankovic I, Krismer F, Jesic A, Antonini A, Benke T, Brown RG, Burn DJ, Holton JL, Kaufmann H, Kostic VS, Ling H, Meissner WG, Poewe W, Semnic M, Seppi K, Takeda A, Weintraub D, Wenning GK; Movement Disorders Society MSA (MODIMSA) Study Group. Cognitive impairment in multiple system atrophy: a position statement by the Neuropsychology Task Force of the MDS Multiple System Atrophy (MODIMSA) study group. Mov Disord. 2014 Jun;29(7):857-67. doi: 10.1002/mds.25880. Epub 2014 Apr 18.
Mai TH, Wu J, Diedrich A, Garland EM, Robertson D. Calcitonin gene-related peptide (CGRP) in autonomic cardiovascular regulation and vascular structure. J Am Soc Hypertens. 2014 May;8(5):286-96. doi: 10.1016/j.jash.2014.03.001. Epub 2014 Mar 13.
Macefield VG, Norcliffe-Kaufmann L, Löken L, Axelrod FB, Kaufmann H. Disturbances in affective touch in hereditary sensory & autonomic neuropathy type III. Int J Psychophysiol. 2014 Jul;93(1):56-61. doi: 10.1016/j.ijpsycho.2014.04.002. Epub 2014 Apr 12.
Nwazue VC, Paranjape SY, Black BK, Biaggioni I, Diedrich A, Dupont WD, Robertson D, Raj SR. Postural tachycardia syndrome and inappropriate sinus tachycardia: role of autonomic modulation and sinus node automaticity. J Am Heart Assoc. 2014 Apr 10;3(2):e000700. doi: 10.1161/JAHA.113.000700.
Pandey AK, Kanagasundaram A, Raj SR. Deglutition syncope: does fluid temperature matter?. J Am Coll Cardiol. 2014 May 27;63(20):e55. doi: 10.1016/j.jacc.2014.01.075. Epub 2014 Apr 2.
Raj SR. Highlights in clinical autonomic neurosciences: Insights into the roles of the carotid body and carotid baroreceptor. Auton Neurosci. 2014 Jul;183:80-2. doi: 10.1016/j.autneu.2014.02.003. Epub 2014 Feb 20.
Nwazue VC, Arnold AC, Raj V, Black BK, Biaggioni I, Paranjape SY, Orozco C, Dupont WD, Robertson D, Raj SR. Understanding the placebo effect in clinical trials for postural tachycardia syndrome. Clin Exp Pharmacol Physiol. 2014 May;41(5):325-30. doi: 10.1111/1440-1681.12221.
Wada N, Singer W, Gehrking TL, Sletten DM, Schmelzer JD, Low PA. Comparison of baroreflex sensitivity with a fall and rise in blood pressure induced by the Valsalva manoeuvre. Clin Sci (Lond). 2014 Sep;127(5):307-13. doi: 10.1042/CS20130802.
Li H, Yu X, Liles C, Khan M, Vanderlinde-Wood M, Galloway A, Zillner C, Benbrook A, Reim S, Collier D, Hill MA, Raj SR, Okamoto LE, Cunningham MW, Aston CE, Kem DC. Autoimmune basis for postural tachycardia syndrome. J Am Heart Assoc. 2014 Feb 26;3(1):e000755. doi: 10.1161/JAHA.113.000755.
Low PA, Robertson D, Gilman S, Kaufmann H, Singer W, Biaggioni I, Freeman R, Perlman S, Hauser RA, Cheshire W, Lessig S, Vernino S, Mandrekar J, Dupont WD, Chelimsky T, Galpern WR. Efficacy and safety of rifampicin for multiple system atrophy: a randomised, double-blind, placebo-controlled trial. Lancet Neurol. 2014 Mar;13(3):268-75. doi: 10.1016/S1474-4422(13)70301-6. Epub 2014 Feb 5.
Green EA, Black BK, Biaggioni I, Paranjape SY, Bagai K, Shibao C, Okoye MC, Dupont WD, Robertson D, Raj SR. Melatonin reduces tachycardia in postural tachycardia syndrome: a randomized, crossover trial. Cardiovasc Ther. 2014 Jun;32(3):105-12. doi: 10.1111/1755-5922.12067.
Mendoza-Santiesteban CE, Hedges Iii TR, Norcliffe-Kaufmann L, Axelrod F, Kaufmann H. Selective retinal ganglion cell loss in familial dysautonomia. J Neurol. 2014 Apr;261(4):702-9. doi: 10.1007/s00415-014-7258-2. Epub 2014 Feb 2.
Wada N, Singer W, Gehrking TL, Sletten DM, Schmelzer JD, Kihara M, Low PA. Determination of vagal baroreflex sensitivity in normal subjects. Muscle Nerve. 2014 Oct;50(4):535-40. doi: 10.1002/mus.24191. Epub 2014 Aug 5.
Nwazue VC, Raj SR. Confounders of vasovagal syncope: orthostatic hypotension. Cardiol Clin. 2013 Feb;31(1):89-100. doi: 10.1016/j.ccl.2012.09.003.
Nwazue VC, Raj SR. Confounders of vasovagal syncope: postural tachycardia syndrome. Cardiol Clin. 2013 Feb;31(1):101-9. doi: 10.1016/j.ccl.2012.09.004.
Norcliffe-Kaufmann L, Axelrod FB, Kaufmann H. Developmental abnormalities, blood pressure variability and renal disease in Riley Day syndrome. J Hum Hypertens. 2013 Jan;27(1):51-5. doi: 10.1038/jhh.2011.107. Epub 2011 Dec 1.
Macefield VG, Norcliffe-Kaufmann L, Axelrod FB, Kaufmann H. Cardiac-locked bursts of muscle sympathetic nerve activity are absent in familial dysautonomia. J Physiol. 2013 Feb 1;591(3):689-700. doi: 10.1113/jphysiol.2012.246264. Epub 2012 Nov 19.
Green EA, Raj V, Shibao CA, Biaggioni I, Black BK, Dupont WD, Robertson D, Raj SR. Effects of norepinephrine reuptake inhibition on postural tachycardia syndrome. J Am Heart Assoc. 2013 Sep 3;2(5):e000395. doi: 10.1161/JAHA.113.000395.
Plash WB, Diedrich A, Biaggioni I, Garland EM, Paranjape SY, Black BK, Dupont WD, Raj SR. Diagnosing postural tachycardia syndrome: comparison of tilt testing compared with standing haemodynamics. Clin Sci (Lond). 2013 Jan;124(2):109-14. doi: 10.1042/CS20120276.
Norcliffe-Kaufmann LJ, Axelrod FB, Kaufmann H. Cyclic vomiting associated with excessive dopamine in Riley-day syndrome. J Clin Gastroenterol. 2013 Feb;47(2):136-8. doi: 10.1097/MCG.0b013e3182582cbf.
Parsaik AK, Ahlskog JE, Singer W, Gelfman R, Sheldon SH, Seime RJ, Craft JM, Staab JP, Kantor B, Low PA. Central hyperadrenergic state after lightning strike. Clin Auton Res. 2013 Aug;23(4):169-73. doi: 10.1007/s10286-013-0197-7. Epub 2013 Jun 13.
Raj SR. Postural tachycardia syndrome (POTS). Circulation. 2013 Jun 11;127(23):2336-42. doi: 10.1161/CIRCULATIONAHA.112.144501.
Parsaik AK, Singer W, Allison TG, Sletten DM, Joyner MJ, Benarroch EE, Low PA, Sandroni P. Orthostatic intolerance without postural tachycardia: how much dysautonomia?. Clin Auton Res. 2013 Aug;23(4):181-8. doi: 10.1007/s10286-013-0199-5. Epub 2013 Jun 1.
Shibao C, Lipsitz LA, Biaggioni I; American Society of Hypertension Writing Group. Evaluation and treatment of orthostatic hypotension. J Am Soc Hypertens. 2013 Jul-Aug;7(4):317-24. doi: 10.1016/j.jash.2013.04.006. Epub 2013 May 27.
Macefield VG, Norcliffe-Kaufmann LJ, Axelrod FB, Kaufmann H. Relationship between proprioception at the knee joint and gait ataxia in HSAN III. Mov Disord. 2013 Jun;28(6):823-7. doi: 10.1002/mds.25482. Epub 2013 May 16.
Arnold AC, Okamoto LE, Diedrich A, Paranjape SY, Raj SR, Biaggioni I, Gamboa A. Low-dose propranolol and exercise capacity in postural tachycardia syndrome: a randomized study. Neurology. 2013 May 21;80(21):1927-33. doi: 10.1212/WNL.0b013e318293e310. Epub 2013 Apr 24.
Bagai K, Wakwe CI, Malow B, Black BK, Biaggioni I, Paranjape SY, Orozco C, Raj SR. Estimation of sleep disturbances using wrist actigraphy in patients with postural tachycardia syndrome. Auton Neurosci. 2013 Oct;177(2):260-5. doi: 10.1016/j.autneu.2013.02.021. Epub 2013 Mar 26.
Arnold AC, Okamoto LE, Gamboa A, Shibao C, Raj SR, Robertson D, Biaggioni I. Angiotensin II, independent of plasma renin activity, contributes to the hypertension of autonomic failure. Hypertension. 2013 Mar;61(3):701-6. doi: 10.1161/HYPERTENSIONAHA.111.00377. Epub 2012 Dec 24.
Phillips L, Robertson D, Melson MR, Garland EM, Joos KM. Pediatric ptosis as a sign of treatable autonomic dysfunction. Am J Ophthalmol. 2013 Aug;156(2):370-374.e2. doi: 10.1016/j.ajo.2013.03.009. Epub 2013 Apr 24.
Low PA, Tomalia VA, Park KJ. Autonomic function tests: some clinical applications. J Clin Neurol. 2013 Jan;9(1):1-8. doi: 10.3988/jcn.2013.9.1.1. Epub 2013 Jan 3.
Gamboa A, Okamoto LE, Raj SR, Diedrich A, Shibao CA, Robertson D, Biaggioni I. Nitric oxide and regulation of heart rate in patients with postural tachycardia syndrome and healthy subjects. Hypertension. 2013 Feb;61(2):376-81. doi: 10.1161/HYPERTENSIONAHA.111.00203. Epub 2013 Jan 2.
Sletten DM, Suarez GA, Low PA, Mandrekar J, Singer W. COMPASS 31: a refined and abbreviated Composite Autonomic Symptom Score. Mayo Clin Proc. 2012 Dec;87(12):1196-201. doi: 10.1016/j.mayocp.2012.10.013.
Mustafa HI, Fessel JP, Barwise J, Shannon JR, Raj SR, Diedrich A, Biaggioni I, Robertson D. Dysautonomia: perioperative implications. Anesthesiology. 2012 Jan;116(1):205-15. doi: 10.1097/ALN.0b013e31823db712.
Axelrod FB, Rolnitzky L, Gold von Simson G, Berlin D, Kaufmann H. A rating scale for the functional assessment of patients with familial dysautonomia (Riley Day syndrome). J Pediatr. 2012 Dec;161(6):1160-5. doi: 10.1016/j.jpeds.2012.05.038. Epub 2012 Jun 23.
Singer W, Sletten DM, Opfer-Gehrking TL, Brands CK, Fischer PR, Low PA. Postural tachycardia in children and adolescents: what is abnormal?. J Pediatr. 2012 Feb;160(2):222-6. doi: 10.1016/j.jpeds.2011.08.054. Epub 2011 Oct 11.
Parsaik A, Allison TG, Singer W, Sletten DM, Joyner MJ, Benarroch EE, Low PA, Sandroni P. Deconditioning in patients with orthostatic intolerance. Neurology. 2012 Oct 2;79(14):1435-9. doi: 10.1212/WNL.0b013e31826d5f95. Epub 2012 Sep 19.
Mendoza-Santiesteban CE, Hedges TR 3rd, Norcliffe-Kaufmann L, Warren F, Reddy S, Axelrod FB, Kaufmann H. Clinical neuro-ophthalmic findings in familial dysautonomia. J Neuroophthalmol. 2012 Mar;32(1):23-6. doi: 10.1097/WNO.0b013e318230feab.
Siepmann T, Gibbons CH, Illigens BM, Lafo JA, Brown CM, Freeman R. Quantitative pilomotor axon reflex test: a novel test of pilomotor function. Arch Neurol. 2012 Nov;69(11):1488-92. doi: 10.1001/archneurol.2012.1092.
Arnold AC, Biaggioni I. Management approaches to hypertension in autonomic failure. Curr Opin Nephrol Hypertens. 2012 Sep;21(5):481-5. doi: 10.1097/MNH.0b013e328356c52f.
Kimpinski K, Figueroa JJ, Singer W, Sletten DM, Iodice V, Sandroni P, Fischer PR, Opfer-Gehrking TL, Gehrking JA, Low PA. A prospective, 1-year follow-up study of postural tachycardia syndrome. Mayo Clin Proc. 2012 Aug;87(8):746-52. doi: 10.1016/j.mayocp.2012.02.020. Epub 2012 Jul 15.
Swami SK, Liesinger JT, Shah N, Baddour LM, Banerjee R. Incidence of antibiotic-resistant Escherichia coli bacteriuria according to age and location of onset: a population-based study from Olmsted County, Minnesota. Mayo Clin Proc. 2012 Aug;87(8):753-9. doi: 10.1016/j.mayocp.2012.02.025. Epub 2012 Jul 13.
Kimpinski K, Iodice V, Burton DD, Camilleri M, Mullan BP, Lipp A, Sandroni P, Gehrking TL, Sletten DM, Ahlskog JE, Fealey RD, Singer W, Low PA. The role of autonomic testing in the differentiation of Parkinson's disease from multiple system atrophy. J Neurol Sci. 2012 Jun 15;317(1-2):92-6. doi: 10.1016/j.jns.2012.02.023. Epub 2012 Mar 14.
Shibao C, Okamoto L, Biaggioni I. Pharmacotherapy of autonomic failure. Pharmacol Ther. 2012 Jun;134(3):279-86. doi: 10.1016/j.pharmthera.2011.05.009. Epub 2011 Jun 12.
Shibao C, Buchowski MS, Chen KY, Yu C, Biaggioni I. Chronic sympathetic attenuation and energy metabolism in autonomic failure. Hypertension. 2012 May;59(5):985-90. doi: 10.1161/HYPERTENSIONAHA.111.190157. Epub 2012 Apr 2.
Figueroa JJ, Dyck PJ, Laughlin RS, Mercado JA, Massie R, Sandroni P, Dyck PJ, Low PA. Autonomic dysfunction in chronic inflammatory demyelinating polyradiculoneuropathy. Neurology. 2012 Mar 6;78(10):702-8. doi: 10.1212/WNL.0b013e3182494d66. Epub 2012 Feb 22.
Okamoto LE, Shibao C, Gamboa A, Choi L, Diedrich A, Raj SR, Black BK, Robertson D, Biaggioni I. Synergistic effect of norepinephrine transporter blockade and α-2 antagonism on blood pressure in autonomic failure. Hypertension. 2012 Mar;59(3):650-6. doi: 10.1161/HYPERTENSIONAHA.111.184812. Epub 2012 Feb 6.
Mustafa HI, Raj SR, Diedrich A, Black BK, Paranjape SY, Dupont WD, Williams GH, Biaggioni I, Robertson D. Altered systemic hemodynamic and baroreflex response to angiotensin II in postural tachycardia syndrome. Circ Arrhythm Electrophysiol. 2012 Feb;5(1):173-80. doi: 10.1161/CIRCEP.111.965343. Epub 2012 Jan 13.
Iodice V, Lipp A, Ahlskog JE, Sandroni P, Fealey RD, Parisi JE, Matsumoto JY, Benarroch EE, Kimpinski K, Singer W, Gehrking TL, Gehrking JA, Sletten DM, Schmeichel AM, Bower JH, Gilman S, Figueroa J, Low PA. Autopsy confirmed multiple system atrophy cases: Mayo experience and role of autonomic function tests. J Neurol Neurosurg Psychiatry. 2012 Apr;83(4):453-9. doi: 10.1136/jnnp-2011-301068. Epub 2012 Jan 6.
Macefield VG, Norcliffe-Kaufmann L, Gutiérrez J, Axelrod FB, Kaufmann H. Can loss of muscle spindle afferents explain the ataxic gait in Riley-Day syndrome?. Brain. 2011 Nov;134(Pt 11):3198-208. doi: 10.1093/brain/awr168.
Axelrod FB, Liebes L, Gold-Von Simson G, Mendoza S, Mull J, Leyne M, Norcliffe-Kaufmann L, Kaufmann H, Slaugenhaupt SA. Kinetin improves IKBKAP mRNA splicing in patients with familial dysautonomia. Pediatr Res. 2011 Nov;70(5):480-3. doi: 10.1203/PDR.0b013e31822e1825.
Chow DC, Wood R, Choi J, Grandinetti A, Gerschenson M, Sriratanaviriyakul N, Nakamoto B, Shikuma C, Low P. Cardiovagal autonomic function in HIV-infected patients with unsuppressed HIV viremia. HIV Clin Trials. 2011 May-Jun;12(3):141-50. doi: 10.1310/hct1203-141.
Smith BA, Clayton EW, Robertson D. Experimental arrest of cerebral blood flow in human subjects: the red wing studies revisited. Perspect Biol Med. 2011 Spring;54(2):121-31. doi: 10.1353/pbm.2011.0018.
Norcliffe-Kaufmann LJ, Reynolds HR. Afferent baroreflex failure and tako-tsubo cardiomyopathy. Clin Auton Res. 2011 Feb;21(1):1-2. doi: 10.1007/s10286-010-0113-3.
Norcliffe-Kaufmann L, Axelrod F, Kaufmann H. Afferent baroreflex failure in familial dysautonomia. Neurology. 2010 Nov 23;75(21):1904-11. doi: 10.1212/WNL.0b013e3181feb283.
Shibao C, Biaggioni I. Orthostatic hypotension and cardiovascular risk. Hypertension. 2010 Dec;56(6):1042-4. doi: 10.1161/HYPERTENSIONAHA.110.162768. Epub 2010 Nov 8.
McHugh J, Keller NR, Appalsamy M, Thomas SA, Raj SR, Diedrich A, Biaggioni I, Jordan J, Robertson D. Portal osmopressor mechanism linked to transient receptor potential vanilloid 4 and blood pressure control. Hypertension. 2010 Jun;55(6):1438-43. doi: 10.1161/HYPERTENSIONAHA.110.151860. Epub 2010 Apr 12.
Mustafa HI, Robertson D. Beyond postural tachycardia syndrome. J Neurol Neurosurg Psychiatry. 2010 Mar;81(3):237-8. doi: 10.1136/jnnp.2009.180620.
Kaufmann H, Goldstein DS. Pure autonomic failure: a restricted Lewy body synucleinopathy or early Parkinson disease?. Neurology. 2010 Feb 16;74(7):536-7. doi: 10.1212/WNL.0b013e3181d26982.
Griggs RC, Batshaw M, Dunkle M, Gopal-Srivastava R, Kaye E, Krischer J, Nguyen T, Paulus K, Merkel PA; Rare Diseases Clinical Research Network. Clinical research for rare disease: opportunities, challenges, and solutions. Mol Genet Metab. 2009 Jan;96(1):20-6. doi: 10.1016/j.ymgme.2008.10.003. Epub 2008 Nov 13.
Sakai H, Hosono N, Nakazawa H, Przychodzen B, Polprasert C, Carraway HE, Sekeres MA, Radivoyevitch T, Yoshida K, Sanada M, Yoshizato T, Kataoka K, Nakagawa MM, Ueno H, Nannya Y, Kon A, Shiozawa Y, Takeda J, Shiraishi Y, Chiba K, Miyano S, Singh J, Padgett RA, Ogawa S, Maciejewski JP, Makishima H. A novel genetic and morphologic phenotype of ARID2-mediated myelodysplasia. Leukemia. 2018 Mar;32(3):839-843. doi: 10.1038/leu.2017.319. Epub 2017 Nov 3.
Sanikommu SR, Clemente MJ, Chomczynski P, Afable MG 2nd, Jerez A, Thota S, Patel B, Hirsch C, Nazha A, Desamito J, Lichtin A, Pohlman B, Sekeres MA, Radivoyevitch T, Maciejewski JP. Clinical features and treatment outcomes in large granular lymphocytic leukemia (LGLL). Leuk Lymphoma. 2018 Feb;59(2):416-422. doi: 10.1080/10428194.2017.1339880. Epub 2017 Jun 20.
Clemente MJ, Przychodzen B, Hirsch CM, Nagata Y, Bat T, Wlodarski MW, Radivoyevitch T, Makishima H, Maciejewski JP. Clonal PIGA mosaicism and dynamics in paroxysmal nocturnal hemoglobinuria. Leukemia. 2018 Nov;32(11):2507-2511. doi: 10.1038/s41375-018-0138-5. Epub 2018 Apr 25.
Makishima H, Yoshizato T, Yoshida K, Sekeres MA, Radivoyevitch T, Suzuki H, Przychodzen B, Nagata Y, Meggendorfer M, Sanada M, Okuno Y, Hirsch C, Kuzmanovic T, Sato Y, Sato-Otsubo A, LaFramboise T, Hosono N, Shiraishi Y, Chiba K, Haferlach C, Kern W, Tanaka H, Shiozawa Y, Gómez-Seguí I, Husseinzadeh HD, Thota S, Guinta KM, Dienes B, Nakamaki T, Miyawaki S, Saunthararajah Y, Chiba S, Miyano S, Shih LY, Haferlach T, Ogawa S, Maciejewski JP. Dynamics of clonal evolution in myelodysplastic syndromes. Nat Genet. 2017 Feb;49(2):204-212. doi: 10.1038/ng.3742. Epub 2016 Dec 19.
Hosono N, Makishima H, Jerez A, Yoshida K, Przychodzen B, McMahon S, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Sanada M, Gómez-Seguí I, Verma AK, McDevitt MA, Sekeres MA, Ogawa S, Maciejewski JP. Recurrent genetic defects on chromosome 7q in myeloid neoplasms. Leukemia. 2014 Jun;28(6):1348-51. doi: 10.1038/leu.2014.25. Epub 2014 Jan 16.
Gómez-Seguí I, Makishima H, Jerez A, Yoshida K, Przychodzen B, Miyano S, Shiraishi Y, Husseinzadeh HD, Guinta K, Clemente M, Hosono N, McDevitt MA, Moliterno AR, Sekeres MA, Ogawa S, Maciejewski JP. Novel recurrent mutations in the RAS-like GTP-binding gene RIT1 in myeloid malignancies. Leukemia. 2013 Sep;27(9):1943-6. doi: 10.1038/leu.2013.179. Epub 2013 Jun 14.
Bai F, Villagra AV, Zou J, Painter JS, Connolly K, Blaskovich MA, Sokol L, Sebti S, Djeu JY, Loughran TP, Wei S, Sotomayor E, Epling-Burnette P. Tipifarnib-mediated suppression of T-bet-dependent signaling pathways. Cancer Immunol Immunother. 2012 Apr;61(4):523-33. doi: 10.1007/s00262-011-1109-0. Epub 2011 Oct 9.
Sekeres MA, Tiu RV, Komrokji R, Lancet J, Advani AS, Afable M, Englehaupt R, Juersivich J, Cuthbertson D, Paleveda J, Tabarroki A, Visconte V, Makishima H, Jerez A, Paquette R, List AF, Maciejewski JP. Phase 2 study of the lenalidomide and azacitidine combination in patients with higher-risk myelodysplastic syndromes. Blood. 2012 Dec 13;120(25):4945-51. doi: 10.1182/blood-2012-06-434639. Epub 2012 Aug 22.
Nyland SB, Krissinger DJ, Clemente MJ, Irby RB, Baab KT, Jarbadan NR, Sokol L, Schaefer E, Liao J, Cuthbertson D, Epling-Burnette P, Paquette R, List AF, Maciejewski JP, Loughran TP Jr. Seroreactivity to LGL leukemia-specific epitopes in aplastic anemia, myelodysplastic syndrome and paroxysmal nocturnal hemoglobinuria: results of a bone marrow failure consortium study. Leuk Res. 2012 May;36(5):581-7. doi: 10.1016/j.leukres.2012.02.001. Epub 2012 Mar 2.
Sekeres MA, O'Keefe C, List AF, Paulic K, Afable M 2nd, Englehaupt R, Maciejewski JP. Demonstration of additional benefit in adding lenalidomide to azacitidine in patients with higher-risk myelodysplastic syndromes. Am J Hematol. 2011 Jan;86(1):102-3. doi: 10.1002/ajh.21891.
Sekeres MA, Maciejewski JP, Erba HP, Afable M, Englehaupt R, Sobecks R, Advani A, Seel S, Chan J, Kalaycio ME. A Phase 2 study of combination therapy with arsenic trioxide and gemtuzumab ozogamicin in patients with myelodysplastic syndromes or secondary acute myeloid leukemia. Cancer. 2011 Mar 15;117(6):1253-61. doi: 10.1002/cncr.25686. Epub 2010 Oct 19.
Afable MG 2nd, Shaik M, Sugimoto Y, Elson P, Clemente M, Makishima H, Sekeres MA, Lichtin A, Advani A, Kalaycio M, Tiu RV, O'Keefe CL, Maciejewski JP. Efficacy of rabbit anti-thymocyte globulin in severe aplastic anemia. Haematologica. 2011 Sep;96(9):1269-75. doi: 10.3324/haematol.2011.042622. Epub 2011 May 23.
Makishima H, Rataul M, Gondek LP, Huh J, Cook JR, Theil KS, Sekeres MA, Kuczkowski E, O'Keefe C, Maciejewski JP. FISH and SNP-A karyotyping in myelodysplastic syndromes: improving cytogenetic detection of del(5q), monosomy 7, del(7q), trisomy 8 and del(20q). Leuk Res. 2010 Apr;34(4):447-53. doi: 10.1016/j.leukres.2009.08.023. Epub 2009 Sep 15.
Jasek M, Gondek LP, Bejanyan N, Tiu R, Huh J, Theil KS, O'Keefe C, McDevitt MA, Maciejewski JP. TP53 mutations in myeloid malignancies are either homozygous or hemizygous due to copy number-neutral loss of heterozygosity or deletion of 17p. Leukemia. 2010 Jan;24(1):216-9. doi: 10.1038/leu.2009.189. Epub 2009 Sep 17.
Bejanyan N, Fu AZ, Lazaryan A, Fu R, Kalaycio M, Advani A, Sobecks R, Copelan E, Maciejewski JP, Sekeres MA. Impact of weekend admissions on quality of care and outcomes in patients with acute myeloid leukemia. Cancer. 2010 Aug 1;116(15):3614-20. doi: 10.1002/cncr.25086.
Sekeres MA, List AF, Cuthbertson D, Paquette R, Ganetzky R, Latham D, Paulic K, Afable M, Saba HI, Loughran TP Jr, Maciejewski JP. Phase I combination trial of lenalidomide and azacitidine in patients with higher-risk myelodysplastic syndromes. J Clin Oncol. 2010 May 1;28(13):2253-8. doi: 10.1200/JCO.2009.26.0745. Epub 2010 Mar 30.
Szpurka H, Jankowska AM, Makishima H, Bodo J, Bejanyan N, Hsi ED, Sekeres MA, Maciejewski JP. Spectrum of mutations in RARS-T patients includes TET2 and ASXL1 mutations. Leuk Res. 2010 Aug;34(8):969-73. doi: 10.1016/j.leukres.2010.02.033. Epub 2010 Mar 23.
Mohan SR, Clemente MJ, Afable M, Cazzolli HN, Bejanyan N, Wlodarski MW, Lichtin AE, Maciejewski JP. Therapeutic implications of variable expression of CD52 on clonal cytotoxic T cells in CD8+ large granular lymphocyte leukemia. Haematologica. 2009 Oct;94(10):1407-14. doi: 10.3324/haematol.2009.009191.
Sekeres MA, Elson P, Kalaycio ME, Advani AS, Copelan EA, Faderl S, Kantarjian HM, Estey E. Time from diagnosis to treatment initiation predicts survival in younger, but not older, acute myeloid leukemia patients. Blood. 2009 Jan 1;113(1):28-36. doi: 10.1182/blood-2008-05-157065. Epub 2008 Sep 30.
Sekeres MA, Steensma DP. Defining prior therapy in myelodysplastic syndromes and criteria for relapsed and refractory disease: implications for clinical trial design and enrollment. Blood. 2009 Sep 24;114(13):2575-80. doi: 10.1182/blood-2009-06-228114. Epub 2009 Jul 15.
Zou JX, Rollison DE, Boulware D, Chen DT, Sloand EM, Pfannes LV, Goronzy JJ, Bai F, Painter JS, Wei S, Cosgrove D, List AF, Epling-Burnette PK. Altered naive and memory CD4+ T-cell homeostasis and immunosenescence characterize younger patients with myelodysplastic syndrome. Leukemia. 2009 Jul;23(7):1288-96. doi: 10.1038/leu.2009.14. Epub 2009 Mar 12.
Dunbar AJ, Gondek LP, O'Keefe CL, Makishima H, Rataul MS, Szpurka H, Sekeres MA, Wang XF, McDevitt MA, Maciejewski JP. 250K single nucleotide polymorphism array karyotyping identifies acquired uniparental disomy and homozygous mutations, including novel missense substitutions of c-Cbl, in myeloid malignancies. Cancer Res. 2008 Dec 15;68(24):10349-57. doi: 10.1158/0008-5472.CAN-08-2754.
Sekeres MA, Maciejewski JP, Giagounidis AA, Wride K, Knight R, Raza A, List AF. Relationship of treatment-related cytopenias and response to lenalidomide in patients with lower-risk myelodysplastic syndromes. J Clin Oncol. 2008 Dec 20;26(36):5943-9. doi: 10.1200/JCO.2007.15.5770. Epub 2008 Nov 17.
Sekeres MA, Schoonen WM, Kantarjian H, List A, Fryzek J, Paquette R, Maciejewski JP. Characteristics of US patients with myelodysplastic syndromes: results of six cross-sectional physician surveys. J Natl Cancer Inst. 2008 Nov 5;100(21):1542-51. doi: 10.1093/jnci/djn349. Epub 2008 Oct 28.
Epling-Burnette PK, Sokol L, Chen X, Bai F, Zhou J, Blaskovich MA, Zou J, Painter JS, Edwards TD, Moscinski L, Yoder JA, Djeu JY, Sebti S, Loughran TP Jr, Wei S. Clinical improvement by farnesyltransferase inhibition in NK large granular lymphocyte leukemia associated with imbalanced NK receptor signaling. Blood. 2008 Dec 1;112(12):4694-8. doi: 10.1182/blood-2008-02-136382. Epub 2008 Sep 12.
Subbiah V, Viny AD, Rosenblatt S, Pohlman B, Lichtin A, Maciejewski JP. Outcomes of splenectomy in T-cell large granular lymphocyte leukemia with splenomegaly and cytopenia. Exp Hematol. 2008 Sep;36(9):1078-83. doi: 10.1016/j.exphem.2008.04.005. Epub 2008 Jun 11.
Wlodarski MW, Nearman Z, Jiang Y, Lichtin A, Maciejewski JP. Clonal predominance of CD8(+) T cells in patients with unexplained neutropenia. Exp Hematol. 2008 Mar;36(3):293-300. doi: 10.1016/j.exphem.2007.11.011.
Nearman ZP, Wlodarski M, Jankowska AM, Howe E, Narvaez Y, Ball E, Maciejewski JP. Immunogenetic factors determining the evolution of T-cell large granular lymphocyte leukaemia and associated cytopenias. Br J Haematol. 2007 Jan;136(2):237-48. doi: 10.1111/j.1365-2141.2006.06429.x. Epub 2006 Nov 30.
Golshayan AR, Jin T, Maciejewski J, Fu AZ, Bershadsky B, Kattan MW, Kalaycio ME, Sekeres MA. Efficacy of growth factors compared to other therapies for low-risk myelodysplastic syndromes. Br J Haematol. 2007 Apr;137(2):125-32. doi: 10.1111/j.1365-2141.2007.06546.x.
Sekeres MA, Fu AZ, Maciejewski JP, Golshayan AR, Kalaycio ME, Kattan MW. A Decision analysis to determine the appropriate treatment for low-risk myelodysplastic syndromes. Cancer. 2007 Mar 15;109(6):1125-32. doi: 10.1002/cncr.22497.
Graves TD, Griggs RC, Bundy BN, Jen JC, Baloh RW, Hanna MG; CINCH Investigators. Episodic Ataxia Type 1: Natural History and Effect on Quality of Life. Cerebellum. 2023 Aug;22(4):578-586. doi: 10.1007/s12311-021-01360-6. Epub 2022 Jun 3.
Fullam TR, Chandrashekhar S, Farmakidis C, Jawdat O, Pasnoor M, Dimachkie MM, Statland JM; CINCH Consortium. Non-dystrophic myotonia: 2-year clinical and patient reported outcomes. Muscle Nerve. 2022 Aug;66(2):148-158. doi: 10.1002/mus.27649. Epub 2022 Jun 16.
Tan SV, Suetterlin K, Männikkö R, Matthews E, Hanna MG, Bostock H. In vivo assessment of interictal sarcolemmal membrane properties in hypokalaemic and hyperkalaemic periodic paralysis. Clin Neurophysiol. 2020 Apr;131(4):816-827. doi: 10.1016/j.clinph.2019.12.414. Epub 2020 Jan 27.
Tan SV, Z'Graggen WJ, Hanna MG, Bostock H. In vivo assessment of muscle membrane properties in the sodium channel myotonias. Muscle Nerve. 2018 Apr;57(4):586-594. doi: 10.1002/mus.25956. Epub 2017 Sep 23.
Tomlinson SE, Tan SV, Burke D, Labrum RW, Haworth A, Gibbons VS, Sweeney MG, Griggs RC, Kullmann DM, Bostock H, Hanna MG. In vivo impact of presynaptic calcium channel dysfunction on motor axons in episodic ataxia type 2. Brain. 2016 Feb;139(Pt 2):380-91. doi: 10.1093/brain/awv380.
Tan SV, Z'graggen WJ, Boërio D, Turner C, Hanna MG, Bostock H. In vivo assessment of muscle membrane properties in myotonic dystrophy. Muscle Nerve. 2016 Aug;54(2):249-57. doi: 10.1002/mus.25025. Epub 2016 May 24.
Ke Q, He F, Lu L, Yu P, Jiang Y, Weng C, Huang H, Yi X, Qi M. The R900S mutation in CACNA1S associated with hypokalemic periodic paralysis. Neuromuscul Disord. 2015 Dec;25(12):955-8. doi: 10.1016/j.nmd.2015.09.006. Epub 2015 Sep 9.
Tan SV, Z'Graggen WJ, Boërio D, Rayan DR, Norwood F, Ruddy D, Howard R, Hanna MG, Bostock H. Chloride channels in myotonia congenita assessed by velocity recovery cycles. Muscle Nerve. 2014 Jun;49(6):845-57. doi: 10.1002/mus.24069. Epub 2014 May 2.
Ke Q, Qi M, Wu W, Luo B, Hanna M, Herr B, Griggs RC; Consortium for Investigation of Neurological Channelopathies (CINCH). Rare disease centers for periodic paralysis: China versus the United States and United Kingdom. Muscle Nerve. 2014 Feb;49(2):171-4. doi: 10.1002/mus.23970.
Graves TD, Cha YH, Hahn AF, Barohn R, Salajegheh MK, Griggs RC, Bundy BN, Jen JC, Baloh RW, Hanna MG; CINCH Investigators. Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation. Brain. 2014 Apr;137(Pt 4):1009-18. doi: 10.1093/brain/awu012. Epub 2014 Feb 26.
Ke Q, Luo B, Qi M, Du Y, Wu W. Gender differences in penetrance and phenotype in hypokalemic periodic paralysis. Muscle Nerve. 2013 Jan;47(1):41-5. doi: 10.1002/mus.23460. Epub 2012 Sep 27.
Trivedi JR, Bundy B, Statland J, Salajegheh M, Rayan DR, Venance SL, Wang Y, Fialho D, Matthews E, Cleland J, Gorham N, Herbelin L, Cannon S, Amato A, Griggs RC, Hanna MG, Barohn RJ; CINCH Consortium. Non-dystrophic myotonia: prospective study of objective and patient reported outcomes. Brain. 2013 Jul;136(Pt 7):2189-200. doi: 10.1093/brain/awt133. Epub 2013 Jun 13.
Platt D, Griggs RC. Use of acetazolamide in sulfonamide-allergic patients with neurologic channelopathies. Arch Neurol. 2012 Apr;69(4):527-9. doi: 10.1001/archneurol.2011.2723. Epub 2011 Dec 12.
Statland JM, Bundy BN, Wang Y, Rayan DR, Trivedi JR, Sansone VA, Salajegheh MK, Venance SL, Ciafaloni E, Matthews E, Meola G, Herbelin L, Griggs RC, Barohn RJ, Hanna MG; Consortium for Clinical Investigation of Neurologic Channelopathies. Mexiletine for symptoms and signs of myotonia in nondystrophic myotonia: a randomized controlled trial. JAMA. 2012 Oct 3;308(13):1357-65. doi: 10.1001/jama.2012.12607.
Murphy SM, Puwanant A, Griggs RC; Consortium for Clinical Investigations of Neurological Channelopathies (CINCH) and Inherited Neuropathies Consortium (INC) Consortia of the Rare Disease Clinical Research Network. Unintended effects of orphan product designation for rare neurological diseases. Ann Neurol. 2012 Oct;72(4):481-90. doi: 10.1002/ana.23672.
Statland JM, Bundy BN, Wang Y, Trivedi JR, Raja Rayan D, Herbelin L, Donlan M, McLin R, Eichinger KJ, Findlater K, Dewar L, Pandya S, Martens WB, Venance SL, Matthews E, Amato AA, Hanna MG, Griggs RC, Barohn RJ; CINCH Consortium. A quantitative measure of handgrip myotonia in non-dystrophic myotonia. Muscle Nerve. 2012 Oct;46(4):482-9. doi: 10.1002/mus.23402.
Tan SV, Z'graggen WJ, Boërio D, Rayan DL, Howard R, Hanna MG, Bostock H. Membrane dysfunction in Andersen-Tawil syndrome assessed by velocity recovery cycles. Muscle Nerve. 2012 Aug;46(2):193-203. doi: 10.1002/mus.23293.
Raja Rayan DL, Haworth A, Sud R, Matthews E, Fialho D, Burge J, Portaro S, Schorge S, Tuin K, Lunt P, McEntagart M, Toscano A, Davis MB, Hanna MG. A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1. Neurology. 2012 Jun 12;78(24):1953-8. doi: 10.1212/WNL.0b013e318259e19c. Epub 2012 May 30.
Matthews E, Portaro S, Ke Q, Sud R, Haworth A, Davis MB, Griggs RC, Hanna MG. Acetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotype. Neurology. 2011 Nov 29;77(22):1960-4. doi: 10.1212/WNL.0b013e31823a0cb6. Epub 2011 Nov 16.
Wan J, Mamsa H, Johnston JL, Spriggs EL, Singer HS, Zee DS, Al-Bayati AR, Baloh RW, Jen JC; CINCH Investigators. Large Genomic Deletions in CACNA1A Cause Episodic Ataxia Type 2. Front Neurol. 2011 Sep 9;2:51. doi: 10.3389/fneur.2011.00051. eCollection 2011.
Matthews E, Miller JA, MacLeod MR, Ironside J, Ambler G, Labrum R, Sud R, Holton JL, Hanna MG. Sodium and chloride channelopathies with myositis: coincidence or connection?. Muscle Nerve. 2011 Aug;44(2):283-8. doi: 10.1002/mus.22120. Epub 2011 Jun 22.
Tan SV, Matthews E, Barber M, Burge JA, Rajakulendran S, Fialho D, Sud R, Haworth A, Koltzenburg M, Hanna MG. Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies. Ann Neurol. 2011 Feb;69(2):328-40. doi: 10.1002/ana.22238.
Tomlinson SE, Tan SV, Kullmann DM, Griggs RC, Burke D, Hanna MG, Bostock H. Nerve excitability studies characterize Kv1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1. Brain. 2010 Dec;133(Pt 12):3530-40. doi: 10.1093/brain/awq318. Epub 2010 Nov 23.
Griggs RC. The AAN disciplinary process: indispensable to neurologists. Neurology. 2010 Dec 14;75(24):2148-9. doi: 10.1212/WNL.0b013e318205cd7b. Epub 2010 Nov 17.
Matthews E, Fialho D, Tan SV, Venance SL, Cannon SC, Sternberg D, Fontaine B, Amato AA, Barohn RJ, Griggs RC, Hanna MG; CINCH Investigators. The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment. Brain. 2010 Jan;133(Pt 1):9-22. doi: 10.1093/brain/awp294. Epub 2009 Nov 16.
Jen JC, Baloh RW. Familial episodic ataxia: a model for migrainous vertigo. Ann N Y Acad Sci. 2009 May;1164:252-6. doi: 10.1111/j.1749-6632.2008.03723.x.
Platt D, Griggs R. Skeletal muscle channelopathies: new insights into the periodic paralyses and nondystrophic myotonias. Curr Opin Neurol. 2009 Oct;22(5):524-31. doi: 10.1097/WCO.0b013e32832efa8f.
de Vries B, Mamsa H, Stam AH, Wan J, Bakker SL, Vanmolkot KR, Haan J, Terwindt GM, Boon EM, Howard BD, Frants RR, Baloh RW, Ferrari MD, Jen JC, van den Maagdenberg AM. Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake. Arch Neurol. 2009 Jan;66(1):97-101. doi: 10.1001/archneurol.2008.535.
Griggs RC, Batshaw M, Dunkle M, Gopal-Srivastava R, Kaye E, Krischer J, Nguyen T, Paulus K, Merkel PA; Rare Diseases Clinical Research Network. Clinical research for rare disease: opportunities, challenges, and solutions. Mol Genet Metab. 2009 Jan;96(1):20-6. doi: 10.1016/j.ymgme.2008.10.003. Epub 2008 Nov 13.
Jen JC. Hereditary episodic ataxias. Ann N Y Acad Sci. 2008 Oct;1142:250-3. doi: 10.1196/annals.1444.016.
Craig K, Elliott HR, Keers SM, Lambert C, Pyle A, Graves TD, Woodward C, Sweeney MG, Davis MB, Hanna MG, Chinnery PF. Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation. J Med Genet. 2007 Dec;44(12):797-9. doi: 10.1136/jmg.2007.052902.
Jen JC, Graves TD, Hess EJ, Hanna MG, Griggs RC, Baloh RW; CINCH investigators. Primary episodic ataxias: diagnosis, pathogenesis and treatment. Brain. 2007 Oct;130(Pt 10):2484-93. doi: 10.1093/brain/awm126. Epub 2007 Jun 15.
Venance SL, Herr BE, Griggs RC. Challenges in the design and conduct of therapeutic trials in channel disorders. Neurotherapeutics. 2007 Apr;4(2):199-204. doi: 10.1016/j.nurt.2007.01.004.
Thomsen M, Ott F, Loens S, Kilic-Berkmen G, Tan AH, Lim SY, Lohmann E, Schröder KM, Ipsen L, Nothacker LA, Welzel L, Rudnik AS, Hinrichs F, Odorfer T, Zeuner KE, Schumann F, Kühn AA, Zittel S, Moeller M, Pfister R, Kamm C, Lang AE, Tay YW, de Almeida Marcelino AL, Vidailhet M, Roze E, Perlmutter JS, Feuerstein JS, Fung VSC, Chang F, Barbano RL, Bellows S, Wagle Shukla AA, Espay AJ, LeDoux MS, Berman BD, Reich S, Deik A, Franke A, Wittig M, Franzenburg S, Volkmann J, Brüggemann N, Jinnah HA, Bäumer T, Klein C, Busch H, Lohmann K. Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing. Ann Clin Transl Neurol. 2025 Jun 18. doi: 10.1002/acn3.70100. Epub ahead of print. PMID: 40533913.
Dystonia is one of the most prevalent movement disorders, characterized by involuntary muscle contractions leading to abnormal postures and repetitive movements. Due to the broad spectrum of clinical manifestations and the increasing number of dystonia-linked genes, not much is known about the correlations between clinical manifestations and genetic variants.
In this study, researchers explored genetic diversity and phenotypes in dystonia. The team used exome sequencing among 1,924 genetically unsolved, mainly late-onset isolated dystonia patients to examine and analyze rare variants in genes previously linked to dystonia.
Results revealed 137 pathogenic or likely pathogenic variants across 51 genes in 163 patients. Authors note that the findings provide crucial insights into the relevance of genetic forms of dystonia and their corresponding phenotypes, aiding future variant interpretation and clinical diagnostics.
Bukhari-Parlakturk N, Mulcahey PJ, Fei M, Lutz MW, Voyvodic JT, Davis SW, Michael AM. Increased sensorimotor and superior parietal activation correlate with reduced writing dysfluency in writer's cramp dystonia. medRxiv [Preprint]. 2025 Mar 21:2025.03.20.25324331. doi: 10.1101/2025.03.20.25324331.
Bukhari-Parlakturk N, Mulcahey PJ, Lutz MW, Ghazi R, Huang Z, Dannhauer M, Termsarasab P, Scott B, Simsek ZB, Groves S, Lipp M, Fei M, Tran TK, Wood E, Beynel L, Petty C, Voyvodic JT, Appelbaum LG, Al-Khalidi HR, Davis SW, Michael AM, Peterchev AV, Calakos N. Motor network reorganization associated with rTMS-induced writing improvement in writer's cramp dystonia. Brain Stimul. 2025 Mar-Apr;18(2):198-210. doi: 10.1016/j.brs.2025.02.005. Epub 2025 Feb 7.
Hoffmeister JD, Konczak J, Misono SN. Characterization of Upper Esophageal Sphincter Pressures Relative to Vocal Acoustics. J Appl Physiol (1985). 2024 Dec 6. doi: 10.1152/japplphysiol.00385.2024. Online ahead of print.
Thomsen M, Ott F, Loens S, Kilic-Berkmen G, Tan AH, Lim SY, Lohmann E, Schröder KM, Ipsen L, Nothacker LA, Welzel L, Rudnik AS, Hinrichs F, Odorfer T, Zeuner KE, Schumann F, Kühn AA, Zittel S, Moeller M, Pfister R, Kamm C, Lang AE, Tay YW, Vidailhet M, Roze E, Perlmutter JS, Feuerstein JS, Fung VSC, Chang F, Barbano RL, Bellows S, Shukla AAW, Espay AJ, LeDoux MS, Berman BD, Reich S, Deik A, Franke A, Wittig M, Franzenburg S, Volkmann J, Brüggemann N, Jinnah HA, Bäumer T, Klein C, Busch H, Lohmann K. Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing. medRxiv [Preprint]. 2024 Dec 5:2024.12.02.24316741. doi: 10.1101/2024.12.02.24316741.
Laabs BH, Lohmann K, Vollstedt EJ, Reinberger T, Nuxoll LM, Kilic-Berkmen G, Perlmutter JS, Loens S, Cruchaga C, Franke A, Dobricic V, Hinrichs F, Grözinger A, Altenmüller E, Bellows S, Boesch S, Bressman SB, Duque KR, Espay AJ, Ferbert A, Feuerstein JS, Frank S, Gasser T, Haslinger B, Jech R, Kaiser F, Kamm C, Kollewe K, Kühn AA, LeDoux MS, Lohmann E, Mahajan A, Münchau A, Multhaupt-Buell T, Pantelyat A, Pirio Richardson SE, Raymond D, Reich SG, Saunders Pullman R, Schormair B, Sharma N, Sichani AH, Simonyan K, Volkmann J, Wagle Shukla A, Winkelmann J, Wright LJ, Zech M, Zeuner KE, Zittel S, Kasten M, Sun YV, Bäumer T, Brüggemann N, Ozelius LJ, Jinnah HA, Klein C, König IR. Genetic Risk Factors in Isolated Dystonia Escape Genome-Wide Association Studies. Mov Disord. 2024 Sep 17. doi: 10.1002/mds.29968. Online ahead of print.
Rocchi L, Latorre A, Menozzi E, Rispoli V, Rothwell JC, Berardelli A, Bhatia KP. Amelioration of Focal Hand Dystonia via Low-Frequency Repetitive Somatosensory Stimulation. Mov Disord. 2024 Sep 10. doi: 10.1002/mds.30011. Online ahead of print.
Timsina J, Dinasarapu A, Kilic-Berkmen G, Budde J, Sung YJ, Klein AM, Cruchaga C, Jinnah HA. Blood-Based Proteomics for Adult-Onset Focal Dystonias. Ann Neurol. 2024 Jul;96(1):110-120. doi: 10.1002/ana.26929. Epub 2024 Apr 5. PMID: 38578115; PMCID: PMC11186717.
Adult-onset focal dystonias are neurological disorders characterized by overactive muscles leading to involuntary, sometimes painful movements in one part of the body. In most cases, the cause and development of these disorders are unknown.
In this study, researchers used proteomics methods to identify potential changes in blood plasma proteins in patients with adult-onset focal dystonias. The team compared over 6,000 proteins in the blood plasma of participants with cervical dystonia, laryngeal dystonia, and blepharospasm, as well as healthy controls. Next, researchers identified relevant biological pathways and used protein changes to build a prediction model for dystonia.
Results show that 15 proteins were associated with adult-onset focal dystonia, with some proteins shared across multiple subgroups and others unique to just one. The top biological pathways involved changes in the immune system, metal ion transport, and reactive oxygen species. Finally, the prediction model showed high accuracy in discriminating control participants from those with dystonia. Authors note that this study provides new insights into the cause and development of dystonia, as well as new potential biomarkers.
Castagna A, Jinnah HA, Albanese A. Duration of botulinum toxin efficacy in cervical dystonia clinical trials: A scoping review. Parkinsonism Relat Disord. 2024 May 29;125:107011. doi: 10.1016/j.parkreldis.2024.107011. Online ahead of print.
Cash TV, Lessov-Schlaggar CN, Foster ER, Myers PS, Jackson JJ, Maiti B, Kotzbauer PT, Perlmutter JS, Campbell MC. Replication and reliability of Parkinson's disease clinical subtypes. Parkinsonism Relat Disord. 2024 May 22;124:107016. doi: 10.1016/j.parkreldis.2024.107016. Online ahead of print.
Kilic-Berkmen G, Scorr LM, McKay L, Thayani M, Donsante Y, Perlmutter JS, Norris SA, Wright L, Klein C, Feuerstein JS, Mahajan A, Wagle-Shukla A, Malaty I, LeDoux MS, Pirio-Richardson S, Pantelyat A, Moukheiber E, Frank S, Ondo W, Saunders-Pullman R, Lohman K, Hess EJ, Jinnah HA. Sex Differences in Dystonia. Mov Disord Clin Pract. 2024 May 22. doi: 10.1002/mdc3.14059. Epub ahead of print. PMID: 38778444.
Dystonia is a neurological disorder characterized by excessive muscle contractions leading to abnormal postures, movements, and pain. Previous studies have suggested that there are more female individuals with certain types of dystonia compared to male individuals. However, not much is known about the factors that impact these differences or the mechanisms behind them.
In this study, researchers explored the factors and mechanisms underlying differences between males and females with dystonia. The team analyzed data from two different sources, including 3,222 individuals from the Dystonia Coalition database and 1,377 individuals from the Movement Disorder Society Genetic mutation (MDSGene) database.
Results show that female individuals outnumber male individuals for both adult-onset idiopathic and early onset monogenic (single-gene) dystonias, with females making up about two-thirds of all cases. In addition, these findings reveal that the ratio of females to males with dystonia depends on the type of dystonia, age, and underlying genetics.
Di Luca DG, Perlmutter JS. Time for Clinical Dopamine Transporter Scans in Parkinsonism?: Not DAT Yet. Neurology. 2024 Jun 11;102(11):e209558. doi: 10.1212/WNL.0000000000209558. Epub 2024 May 17.
Thayani M, Jinnah HA. Can symptoms or signs of cervical dystonia occur without abnormal movements of the head or neck?. Parkinsonism Relat Disord. 2024 Jun;123:106958. doi: 10.1016/j.parkreldis.2024.106958. Epub 2024 Apr 16.
Kilic-Berkmen G, Scorr LM, Defazio G, Jinnah HA. Thyroid disease and cervical dystonia. Parkinsonism Relat Disord. 2024 Mar 2:106082. doi: 10.1016/j.parkreldis.2024.106082. Epub ahead of print. PMID: 38458834.
Scorr LM, Kilic-Berkmen G, Sutcliffe DJ, Dinasarapu AR, McKay JL, Bagchi P, Powell MD, Boss JM, Cereb N, Little M, Gragert L, Hanfelt J, McKeon A, Tyor W, Jinnah HA. Exploration of potential immune mechanisms in cervical dystonia. Parkinsonism Relat Disord. 2024 Feb 17:106036. doi: 10.1016/j.parkreldis.2024.106036. Epub ahead of print. PMID: 38462403.
Kilic-Berkmen G, Kim H, Chen D, Yeo CI, Dinasarapu AR, Scorr LM, Yeo WH, Peterson DA, Williams H, Ruby A, Mills R, Jinnah HA. An Exploratory, Randomized, Double-Blind Clinical Trial of Dipraglurant for Blepharospasm. Mov Disord. 2024 Feb 3. doi: 10.1002/mds.29734. Epub ahead of print. PMID: 38310362.
Blepharospasm is a type of dystonia (involuntary muscle twitching) which affects the muscles surrounding both eyes, causing forced blinking, eye irritation, and involuntary closure of the eyes. Although blepharospasm can be treated with a medication called botulinum toxin, outcomes are often inconsistent.
In this study, researchers conducted an exploratory, randomized, double-blind clinical trial of the oral drug dipraglurant for blepharospasm. Fifteen individuals with blepharospasm received either a placebo or dipraglurant. The team used multiple scales rated by clinicians or participants, digital video, and a wearable sensor to assess outcomes.
Results show that although dipraglurant was well tolerated in study participants, it did not produce an obvious benefit. Authors note that these results provide valuable information for planning future trials in blepharospasm.
Beylergil SB, Mukunda KN, Elkasaby M, Perlmutter JS, Factor S, Bäumer T, Feurestein J, Shelton E, Bellows S, Jankovic J, Mahajan A, Wamer-Rosen T, Reich SG, Shukla AW, Malaty I, Espay A, Duque K, LeDoux MS, Saunders-Pullman R, Leaver K, Frank S, Pantelyat A, Fung V, Richardson SP, Berman B, Stover N, Deik A, Ondo W, Groth C, Jinnah HA, Shaikh AG. Tremor in cervical dystonia. Dystonia. 2024;3:11309. doi: 10.3389/dyst.2024.11309. Epub 2024 Mar 21.
Boz D, Kilic-Berkmen G, Perlmutter JS, Norris SA, Wright LJ, Klein C, Bäumer T, Löns S, Feuerstein JS, Mahajan A, Wagle-Shukla A, Malaty I, LeDoux MS, Ondo W, Pantelyat A, Frank S, Saunders-Pullman R, Jinnah HA. An Empirical Comparison of Commonly Used Universal Rating Scales for Dystonia. Mov Disord Clin Pract. 2023 Nov 12;10(12):1777-1786. doi: 10.1002/mdc3.13909. eCollection 2023 Dec.
Ghanouni A, Jona N, Jinnah HA, Kilic-Berkmen G, Shelly S, Klein AM. Demographics and Clinical Characteristics Associated with the Spread of New-Onset Laryngeal Dystonia. Laryngoscope. 2024 May;134(5):2295-2299. doi: 10.1002/lary.31146. Epub 2023 Nov 1.
Junker J, Hall J, Berman BD, Vidailhet M, Roze E, Bäumer T, Malaty IA, Shukla AW, Jankovic J, Reich SG, Espay AJ, Duque KR, Patel N, Perlmutter JS, Jinnah HA; Dystonia Coalition Study Group; Brandt V, Brüggemann N. Longitudinal predictors of health-related quality of life in isolated dystonia. J Neurol. 2023 Oct 15. doi: 10.1007/s00415-023-12022-4. Online ahead of print.
Lee HY, Park I, Luu MP, Zhao J, Vu JP, Cisneros E, Berman BD, Jinnah HA, Kim HJ, Liu CY, Perlmutter JS, Richardson SP, Weissbach A, Stebbins GT, Peterson DA. Interrater reliability of motor severity scales for hemifacial spasm. J Neural Transm (Vienna). 2023 Oct;130(10):1269-1279. doi: 10.1007/s00702-023-02667-w. Epub 2023 Jul 19.
Cotton AC, Scorr L, McDonald W, Comella C, Perlmutter JS, Goetz CG, Jankovic J, Marsh L, Factor S, Jinnah HA. Assessing the Severity of Cervical Dystonia: Ask the Doctor or Ask the Patient. Mov Disord Clin Pract. 2023 Aug 3;10(9):1399-1403. doi: 10.1002/mdc3.13827. PMID: 37772296; PMCID: PMC10525044
Cervical dystonia is a rare, often painful, movement disorder associated with characteristic sustained or jerky involuntary muscle contractions of the neck. The severity of cervical dystonia can be assessed using either clinician-rated scales (CRS) or patient-rated outcome (PRO) tools. However, these two measures are often poorly correlated.
In this study, researchers aimed to determine if the correlation between a CRS and PRO for the movement disorder of cervical dystonia improves by accounting for non-movement features. The team evaluated 209 patients with cervical dystonia using a CRS and a PRO.
The results revealed a weak correlation between the two measures, even when considering only the movement. However, the correlation improved with a model that included non-motor symptoms of pain, depression, and disability. These results suggest that assessing the movement disorder with a PRO should also include assessments of non-motor symptoms that may contribute to the patient’s perception of the disorder. Findings may apply to other disorders, especially those with frequent non-motor co-morbidities.
Aravamuthan BR, Pearson TS, Ueda K, Miao H, Zerafati-Jahromi G, Gilbert L, Comella C, Perlmutter JS. Determinants of gait dystonia severity in cerebral palsy. Dev Med Child Neurol. 2023 Jul;65(7):968-977. doi: 10.1111/dmcn.15524. Epub 2023 Jan 26.
Younce JR, Cascella RH, Berman BD, Jinnah HA, Bellows S, Feuerstein J, Wagle Shukla A, Mahajan A, Chang FCF, Duque KR, Reich S, Richardson SP, Deik A, Stover N, Luna JM, Norris SA. Anatomical categorization of isolated non-focal dystonia: novel and existing patterns using a data-driven approach. Dystonia. 2023;2:11305. doi: 10.3389/dyst.2023.11305. Epub 2023 Jun 8. PMID: 37920445; PMCID: PMC10621194
Dystonia is a neurological disorder characterized by excessive muscle contractions leading to abnormal postures, movements, and pain. Any region of the body can be involved, either in isolation or in combination with another region of the body. Although accurate classification of these combinations is important to providing care, it can sometimes be inconsistent.
In this study, researchers used a data-driven clustering approach to investigate which combinations are most common in dystonia. The team analyzed 1,618 participants with isolated non-focal dystonia from the Dystonia Coalition database to explore which body regions were affected together.
Results reinforce common patterns in cranial and cervical regions. However, findings also show unexpectedly strong associations between bilateral upper or lower limbs, revealing new patterns that may represent an underrecognized dystonia subtype.
Albanese A, Wissel J, Jost WH, Castagna A, Althaus M, Comes G, Scheschonka A, Vacchelli M, Jinnah HA. Pain Reduction in Cervical Dystonia Following Treatment with IncobotulinumtoxinA: A Pooled Analysis. Toxins (Basel). 2023 May 12;15(5):333. doi: 10.3390/toxins15050333.
Vizcarra JA, Jinnah HA. What Is Hemidystonia. Mov Disord Clin Pract. 2023 Feb 3;10(3):477-481. doi: 10.1002/mdc3.13659. eCollection 2023 Mar.
Kilic-Berkmen G, Scorr L, Rosen A, Wu E, Freeman A, Silver M, Hanfelt J, Jinnah HA. Thyroid disease in cervical dystonia. Parkinsonism Relat Disord. 2023 Feb;107:105274. doi: 10.1016/j.parkreldis.2022.105274. Epub 2022 Dec 30. PMID: 36621155.
Bukhari-Parlakturk N, Lutz MW, Al-Khalidi HR, Unnithan S, Wang JE, Scott B, Termsarasab P, Appelbaum LG, Calakos N. Suitability of Automated Writing Measures for Clinical Trial Outcome in Writer's Cramp. Mov Disord. 2023 Jan;38(1):123-132. doi: 10.1002/mds.29237. Epub 2022 Oct 13.
Hosseini M, Kassavetis P, Hallett M. Video analysis of patients with blepharospasm and lower face dystonias. Dystonia. 2023;2:11385. doi: 10.3389/dyst.2023.11385. Epub 2023 Jun 15.
Corp DT, Greenwood CJ, Morrison-Ham J, Pullinen J, McDowall GM, Younger EFP, Jinnah HA, Fox MD, Joutsa J. Clinical and Structural Findings in Patients With Lesion-Induced Dystonia: Descriptive and Quantitative Analysis of Published Cases. Neurology. 2022 Nov 1;99(18):e1957-e1967. doi: 10.1212/WNL.0000000000201042. Epub 2022 Aug 17.
Defazio G, Gigante AF, Hallett M, Berardelli A, Perlmutter JS, Berman BD, Jankovic J, Bäumer T, Comella C, Ercoli T, Ferrazzano G, Fox SH, Kim HJ, Moukheiber ES, Richardson SP, Weissbach A, Jinnah HA.. Motor and psychiatric features in idiopathic blepharospasm: A data-driven cluster analysis. Parkinsonism Relat Disord. 2022 Nov;104:94-98. doi: 10.1016/j.parkreldis.2022.10.008. Epub 2022 Oct 13.
Seifar F, Dinasarapu AR, Jinnah HA.. Uric Acid in Parkinson's Disease: What Is the Connection?. Mov Disord. 2022 Nov;37(11):2173-2183. doi: 10.1002/mds.29209. Epub 2022 Sep 3.
Peterson QA, Fei T, Sy LE, Froeschke LLO, Mendelsohn AH, Berke GS, Peterson DA. Correlating perceptual voice quality in ADSD with computer vision assessment of glottal geometry dynamics. J Speech Lang Hear Res. 2022 Oct 17;65(10):3695-3708. doi: 10.1044/2022_JSLHR-22-00053. Epub 2022 Sep 21.
Vu JP, Cisneros E, Zhao J, Lee HY, Jankovic J, Factor SA, Goetz CG, Barbano RL, Perlmutter JS, Jinnah HA, Richardson SP, Stebbins GT, Elble RJ, Comella CL, Peterson DA. From null to midline: changes in head posture do not predictably change head tremor in cervical dystonia. Dystonia. 2022;1:10684. doi: 10.3389/dyst.2022.10684. Epub 2022 Sep 1. PMID: 37101941; PMCID: PMC10128866.
Kilic-Berkmen G, Defazio G, Hallett M, Berardelli A, Ferrazzano G, Belvisi D, Klein C, Bäumer T, Weissbach A, Perlmutter JS, Feuerstein J, Jinnah HA; Dystonia Coalition Investigators. Diagnosis and classification of blepharospasm: Recommendations based on empirical evidence. J Neurol Sci. 2022 Aug 15;439:120319. doi: 10.1016/j.jns.2022.120319. Epub 2022 Jun 10. PMID: 35716653; PMCID: PMC9357089.
Blepharospasm is a rare disorder characterized by spasms of muscles surrounding both eyes with excessive blinking and squinting. It is the second most common form of dystonia (involuntary muscle twitching) and often spreads to other regions of the body. Currently, guidelines for diagnosis and classification are ambiguous. In this study, researchers aimed to provide more specific recommendations for diagnosis and classification of blepharospasm. Data were obtained from the Dystonia Coalition for patients diagnosed with all types of isolated dystonia. The team evaluated these data to determine how examinations recorded by movement disorder specialists were used to classify blepharospasm as focal, segmental, or multifocal. Results showed much variability in expert opinion regarding the diagnosis of blepharospasm, which was often inconsistent with existing guidelines for the diagnosis and classification of focal blepharospasm. This study highlights the need for more specific guidelines, which are provided in the publication.
Defazio G, Hallett M, Berardelli A, Perlmutter JS, Berman BD, Jankovic J, Bäumer T, Comella C, Ercoli T, Ferrazzano G, Fox SH, Kim HJ, Moukheiber ES, Pirio Richardson S, Weissbach A, Gigante AF, Jinnah HA. Measurement Properties of Clinical Scales Rating the Severity of Blepharospasm: A Multicenter Observational Study. Mov Disord Clin Pract. 2022 Aug 15;9(7):949-955. doi: 10.1002/mdc3.13530. eCollection 2022 Oct.
Di Fonzo A, Albanese A, Jinnah HA. The apparent paradox of phenotypic diversity and shared mechanisms across dystonia syndromes. Curr Opin Neurol.. 2022 Aug 1;35(4):502-509. doi: 10.1097/WCO.0000000000001076. Epub 2022 Jul 5. PMID: 35856917; PMCID: PMC9309988.
The dystonias are a group of movement disorders characterized by uncontrollable, sometimes painful, involuntary muscle contractions, resulting in repetitive shaking, turning, and twisting of affected body parts. As new genetic causes continue to be discovered, researchers have found that these different genetic forms share unexpectedly common underlying mechanisms. In this review article, authors explore the phenotypic diversity and shared mechanisms across dystonia syndromes. They also describe how these mechanisms can give rise to motor performance dysfunctions with a clinical aspect of dystonia. Authors state that this relationship between dystonia genes could revolutionize current dystonia classification systems. In the future, these advances could have promising effects on mechanism-based therapeutic approaches.
Couto B, Martinez-Valbuena I, Lee S, Alfradique-Dunham I, Perrin RJ, Perlmutter JS, Cruchaga C, Kim A, Visanji N, Sato C, Rogaeva E, Lang AE, Kovacs GG. Protracted course progressive supranuclear palsy. Eur J Neurol. 2022 Aug;29(8):2220-2231. doi: 10.1111/ene.15346. Epub 2022 Apr 21.
Reid EW, Nobriga CV. Reid EW. Clin Linguist Phon. 2022 Jul 12:1-16. doi: 10.1080/02699206.2022.2096483. Online ahead of print.
Scorr LM, Cho HJ, Kilic-Berkmen G, McKay JL, Hallett M, Klein C, Baumer T, Berman BD, Feuerstein JS, Perlmutter JS, Berardelli A, Ferrazzano G, Wagle-Shukla A, Malaty IA, Jankovic J, Bellows ST, Barbano RL, Vidailhet M, Roze E, Bonnet C, Mahajan A, LeDoux MS, Fung VSC, Chang FCF, Defazio G, Ercoli T, Factor S, Wojno T, Jinnah HA. Clinical Features and Evolution of Blepharospasm: A Multicenter International Cohort and Systematic Literature Review. Dystonia. 2022;1:10359. doi: 10.3389/dyst.2022.10359. Epub 2022 May 16. PMID: 36248010; PMCID: PMC9557246.
Kilic-Berkmen G, Jinnah HA. Cervical Dystonia with Tremor: One Movement Disorder or Two?. Mov Disord Clin Pract. 2022 Apr 15;9(5):719-720. doi: 10.1002/mdc3.13443. eCollection 2022 Jul.
Panyakaew P, Jinnah HA, Shaikh AG. Clinical features, pathophysiology, treatment, and controversies of tremor in dystonia. J Neurol Sci. 2022 Apr 15;435:120199. doi: 10.1016/j.jns.2022.120199. Epub 2022 Feb 22. PMID: 35259651.
Hauser RA, Meyer JM, Factor SA, Comella CL, Tanner CM, Xavier RM, Caroff SN, Lundt L. Differentiating tardive dyskinesia: a video-based review of antipsychotic-induced movement disorders in clinical practice. CNS Spectr. 2022 Apr;27(2):208-217. doi: 10.1017/S109285292000200X. Epub 2020 Nov 20.
Zhang Z, Cisneros E, Lee HY, Vu JP, Chen Q, Benadof CN, Whitehill J, Rouzbehani R, Sy DT, Huang JS, Sejnowski TJ, Jankovic J, Factor S, Goetz CG, Barbano RL, Perlmutter JS, Jinnah HA, Berman BD, Richardson SP, Stebbins GT, Comella CL, Peterson DA. Hold that pose: capturing cervical dystonia's head deviation severity from video. Ann Clin Transl Neurol. 2022 Mar 25. doi: 10.1002/acn3.51549. Epub ahead of print. PMID: 35333449.
Vu JP, Cisneros E, Lee HY, Le L, Chen Q, Guo XA, Rouzbehani R, Jankovic J, Factor S, Goetz CG, Barbano RL, Perlmutter JS, Jinnah HA, Pirio Richardson S, Stebbins GT, Elble R, Comella CL, Peterson DA. Head tremor in cervical dystonia: Quantifying severity with computer vision. J Neurol Sci. 2022 Mar 15;434:120154. doi: 10.1016/j.jns.2022.120154. Epub 2022 Jan 22.
Dinasarapu AR, Sutcliffe DJ, Seifar F, Visser JE, Jinnah HA. Abnormalities of neural stem cells in Lesch-Nyhan disease. J Neurogenet. 2022 Mar-Jun;36(2-3):81-87. doi: 10.1080/01677063.2022.2129632. Epub 2022 Oct 13.
Del Bene VA, Crawford JL, Gómez-Gastiasoro A, Vannorsdall TD, Buchholz A, Ojeda N, Harris JC, Jinnah HA, Schretlen DJ. Microstructural white matter abnormalities in Lesch-Nyhan disease. Eur J Neurosci. 2022 Jan;55(1):264-276. doi: 10.1111/ejn.15512. Epub 2021 Dec 6.
Perlmutter JS. Bidding for a Grateful Patient. Narrat Inq Bioeth. 2022;12(1):7-9. doi: 10.1353/nib.2022.0003.
Kilic-Berkmen G, Pirio Richardson S, Perlmutter JS et al. Current Guidelines for Classifying and Diagnosing Cervical Dystonia: Empirical Evidence and Recommendations. Mov Disord Clin Pract. 2021 Dec 1;9(2):183-190. doi: 10.1002/mdc3.13376. PMID: 35146058; PMCID: PMC8810420.
Fagan M, Scorr L, Bernhardt D, Hess EJ, Perlmutter JS, Pardo CA, Jinnah HA. Neuropathology of blepharospasm. Exp Neurol. 2021 Dec;346:113855. doi: 10.1016/j.expneurol.2021.113855. Epub 2021 Aug 28. PMID: 34464652; PMCID: PMC8490317.
Sedov A, Popov V, Gamaleya A, Semenova U, Tomskiy A, Jinnah HA, Shaikh AG. Pallidal neuron activity determines responsiveness to deep brain stimulation in cervical dystonia. Clin Neurophysiol. 2021 Dec;132(12):3190-3196. doi: 10.1016/j.clinph.2021.07.032. Epub 2021 Sep 27. PMID: 34627682; PMCID: PMC9195244.
Wang M, Sajobi T, Morgante F, Adler C, Agarwal P, Bäumer T, Berardelli A, Berman BD, Blumin J, Borsche M, Brashear A, Deik A, Duque K, Espay AJ, Ferrazzano G, Feuerstein J, Fox S, Frank S, Hallett M, Jankovic J, LeDoux MS, Leegwater-Kim J, Mahajan A, Malaty IA, Ondo W, Pantelyat A, Pirio-Richardson S, Roze E, Saunders-Pullman R, Suchowersky O, Truong D, Vidailhet M, Shukla AW, Perlmutter JS, Jinnah HA, Martino D. Predictive modeling of spread in adult-onset isolated dystonia: key properties and effect of tremor inclusion. European Journal of Neurology. 2021 Dec;28(12):3999-4009. doi: 10.1111/ene.15031. Epub 2021 Aug 4. PMID: 34296504; PMCID: PMC9100858.
Parra SP, Heckers SH, Wilcox WR, Mcknight CD, Jinnah HA.. The emerging neurological spectrum of AARS2-associated disorders. Parkinsonism Relat Disord. 2021 Dec;93:50-54. doi: 10.1016/j.parkreldis.2021.10.031. Epub 2021 Nov 10.
Maiti B, Rawson KS, Tanenbaum AB, Koller JM, Snyder AZ, Campbell MC, Earhart GM, Perlmutter JS. Functional Connectivity of Vermis Correlates with Future Gait Impairments in Parkinson's Disease. Mov Disord. 2021 Nov;36(11):2559-2568. doi: 10.1002/mds.28684. Epub 2021 Jun 10.
Defazio G, Jinnah HA, Berardelli A, Perlmutter JS, Berkmen GK, Berman BD, Jankovic J, Bäumer T, Comella C, Cotton AC, Ercoli T, Ferrazzano G, Fox S, Kim HJ, Moukheiber ES, Richardson SP, Weissbach A, Wrigth LJ, Hallett M. Diagnostic criteria for blepharospasm: A multicenter international study. Parkinsonism Relat Disord. 2021 Oct;91:109-114. doi: 10.1016/j.parkreldis.2021.09.004. Epub 2021 Sep 8. PMID: 34583301.
Scorr LM, Factor FA, Parra SP et al and Jinnah HA for the Dystonia Coalition Investigators. Oromandibular Dystonia: A Clinical Examination of 2,020 Cases. Front Neurol. 2021 Sep 16;12:700714. doi: 10.3389/fneur.2021.700714. PMID: 34603182; PMCID: PMC8481678.
Myers PS, Jackson JJ, Clover AK, Lessov-Schlaggar CN, Foster ER, Maiti B, Perlmutter JS, Campbell MC. Distinct progression patterns across Parkinson disease clinical subtypes. Ann Clin Transl Neurol. 2021 Aug;8(8):1695-1708. doi: 10.1002/acn3.51436. Epub 2021 Jul 26.
Megan E Wadon, Grace A Bailey, Zehra Yilmaz, Emily Hubbard, Meshari AlSaeed, Amy Robinson, Duncan McLauchlan, Richard L Barbano, Laura Marsh, Stewart A Factor, Susan H Fox, Charles H Adler, Ramon L Rodriguez, Cynthia L Comella, Stephen G Reich, William L Severt, Christopher G Goetz, Joel S Perlmutter, Hyder A Jinnah, Katharine E Harding, Cynthia Sandor, Kathryn J Peall. Non-motor phenotypic subgroups in adult-onset idiopathic, isolated, focal cervical dystonia. Wiley Online Library. 2021 Aug;11(8):e2292. doi: 10.1002/brb3.2292. Epub 2021 Jul 21. PMID: 34291595; PMCID: PMC8413761.
Adult-onset idiopathic, isolated, focal cervical dystonia (AOIFCD) is a disorder characterized by involuntary muscle contractions that cause repetitive movements or abnormal postures. These movements can be painful and cause considerable disability. Although patients most commonly present to clinical services due to their motor symptoms, increasing evidence suggests a significant non-motor phenotype to be associated with most forms of dystonia, including AOIFCD. Improved understanding of these non-motor symptoms is needed to better target therapeutic interventions. In this study, researchers examined non-motor phenotypic features to identify possible AOIFCD subgroups. Non-motor symptoms were assessed in participants with AOIFCD, including psychiatric symptoms, pain, sleep disturbance, and quality of life. To investigate the relationship between these symptoms and determine phenotypic subgroups, researchers used Cluster and Bayesian multiple mixed model phenotype analyses. They identified two phenotypic subgroups of non-motor symptoms accompanying AOIFCD, with differences in psychiatric symptoms, pain catastrophizing, sleep quality, and quality of life. Researchers say that improved understanding of these symptom groups will enable better targeted pathophysiological investigation and future therapeutic intervention.
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Cisneros E, Vu JP, Lee HY et al. Does raising the arms modify head tremor severity in cervical dystonia?. Tremor and Other Hyperkinetic Movements. 2021 Jun 23;11:21. doi: 10.5334/tohm.623. PMID: 34221696; PMCID: PMC8231450.
Thakur N, Klopstock T, Jackowski S, Kuscer E, Tricta F, Videnovic A, Jinnah HA. Rational Design of Novel Therapies for Pantothenate Kinase-Associated Neurodegeneration. Mov Disord. 2021 Sep;36(9):2005-2016. doi: 10.1002/mds.28642. Epub 2021 May 18.
Vu JP, Lee HY, Chen Q, Cisneros E, Barbano RL, Goetz CG, Jankovic J, Jinnah HA, Perlmutter JS, Berman BD, Appelbaum MI, Stebbins GT, Comella CL, Peterson DA. Head tremor and pain in cervical dystonia. J Neurol. 2021 May;268(5):1945-1950. doi: 10.1007/s00415-020-10378-5. Epub 2021 Jan 8.
Sutcliffe DJ, Dinasarapu AR, Visser JE, Hoed JD, Seifar F, Joshi P, Ceballos-Picot I, Sardar T, Hess EJ, Sun YV, Wen Z, Zwick ME, Jinnah HA. Induced pluripotent stem cells from subjects with Lesch-Nyhan disease. Sci Rep. 2021 Apr 19;11(1):8523. doi: 10.1038/s41598-021-87955-9.
Kilic-Berkmen G, Wright LJ, Perlmutter JS, Comella C, Hallett M, Teller J, Pirio Richardson S, Peterson DA, Cruchaga C, Lungu C, Jinnah HA. The Dystonia Coalition: A Multicenter Network for Clinical and Translational Studies. Front Neurol. 2021 Apr 8;12:660909. doi: 10.3389/fneur.2021.660909. PMID: 33897610; PMCID: PMC8060489.
Sedov A, Usova S, Popov V, Tomskiy A, Jinnah HA, Shaikh AG. Feedback-dependent neuronal properties make focal dystonias so focal. Eur J Neurosci. 2021 Apr;53(7):2388-2397. doi: 10.1111/ejn.14933. Epub 2020 Aug 31.
Martin WRW, Miles M, Zhong Q, Hartlein J, Racette BA, Norris SA, Ushe M, Maiti B, Criswell S, Davis AA, Kotzbauer PT, Cairns NJ, Perrin RJ, Perlmutter JS. Is Levodopa Response a Valid Indicator of Parkinson's Disease?. Mov Disord. 2021 Apr;36(4):948-954. doi: 10.1002/mds.28406. Epub 2020 Nov 30.
Visser JE, Cotton AC, Schretlen DJ, Bloch J, Tedroff K, Schechtmann G, Radu Djurfeldt D, Gonzalez V, Cif L, Jinnah HA. Deep brain stimulation in Lesch-Nyhan disease: outcomes from the patient's perspective. Dev Med Child Neurol. 2021 Mar 10. doi: 10.1111/dmcn.14852. Online ahead of print.
Younce JR, Campbell MC, Hershey T, Tanenbaum AB, Milchenko M, Ushe M, Karimi M, Tabbal SD, Kim AE, Snyder AZ, Perlmutter JS, Norris SA. Resting-State Functional Connectivity Predicts STN DBS Clinical Response. Mov Disord. 2021 Mar;36(3):662-671. doi: 10.1002/mds.28376. Epub 2020 Nov 19.
Groth CL, Brown M, Honce JM et al. Cervical Dystonia Is Associated with Aberrant Inhibitory Signaling Within the Thalamus. Front Neurol. 2021 Feb 9;11:575879. doi: 10.3389/fneur.2020.575879. PMID: 33633655; PMCID: PMC7900407.
Junker J, Berman BD, Hall J, Wahba DW, Brandt V, Perlmutter JS, Jankovic J, Malaty IA, Wagle Shukla A, Reich SG, Espay AJ, Duque KR, Patel N, Roze E, Vidailhet M, Jinnah HA, Brüggemann N. Quality of life in isolated dystonia: non-motor manifestations matter. J Neurol Neurosurg Psychiatry. 2021 Feb 9; jnnp-2020-325193. doi: 10.1136/jnnp-2020-325193. Online ahead of print. PMCID: PMC8356023.
Shaikh AG, Beylergil SB, Scorr L, Kilic-Berkmen G, Freeman A, Klein C, Junker J, Loens S, Brüggemann N, Münchau A, Bäumer T, Vidailhet M, Roze E, Bonnet C, Jankovic J, Jimenez-Shahed J, Patel N, Marsh L, Comella C, Barbano RL, Berman BD, Malaty I, Wagle Shukla A, Reich SG, Ledoux MS, Berardelli A, Ferrazzano G, Stover N, Ondo W, Pirio Richardson S, Saunders-Pullman R, Mari Z, Agarwal P, Adler C, Chouinard S, Fox SH, Brashear A, Truong D, Suchowersky O, Frank S, Factor S, Perlmutter J, Jinnah HA. Dystonia and Tremor: A Cross-Sectional Study of the Dystonia Coalition Cohort. Neurology. 2021 Jan 26;96(4):e563-e574. doi: 10.1212/WNL.0000000000011049. Epub 2020 Oct 12.
Cisneros E, Stebbins GT, Chen Q, Vu JP, Benadof CN, Zhang Z, Barbano RL, Fox SH, Goetz CG, Jankovic J, Jinnah HA, Perlmutter JS, Adler CH, Factor SA, Reich SG, Rodriguez R, Severt LL, Stover NP, Berman BD, Comella CL, Peterson DA. It's tricky: Rating alleviating maneuvers in cervical dystonia. J Neurol Sci. 2020 Dec 15;419:117205. doi: 10.1016/j.jns.2020.117205. Epub 2020 Nov 1.
Norris SA, Jinnah HA, Klein C, Jankovic J, Berman BD, Roze E, Mahajan A, Espay AJ, Murthy AV, Fung VSC, LeDoux MS, Chang FCF, Vidailhet M, Testa C, Barbano R, Malaty IA, Bäumer T, Loens S, Wright LJ, Perlmutter JS. Clinical and Demographic Characteristics of Upper Limb Dystonia. Mov Disord. 2020 Nov;35(11):2086-2090. doi: 10.1002/mds.28223. Epub 2020 Aug 26.
Mahmood M, Kwon S, Berkmen GK, Kim YS, Scorr L, Jinnah HA, Yeo WH. Soft Nanomembrane Sensors and Flexible Hybrid Bioelectronics for Wireless Quantification of Blepharospasm. IEEE Trans Biomed Eng. 2020 Nov;67(11):3094-3100. doi: 10.1109/TBME.2020.2975773. Epub 2020 Feb 21.
Norris SA, Morris AE, Campbell MC, Karimi M, Adeyemo B, Paniello RC, Snyder AZ, Petersen SE, Mink JW, Perlmutter JS. Regional, not global, functional connectivity contributes to isolated focal dystonia. Neurology. 2020 Oct 20;95(16):e2246-e2258. doi: 10.1212/WNL.0000000000010791. Epub 2020 Sep 10.
Laura LO Froeschke. The Influence of Linguistic Demand on Symptom Expression in Adductor Spasmodic Dysphonia. Journal of Voice. 2020 Sep;34(5):807.e11-807.e21. doi: 10.1016/j.jvoice.2019.04.003. Epub 2019 Apr 30. PMID: 31047737.
Sedov A, Usova S, Semenova U, Gamaleya A, Tomskiy A, Beylergil SB, Jinnah HA, Shaikh AG. Pallidal Activity in Cervical Dystonia with and Without Head Tremor. Cerebellum. 2020 Jun;19(3):409-418. doi: 10.1007/s12311-020-01119-5.
Jinnah HA. Medical and Surgical Treatments for Dystonia. Neurol Clin. 2020 May;38(2):325-348. doi: 10.1016/j.ncl.2020.01.003. Epub 2020 Mar 2.
Berman BD, Groth CL, Shelton E, Sillau SH, Sutton B, Legget KT, Tregellas JR. Hemodynamic responses are abnormal in isolated cervical dystonia. J Neurosci Res. 2020 Apr;98(4):692-703. doi: 10.1002/jnr.24547. Epub 2019 Nov 6.
Berman BD, Groth CL, Sillau SH, Pirio Richardson S, Norris SA, Junker J, Brüggemann N, Agarwal P, Barbano RL, Espay AJ, Vizcarra JA, Klein C, Bäumer T, Loens S, Reich SG, Vidailhet M, Bonnet C, Roze E, Jinnah HA, Perlmutter JS. Risk of spread in adult-onset isolated focal dystonia: a prospective international cohort study. J Neurol Neurosurg Psychiatry. 2020 Mar;91(3):314-320. doi: 10.1136/jnnp-2019-321794. Epub 2019 Dec 17.
Chen Q, Vu JP, Cisneros E, Benadof CN, Zhang Z, Barbano RL, Goetz CG, Jankovic J, Jinnah HA, Perlmutter JS, Appelbaum MI, Stebbins GT, Comella CL, Peterson DA. Postural Directionality and Head Tremor in Cervical Dystonia. Tremor Other Hyperkinet Mov (N Y). 2020 Jan 20;10. doi: 10.7916/tohm.v0.745. eCollection 2020.
Liu C, Scorr L, Kilic-Berkmen G, Cotton A, Factor SA, Freeman A, Tran V, Liu K, Uppal K, Jones D, Jinnah HA, Sun YV. A metabolomic study of cervical dystonia. Parkinsonism Relat Disord. 2021 Jan;82:98-103. doi: 10.1016/j.parkreldis.2020.11.020. Epub 2020 Nov 26. PMID: 33271463; PMCID: PMC7856090.
Fernandez HH, Stamler D, Davis MD, Factor SA, Hauser RA, Jimenez-Shahed J, Ondo WG, Jarskog LF, Woods SW, Bega D, LeDoux MS, Shprecher DR, Anderson KE. Long-term safety and efficacy of deutetrabenazine for the treatment of tardive dyskinesia. J Neurol Neurosurg Psychiatry. 2019 Dec;90(12):1317-1323. doi: 10.1136/jnnp-2018-319918. Epub 2019 Jul 10.
Kwon YT, Lee Y, Berkmen GK, Lim HR, Scorr L, Jinnah HA, Yeo WH. Soft Material-Enabled, Active Wireless, Thin-Film Bioelectronics for Quantitative Diagnostics of Cervical Dystonia. Adv Mater Technol. 2019 Oct;4(10):1900458. doi: 10.1002/admt.201900458. Epub 2019 Aug 16.
Beylergil SB, Singh AP, Zee DS, Jinnah HA, Shaikh AG. Relationship between jerky and sinusoidal oscillations in cervical dystonia. Parkinsonism Relat Disord. 2019 Sep;66:130-137. doi: 10.1016/j.parkreldis.2019.07.024. Epub 2019 Jul 20.
Mencacci NE and Jinnah HA. Naming Genes for Dystonia: DYT-z or Ditzy?. Tremor Other Hyperkinet Mov. 2019 Aug 28;9. doi: 10.7916/tohm.v0.710. PMID: 31523486; PMCID: PMC6714488.
Kim CY, Petersen MS, Eliasen EH et al. Involuntary Thumb Flexion on Neurological Examination: An Unusual Form of Upper Limb Dystonia in the Faroe Islands. Tremor Other Hyperkinet Mov. 2019 Aug 20;9. doi: 10.7916/tohm.v0.686. PMID: 31440418; PMCID: PMC6702791.
Merola A, Dwivedi AK, Shaikh AG, Tareen TK, Da Prat GA, Kauffman MA, Hampf J, Mahajan A, Marsili L, Jankovic J, Comella CL, Berman BD, Perlmutter JS, Jinnah HA, Espay AJ. Head tremor at disease onset: an ataxic phenotype of cervical dystonia. J Neurol. 2019 Aug;266(8):1844-1851. doi: 10.1007/s00415-019-09341-w. Epub 2019 Apr 26.
Jinnah HA. The Dystonias. Continuum (Minneap Minn). 2019 Aug;25(4):976-1000. doi: 10.1212/CON.0000000000000747.
Marshall RD, Collins A, Escolar ML, Jinnah HA, Klopstock T, Kruer MC, Videnovic A, Robichaux-Viehoever A, Burns C, Swett LL, Revicki DA, Bender RH, Lenderking WR.. Diagnostic and clinical experience of patients with pantothenate kinase-associated neurodegeneration. Orphanet J Rare Dis. 2019 Jul 12;14(1):174. doi: 10.1186/s13023-019-1142-1.
Benadof CN, Cisneros E, Appelbaum MI, Stebbins GT, Comella CL, Peterson DA. Sensory Tricks Are Associated with Higher Sleep-Related Quality of Life in Cervical Dystonia. Tremor Other Hyperkinet Mov (N Y). 2019 Jun 17;9. doi: 10.7916/4q53-vt23. eCollection 2019.
Tang SY, Shaikh AG. Past and Present of Eye Movement Abnormalities in Ataxia-Telangiectasia. Cerebellum. 2019 Jun;18(3):556-564. doi: 10.1007/s12311-018-0990-x.
Corp DT, Joutsa J, Darby RR, Delnooz CCS, van de Warrenburg BPC, Cooke D, Prudente CN, Ren J, Reich MM, Batla A, Bhatia KP, Jinnah HA, Liu H, Fox MD. Network localization of cervical dystonia based on causal brain lesions. Brain. 2019 Jun 1;142(6):1660-1674. doi: 10.1093/brain/awz112.
Sedov A, Usova S, Semenova U, Gamaleya A, Tomskiy A, Crawford JD, Corneil B, Jinnah HA, Shaikh AG. The role of pallidum in the neural integrator model of cervical dystonia. Neurobiol Dis. 2019 May;125:45-54. doi: 10.1016/j.nbd.2019.01.011. Epub 2019 Jan 22.
Sedov A, Semenova U, Usova S et al. Implications of asymmetric neural activity patterns in the basal ganglia outflow in the integrative neural network model for cervical dystonia. Prog Brain Res. 2019;249:261-268. doi: 10.1016/bs.pbr.2019.03.030. Epub 2019 Apr 30. PMID: 31325985.
Feldman D, Otero-Millan J, Shaikh AG. Gravity-Independent Upbeat Nystagmus in Syndrome of Anti-GAD Antibodies. Cerebellum. 2019 Apr;18(2):287-290. doi: 10.1007/s12311-018-0972-z.
Witek N, Hebert C, Gera A, Comella C. Progressive Encephalomyelitis with Rigidity and Myoclonus Syndrome Presenting as Catatonia. Psychosomatics. 2019 Jan-Feb;60(1):83-87. doi: 10.1016/j.psym.2018.05.005. Epub 2018 May 17. PMID: 30143326.
Pyatka N, Sedov A, Walter BL et al. Tremor in chronic inflammatory demyelinating polyneuropathy: Proof of unifying network model for dystonia. Prog Brain Res. 2019; 249: 285-294. PMCID: In progress.
Wagle Shukla A, Ostrem JL, Vaillancourt DE et al. Physiological effects of subthalamic nucleus deep brain stimulation surgery in cervical dystonia. J Neurol Neurosurg Psychiatry. 2018 Dec;89(12):1296-1300. doi: 10.1136/jnnp-2017-317098. Epub 2018 Jan 11. PMID: 29326293; PMCID: PMC7498178.
Junker J, Brandt V, BD B, Vidailhet M et al. Predictors of alcohol responsiveness in dystonia. Neurology . 2018 Nov 20;91(21):e2020-e2026. doi: 10.1212/WNL.0000000000006551. Epub 2018 Oct 19. PMID: 30341158; PMCID: PMC6260199.
Ludlow CL, Domangue R, Sharma D, Jinnah HA, Perlmutter JS, Berke G, Sapienza C, Smith ME, Blumin JH, Kalata CE, Blindauer K, Johns M, Hapner E, Harmon A, Paniello R, Adler CH, Crujido L, Lott DG, Bansberg SF, Barone N, Drulia T, Stebbins G. Consensus-Based Attributes for Identifying Patients With Spasmodic Dysphonia and Other Voice Disorders. JAMA Otolaryngol Head Neck Surg. 2018 Aug 1;144(8):657-665. doi: 10.1001/jamaoto.2018.0644.
George EB, Cotton AC, Shneyder N, Jinnah HA. A strategy for managing flu-like symptoms after botulinum toxin injections. J Neurol. 2018 Aug;265(8):1932-1933. doi: 10.1007/s00415-018-8934-4. Epub 2018 Jun 20.
Rizvi MT, Cameron L, Kilbane C, Shaikh AG. Paraneoplastic seesaw nystagmus and opsoclonus provides evidence for hyperexcitable reciprocally innervating mesencephalic network. J Neurol Sci. 2018 Jul 15;390:239-245. doi: 10.1016/j.jns.2018.05.002. Epub 2018 May 3.
Espay AJ, Trosch R, Suarez G et al. Minimal clinically important change in the Toronto Western Spasmodic Torticollis Rating Scale. Parkinsonism Relat Disord. 2018 Jul;52:94-97. doi: 10.1016/j.parkreldis.2018.03.002. Epub 2018 Mar 7. PMID: 29530726.
Shaikh AG, Antoniades C, Fitzgerald J et al. Effects of deep brain stimulation on eye movements and vestibular function. Front Neurol. 2018 Jun 12;9:444. doi: 10.3389/fneur.2018.00444. PMID: 29946295; PMCID: PMC6005881.
Jinnah HA, Comella CL, Perlmutter J, Lungu C, Hallett M; Dystonia Coalition Investigators. Longitudinal studies of botulinum toxin in cervical dystonia: Why do patients discontinue therapy?. Toxicon. 2018 Jun 1;147:89-95. doi: 10.1016/j.toxicon.2017.09.004. Epub 2017 Sep 6.
Shaikh AG, Zee DS. Eye movement research in the twenty-first century-a window to the brain, mind, and more. Cerebellum. 2018 Jun;17(3):252-258. doi: 10.1007/s12311-017-0910-5. PMID: 29260439.
Norris SA, Perlmutter JS. Functional imaging in dystonia. In Treatment of Dystonia, ed Dressler, Altenmuller, & Krauss, Cambridge University Press, Cambridge, UK. June 2018, ISBN: 9781107132863. [Chapter]
Liu H, Jin H, Luo Z, Yue X, Zhang X, Flores H, Su Y, Perlmutter JS, Tu Z. In Vivo Characterization of Two (18)F-Labeled PDE10A PET Radioligands in Nonhuman Primate Brains. ACS Chem Neurosci. 2018 May 16;9(5):1066-1073. doi: 10.1021/acschemneuro.7b00458. Epub 2018 Feb 19.
Mahajan A, Jankovic J, Marsh L, Patel A, Jinnah HA, Comella C, Barbano R, Perlmutter J, Patel N; members of the Dystonia Coalition. Cervical dystonia and substance abuse. J Neurol. 2018 Apr;265(4):970-975. doi: 10.1007/s00415-018-8840-9. Epub 2018 Mar 22.
Scorr LM, Silver MR, Hanfelt J, Sperin E, Freeman A, Jinnah HA, Factor SA. Pilot Single-Blind Trial of AbobotulinumtoxinA in Oromandibular Dystonia. Neurotherapeutics. 2018 Apr;15(2):452-458. doi: 10.1007/s13311-018-0620-9.
Shi LL, Simpson CB, Hapner ER, Jinnah HA, Johns MM 3rd. Pharyngeal Dystonia Mimicking Spasmodic Dysphonia. J Voice. 2018 Mar;32(2):234-238. doi: 10.1016/j.jvoice.2017.05.004. Epub 2017 Jun 23.
Morris AE, Norris SA, Perlmutter JS, Mink JW. Quantitative, clinically relevant acoustic measurements of focal embouchure dystonia. Mov Disord. 2018 Mar;33(3):449-458. doi: 10.1002/mds.27298. Epub 2018 Feb 20.
Popa T, Hubsch C, James P et al. Abnormal cerebellar processing of the neck proprioceptive information drives dysfunctions in cervical dystonia. Nat Sci Rep. 2018 Feb 2;8(1):2263. doi: 10.1038/s41598-018-20510-1. PMID: 29396401; PMCID: PMC5797249.
Espay AJ, Maloney T, Vannest J et al. Dysfunction in emotion processing underlies functional (psychogenic) dystonia. Mov Disord. 2018 Jan;33(1):136-145. doi: 10.1002/mds.27217. Epub 2017 Nov 10. PMID: 29124784; PMCID: PMC5767134.
Jinnah HA, Hess EJ. Evolving concepts in the pathogenesis of dystonia. Parkinsonism Relat Disord. 2018 Jan;46 Suppl 1(Suppl 1):S62-S65. doi: 10.1016/j.parkreldis.2017.08.001. Epub 2017 Aug 2.
Jinnah HA, Albanese A, Bhatia KP, Cardoso F, Da Prat G, de Koning TJ, Espay AJ, Fung V, Garcia-Ruiz PJ, Gershanik O, Jankovic J, Kaji R, Kotschet K, Marras C, Miyasaki JM, Morgante F, Munchau A, Pal PK, Rodriguez Oroz MC, Rodríguez-Violante M, Schöls L, Stamelou M, Tijssen M, Uribe Roca C, de la Cerda A, Gatto EM; International Parkinson's Disease Movement Disorders Society Task Force on Rare Movement Disorders. Treatable inherited rare movement disorders. Mov Disord. 2018 Jan;33(1):21-35. doi: 10.1002/mds.27140. Epub 2017 Sep 1.
Cotton AC, Bell RB, Jinnah HA. Expert Opinion vs Patient Perspective in Treatment of Rare Disorders: Tooth Removal in Lesch-Nyhan Disease as an Example. JIMD Rep. 2018;41:25-27. doi: 10.1007/8904_2017_80. Epub 2017 Dec 15. PMID: 29243037; PMCID: PMC6122048.
Jinnah HA, Hess EJ. The motor network model for dystonia. In Treatment of dystonia: Cambridge University Press, 1st ED. 2018. [Book chapter]
Kang SL, Shaikh AG, Ghasia FF. Vergence and strabismus in neurodegenerative disorders. Front Neurol. 2018; 9: 299. PMCID: PMC5964131.
Puri S, Shaikh AG. Basic and translational neuro-ophthalmology of visually guided saccades: disorders of velocity. Expert Rev Ophthalmol. 2017;12(6):457-473. doi: 10.1080/17469899.2017.1395695. Epub 2017 Nov 28.
Shaikh AG, Finkelstein SR, Schuchard R, Ross G, Juncos JL. Fixational eye movements in Tourette syndrome. Neurol Sci. 2017 Nov;38(11):1977-1984. doi: 10.1007/s10072-017-3069-4. Epub 2017 Aug 16.
Jinnah HA, Neychev V, Hess EJ. The anatomical basis for dystonia: The motor network model. Tremor Other Hyperkinet Mov (N Y). 2017 Oct 23;7:506. doi: 10.7916/D8V69X3S. PMID: 29123945; PMCID: PMC5673689.
Alsinaidi O, Shaikh AG. Diffusion-Weighted Magnetic Resonance Imaging in Acute Retinal Pathology. Neuroophthalmology. 2017 Oct 13;42(3):191-193. doi: 10.1080/01658107.2017.1354385. eCollection 2018 Jun.
Conte A, Ferrazzano G, Defazio G et al. Increased blinking may be a precursor of blepharospasm: a longitudinal study. Mov Disord Clin Pract. 2017 Sep-Oct;4(5):733-736. doi: 10.1002/mdc3.12499. Epub 2017 Jun 2. PMID: 29082270; PMCID: PMC5654574.
Shaikh AG, Factor SA, Juncos J. Saccades in progressive supranuclear palsy - maladapted, irregular, curved, and slow. Mov Disord Clin Pract. 2017 Sep-Oct;4(5):671-681. doi: 10.1002/mdc3.12491. Epub 2017 Aug 11.
Li Z, Prudente CN, Stilla R, Sathian K, Jinnah HA, Hu X. Alterations of resting-state fMRI measurements in individuals with cervical dystonia. Hum Brain Mapp. 2017 Aug;38(8):4098-4108. doi: 10.1002/hbm.23651. Epub 2017 May 15.
Shaikh AG, Ghasia FF. Novel Eye Movement Disorders in Whipple's Disease-Staircase Horizontal Saccades, Gaze-Evoked Nystagmus, and Esotropia. Front Neurol. 2017 Jul 11;8:321. doi: 10.3389/fneur.2017.00321. eCollection 2017.
Berman BD, Junker J, Shelton E, Sillau SH, Jinnah HA, Perlmutter JS, Espay AJ, Jankovic J, Vidailhet M, Bonnet C, Ondo W, Malaty IA, Rodríguez R, McDonald WM, Marsh L, Zurowski M, Bäumer T, Brüggemann N. Psychiatric associations of adult-onset focal dystonia phenotypes. J Neurol Neurosurg Psychiatry. 2017 Jul;88(7):595-602. doi: 10.1136/jnnp-2016-315461. Epub 2017 Apr 24.
Shaikh AG, Straumann D, Palla A. Motion Illusion-Evidence towards Human Vestibulo-Thalamic Projections. Cerebellum. 2017 Jun;16(3):656-663. doi: 10.1007/s12311-017-0844-y.
Sedov A, Popov V, Shabalov V, Raeva S, Jinnah HA, Shaikh AG. Physiology of midbrain head movement neurons in cervical dystonia. Mov Disord. 2017 Jun;32(6):904-912. doi: 10.1002/mds.26948. Epub 2017 Feb 20.
Pirio Richardson S, Altenmüller E, Alter K, Alterman RL, Chen R, Frucht S, Furuya S, Jankovic J, Jinnah HA, Kimberley TJ, Lungu C, Perlmutter JS, Prudente CN, Hallett M. Research Priorities in Limb and Task-Specific Dystonias. Front Neurol. 2017 May 3;8:170. doi: 10.3389/fneur.2017.00170. eCollection 2017.
Kang S, Shaikh AG. Acquired pendular nystagmus. J Neurol Sci. 2017 Apr 15;375:8-17. doi: 10.1016/j.jns.2017.01.033. Epub 2017 Jan 10.
Shaikh AG, Ghasia FF. Fixational saccades are more disconjugate in adults than in children. PLoS One. 2017 Apr 13;12(4):e0175295. doi: 10.1371/journal.pone.0175295. eCollection 2017.
Defazio G, Hallett M, Jinnah HA, Conte A, Berardelli A. Blepharospasm 40 years later. Mov Disord. 2017 Apr;32(4):498-509. doi: 10.1002/mds.26934. Epub 2017 Feb 10.
Shakkottai VG, Batla A, Bhatia K, Dauer WT, Dresel C, Niethammer M, Eidelberg D, Raike RS, Smith Y, Jinnah HA, Hess EJ, Meunier S, Hallett M, Fremont R, Khodakhah K, LeDoux MS, Popa T, Gallea C, Lehericy S, Bostan AC, Strick PL. Current Opinions and Areas of Consensus on the Role of the Cerebellum in Dystonia. Cerebellum. 2017 Apr;16(2):577-594. doi: 10.1007/s12311-016-0825-6.
Jinnah HA, Alterman R, Klein C, Krauss JK, Moro E, Vidailhet M, Raike R. Deep brain stimulation for dystonia: a novel perspective on the value of genetic testing. J Neural Transm (Vienna). 2017 Apr;124(4):417-430. doi: 10.1007/s00702-016-1656-9. Epub 2017 Feb 3.
Nibbeling EA, Delnooz CC, de Koning TJ, Sinke RJ, Jinnah HA, Tijssen MA, Verbeek DS. Using the shared genetics of dystonia and ataxia to unravel their pathogenesis. Neurosci Biobehav Rev. 2017 Apr;75:22-39. doi: 10.1016/j.neubiorev.2017.01.033. Epub 2017 Jan 28.
Peterson DA, Sejnowski TJ. A Dynamic circuit hypothesis for the pathogenesis of blepharospasm. Front Comput Neurosci. 2017 Mar 7;11:11. doi: 10.3389/fncom.2017.00011. PMID: 28326032; PMCID: PMC5340098.
Pirio Richardson S, Wegele A, Skipper B et al. Dystonia treatment: patterns of medication use in an international cohort. Neurology. 2017 Feb 7;88(6):543-550. doi: 10.1212/WNL.0000000000003596. Epub 2017 Jan 11. PMID: 28077492; PMCID: PMC5304465.
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Norris SA, Jinnah HA, Espay AJ, Klein C, Brüggemann N, Barbano RL, Malaty IA, Rodriguez RL, Vidailhet M, Roze E, Reich SG, Berman BD, LeDoux MS, Richardson SP, Agarwal P, Mari Z, Ondo WG, Shih LC, Fox SH, Berardelli A, Testa CM, Cheng FC, Truong D, Nahab FB, Xie T, Hallett M, Rosen AR, Wright LJ, Perlmutter JS. Clinical and demographic characteristics related to onset site and spread of cervical dystonia. Mov Disord. 2016 Dec;31(12):1874-1882. doi: 10.1002/mds.26817. Epub 2016 Oct 18.
Paudel R, Li A, Hardy J, Bhatia KP, Houlden H, Holton J. DYT6 Dystonia: A Neuropathological Study. Neurodegener Dis. 2016;16(3-4):273-8. doi: 10.1159/000440863. Epub 2015 Nov 27.
Peterson DA, Littlewort GC, Bartlett MS, Macerollo A, Perlmutter JS, Jinnah HA, Hallett M, Sejnowski TJ. Objective, computerized video-based rating of blepharospasm severity. Neurology. 2016 Nov 15;87(20):2146-2153. doi: 10.1212/WNL.0000000000003336. Epub 2016 Oct 21. PMID: 27770067; PMCID: PMC5109937.
Albanese A, Bhatia K, DeLong MR, Fahn S, Fung VS, Hallett M, Jankovic J, Jinnah HA, Mink JW, Teller JK. "Complex" dystonia is not a category in the new 2013 consensus classification. Mov Disord. 2016 Nov;31(11):1758-1759. doi: 10.1002/mds.26764. Epub 2016 Sep 10.
Bologna M, Paparella G, Fabbrini A, Leodori G, Rocchi L, Hallett M, Berardelli A. Effects of cerebellar theta-burst stimulation on arm and neck movement kinematics in patients with focal dystonia. Clin Neurophysiol. 2016 Nov;127(11):3472-3479. doi: 10.1016/j.clinph.2016.09.008. Epub 2016 Sep 15.
Jinnah HA. Locus Pocus. Mov Disord. 2016 Nov;31(11):1759-1760. doi: 10.1002/mds.26765. Epub 2016 Aug 22.
Shaikh AG, Zee DS, Crawford JD, Jinnah HA. Cervical dystonia: a neural integrator disorder. Brain. 2016 Oct;139(Pt 10):2590-2599. doi: 10.1093/brain/aww141. Epub 2016 Jun 20.
Jinnah HA, Factor S. The role of polymyography in the treatment of cervical dystonia: the authors reply. J Neurol. 2016 Aug;263(8):1665. doi: 10.1007/s00415-016-8222-0. Epub 2016 Jul 8.
Arkadir D, Radulescu A, Raymond D et al. DYT1 dystonia increases risk taking in humans. eLife. 2016 Jun 1;5:e14155. doi: 10.7554/eLife.14155. PMID: 27249418; PMCID: PMC4951192.
Jinnah HA, Goodmann E, Rosen AR, Evatt M, Freeman A, Factor S. Botulinum toxin treatment failures in cervical dystonia: causes, management, and outcomes. J Neurol. 2016 Jun;263(6):1188-94. doi: 10.1007/s00415-016-8136-x. Epub 2016 Apr 25.
Merkel PA, Manion M, Gopal-Srivastava R, Groft S, Jinnah HA, Robertson D, Krischer JP; Rare Diseases Clinical Research Network. The partnership of patient advocacy groups and clinical investigators in the rare diseases clinical research network. Orphanet J Rare Dis. 2016 May 18;11(1):66. doi: 10.1186/s13023-016-0445-8.
LeDoux MS, Vemula SR, Xiao J, Thompson MM, Perlmutter JS, Wright LJ, Jinnah HA, Rosen AR, Hedera P, Comella CL, Weissbach A, Junker J, Jankovic J, Barbano RL, Reich SG, Rodriguez RL, Berman BD, Chouinard S, Severt L, Agarwal P, Stover NP. Clinical and genetic features of cervical dystonia in a large multicenter cohort. Neurol Genet. 2016 Apr 11;2(3):e69. doi: 10.1212/NXG.0000000000000069. eCollection 2016 Jun.
Bäumer T, Schmidt A, Heldmann M, Landwehr M, Simmer A, Tönniges D, Münte T, Lohmann K, Altenmüller E, Klein C, Münchau A. Abnormal interhemispheric inhibition in musician's dystonia - Trait or state?. Parkinsonism Relat Disord. 2016 Apr;25:33-8. doi: 10.1016/j.parkreldis.2016.02.018. Epub 2016 Feb 20.
Comella CL, Perlmutter JS, Jinnah HA, Waliczek TA, Rosen AR, Galpern WR, Adler CA, Barbano RL, Factor SA, Goetz CG, Jankovic J, Reich SG, Rodriguez RL, Severt WL, Zurowski M, Fox SH, Stebbins GT. Clinimetric testing of the comprehensive cervical dystonia rating scale. Mov Disord. 2016 Apr;31(4):563-9. doi: 10.1002/mds.26534. Epub 2016 Mar 12.
Xiao J, Thompson MM, Vemula SR et al. Blepharospasm in a multiplex African-American pedigree. J Neurol Sci. 2016 Mar 15;362:299-303. doi: 10.1016/j.jns.2016.02.003. Epub 2016 Feb 2. PMID: 26944167; PMCID: PMC4779500.
Fraint A, Vittal P, Comella C. Considerations on patient-related outcomes with the use of botulinum toxins: is switching products safe?. Ther Clin Risk Manag. 2016 Feb 5;12:147-54. doi: 10.2147/TCRM.S99239. PMID: 26917963; PMCID: PMC4751901.
Justicz N, Hapner ER, Josephs JS, Boone BC, Jinnah HA, Johns MM 3rd. Comparative effectiveness of propranolol and botulinum for the treatment of essential voice tremor. Laryngoscope. 2016 Jan;126(1):113-7. doi: 10.1002/lary.25485. Epub 2015 Jul 21.
Shaikh AG, Ghasia FF, DeLong MR, Jinnah HA, Freeman A, Factor SA. Ocular palatal tremor plus dystonia - new syndromic association. Mov Disord Clin Pract. 2015 Sep 1;2(3):267-270. doi: 10.1002/mdc3.12193. Epub 2015 Jun 17.
Creighton FX, Hapner E, Klein A, Rosen A, Jinnah HA, Johns MM. Diagnostic Delays in Spasmodic Dysphonia: A Call for Clinician Education. J Voice. 2015 Sep;29(5):592-4. doi: 10.1016/j.jvoice.2013.10.022. Epub 2015 Apr 11.
Ludlow CL. Central Nervous System Control of Voice and Swallowing. J Clin Neurophysiol. 2015 Aug;32(4):294-303. doi: 10.1097/WNP.0000000000000186.
Ludlow CL. Laryngeal Reflexes: Physiology, Technique, and Clinical Use. J Clin Neurophysiol. 2015 Aug;32(4):284-93. doi: 10.1097/WNP.0000000000000187.
Jinnah HA, Teller JK, Galpern WR. Recent developments in dystonia. Curr Opin Neurol. 2015 Aug;28(4):400-5. doi: 10.1097/WCO.0000000000000213.
Kimberley TJ, Schmidt RL, Chen M et al. Mixed effectiveness of rTMS and retraining in the treatment of focal hand dystonia. Front Hum Neurosci. 2015 Jul 9;9:385. doi: 10.3389/fnhum.2015.00385. PMID: 26217209; PMCID: PMC4496570.
Prudente CN, Stilla R, Buetefisch CM, Singh S, Hess EJ, Hu X, Sathian K, Jinnah HA. Neural Substrates for Head Movements in Humans: A Functional Magnetic Resonance Imaging Study. J Neurosci. 2015 Jun 17;35(24):9163-72. doi: 10.1523/JNEUROSCI.0851-15.2015.
Comella CL, Fox SH, Bhatia KP, Perlmutter JS, Jinnah HA, Zurowski M, McDonald WM, Marsh L, Rosen AR, Waliczek T, Wright LJ, Galpern WR, Stebbins GT. Development of the Comprehensive Cervical Dystonia Rating Scale: Methodology. Mov Disord Clin Pract. 2015 Jun;2(2):135-141. doi: 10.1002/mdc3.12131. Epub 2015 Apr 6.
Berman BD, Jinnah HA. Dystonia: Five new things. Neurol Clin Pract. 2015 Jun;5(3):232-240. doi: 10.1212/CPJ.0000000000000128.
Shaikh AG, Wong A, Zee DS, Jinnah HA. Why are voluntary head movements in cervical dystonia slow?. Parkinsonism Relat Disord. 2015 Jun;21(6):561-6. doi: 10.1016/j.parkreldis.2015.03.005. Epub 2015 Mar 14.
Shaikh AG, Zee DS, Jinnah HA. Oscillatory head movements in cervical dystonia: Dystonia, tremor, or both?. Mov Disord. 2015 May;30(6):834-42. doi: 10.1002/mds.26231. Epub 2015 Apr 16.
Pirio Richardson S, Tinaz S, Chen R. Repetitive transcranial magnetic stimulation in cervical dystonia: effect of site and repetition in a randomized pilot trial. PLoS One. 2015 Apr 29;10(4):e0124937. doi: 10.1371/journal.pone.0124937. PMID: 25923718; PMCID: PMC4414555.
Defazio G, Hallett M, Jinnah HA, Stebbins GT, Gigante AF, Ferrazzano G, Conte A, Fabbrini G, Berardelli A. Development and validation of a clinical scale for rating the severity of blepharospasm. Mov Disord. 2015 Apr;30(4):525-30. doi: 10.1002/mds.26156.
Yan L, Hicks M, Winslow K, Comella C, Ludlow C, Jinnah HA, Rosen AR, Wright L, Galpern WR, Perlmutter JS. Secured web-based video repository for multicenter studies. Parkinsonism Relat Disord. 2015 Apr;21(4):366-71. doi: 10.1016/j.parkreldis.2015.01.011. Epub 2015 Jan 20.
Brüggemann N, Kühn A, Schneider SA, Kamm C, Wolters A, Krause P, Moro E, Steigerwald F, Wittstock M, Tronnier V, Lozano AM, Hamani C, Poon YY, Zittel S, Wächter T, Deuschl G, Krüger R, Kupsch A, Münchau A, Lohmann K, Volkmann J, Klein C. Short- and long-term outcome of chronic pallidal neurostimulation in monogenic isolated dystonia. Neurology. 2015 Mar 3;84(9):895-903. doi: 10.1212/WNL.0000000000001312. Epub 2015 Feb 4.
Schottlaender LV, Polke JM, Ling H, MacDoanld ND, Tucci A, Nanji T, Pittman A, de Silva R, Holton JL, Revesz T, Sweeney MG, Singleton AB, Lees AJ, Bhatia KP, Houlden H. Analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism. Neurobiol Aging. 2015 Feb;36(2):1221.e1-6. doi: 10.1016/j.neurobiolaging.2014.08.024. Epub 2014 Aug 27.
Jinnah HA, Factor SA. Diagnosis and treatment of dystonia. Neurol Clin. 2015 Feb;33(1):77-100. doi: 10.1016/j.ncl.2014.09.002.
Shaikh AG, Mewes K, DeLong MR, Gross RE, Triche SD, Jinnah HA, Boulis N, Willie JT, Freeman A, Alexander GE, Aia P, Butefisch CM, Esper CD, Factor SA. Temporal profile of improvement of tardive dystonia after globus pallidus deep brain stimulation. Parkinsonism Relat Disord. 2015 Feb;21(2):116-9. doi: 10.1016/j.parkreldis.2014.11.013. Epub 2014 Nov 20.
Tanner CM, Comella CL. When brawn benefits brain: physical activity and Parkinson's disease risk. Brain. 2015 Feb;138(Pt 2):238-9. doi: 10.1093/brain/awu351.
Karimi M, Perlmutter JS. The role of dopamine and dopaminergic pathways in dystonia: insights from neuroimaging. Tremor Other Hyperkinet Mov (N Y). 2015 Jan 29;5:280. doi: 10.7916/D8J101XV. eCollection 2015.
Jinnah HA, Prudente CN, Rose SJ et al. The neurobiology of dystonia. In Neurobiology of Disease, 2nd Ed. 2015. [Chapter]
Jinnah HA, Albanese A. The New Classification System for the Dystonias: Why Was it Needed and How was it Developed?. Mov Disord Clin Pract. 2014 Dec 1;1(4):280-284. doi: 10.1002/mdc3.12100.
Perlmutter JS, Norris SA. Neuroimaging biomarkers for Parkinson disease: facts and fantasy. Ann Neurol. 2014 Dec;76(6):769-83. doi: 10.1002/ana.24291. Epub 2014 Nov 7.
Luciano AY, Jinnah HA, Pfeiffer RF, Truong DD, Nance MA, LeDoux MS. Treatment of myoclonus-dystonia syndrome with tetrabenazine. Parkinsonism Relat Disord. 2014 Dec;20(12):1423-6. doi: 10.1016/j.parkreldis.2014.09.029. Epub 2014 Oct 5.
Paudel R, Kiely A, Li A, Lashley T, Bandopadhyay R, Hardy J, Jinnah HA, Bhatia K, Houlden H, Holton JL. Neuropathological features of genetically confirmed DYT1 dystonia: investigating disease-specific inclusions. Acta Neuropathol Commun. 2014 Nov 18;2:159. doi: 10.1186/s40478-014-0159-x.
Shaikh AG, Mewes K, Jinnah HA, DeLong MR, Gross RE, Triche S, Freeman A, Factor SA. Globus pallidus deep brain stimulation for adult-onset axial dystonia. Parkinsonism Relat Disord. 2014 Nov;20(11):1279-82. doi: 10.1016/j.parkreldis.2014.09.005. Epub 2014 Sep 16.
Hershey LA, Perlmutter JS. Smoking and Parkinson disease: where there is smoke there may not be fire. Neurology. 2014 Oct 14;83(16):1392-3. doi: 10.1212/WNL.0000000000000896. Epub 2014 Sep 12.
Patel N, Hanfelt J, Marsh L, Jankovic J; members of the Dystonia Coalition. Alleviating manoeuvres (sensory tricks) in cervical dystonia. J Neurol Neurosurg Psychiatry. 2014 Aug;85(8):882-4. doi: 10.1136/jnnp-2013-307316. Epub 2014 May 14.
Broccard FD, Mullen T, Chi YM, Peterson D, Iversen JR, Arnold M, Kreutz-Delgado K, Jung TP, Makeig S, Poizner H, Sejnowski T, Cauwenberghs G. Closed-loop brain-machine-body interfaces for noninvasive rehabilitation of movement disorders. Ann Biomed Eng. 2014 Aug;42(8):1573-93. doi: 10.1007/s10439-014-1032-6. Epub 2014 May 15.
Xiao J, Vemula SR, LeDoux MS. Recent advances in the genetics of dystonia. Curr Neurol Neurosci Rep. 2014 Aug;14(8):462. doi: 10.1007/s11910-014-0462-8.
Göttle M, Prudente CN, Fu R, Sutcliffe D, Pang H, Cooper D, Veledar E, Glass JD, Gearing M, Visser JE, Jinnah HA. Loss of dopamine phenotype among midbrain neurons in Lesch-Nyhan disease. Ann Neurol. 2014 Jul;76(1):95-107. doi: 10.1002/ana.24191. Epub 2014 Jun 20.
Revuelta GJ, Montilla J, Benatar M, Freeman A, Wichmann T, Jinnah HA, Delong MR, Factor SA. An ¹⁸F-FDG PET study of cervical muscle in parkinsonian anterocollis. J Neurol Sci. 2014 May 15;340(1-2):174-7. doi: 10.1016/j.jns.2014.03.023. Epub 2014 Mar 18.
Vemula SR, Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Paniello RC, Wszolek ZK, Uitti RJ, Van Gerpen JA, Hedera P, Truong DD, Blitzer A, Rudzińska M, Momčilović D, Jinnah HA, Frei K, Pfeiffer RF, LeDoux MS. A rare sequence variant in intron 1 of THAP1 is associated with primary dystonia. Mol Genet Genomic Med. 2014 May;2(3):261-72. doi: 10.1002/mgg3.67. Epub 2014 Feb 11.
Vemula SR, Xiao J, Bastian RW, Momčilović D, Blitzer A, LeDoux MS. Pathogenic variants in TUBB4A are not found in primary dystonia. Neurology. 2014 Apr 8;82(14):1227-30. doi: 10.1212/WNL.0000000000000294. Epub 2014 Mar 5.
Albanese A, Bhatia K, Bressman SB, Delong MR, Fahn S, Fung VS, Hallett M, Jankovic J, Jinnah HA, Klein C, Lang AE, Mink JW, Teller JK. Reply: dystonia after severe head injuries. Mov Disord. 2014 Apr;29(4):578-9. doi: 10.1002/mds.25861. Epub 2014 Mar 3.
Prudente CN, Hess EJ, Jinnah HA. Dystonia as a network disorder: what is the role of the cerebellum?. Neuroscience. 2014 Feb 28;260:23-35. doi: 10.1016/j.neuroscience.2013.11.062. Epub 2013 Dec 11.
Fregosi RF, Ludlow CL. Activation of upper airway muscles during breathing and swallowing. J Appl Physiol (1985). 2014 Feb 1;116(3):291-301. doi: 10.1152/japplphysiol.00670.2013. Epub 2013 Oct 3.
Galpern WR, Coffey CS, Albanese A, Cheung K, Comella CL, Ecklund DJ, Fahn S, Jankovic J, Kieburtz K, Lang AE, McDermott MP, Shefner JM, Teller JK, Thompson JL, Yeatts SD, Jinnah HA. Designing clinical trials for dystonia. Neurotherapeutics. 2014 Jan;11(1):117-27. doi: 10.1007/s13311-013-0221-6.
Comella CL. Treatment of restless legs syndrome. Neurotherapeutics. 2014 Jan;11(1):177-87. doi: 10.1007/s13311-013-0247-9.
Jinnah HA, Albanese A. New concepts for dystonia. Moving Along: The Official Newsletter of the International Parkinson and Movement Disorder Society. 2014; 18: 6-7. [Feature article]
Tiderington E, Goodman EM, Rosen AR, Hapner ER, Johns MM 3rd, Evatt ML, Freeman A, Factor S, Jinnah HA. How long does it take to diagnose cervical dystonia?. J Neurol Sci. 2013 Dec 15;335(1-2):72-4. doi: 10.1016/j.jns.2013.08.028. Epub 2013 Aug 30.
Marsh L. Depression and Parkinson's disease: current knowledge. Curr Neurol Neurosci Rep. 2013 Dec;13(12):409. doi: 10.1007/s11910-013-0409-5.
Ceballos-Picot I, Augé F, Fu R, Olivier-Bandini A, Cahu J, Chabrol B, Aral B, de Martinville B, Lecain JP, Jinnah HA. Phenotypic variation among seven members of one family with deficiency of hypoxanthine-guanine phosphoribosyltransferase. Mol Genet Metab. 2013 Nov;110(3):268-74. doi: 10.1016/j.ymgme.2013.08.016. Epub 2013 Sep 8.
Khooshnoodi MA, Factor SA, Jinnah HA. Secondary blepharospasm associated with structural lesions of the brain. J Neurol Sci. 2013 Aug 15;331(1-2):98-101. doi: 10.1016/j.jns.2013.05.022. Epub 2013 Jun 6.
Peterson DA, Berque P, Jabusch HC, Altenmüller E, Frucht SJ. Rating scales for musician's dystonia: the state of the art. Neurology. 2013 Aug 6;81(6):589-98. doi: 10.1212/WNL.0b013e31829e6f72. Epub 2013 Jul 24.
Defazio G, Hallett M, Jinnah HA, Berardelli A. Development and validation of a clinical guideline for diagnosing blepharospasm. Neurology. 2013 Jul 16;81(3):236-40. doi: 10.1212/WNL.0b013e31829bfdf6. Epub 2013 Jun 14.
Moscovich M, LeDoux MS, Xiao J, Rampon GL, Vemula SR, Rodriguez RL, Foote KD, Okun MS. Dystonia, facial dysmorphism, intellectual disability and breast cancer associated with a chromosome 13q34 duplication and overexpression of TFDP1: case report. BMC Med Genet. 2013 Jul 13;14:70. doi: 10.1186/1471-2350-14-70.
Shaikh AG, Wong AL, Zee DS, Jinnah HA. Keeping your head on target. J Neurosci. 2013 Jul 3;33(27):11281-95. doi: 10.1523/JNEUROSCI.3415-12.2013.
Hubsch C, Roze E, Popa T, Russo M, Balachandran A, Pradeep S, Mueller F, Brochard V, Quartarone A, Degos B, Vidailhet M, Kishore A, Meunier S. Defective cerebellar control of cortical plasticity in writer's cramp. Brain. 2013 Jul;136(Pt 7):2050-62. doi: 10.1093/brain/awt147. PMID: 23801734; PMCID: PMC3692031.
Fung VS, Jinnah HA, Bhatia K, Vidailhet M. Assessment of patients with isolated or combined dystonia: an update on dystonia syndromes. Mov Disord. 2013 Jun 15;28(7):889-98. doi: 10.1002/mds.25549.
Albanese A, Sorbo FD, Comella C, Jinnah HA, Mink JW, Post B, Vidailhet M, Volkmann J, Warner TT, Leentjens AF, Martinez-Martin P, Stebbins GT, Goetz CG, Schrag A. Dystonia rating scales: critique and recommendations. Mov Disord. 2013 Jun 15;28(7):874-83. doi: 10.1002/mds.25579.
Lohmann K, Klein C. Genetics of dystonia: What's known? What's new? What's next?. Mov Disord. 2013 Jun 15;28(7):899-905. doi: 10.1002/mds.25536. PMID: 23893446.
Albanese A, Bhatia K, Bressman SB, Delong MR, Fahn S, Fung VS, Hallett M, Jankovic J, Jinnah HA, Klein C, Lang AE, Mink JW, Teller JK. Phenomenology and classification of dystonia: a consensus update. Mov Disord. 2013 Jun 15;28(7):863-73. doi: 10.1002/mds.25475. Epub 2013 May 6.
Zurowski M, McDonald WM, Fox S, Marsh L. Psychiatric comorbidities in dystonia: emerging concepts. Mov Disord. 2013 Jun 15;28(7):914-20. doi: 10.1002/mds.25501.
Mink JW. Special concerns in defining, studying, and treating dystonia in children. Mov Disord. 2013 Jun 15;28(7):921-5. doi: 10.1002/mds.25548.
Jinnah HA, Delong MR, Hallett M. The dystonias: past, present, and future. Mov Disord. 2013 Jun 15;28(7):849-50. doi: 10.1002/mds.25564.
Jinnah HA, Berardelli A, Comella C, Defazio G, Delong MR, Factor S, Galpern WR, Hallett M, Ludlow CL, Perlmutter JS, Rosen AR; Dystonia Coalition Investigators. The focal dystonias: current views and challenges for future research. Mov Disord. 2013 Jun 15;28(7):926-43. doi: 10.1002/mds.25567.
Klein C, Fahn S. Translation of Oppenheim's 1911 paper on dystonia. Mov Disord. 2013 Jun 15;28(7):851-62. doi: 10.1002/mds.25546. PMID: 23893442. [Translation from German]
Prudente CN, Pardo CA, Xiao J, Hanfelt J, Hess EJ, Ledoux MS, Jinnah HA. Neuropathology of cervical dystonia. Exp Neurol. 2013 Mar;241:95-104. doi: 10.1016/j.expneurol.2012.11.019. Epub 2012 Nov 27.
Popa T, Velayudhan B, Hubsch C, Pradeep S, Roze E, Vidailhet M, Meunier S, Kishore A. Cerebellar processing of sensory inputs primes motor cortex plasticity. Cereb Cortex. 2013 Feb;23(2):305-14. doi: 10.1093/cercor/bhs016. Epub 2012 Feb 20.
Ushe M, Perlmutter JS. Oromandibular and lingual dystonia associated with spinocerebellar ataxia type 8. Mov Disord. 2012 Dec;27(14):1741-2. doi: 10.1002/mds.25295.
Hedera P, Xiao J, Puschmann A, Momčilović D, Wu SW, LeDoux MS. Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia. BMC Neurol. 2012 Sep 18;12:93. doi: 10.1186/1471-2377-12-93.
White LJ, Hapner ER, Klein AM, Delgaudio JM, Hanfelt JJ, Jinnah HA, Johns MM 3rd. Coprevalence of anxiety and depression with spasmodic dysphonia: a case-control study. J Voice. 2012 Sep;26(5):667.e1-6. doi: 10.1016/j.jvoice.2011.08.011. Epub 2011 Dec 29.
Fleming BM, Schwab EL, Nouer SS, Wan JY, LeDoux MS. Prevalence, predictors, and perceived effectiveness of complementary, alternative and integrative medicine in adult-onset primary dystonia. Parkinsonism Relat Disord. 2012 Sep;18(8):936-40. doi: 10.1016/j.parkreldis.2012.04.027. Epub 2012 May 25.
LeDoux MS, Xiao J, Rudzińska M, Bastian RW, Wszolek ZK, Van Gerpen JA, Puschmann A, Momčilović D, Vemula SR, Zhao Y. Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases. Parkinsonism Relat Disord. 2012 Jun;18(5):414-25. doi: 10.1016/j.parkreldis.2012.02.001. Epub 2012 Feb 28.
Revuelta GJ, Benatar M, Freeman A, Wichmann T, Jinnah HA, DeLong MR, Factor SA. Clinical subtypes of anterocollis in parkinsonian syndromes. J Neurol Sci. 2012 Apr 15;315(1-2):100-3. doi: 10.1016/j.jns.2011.11.017. Epub 2011 Nov 30.
Xiao J, Uitti RJ, Zhao Y, Vemula SR, Perlmutter JS, Wszolek ZK, Maraganore DM, Auburger G, Leube B, Lehnhoff K, LeDoux MS. Mutations in CIZ1 cause adult onset primary cervical dystonia. Ann Neurol. 2012 Apr;71(4):458-69. doi: 10.1002/ana.23547. Epub 2012 Mar 23.
LeDoux MS. Dystonia: phenomenology. Parkinsonism Relat Disord. 2012 Jan;18 Suppl 1(Suppl 1):S162-4. doi: 10.1016/S1353-8020(11)70050-5.
LeDoux MS. The genetics of dystonias. Adv Genet. 2012;79:35-85. doi: 10.1016/B978-0-12-394395-8.00002-5. PMID: 22989765; PMCID: PMC4879967.
Thompson VB, Jinnah HA, Hess EJ. Convergent mechanisms in etiologically-diverse dystonias. Expert Opin Ther Targets. 2011 Dec;15(12):1387-403. doi: 10.1517/14728222.2011.641533. Epub 2011 Dec 3.
Shamim EA, Chu J, Scheider LH, Savitt J, Jinnah HA, Hallett M. Extreme task specificity in writer's cramp. Mov Disord. 2011 Sep;26(11):2107-9. doi: 10.1002/mds.23827. Epub 2011 Jun 28.
Jinnah HA, Hallett M. In the wink of an eye: nature and nurture in blepharospasm. Neurology. 2011 Aug 16;77(7):616-7. doi: 10.1212/WNL.0b013e3182299f84. Epub 2011 Jul 20.
Puschmann A, Xiao J, Bastian RW, Searcy JA, LeDoux MS, Wszolek ZK. An African-American family with dystonia. Parkinsonism Relat Disord. 2011 Aug;17(7):547-50. doi: 10.1016/j.parkreldis.2011.04.019. Epub 2011 May 20.
White LJ, Klein AM, Hapner ER, Delgaudio JM, Hanfelt JJ, Jinnah HA, Johns MM 3rd. Coprevalence of tremor with spasmodic dysphonia: a case-control study. Laryngoscope. 2011 Aug;121(8):1752-5. doi: 10.1002/lary.21872.
LeDoux MS. Animal models of dystonia: Lessons from a mutant rat. Neurobiol Dis. 2011 May;42(2):152-61. doi: 10.1016/j.nbd.2010.11.006. Epub 2010 Nov 21.
Neychev VK, Gross RE, Lehéricy S, Hess EJ, Jinnah HA. The functional neuroanatomy of dystonia. Neurobiol Dis. 2011 May;42(2):185-201. doi: 10.1016/j.nbd.2011.01.026. Epub 2011 Feb 12.
Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD, Karimi M, Paniello RC, Wszolek ZK, Uitti RJ, Van Gerpen JA, Simon DK, Tarsy D, Hedera P, Truong DD, Frei KP, Blitzer A, Rudzińska M, Pfeiffer RF, Le C, LeDoux MS. The c.-237_236GA>TT THAP1 sequence variant does not increase risk for primary dystonia. Mov Disord. 2011 Feb 15;26(3):549-52. doi: 10.1002/mds.23551. Epub 2011 Mar 2.
Ludlow CL. Spasmodic dysphonia: a laryngeal control disorder specific to speech. J Neurosci. 2011 Jan 19;31(3):793-7. doi: 10.1523/JNEUROSCI.2758-10.2011.
Jinnah HA. Needles in haystacks: the challenges of rare diseases. Dev Med Child Neurol. 2011 Jan;53(1):6-7. doi: 10.1111/j.1469-8749.2010.03791.x.
Hess EJ, Jen JC, Jinnah HA, Benarroch EE. Neuronal voltage-gated calcium channels: brief overview of their function and clinical implications in neurology. Neurology. 2010 Sep 7;75(10):937; author reply 937-8. doi: 10.1212/WNL.0b013e3181eee9e8.
Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD, Karimi M, Paniello RC, Wszolek ZK, Uitti RJ, Van Gerpen JA, Simon DK, Tarsy D, Hedera P, Truong DD, Frei KP, Dev Batish S, Blitzer A, Pfeiffer RF, Gong S, LeDoux MS. Novel THAP1 sequence variants in primary dystonia. Neurology. 2010 Jan 19;74(3):229-38. doi: 10.1212/WNL.0b013e3181ca00ca.
Cloud LJ, Jinnah HA. Treatment strategies for dystonia. Expert Opin Pharmacother. 2010 Jan;11(1):5-15. doi: 10.1517/14656560903426171.
Hess EJ, Jinnah HA. Rodent models of dystonia. In Animal models for movement disorders, LeDoux MS, Ed Elsevier Academic Press, Amsterdam. 2005. [Book chapter]
Wazeerud-Din IJ, Wong DA, Zhang W, Kuo CY, He M. Congenital Disorder of Glycosylation in a 40-Year-Old Male with Hypogammaglobulinemia. Clin Chem. 2025 Jul 4;71(7):821-823. doi: 10.1093/clinchem/hvaf048. PMID: 40613798; PMCID: PMC12231354.
Congenital disorders of glycosylation (CDG) are a large group of rare, inherited disorders that affect a complex process in the body called glycosylation. Mannosyl-oligosaccharide glucosidase (MOGS)-CDG is a very rare type of CDG caused by mutations in the MOGS gene.
In this journal article, researchers describe the diagnosis of a new case of MOGS-CDG. The 40-year-old male patient presented with symptoms including pan-hypogammaglobulinemia (low immunoglobulin levels). Researchers performed several tests, including an immune genetic disease gene panel and N-glycan analysis. Results confirmed a diagnosis of MOGS-CDG.
Radenkovic S, Adant I, Bird MJ, Swinnen JV, Cassiman D, Kozicz T, Gruenert SC, Ghesquière B, Morava E. Complex Metabolomic Changes in a Combined Defect of Glycosylation and Oxidative Phosphorylation in a Patient with Pathogenic Variants in PGM1 and NDUFA13. Cells. 2025 Apr 25;14(9):638. doi: 10.3390/cells14090638. PMID: 40358162; PMCID: PMC12071635.
Inherited metabolic disorders (IMDs) are a large group of genetically inherited disorders that affect the metabolism. Although there are currently about 1,450 different types of IMDs, they are individually rare, and even more rare for one individual to have two IMDs.
In this study, researchers examined metabolism changes in a patient with pathogenic variants in the PGM1 and NDUFA13 genes. The team evaluated fibroblasts from the patient, who had presented with characteristics of both PGM1-congenital disorder of glycosylation (CDG) and Leigh syndrome (mitochondrial disease) to better understand the cause of these characteristics.
Results showed a depletion of the UDP-hexose enzyme as well as impairment of complex I enzyme activity and mitochondrial function. Based on these findings, the patient was diagnosed with the first-known case of both PGM1-CDG and Leigh syndrome. Authors note that this study underlines the importance of considering the effects of multiple disease-causing variants in patients with complex clinical presentation.
Verberkmoes S, Mazza GL, Edmondson AC, Scaglia F, Horikoshi S, Kuschel B, Janssen MCH, Mousa J, Larson A, Shah R, McDonald G, Sarafoglou K, Berry G, Kozicz T, Lam C, Morava E. Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomes. Mol Genet Metab. 2025 Mar 19;145(1):109087. doi: 10.1016/j.ymgme.2025.109087. Epub ahead of print. PMID: 40121796.
Patient-centered outcomes, including patient-reported outcomes (PROs), are increasingly important in healthcare and to appropriately design clinical trials. Unfortunately using PROs in rare diseases is still limited.
Patients with Phosphomannomutase 2-CDG (PMM2-CDG) have highly variable clinical severity, underscoring the need for personalized outcome measures. We used a so far unexplored, individualized approach, the so called Goal Attainment Scaling (GAS), in our natural history study for CDG, which allowed patients to set and track personal goals over time.
We evaluated 93 PMM2-CDG patients assessing goal achievement prospectively. We also analyzed potential associations between GAS and factors such as age, sex, genetic background, and disease severity measured by the Nijmegen Progression CDG Rating Scale (NPCRS).
The most common goals set by patients were related to mobility (31.5 %) and communication (26.8 %), with additional goals focused on body function (22.8 %) and independence (18.8 %). Of the 68 patients with follow-up data, 23.5 % showed no improvement in their goals, while 20.6 % improved in all three personal goals.
It is very important to note, that there was no significant correlation between NPCRS score changes assessed by medical providers, and GAS improvement. Emphasizing the importance of patient set goals in severity scaling
GAS is a valuable additional outcome measure that ensures clinical improvements are meaningful for patients and their representatives, helping to assess individual goals and overall wellbeing.
Aryal RP, Ramanujan A, Bucci C, Neckelmann C, Heimburg-Molinaro J, Cummings SF, Erger F, Beck BB, Seaver LH, Cummings RD. C1GALT1C1-Associated Mosaic Disorder of Glycosylation in a Female. J Inherit Metab Dis. 2025 Mar;48(2):e70006. doi: 10.1002/jimd.70006.
Alharbi H, Horikoshi S, Jenkins SM, Scaglia F, Lam C, Morava E, Larson A, Edmondson AC. Causes of mortality in the congenital disorders of glycosylation. Mol Genet Metab. 2025 Mar;144(3):109052. doi: 10.1016/j.ymgme.2025.109052. Epub 2025 Feb 4.
Muffels IJJ, Kozicz T, Perlstein EO, Morava E. The Therapeutic Future for Congenital Disorders of Glycosylation. J Inherit Metab Dis. 2025 Mar;48(2):e70011. doi: 10.1002/jimd.70011.
García-Cazorla Á, Morava E, Saudubray JM. "Trafficking Disorders: Phenotypical Similarities and Differences With Other IMDs". J Inherit Metab Dis. 2025 Mar;48(2):e70004. doi: 10.1002/jimd.70004.
Matheny-Rabun C, Mokashi SS, Radenkovic S, Wiggins K, Dukes-Rimsky L, Angel P, Ghesquiere B, Kozicz T, Steet R, Morava E, Flanagan-Steet H. O-GlcNAcylation modulates expression and abundance of N-glycosylation machinery in an inherited glycosylation disorder. Cell Rep. 2024 Nov 26;43(11):114976. doi: 10.1016/j.celrep.2024.114976. Epub 2024 Nov 18.
Muffels IJJ, Sadek M, Kozicz T, Morava E. Assessing age of onset and clinical symptoms over time in patients with heterozygous pathogenic DHDDS variants. J Inherit Metab Dis. 2024 Sep;47(5):935-944. doi: 10.1002/jimd.12769. Epub 2024 Jun 21.
Mayfield JM, Hitefield NL, Czajewski I, Vanhye L, Holden L, Morava E, van Aalten DMF, Wells L. O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome. J Biol Chem. 2024 Sep;300(9):107599. doi: 10.1016/j.jbc.2024.107599. Epub 2024 Jul 24. PMID: 39059494; PMCID: PMC11381892.
O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG) is an inherited disorder caused by dysfunction of the OGT enzyme that affects a complex process in the body called glycosylation. Pathogenic variants associated with OGT-CDG are thought to disrupt the OGT interactome, which consists of interactions between thousands of proteins.
In this review paper, researchers evaluated the OGT interactome to identify potential mechanistic targets for OGT-CDG studies. The team also discussed clinical features of OGT-CDG and the biochemical effects of mutations.
Authors note that as more OGT variants are characterized and additional patients are identified, it may become possible to identify a set of common alterations in OGT function as well as a core set of clinical features of OGT-CDG, which could help improve diagnosis.
Marquez J, Cech JN, Paschal CR, Dingmann B, Scott AI, Thies JM, Mills MR, Albert CM, Beck AE, Beckman E, Bonkowski ES, Earl DL, Lam CT, Mefford HC, Merritt JL 2nd, Nelson Z, Ohlsen TJ, Taylor MR, Perlman SJ, Rudzinski ER, Sikes MC, Waligorski N, Wenger TL, Adam MP, Mirzaa GM, Bennett JT, Glass IA, Sternen DL, Miller DE. Clinical RNA sequencing clarifies variants of uncertain significance identified by prior testing. Genet Med Open. 2024;2:101886. doi: 10.1016/j.gimo.2024.101886. Epub 2024 Aug 9. PMID: 39484203; PMCID: PMC11526042.
RNA sequencing (RNA-seq) is a technique used to evaluate the sequence and quantity of messenger RNA, which can provide insights on gene expression. Although RNA-seq can help identify pathogenic variants in individuals with suspected genetic conditions, technological complexities and limited experience might affect its use in clinical practice.
In this study, researchers evaluated the use of RNA-seq to clarify variants of uncertain significance (VUS) in a clinical setting. The team developed a process to identify individuals who might benefit from clinical RNA-seq. Over a two-year period, genetics providers referred 26 cases for clinical RNA-seq, of which nine cases met the criteria for sequencing.
Results show that clinical RNA-seq was useful in clarifying uncertain results in about one-third of cases, including a new diagnosis of NGLY1 congenital disorder of deglycosylation. Authors note that demonstrating the clinical utility of RNA-seq may improve access to this new testing technique.
Sidpra J, Sudhakar S, Biswas A, Massey F, Turchetti V, Lau T, Cook E, Alvi JR, Elbendary HM, Jewell JL, Riva A, Orsini A, Vignoli A, Federico Z, Rosenblum J, Schoonjans AS, de Wachter M, Delgado Alvarez I, Felipe-Rucián A, Haridy NA, Haider S, Zaman M, Banu S, Anwaar N, Rahman F, Maqbool S, Yadav R, Salpietro V, Maroofian R, Patel R, Radhakrishnan R, Prabhu SP, Lichtenbelt K, Stewart H, Murakami Y, Löbel U, D'Arco F, Wakeling E, Jones W, Hay E, Bhate S, Jacques TS, Mirsky DM, Whitehead MT, Zaki MS, Sultan T, Striano P, Jansen AC, Lequin M, de Vries LS, Severino M, Edmondson AC, Menzies L, Campeau PM, Houlden H, McTague A, Efthymiou S, Mankad K. The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders. Brain. 2024 Aug 1;147(8):2775-2790. doi: 10.1093/brain/awae056.
Zemet R, Hope KD, Edmondson AC, Shah R, Patino M, Yesso AM, Berger JH, Sarafoglou K, Larson A, Lam C, Morava E, Scaglia F. Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluation. Mol Genet Metab. 2024 Aug;142(4):108513. doi: 10.1016/j.ymgme.2024.108513. Epub 2024 Jun 13.
Bosnyak I, Sadek M, Ranatunga W, Kozicz T, Morava E. Normal transferrin glycosylation does not rule out severe ALG1 deficiency. JIMD Rep. 2024 Apr 16;65(3):135-143. doi: 10.1002/jmd2.12415. eCollection 2024 May.
Lam C, Scaglia F, Berry GT, Larson A, Sarafoglou K, Andersson HC, Sklirou E, Tan QKG, Starosta RT, Sadek M, Wolfe L, Horikoshi S, Ali M, Barone R, Campbell T, Chang IJ, Coles K, Cook E, Eklund EA, Engelhardt NM, Freeman M, Friedman J, Fu DYT, Botzo G, Rawls B, Hernandez C, Johnsen C, Keller K, Kramer S, Kuschel B, Leshinski A, Martinez-Duncker I, Mazza GL, Mercimek-Andrews S, Miller BS, Muthusamy K, Neira J, Patterson MC, Pogorelc N, Powers LN, Ramey E, Reinhart M, Squire A, Thies J, Vockley J, Vreugdenhil H, Witters P, Youbi M, Zeighami A, Zemet R, Edmondson AC, Morava E. Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort. Mol Genet Metab. 2024 Jun 6;142(4):108509. doi: 10.1016/j.ymgme.2024.108509. Epub ahead of print. PMID: 38959600.
Congenital disorders of glycosylation (CDG) are a large group of rare, inherited disorders that affect a complex process in the body called glycosylation. Because the many different types of CDG are rare and vary widely, not much is known about the progression of this group of disorders.
In this study, researchers are exploring the natural history of CDG. The team is gathering data from 280 individuals with CDG across 9 clinical sites. Now at year 5 of the study, the team is sharing an overview of participant characteristics.
Initial findings include insights on liver function, patient-reported outcomes, and neurological features, as well as information on ultra-rare genetic causes of CDG. Authors note that this study serves as an important resource to build future research studies, improve clinical care, and prepare for clinical trial readiness.
Shah R, Eklund EA, Radenkovic S, Sadek M, Shammas I, Verberkmoes S, Ng BG, Freeze HH, Edmondson AC, He M, Kozicz T, Altassan R, Morava E. ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines. Mol Genet Metab. 2024 Jun;142(2):108472. doi: 10.1016/j.ymgme.2024.108472. Epub 2024 Apr 23.
Starosta RT, Lee AJ, Toolan ER, He M, Wongkittichote P, Daniel EJP, Radenkovic S, Budhraja R, Pandey A, Sharma J, Morava E, Nguyen H, Dickson PI. D-mannose as a new therapy for fucokinase deficiency-related congenital disorder of glycosylation (FCSK-CDG). Mol Genet Metab. 2024 Jun;142(2):108488. doi: 10.1016/j.ymgme.2024.108488. Epub 2024 May 9.
Budhraja R, Radenkovic S, Jain A, Muffels IJJ, Ismaili MHA, Kozicz T, Pandey A, Morava E. Liposome-encapsulated mannose-1-phosphate therapy improves global N-glycosylation in different congenital disorders of glycosylation. Mol Genet Metab. 2024 Jun;142(2):108487. doi: 10.1016/j.ymgme.2024.108487. Epub 2024 May 7.
Martínez Duncker I, Mata-Salgado D, Shammas I, Ranatunga W, Daniel EJP, Cruz Muñoz ME, Abreu M, Mora-Montes H, He M, Morava E, Zafra de la Rosa G. Case report: Novel genotype of ALG2-CDG and confirmation of the heptasaccharide glycan (NeuAc-Gal-GlcNAc-Man2-GlcNAc2) as a specific diagnostic biomarker. Front Genet. 2024 May 6;15:1363558. doi: 10.3389/fgene.2024.1363558. eCollection 2024.
Daniel EJP, Edmondson AC, Argon Y, Alsharhan H, Lam C, Freeze HH, He M. Deficient glycan extension and endoplasmic reticulum stresses in ALG3-CDG. J Inherit Metab Dis. 2024 Apr 10. doi: 10.1002/jimd.12739. Epub ahead of print. PMID: 38597022.
ALG3-CDG is a rare congenital disorder of glycosylation (CDG) characterized by neurological symptoms, transaminitis (elevated liver enzymes), and frequent infections. When the endoplasmic reticulum—a network of membranes inside a cell that plays a major role in protein synthesis and transport—is under stress, one of the earliest and fastest responses in cells is glycan extension. The first step of this process is catalyzed by the ALG3 enzyme, which is deficient in patients with ALG3-CDG.
In this study, researchers investigated the effects of glycan extension deficiency in ALG3-CDG. The team explored the biochemical consequences of this deficiency and associated response to endoplasmic reticulum stress.
These results provide a better understanding of how glycan extension deficiency affects patients with ALG3-CDG. Authors note that these findings also have important implications for the development of personalized medicine for other types of CDG.
Garapati K, Budhraja R, Saraswat M, Kim J, Joshi N, Sachdeva GS, Jain A, Ligezka AN, Radenkovic S, Ramarajan MG, Udainiya S, Raymond K, He M, Lam C, Larson A, Edmondson AC, Sarafoglou K, Larson NB, Freeze HH, Schultz MJ, Kozicz T, Morava E, Pandey A. A complement C4-derived glycopeptide is a biomarker for PMM2-CDG. JCI Insight. 2024 Apr 8;9(7):e172509. doi: 10.1172/jci.insight.172509.
Budhraja R, Joshi N, Radenkovic S, Kozicz T, Morava E, Pandey A. Dysregulated proteome and N-glycoproteome in ALG1-deficient fibroblasts. Proteomics. 2024 Mar 12:e2400012. doi: 10.1002/pmic.202400012. Epub ahead of print. PMID: 38470198.
ALG1-congenital disorder of glycosylation (ALG1-CDG) is an inherited disorder caused by variants in the ALG1 gene. These variants affect N-glycosylation, which is the body’s process of creating, changing, and attaching sugar blocks to proteins and lipids. However, not much is known about how these variants affect the cellular proteome (proteins expressed in cells) and the process of glycosylation.
In this study, researchers explored proteomics and N-glycoproteomics in ALG1-CDG. The team studied fibroblasts (connective tissue cells) from three individuals with different ALG1 variants.
Results revealed altered protein levels and a reduction of mature forms of glycopeptides. Authors note that these results can help us understand the biology and molecular mechanisms of ALG1-CDG, differentiate CDG types, and identify potential biomarkers.
Radenkovic S, Budhraja R, Klein-Gunnewiek T, King AT, Bhatia TN, Ligezka AN, Driesen K, Shah R, Ghesquière B, Pandey A, Kasri NN, Sloan SA, Morava E, Kozicz T. Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models. Cell Rep. 2024 Mar 1;43(3):113883. doi: 10.1016/j.celrep.2024.113883. Epub ahead of print. PMID: 38430517.
PMM2-congenital disorder of glycosylation (PMM2-CDG) is an inherited condition caused by mutations in the PMM2 gene. Most individuals with PMM2-CDG experience neurological symptoms. However, not much is known about the specific brain-related changes caused by PMM2 deficiency.
In this study, researchers explored the neurological characteristics of PMM2-CDG using human in vitro neural models. The team created human induced pluripotent stem cell (hiPSC)-derived neural models to observe changes in neural function and metabolic dynamics.
Results revealed disrupted functioning of PMM2-deficient neuronal networks, as well as widespread changes in metabolite composition, RNA expression, protein abundance, and protein glycosylation. Authors note that these findings introduce potentially critical factors contributing to the early neural issues in patients with PMM2-CDG, paving the way for exploring innovative treatment approaches.
Madan-Khetarpal S, He M, Wongkittichote P, Dobrowolski SF. Congenital Disorder of Glycosylation in a Child with Macrosomia. Clin Chem. 2023 Dec 1;69(12):1432-1434. doi: 10.1093/clinchem/hvad166.
Muthusamy K, Perez-Ortiz JM, Ligezka AN, Altassan R, Johnsen C, Schultz MJ, Patterson MC, Morava E. Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions. Genet Med. 2023 Nov 10;26(2):101027. doi: 10.1016/j.gim.2023.101027. Online ahead of print.
Duan R, Marafi D, Xia ZJ, Ng BG, Maroofian R, Sumya FT, Saad AK, Du H, Fatih JM, Hunter JV, Elbendary HM, Baig SM, Abdullah U, Ali Z, Efthymiou S, Murphy D, Mitani T, Withers MA, Jhangiani SN, Coban-Akdemir Z, Calame DG, Pehlivan D, Gibbs RA, Posey JE, Houlden H, Lupashin VV, Zaki MS, Freeze HH, Lupski JR. Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking. J Inherit Metab Dis. 2023 Nov;46(6):1195-1205. doi: 10.1002/jimd.12679. Epub 2023 Oct 5.
Altassan R, Allers MM, De Graef D, Shah R, de Vries M, Larson A, Glamuzina E, Morava E. Defining the phenotype of PGAP3-congenital disorder of glycosylation; a review of 65 cases. Mol Genet Metab. 2023 Nov;140(3):107688. doi: 10.1016/j.ymgme.2023.107688. Epub 2023 Aug 23.
Del Caño-Ochoa F, Ng BG, Rubio-Del-Campo A, Mahajan S, Wilson MP, Vilar M, Rymen D, Sánchez-Pintos P, Kenny J, Martos ML, Campos T, Wortmann SB, Freeze HH, Ramón-Maiques S. Beyond genetics: Deciphering the impact of missense variants in CAD deficiency. J Inherit Metab Dis. 2023 Nov;46(6):1170-1185. doi: 10.1002/jimd.12667. Epub 2023 Sep 11.
CAD deficiency is a rare congenital disorder of glycosylation characterized by epileptic encephalopathy (disease affecting the brain). Because symptoms are non-specific, there is no biomarker, and the CAD protein has over 1,000 known variants, CAD deficiency is difficult to diagnose.
In this study, researchers aimed to improve diagnosis of CAD deficiency. The team assessed the disease-causing ability of both previously reported and unreported CAD variants. Additionally, researchers studied the impact of disease-causing variants at the protein level.
Authors note that combining these functional and protein structural analysis methods can help refine clinical diagnostic workflow for CAD variants.
Starosta RT, Kerashvili N, Pruitt C, Schultz MJ, Boyer SW, Morava E, Lasio MLD, Grange DK. PIGO-CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerations. JIMD Rep. 2023 Sep 20;64(6):424-433. doi: 10.1002/jmd2.12396. eCollection 2023 Nov.
Wang R, Helbig I, Edmondson AC, Lin L, Xing Y. Splicing defects in rare diseases: transcriptomics and machine learning strategies towards genetic diagnosis. Brief Bioinform. 2023 Sep 20;24(5):bbad284. doi: 10.1093/bib/bbad284. PMID: 37580177; PMCID: PMC10516351
Many rare diseases are caused by genomic variants that affect the process of pre-messenger RNA splicing and its regulation. However, these splice-altering variants are often overlooked by common workflows for genetic diagnosis and clinical variant interpretation.
In this review, researchers summarized recent developments and challenges in using RNA sequencing technologies to investigate rare diseases. Discussion included the use of new computational splicing prediction tools to reveal splice-altering variants.
Authors predict that continuous improvements to sequencing technologies and predictive modeling will expand our understanding of splicing regulation and improve diagnoses for rare disease patients.
Monticelli M, D'Onofrio T, Jaeken J, Morava E, Andreotti G, Cubellis MV. Congenital disorders of glycosylation: narration of a story through its patents. Orphanet J Rare Dis. 2023 Aug 29;18(1):247. doi: 10.1186/s13023-023-02852-w.
Hong X, Edmondson AC, Strong A, Pomerantz D, Michl E, Berry G, He M. Combined PMM2-CDG and hereditary fructose intolerance in a patient with mild clinical presentation. Mol Genet Metab. 2023 Aug 9;140(3):107682. doi: 10.1016/j.ymgme.2023.107682. Online ahead of print.
Ligezka AN, Budhraja R, Nishiyama Y, Fiesel FC, Preston G, Edmondson A, Ranatunga W, Van Hove JLK, Watzlawik JO, Springer W, Pandey A, Morava E, Kozicz T. Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG. Genes (Basel). 2023 Aug 4;14(8):1585. doi: 10.3390/genes14081585. PMID: 37628636; PMCID: PMC10454768
PMM2-CDG is a type of congenital disorder of glycosylation caused by mutations in the PMM2 gene. Some types of CDG are associated with dysfunction of the mitochondria, which generate energy to power cells. However, not much is known about cellular bioenergetics (how cells transform energy) in PMM2-CDG.
In this study, researchers evaluated mitochondrial function and autophagy (the process of breaking down cellular contents) in PMM2-CDG. The team evaluated fibroblasts (skin cell-derived connective tissue cells) with different genotypes from a natural history study of individuals with PMM2-CDG.
Results reveal secondary mitochondrial dysfunction in PMM2-CDG, as well as altered autophagy, which may act as a marker of disease severity. Authors note that manipulating these processes could offer therapeutic benefits when combined with existing treatments for PMM2-CDG.
Radenkovic S, Ligezka AN, Mokashi SS, Driesen K, Dukes-Rimsky L, Preston G, Owuocha LF, Sabbagh L, Mousa J, Lam C, Edmondson A, Larson A, Schultz M, Vermeersch P, Cassiman D, Witters P, Beamer LJ, Kozicz T, Flanagan-Steet H, Ghesquière B, Morava E. Tracer metabolomics reveals the role of aldose reductase in glycosylation. Cell Rep Med. 2023 Jun 20;4(6):101056. doi: 10.1016/j.xcrm.2023.101056. Epub 2023 May 30.
De Graef D, Ligezka AN, Rezents J, Mazza GL, Preston G, Schwartz K, Krzysciak W, Lam C, Edmondson AC, Johnsen C, Kozicz T, Morava E. Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation. Mol Genet Metab. 2023 Jun;139(2):107606. doi: 10.1016/j.ymgme.2023.107606. Epub 2023 May 9.
Shah R, Johnsen C, Pletcher BA, Edmondson AC, Kozicz T, Morava E. Long-term outcomes in ALG13-Congenital Disorder of Glycosylation. Am J Med Genet A. 2023 Jun;191(6):1626-1631. doi: 10.1002/ajmg.a.63179. Epub 2023 Mar 17.
Sitek A, Ligezka A, Budhraja R, Morava E, Chiarella SE. Pathogenic DDOST Variant Is Associated with Humoral Immune Deficiency. J Clin Immunol. 2023 May;43(4):692-694. doi: 10.1007/s10875-023-01429-3. Epub 2023 Jan 12.
Tahata S, Weckwerth J, Ligezka A, He M, Lee HE, Heimbach J, Ibrahim SH, Kozicz T, Furuya K, Morava E. Liver transplantation recovers hepatic N-glycosylation with persistent IgG glycosylation abnormalities: Three-year follow-up in a patient with phosphomannomutase-2-congenital disorder of glycosylation. Mol Genet Metab. 2023 Apr;138(4):107559. doi: 10.1016/j.ymgme.2023.107559. Epub 2023 Mar 17.
Alharbi H, Daniel EJP, Thies J, Chang I, Goldner DL, Ng BG, Witters P, Aqul A, Velez-Bartolomei F, Enns GM, Hsu E, Kichula E, Lee E, Lourenco C, Poskanzer SA, Rasmussen S, Saarela K, Wang YM, Raymond KM, Schultz MJ, Freeze HH, Lam C, Edmondson AC, He M. Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association. J Inherit Metab Dis. 2023 Mar;46(2):300-312. doi: 10.1002/jimd.12589. Epub 2023 Jan 29.
Radenkovic S, Laerdahl JK, Backe PH, Morava E. The role of PGM1isoform 2 in PGM1-CDG: One step closer to genotype-phenotype correlation?. J Inherit Metab Dis. 2023 Mar;46(2):159-160. doi: 10.1002/jimd.12601.
Balakrishnan B, Altassan R, Budhraja R, Liou W, Lupo A, Bryant S, Mankouski A, Radenkovic S, Preston GJ, Pandey A, Boudina S, Kozicz T, Morava-Kozicz E, Lai K. AAV-based gene therapy prevents and halts the progression of dilated cardiomyopathy in a mouse model of phosphoglucomutase 1 deficiency (PGM1-CDG). Transl Res. 2023 Jul;257:1-14. doi: 10.1016/j.trsl.2023.01.004. Epub 2023 Jan 26.
Altassan R, Albert-Brotons DC, Alowain M, Al-Halees Z, Jaeken J, Morava E. Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency (PGM1-CDG). JIMD Rep. 2022 Nov 22;64(2):123-128. doi: 10.1002/jmd2.12350. eCollection 2023 Mar.
Sosicka P, Ng BG, Freeze HH. Chemical Therapies for Congenital Disorders of Glycosylation. ACS Chem Biol. 2022 Nov 18;17(11):2962-2971. doi: 10.1021/acschembio.1c00601. Epub 2021 Nov 17.
Mahajan S, Ng BG, AlAbdi L, Earnest PDJ, Sosicka P, Patel N, Helaby R, Abdulwahab F, He M, Alkuraya FS, Freeze HH. Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement. J Med Genet. 2022 Nov 10:jmg-2022-108821. doi: 10.1136/jmg-2022-108821. Epub ahead of print. PMID: 36357165.
Congenital disorders of glycosylation (CDG) are a large group of rare, inherited disorders that affect a complex process in the body called glycosylation. Defects in Golgi enzymes, which play a critical role in N-glycan processing and brain development, are often defined as types of CDG. However, defects in the Golgi enzyme MAN2A2 have not been known to cause defects in glycosylation. In this study, researchers investigated the effects of variants in MAN2A2. In a family of affected individuals, the team performed exome sequencing, analyzed N-glycans, and designed a cell-based complementation assay to evaluate the disease-causing effects of the variant. Findings show that variants in MAN2A2 cause a new type of CDG, which is characterized by neurological involvement and facial dysmorphism. Authors note that the cell-based complementation assay designed in this study can also help diagnose patients with potentially pathogenic variants in a very similar enzyme, MAN2A1.
Elsharkawi I, Wongkittichote P, Daniel EJP, Starosta RT, Ueda K, Ng BG, Freeze HH, He M, Shinawi M. DDOST-CDG. Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype. J Inherit Metab Dis. 2022 Oct 10. doi: 10.1002/jimd.12565. Epub ahead of print. PMID: 36214423.
Sosicka P, Ng BG, Pepi LE, Shajahan A, Wong M, Scott DA, Matsumoto K, Xia ZJ, Lebrilla CB, Haltiwanger RS, Azadi P, Freeze HH. Origin of cytoplasmic GDP-fucose determines its contribution to glycosylation reactions. J Cell Biol. 2022 Oct 3;221(10):e202205038. doi: 10.1083/jcb.202205038. Epub 2022 Sep 2. PMID: 36053214.
Budhraja R, Saraswat M, De Graef D, Ranatunga W, Ramarajan MG, Mousa J, Kozicz T, Pandey A, Morava E. N-glycoproteomics reveals distinct glycosylation alterations in NGLY1-deficient patient-derived dermal fibroblasts. J Inherit Metab Dis. 2022 Sep 14. doi: 10.1002/jimd.12557. Epub ahead of print. PMID: 36102038.
NGLY1-CDDG (congenital disorder of deglycosylation) is a multisystemic, inherited condition caused by a mutation in the NGLY1 gene. Although the NGLY1 enzyme plays an essential role in the process of deglycosylation, the effects of NGLY1 deficiency on protein glycosylation are not yet understood. In this study, researchers explored the hypothesis that NGLY1 deficiency leads to accumulation of misfolded glycoproteins. Using glycoproteomics and proteomics methods, the team analyzed fibroblasts from four patients with NGLY1 deficiency carrying different variants in NGLY1. Results showed no significant accumulation of glycoproteins in the NGLY1-deficient fibroblasts. However, researchers found distinct changes in specific glycoproteins. As the first study of its kind, authors note that these findings highlight new insights for understanding NGLY1-CDDG.
Shimada S, Ng BG, White AL, Nickander KK, Turgeon C, Liedtke KL, Lam CT, Font-Montgomery E, Lourenco CM, He M, Peck DS, Umana LA, Uhles CL, Haynes D, Wheeler PG, Bamshad MJ, Nickerson DA, Cushing T, Gates R, Gomez-Ospina N, Byers HM; UW Center for Mendelian Genomics; Scalco FB, Martinez NN, Sachdev R, Smith L, Poduri A, Malone S, Harris RV, Scheffer IE, Rosenzweig SD, Adams DR, Gahl WA, Malicdan MCV, Raymond KM, Freeze HH, Wolfe LA. Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation. J Med Genet. 2022 Jul 5:jmedgenet-2021-108177. doi: 10.1136/jmedgenet-2021-108177. Online ahead of print.
Albokhari D, Ng BG, Guberinic A, Daniel EJP, Engelhardt NM, Barone R, Fiumara A, Garavelli L, Trimarchi G, Wolfe L, Raymond KM, Morava E, He M, Freeze HH, Lam C, Edmondson AC. ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines. J Inherit Metab Dis.. 2022 Jun 18. doi: 10.1002/jimd.12527. Epub ahead of print. PMID: 35716054.
Geiculescu I, Dranove J, Cosper G, Edmondson AC, Morava-Kozicz E, Carter LB. A rare cause of infantile achalasia: GMPPA-congenital disorder of glycosylation with two novel compound heterozygous variants. Am J Med Genet A. 2022 Jun 4. doi: 10.1002/ajmg.a.62859. Epub ahead of print. PMID: 35665995.
Ritter AL, Gold J, Hayashi H, Ackermann AM, Hanke S, Skraban C, Cuddapah S, Bhoj E, Li D, Kuroda Y, Wen J, Takeda R, Bibb A, El Chehadeh S, Piton A, Ohl J, Kukolich MK, Nagasaki K, Kato K, Ogi T, Bhatti T, Russo P, Krock B, Murrell JR, Sullivan JA, Shashi V, Stong N, Hakonarson H, Sawano K, Torti E, Willaert R, Si Y, Wilcox WR, Wirgenes KV, Thomassen K, Carlotti K, Erwin A, Lazier J, Marquardt T, He M, Edmondson AC, Izumi K. Expanding the phenotypic spectrum of ARCN1-related syndrome. Genet Med. 2022 Jun;24(6):1227-1237. doi: 10.1016/j.gim.2022.02.005. Epub 2022 Mar 14.
Boyer SW, Johnsen C, Morava E. Nutrition interventions in congenital disorders of glycosylation. Trends Mol Med. 2022 Jun;28(6):463-481. doi: 10.1016/j.molmed.2022.04.003. Epub 2022 May 10.
Ligezka AN, Mohamed A, Pascoal C, Ferreira VDR, Boyer S, Lam C, Edmondson A, Krzysciak W, Golebiowski R, Perez-Ortiz J, Morava E. Patient-reported outcomes and quality of life in PMM2-CDG. Mol Genet Metab. 2022 Jun;136(2):145-151. doi: 10.1016/j.ymgme.2022.04.002. Epub 2022 Apr 20.
Freeze HH, Jaeken J, Matthijs G. CDG or not CDG. J Inherit Metab Dis.. 2022 May;45(3):383-385. doi: 10.1002/jimd.12498. Epub 2022 Apr 1. PMID: 35338706; PMCID: PMC9121739.
Tahata S, Raymond K, Quade M, Barnes S, Boyer S, League S, Kumanovics A, Abraham R, Jacob E, Menon P, Morava E. Defining the mild variant of leukocyte adhesion deficiency type II (SLC35C1-congenital disorder of glycosylation) and response to l-fucose therapy: Insights from two new families and review of the literature. Am J Med Genet A. 2022 Mar 26. doi: 10.1002/ajmg.a.62737. Epub ahead of print. PMID: 35338746.
Tiwary H, Hecht LE, Brucker WJ, Berry GT, Rodig NM. The development of end stage renal disease in two patients with PMM2-CDG. JIMD Rep. 2022 Jan 10;63(2):131-136. doi: 10.1002/jmd2.12269. eCollection 2022 Mar.
Hong X, Alharbi H, Albokhari D, Edmondson AC, He M. A 6-Month-Old Infant with Severe Failure to Thrive during COVID-19 Pandemic. Clin Chem. 2022 Jul 3;68(7):987-989. doi: 10.1093/clinchem/hvac012.
Ligezka AN, Radenkovic S, Saraswat M, Garapati K, Ranatunga W, Krzysciak W, Yanaihara H, Preston G, Brucker W, McGovern RM, Reid JM, Cassiman D, Muthusamy K, Johnsen C, Mercimek-Andrews S, Larson A, Lam C, Edmondson AC, Ghesquière B, Witters P, Raymond K, Oglesbee D, Pandey A, Perlstein EO, Kozicz T, Morava E. Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications. Ann Neurol. 2021 Dec;90(6):887-900. doi: 10.1002/ana.26245. Epub 2021 Oct 26.
Vaes L, Rymen D, Cassiman D, Ligezka A, Vanhoutvin N, Quelhas D, Morava E, Witters P Genotype-Phenotype Correlations in PMM2-CDG . Genotype-Phenotype Correlations in PMM2-CDG. Genes (Basel). 2021 Oct 21;12(11):1658. doi: 10.3390/genes12111658. PMID: 34828263; PMCID: PMC8620515.
Johnsen C, Edmondson AC.. Manifestations and Management of Hepatic Dysfunction in Congenital Disorders of Glycosylation. Clin Liver Dis (Hoboken). 2021 Sep 19;18(2):54-66. doi: 10.1002/cld.1105. eCollection 2021 Aug.
Čechová A, Honzík T, Edmondson AC, Ficicioglu C, Serrano M, Barone R, De Lonlay P, Schiff M, Witters P, Lam C, Patterson M, Janssen MCH, Correia J, Quelhas D, Sykut-Cegielska J, Plotkin H, Morava E, Sarafoglou K. Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?. Mol Genet Metab. 2021 Aug;133(4):397-399. doi: 10.1016/j.ymgme.2021.06.003. Epub 2021 Jun 11.
Polla DL, Edmondson AC, Duvet S, March ME, Sousa AB, Lehman A; CAUSES Study, Niyazov D, van Dijk F, Demirdas S, van Slegtenhorst MA, Kievit AJA, Schulz C, Armstrong L, Bi X, Rader DJ, Izumi K, Zackai EH, de Franco E, Jorge P, Huffels SC, Hommersom M, Ellard S, Lefeber DJ, Santani A, Hand NJ, van Bokhoven H, He M, de Brouwer APM. Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation. Am J Hum Genet. 2021 Jul 1;108(7):1342-1349. doi: 10.1016/j.ajhg.2021.05.010. Epub 2021 Jun 17.
Morava E, Schatz UA, Torring PM, Abbott MA, Baumann M, Brasch-Andersen C, Chevalier N, Dunkhase-Heinl U, Fleger M, Haack TB, Nelson S, Potelle S, Radenkovic S, Bommer GT, Van Schaftingen E, Veiga-da-Cunha M. Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder. Am J Hum Genet. 2021 Jun 3;108(6):1151-1160. doi: 10.1016/j.ajhg.2021.04.017. Epub 2021 May 11.
Perales-Clemente E, Liedtke K, Studinski A, Radenkovic S, Gavrilov D, Oglesbee D, Matern D, Rinaldo P, Tortorelli S, Morava E, Raymond K. A new D-galactose treatment monitoring index for PGM1-CDG. J Inherit Metab Dis. 2021 Sep;44(5):1263-1271. doi: 10.1002/jimd.12406. Epub 2021 Jun 22.
Witters P, Andersson H, Jaeken J, Tseng L, van Karnebeek CDM, Lefeber DJ, Cassiman D, Morava E. D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial. Orphanet J Rare Dis. 2021 Mar 20;16(1):138. doi: 10.1186/s13023-020-01609-z.
Alsharhan H, He M, Edmondson AC, Daniel EJP, Chen J, Donald T, Bakhtiari S, Amor DJ, Jones EA, Vassallo G, Vincent M, Cogné B, Deb W, Werners AH, Jin SC, Bilguvar K, Christodoulou J, Webster RI, Yearwood KR, Ng BG, Freeze HH, Kruer MC, Li D, Raymond KM, Bhoj EJ, Sobering AK. ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes. J Inherit Metab Dis. 2021 Mar 18. doi: 10.1002/jimd.12378. Online ahead of print.
Witters P, Edmondson AC, Lam C, Johnsen C, Patterson MC, Raymond KM, He M, Freeze HH, Morava E. Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study. Orphanet J Rare Dis. 2021 Feb 25;16(1):102. doi: 10.1186/s13023-021-01751-2.
Alsharhan H, Ng BG, Daniel EJP, Friedman J, Pivnick EK, Al-Hashem A, Faqeih EA, Liu P, Engelhardt NM, Keller KN, Chen J, Mazzeo PA; University of Washington Center for Mendelian Genomics (UW-CMG), Rosenfeld JA, Bamshad MJ, Nickerson DA, Raymond KM, Freeze HH, He M, Edmondson AC, Lam C. Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG. J Inherit Metab Dis. 2021 Feb 13. doi: 10.1002/jimd.12367. Online ahead of print.
Berry GT, Freeze HH, Morava E. Is X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy a congenital disorder of glycosylation?. Epilepsia. 2021 Feb;62(2):335-336. doi: 10.1111/epi.16817. Epub 2021 Feb 11.
Starosta RT, Boyer S, Tahata S, Raymond K, Lee HE, Wolfe LA, Lam C, Edmondson AC, Schwartz IVD, Morava E. Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up. Orphanet J Rare Dis. 2021 Jan 7;16(1):20. doi: 10.1186/s13023-020-01630-2.
Radenkovic S, Fitzpatrick-Schmidt T, Byeon SK, Madugundu AK, Saraswat M, Lichty A, Wong SYW, McGee S, Kubiak K, Ligezka A, Ranatunga W, Zhang Y, Wood T, Friez MJ, Clarkson K, Pandey A, Jones JR, Morava E. Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation. Mol Genet Metab. 2021 Jan;132(1):27-37. doi: 10.1016/j.ymgme.2020.10.007. Epub 2020 Oct 17.
Poskanzer SA, Schultz MJ, Turgeon CT, Vidal-Folch N, Liedtke K, Oglesbee D, Gavrilov DK, Tortorelli S, Matern D, Rinaldo P, Bennett JT, Thies JM, Chang IJ, Beck AE, Raymond K, Allenspach EJ, Lam C. Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature. Am J Med Genet A. 2021 Jan;185(1):213-218. doi: 10.1002/ajmg.a.61914. Epub 2020 Oct 12.
Altassan R, Radenkovic S, Edmondson AC, Barone R, Brasil S, Cechova A, Coman D, Donoghue S, Falkenstein K, Ferreira V, Ferreira C, Fiumara A, Francisco R, Freeze H, Grunewald S, Honzik T, Jaeken J, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-da-Silva D, Pascoal C, Quelhas D, Raymond KM, Rymen D, Seroczynska M, Serrano M, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Voermans N, Witters P, Morava E. International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management. J Inherit Metab Dis. 2021 Jan;44(1):148-163. doi: 10.1002/jimd.12286. Epub 2020 Sep 15.
Wilson MP, Garanto A, Pinto E Vairo F, Ng BG, Ranatunga WK, Ventouratou M, Baerenfaenger M, Huijben K, Thiel C, Ashikov A, Keldermans L, Souche E, Vuillaumier-Barrot S, Dupré T, Michelakakis H, Fiumara A, Pitt J, White SM, Lim SC, Gallacher L, Peters H, Rymen D, Witters P, Ribes A, Morales-Romero B, Rodríguez-Palmero A, Ballhausen D, de Lonlay P, Barone R, Janssen MCH, Jaeken J, Freeze HH, Matthijs G, Morava E, Lefeber DJ. Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings. Am J Hum Genet. 2021 Nov 4;108(11):2130-2144. doi: 10.1016/j.ajhg.2021.09.012. Epub 2021 Oct 14. PMID: 34653363; PMCID: PMC8595932.
Ferrer A, Starosta RT, Ranatunga W, Ungar D, Kozicz T, Klee E, Rust LM, Wick M, Morava E. Fetal glycosylation defect due to ALG3 and COG5 variants detected via amniocentesis: Complex glycosylation defect with embryonic lethal phenotype. Mol Genet Metab. 2020 Dec;131(4):424-429. doi: 10.1016/j.ymgme.2020.11.003. Epub 2020 Nov 7.
Ng BG, Eklund EA, Shiryaev SA, Dong YY, Abbott MA, Asteggiano C, Bamshad MJ, Barr E, Bernstein JA, Chelakkadan S, Christodoulou J, Chung WK, Ciliberto MA, Cousin J, Gardiner F, Ghosh S, Graf WD, Grunewald S, Hammond K, Hauser NS, Hoganson GE, Houck KM, Kohler JN, Morava E, Larson AA, Liu P, Madathil S, McCormack C, Meeks NJL, Miller R, Monaghan KG, Nickerson DA, Palculict TB, Papazoglu GM, Pletcher BA, Scheffer IE, Schenone AB, Schnur RE, Si Y, Rowe LJ, Serrano Russi AH, Russo RS, Thabet F, Tuite A, Villanueva MM, Wang RY, Webster RI, Wilson D, Zalan A; Undiagnosed Diseases Network, University of Washington Center for Mendelian Genomics (UW-CMG), Wolfe LA, Rosenfeld JA, Rhodes L, Freeze HH. Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions. J Inherit Metab Dis. 2020 Nov;43(6):1333-1348. doi: 10.1002/jimd.12290. Epub 2020 Aug 5.
Del Caño-Ochoa F, Ng BG, Abedalthagafi M, Almannai M, Cohn RD, Costain G, Elpeleg O, Houlden H, Karimiani EG, Liu P, Manzini MC, Maroofian R, Muriello M, Al-Otaibi A, Patel H, Shimon E, Sutton VR, Toosi MB, Wolfe LA, Rosenfeld JA, Freeze HH, Ramón-Maiques S. Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy. Genet Med. 2020 Oct;22(10):1598-1605. doi: 10.1038/s41436-020-0833-2. Epub 2020 May 28.
Qian Z, Van den Eynde J, Heymans S, Mertens L, Morava E. Vascular ring anomaly in a patient with phosphomannomutase 2 deficiency: A case report and review of the literature. JIMD Rep. 2020 Aug 19;56(1):27-33. doi: 10.1002/jmd2.12160. eCollection 2020 Nov.
Čechová A, Altassan R, Borgel D, Bruneel A, Correia J, Girard M, Harroche A, Kiec-Wilk B, Mohnike K, Pascreau T, Pawliński Ł, Radenkovic S, Vuillaumier-Barrot S, Aldamiz-Echevarria L, Couce ML, Martins EG, Quelhas D, Morava E, de Lonlay P, Witters P, Honzík T. Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation. J Inherit Metab Dis. 2020 Jul;43(4):671-693. doi: 10.1002/jimd.12241. Epub 2020 Apr 21.
Witters P, Tahata S, Barone R, Õunap K, Salvarinova R, Grønborg S, Hoganson G, Scaglia F, Lewis AM, Mori M, Sykut-Cegielska J, Edmondson A, He M, Morava E. Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG. Genet Med. 2020 Jun;22(6):1102-1107. doi: 10.1038/s41436-020-0767-8. Epub 2020 Feb 27.
Vaes L, Tiller GE, Pérez B, Boyer SW, Berry SA, Sarafoglou K, Morava E. PMM2-CDG caused by uniparental disomy: Case report and literature review. JIMD Rep. 2020 Apr 28;54(1):16-21. doi: 10.1002/jmd2.12122. eCollection 2020 Jul.
Zilmer M, Edmondson AC, Khetarpal SA, Alesi V, Zaki MS, Rostasy K, Madsen CG, Lepri FR, Sinibaldi L, Cusmai R, Novelli A, Issa MY, Fenger CD, Abou Jamra R, Reutter H, Briuglia S, Agolini E, Hansen L, Petäjä-Repo UE, Hintze J, Raymond KM, Liedtke K, Stanley V, Musaev D, Gleeson JG, Vitali C, O'Brien WT, Gardella E, Rubboli G, Rader DJ, Schjoldager KT, Møller RS. Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function. Brain. 2020 Apr 1;143(4):1114-1126. doi: 10.1093/brain/awaa063.
Verheijen J, Wong SY, Rowe JH, Raymond K, Stoddard J, Delmonte OM, Bosticardo M, Dobbs K, Niemela J, Calzoni E, Pai SY, Choi U, Yamazaki Y, Comeau AM, Janssen E, Henderson L, Hazen M, Berry G, Rosenzweig SD, Aldhekri HH, He M, Notarangelo LD, Morava E. Defining a new immune deficiency syndrome: MAN2B2-CDG. J Allergy Clin Immunol. 2020 Mar;145(3):1008-1011. doi: 10.1016/j.jaci.2019.11.016. Epub 2019 Nov 24.
Verheijen J, Tahata S, Kozicz T, Witters P, Morava E. Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update. Genet Med. 2020 Feb;22(2):268–279. doi: 10.1038/s41436-019-0647-2. Epub 2019 Sep 19. PMID: 31534212.
Moravej H, Altassan R, Jaeken J, Enns GM, Ellaway C, Balasubramaniam S, De Lonlay P, Coman D, Mercimek-Andrews S, Witters P, Morava E. Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients. JIMD Rep. 2019 Nov 25;51(1):76-81. doi: 10.1002/jmd2.12085. eCollection 2020 Jan.
Iyer S, Sam FS, DiPrimio N, Preston G, Verheijen J, Murthy K, Parton Z, Tsang H, Lao J, Morava E, Perlstein EO. Repurposing the aldose reductase inhibitor and diabetic neuropathy drug epalrestat for the congenital disorder of glycosylation PMM2-CDG. Dis Model Mech. 2019 Nov 11;12(11):dmm040584. doi: 10.1242/dmm.040584.
Barber AT, Davis SD, Ferkol TW, Shapiro AJ, Atkinson J, Sagel SD, Dell SD, Olivier K, Milla C, Rosenfeld M, Li L, Lin FC, Sullivan KM, Capps NA, Zariwala MA, Knowles MR, Leigh MW; Genetic Disorders of Mucociliary Clearance Consortium (GDMCC).. The Association of Neonatal Respiratory Distress With Ciliary Ultrastructure and Genotype in Primary Ciliary Dyskinesia. Pediatr Pulmonol.. Pediatr Pulmonol. 2025 May;60(5):e71091. doi: 10.1002/ppul.71091.
Burns G, Kauffman C, Manion M, Pai RA, Milla C, O'Connor MG, Shapiro AJ, Bjornson-Pennell H.. Feasibility of Machine Learning Analysis for the Identification of Patients with Possible Primary Ciliary Dyskinesia. . medRxiv [Preprint]. 2025 Apr 20:2025.04.18.25326065. doi: 10.1101/2025.04.18.25326065.
Eisenhuth F, Agbonze JE, Groh AMR, Klostranec JM, Rudko DA, Stratton JA, Shapiro AJ. Age-related cerebral ventriculomegaly occurs in patients with primary ciliary dyskinesia. Fluids Barriers CNS. 2025 Jan 31;22(1):12. doi: 10.1186/s12987-024-00614-9. PMID: 39891273; PMCID: PMC11783799.
Primary ciliary dyskinesia (PCD) is a genetic condition in which mucociliary clearance of the lungs is impaired, leading to accumulation of harmful particles and pathogens trapped within mucus. Although PCD is known to affect the respiratory and reproductive systems, less is known about its impact on the central nervous system.
In this study, researchers investigated cerebral ventriculomegaly (enlarged brain ventricles) in patients with PCD. The team analyzed computed tomography sinus images from 33 patients with PCD and 64 healthy control subjects to assess ventricular size.
Findings suggest that patients with PCD may have unrecognized, mild ventriculomegaly which correlates with aging. This ventriculomegaly may be caused by ependymal ciliary dysfunction. Authors note that further study is required to determine causality and whether ventricular enlargement contributes to neuropsychiatric, neurological, or other factors in PCD.
Gardner RA, Ferkol TW, Davis SD, Rosenfeld M, Sagel SD, Dell SD, Milla CE, Li L, Lin FC, Sullivan KM, Zariwala MA, Knowles MR, Leigh MW. Therapies Used by Children With Primary Ciliary Dyskinesia: A Natural History Study. Pediatr Pulmonol. 2025 Jan;60(1):e27412. doi: 10.1002/ppul.27412. Epub 2024 Nov 22. PMID: 39575633; PMCID: PMC11750599.
Primary ciliary dyskinesia (PCD) is a genetic condition in which mucociliary clearance of the lungs is impaired, leading to accumulation of harmful particles and pathogens trapped within mucus. Since management of PCD has not been closely evaluated, most of what is known about therapies relies on patient observation alone or extrapolated from other diseases. The goal of this study was to understand which therapies were commonly used and determine factors that influenced treatment choices.
In this natural history study, researchers investigated therapies used by children with PCD. The team followed 137 pediatric subjects over the course of 13 years, recording and categorizing therapies at 897 annual visits. Analysis techniques were used to reveal trends in therapy prevalence. Results show that more therapies were reported by older participants and those with inner dynein arm and microtubular disorganization defects, likely due to disease progression and severity. Antibiotics were the most reported treatment. Inhaled medications, including inhaled corticosteroids, were more frequently used as participants grew older, despite limited evidence supporting their effectiveness.
Authors note that a wide range of therapies are used in PCD without disease-specific studies defining benefits and risks, underscoring the need for well-designed clinical trials to establish effective, evidence-based treatment strategies.
Despotes KA, Davis SD. Added complexity to genotype-phenotype relationships in primary ciliary dyskinesia: TAS2R38 as a gene modifier. Thorax. 2024 Nov 14;79(12):1109-1111. doi: 10.1136/thorax-2024-222333.
Kinghorn B, Rosenfeld M, Sullivan E, Onchiri FM, Brown MD, Szczesniak R, Ferkol TW, Sagel SD, Dell SD, Milla C, Shapiro AJ, Sullivan KM, Zariwala MA, Pittman JE, Knowles MR, Davis SD, Leigh MW.. Comparison of Longitudinal Outcomes in Children with Primary Ciliary Dyskinesia and Cystic Fibrosis. Ann Am Thorac Soc.. Ann Am Thorac Soc. 2024 Dec;21(12):1723-1732. doi: 10.1513/AnnalsATS.202311-1008OC.
Beaman MM, Yin W, Smith AJ, Sears PR, Leigh MW, Ferkol TW, Kearney B, Olivier KN, Kimple AJ, Clarke S, Huggins E, Nading E, Jung SH, Iyengar AK, Zou X, Dang H, Barrera A, Majoros WH, Rehder CW, Reddy TE, Ostrowski LE, Allen AS, Knowles MR, Zariwala MA, Crawford GE. Promoter Deletion Leading to Allele Specific Expression in a Genetically Unsolved Case of Primary Ciliary Dyskinesia. Am J Med Genet A. 2024 Oct 4:e63880. doi: 10.1002/ajmg.a.63880. Epub ahead of print. PMID: 39364610.
Primary ciliary dyskinesia (PCD) is a genetic condition in which mucociliary clearance of the lungs is impaired, leading to accumulation of harmful particles and pathogens trapped within mucus. Variation in the non-coding genome can sometimes cause genetic diseases like PCD. However, it can be challenging to predict whether these variants will lead to disease.
In this study, researchers identified a pathogenic non-coding variant in a genetically unsolved case of PCD. The team used complementary RNA sequencing and targeted long-read DNA sequencing approaches to uncover a non-coding deletion in the 5’ untranslated region of the SPAG1 gene in a patient with PCD.
Results highlight the importance of investigating the non-coding genome in patients with “missing” disease-causing variants. Authors note that both RNA and long-read DNA sequencing can be used to identify pathogenic non-coding variants in patients with unexplained genetic diseases.
Wee WB, Gatt D, Seidl E, Santyr G, To T, Dell SD. Estimates of primary ciliary dyskinesia prevalence: a scoping review. ERJ Open Res. 2024 Aug 5;10(4):00989-2023. doi: 10.1183/23120541.00989-2023. PMID: 39104959; PMCID: PMC11299005.
Primary ciliary dyskinesia (PCD) is an inherited multisystem disease involving dysfunctional motile cilia that can impact mucociliary clearance, fertility, and organogenesis. Although PCD is considered the second-most common inherited airway disease after cystic fibrosis, it is not well-recognized globally due to its nonspecific clinical features and the lack of gold standard diagnostic testing.
In this article, the authors conducted a scoping review (using PRISMA-ScR methodology) of the current PCD literature to better understand the global prevalence of PCD. Authors also identify key considerations of different study designs and inform the reader about the potential unmet health service needs in PCD.
Results found that the current best estimate for PCD global prevalence is one in 7,554, which was based on a genomic approach. Although this estimate is still considered conservative, this finding suggests that PCD is much more prevalent than previously thought and that there is an urgent need for more healthcare policies to accelerate improvements in PCD care, as well as expand services to underserved populations.
Dougherty GW, Ostrowski LE, Nöthe-Menchen T, Raidt J, Schramm A, Olbrich H, Yin W, Sears PR, Dang H, Smith AJ, Beule AG, Hjeij R, Rutjes N, Haarman EG, Maas SM, Ferkol TW, Noone PG, Olivier KN, Bracht DC, Barbry P, Zaragosi LE, Fierville M, Kliesch S, Wohlgemuth K, König J, George S, Loges NT, Ceppe A, Markovetz MR, Luo H, Guo T, Rizk H, Eldesoky T, Dahlke K, Boldt K, Ueffing M, Hill DB, Pang YP, Knowles MR, Zariwala MA, Omran H. Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis. Am J Respir Crit Care Med. 2024 Jul 1;210(1):63-76. doi: 10.1164/rccm.202308-1370OC. PMID: 38626355; PMCID: PMC11197063.
Bronchiectasis is a progressive disorder in which the bronchi (air passages within the lungs that diverge from the windpipe) are permanently dilated and irreversibly scarred. Chronic respiratory disorders—including cystic fibrosis, primary ciliary dyskinesia, and primary immunodeficiency disorders—characterized by bronchiectasis have underlying genetic or environmental causes. However, most cases of bronchiectasis have unknown causes.
In this study, researchers identified a new genetic cause in unsolved cases of bronchiectasis. The team performed next-generation sequencing to explore possible genetic defects in individuals with chronic respiratory symptoms who were not suspected to have cystic fibrosis or primary ciliary dyskinesia based on previous genetic testing.
Results revealed disease-causing variants in the WFDC2 gene in 11 individuals presenting with a unique and severe respiratory disorder characterized by bronchiectasis in all lung fields, chronic rhinosinusitis, and lung infection. This new cause of chronic destructive airway disease results from deficiency of the secreted WFDC2 protein. Authors note that the identification of this disease—which can be diagnosed with a commercially available blood test and genetic testing—adds to our understanding of the causes of bronchiectasis and may lead to improved treatment.
Despotes KA, Zariwala MA, Davis SD, Ferkol TW. Primary Ciliary Dyskinesia: A Clinical Review. Cells. 2024 Jun 4;13(11):974. doi: 10.3390/cells13110974.
Wee WB, Kinghorn B, Davis SD, Ferkol TW, Shapiro AJ. Primary Ciliary Dyskinesia. Pediatrics. 2024 Jun 1;153(6):e2023063064. doi: 10.1542/peds.2023-063064. PMID: 38695103; PMCID: PMC11153322.
Primary ciliary dyskinesia (PCD) is an inherited condition in which mucociliary clearance of the lungs is impaired, leading to accumulation of harmful particles and pathogens trapped within mucus. In the past two decades, research and international collaborations have led to a better understanding of PCD. However, PCD is still not well-known in clinical settings, with only a fraction of patients receiving an accurate diagnosis.
In this review paper, authors describe the latest advancements in PCD research. Topics include the range of clinical manifestations, cutting-edge diagnostic practices, new genotype-phenotype associations, and the latest management techniques for individuals with PCD.
Authors note that sharing these advancements will have important clinical impacts, including improved disease recognition, diagnostic testing, and management. Additionally, increased awareness of PCD could help boost enrollment in upcoming clinical trials for new therapies.
Kaspy KR, Dell SD, Davis SD, Ferkol TW, Rosenfeld M, Sagel SD, Milla C, Olivier KN, Barber AT, Wee W, Lin FC, Li L, Rampakakis E, Zariwala MA, Knowles MR, Leigh MW, Shapiro AJ. Situs Ambiguus Is Associated With Adverse Clinical Outcomes in Children With Primary Ciliary Dyskinesia. Chest. 2024 May;165(5):1070-1081. doi: 10.1016/j.chest.2023.12.005. Epub 2023 Dec 9. PMID: 38072392.
Primary ciliary dyskinesia (PCD) is a genetic disorder in which mucociliary clearance of the lungs is impaired. While most individuals with PCD have normal arrangement of organs in the abdomen and chest (situs solitus), some present with situs ambiguus (abnormal arrangement) or situs inversus totalis (mirror image of normal arrangement).
In this study, researchers compared the clinical outcomes of children with PCD and situs ambiguus to those with situs solitus or situs inversus totalis. The team categorized 397 participants with PCD aged 21 years or younger into situs groups, then evaluated markers of disease severity.
Results show that children with PCD and situs ambiguus have worse nutritional and pulmonary outcomes with more hospitalizations for acute respiratory illnesses than those with situs solitus or situs inversus totalis combined. Authors also note that these outcomes are associated with cardiovascular malformations requiring cardiac surgery, splenic anomalies, or both.
Dodd DO, Mechaussier S, Yeyati PL, McPhie F, Anderson JR, Khoo CJ, Shoemark A, Gupta DK, Attard T, Zariwala MA, Legendre M, Bracht D, Wallmeier J, Gui M, Fassad MR, Parry DA, Tennant PA, Meynert A, Wheway G, Fares-Taie L, Black HA, Mitri-Frangieh R, Faucon C, Kaplan J, Patel M, McKie L, Megaw R, Gatsogiannis C, Mohamed MA, Aitken S, Gautier P, Reinholt FR, Hirst RA, O'Callaghan C, Heimdal K, Bottier M, Escudier E, Crowley S, Descartes M, Jabs EW, Kenia P, Amiel J, Bacci GM, Calogero C, Palazzo V, Tiberi L, Blümlein U, Rogers A, Wambach JA, Wegner DJ, Fulton AB, Kenna M, Rosenfeld M, Holm IA, Quigley A, Hall EA, Murphy LC, Cassidy DM, von Kriegsheim A; Scottish Genomes Partnership16; Genomics England Research Consortium45; Undiagnosed Diseases Network46; Papon JF, Pasquier L, Murris MS, Chalmers JD, Hogg C, Macleod KA, Urquhart DS, Unger S, Aitman TJ, Amselem S, Leigh MW, Knowles MR, Omran H, Mitchison HM, Brown A, Marsh JA, Welburn JPI, Ti SC, Horani A, Rozet JM, Perrault I, Mill P. Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules. Science. 2024 Apr 26;384(6694):eadf5489. doi: 10.1126/science.adf5489. Epub 2024 Apr 26.
Gardner RA, Sagel SD, Knowles MR, Ferkol TW, Davis SD, Leigh MW, Zariwala MA. Decoding negative genetic panels in primary ciliary dyskinesia. Pediatr Pulmonol. 2024 Mar;59(3):784-787. doi: 10.1002/ppul.26790. Epub 2023 Dec 5.
Macaluso M, Rothenberg ME, Ferkol T, Kuhnell P, Kaminski HJ, Kimberlin DW, Benatar M, Chehade M; Principal Investigators of the Rare Diseases Clinical Research Network – Cycle 4. Impact of the COVID-19 Pandemic on People Living With Rare Diseases and Their Families: Results of a National Survey. JMIR Public Health Surveill. 2024 Feb 14;10:e48430. doi: 10.2196/48430.
Kim S, Li L, Lin FC, Stack T, Lamb MM, Mohammad I, Norris M, Klatt-Cromwell C, Thorp BD, Ebert CS Jr, Masters D, Senior BA, Askin FB, Kimple AJ. Histologic characterization of primary ciliary dyskinesia chronic rhinosinusitis. Int Forum Allergy Rhinol. 2023 Nov 23. doi: 10.1002/alr.23303. Epub ahead of print. PMID: 37997295
Primary ciliary dyskinesia (PCD) is an inherited condition in which mucociliary clearance of the lungs is impaired, leading to accumulation of harmful particles and pathogens trapped within mucus. In addition to lung disease, this results in chronic rhinosinusitis, where the lining of the sinuses becomes swollen, creates extra mucus, and interferes with drainage.
In this study, researchers characterized the histologic change (microscopic changes in tissues) of PCD-related chronic rhinosinusitis (PCD-CRS) in individuals with PCD who underwent sinus surgery. The team compared tissue samples from patients with PCD-CRS to those with cystic fibrosis-related chronic rhinosinusitis (CF-CRS), routine chronic rhinosinusitis without nasal polyps, and healthy controls.
While sinus disease is generally mediated by eosinophils (a specific white blood cell) in PCD-CRS, neutrophils were the dominant immune cell in sinus tissue, similar to CF-CRS. As targeted therapies become available for CRS, understanding the pathogenesis of PCD-CRS becomes increasingly important.
Stack TJ, Norris M, Mohammad I, Thorp BD, Klatt-Cromwell C, Ebert CS Jr, Senior BA, Kimple AJ. Response to letter to the editor regarding "Sinonasal quality of life in primary ciliary dyskinesia". Int Forum Allergy Rhinol. 2023 Nov 8. doi: 10.1002/alr.23297. Online ahead of print.
Ringshausen FC, Shapiro AJ, Nielsen KG, Mazurek H, Pifferi M, Donn KH, van der Eerden MM, Loebinger MR, Zariwala MA, Leigh MW, Knowles MR, Ferkol TW; CLEAN-PCD investigators and study team. Safety and efficacy of the epithelial sodium channel blocker idrevloride in people with primary ciliary dyskinesia (CLEAN-PCD): a multinational, phase 2, randomised, double-blind, placebo-controlled crossover trial. Lancet Respir Med. 2023 Aug 31:S2213-2600(23)00226-6. doi: 10.1016/S2213-2600(23)00226-6. Online ahead of print.
Chaskes MB, Lopez EM, Kong KA, Ebert CS Jr, Senior BA, Thorp BD, Kimple AJ. Primary ciliary dyskinesia: An update on contemporary diagnosis. Int Forum Allergy Rhinol. 2023 Aug 11. doi: 10.1002/alr.23254. Epub ahead of print. PMID: 37565263
Primary ciliary dyskinesia (PCD) is an inherited condition in which mucociliary clearance of the lungs is impaired. Symptoms include chronic sinusitis, frequent respiratory and middle ear infections, hearing loss, chronic cough, severe lung damage, and bronchiectasis (irreversible scarring and dilation of the bronchi).
Individuals with PCD often receive a delayed diagnosis due to multiple factors, including the commonality of symptoms, variability of severity, number of clinicians involved in their care, limitations of diagnostic tests, and lack of standards. Both diagnosed and undiagnosed individuals with PCD require frequent care of the ear, nose, and throat (ENT). However, there is limited published guidance for the proper diagnosis of PCD.
This clinical letter for ENT clinicians educates ENTs about modern diagnostic criteria and considerations through two cases: a new diagnosis in an adult and a misdiagnosis of PCD as a child that was carried into adulthood.
Hunter-Schouela J, Geraghty MT, Hegele RA, Dyment DA, St Pierre D, Richer J, Sheffield H, Zariwala MA, Knowles MR, Lehman A, Dell S, Shapiro AJ, Kovesi TA. First reports of primary ciliary dyskinesia caused by a shared DNAH11 allele in Canadian Inuit. Pediatr Pulmonol. 2023 Jul;58(7):1942-1949. doi: 10.1002/ppul.26414. Epub 2023 Apr 23.
Stack T, Norris M, Kim S, Lamb M, Zeatoun A, Mohammad I, Worden C, Thorp BD, Klatt-Cromwell C, Ebert CS Jr, Senior BA, Kimple AJ. Sinonasal quality of life in primary ciliary dyskinesia. Int Forum Allergy Rhinol. 2023 May 19. doi: 10.1002/alr.23180. Online ahead of print.
Beydon N, Kouis P, Marthin JK, Latzin P, Colas M, Davis SD, Haarman E, Harris AL, Hogg C, Kilbride E, Kuehni CE, Marangu D, Nielsen KG, Pendergrast C, Robinson P, Rumman N, Rutter M, Walker WT, Ferkol T, Lucas JS. Nasal nitric oxide measurement in children for the diagnosis of primary ciliary dyskinesia: European Respiratory Society technical standard. Eur Respir J. 2023 Apr 20;61(4):2202031. doi: 10.1183/13993003.02031-2022. Print 2023 Apr.
Kinghorn B, Rosenfeld M, Sullivan E, Onchiri F, Ferkol TW, Sagel SD, Dell SD, Milla C, Shapiro AJ, Sullivan KM, Zariwala MA, Pittman JE, Mollica F, Tiddens HAWM, Kemner-van de Corput M, Knowles MR, Davis SD, Leigh MW. Airway Disease in Children with Primary Ciliary Dyskinesia: Impact of Ciliary Ultrastructure Defect and Genotype. Ann Am Thorac Soc. 2023 Apr;20(4):539-547. doi: 10.1513/AnnalsATS.202206-524OC.
Barber AT, Shapiro AJ, Davis SD, Ferkol TW, Atkinson JJ, Sagel SD, Dell SD, Olivier KN, Milla CE, Rosenfeld M, Li L, Lin FC, Sullivan KM, Capps NA, Zariwala MA, Knowles MR, Leigh MW. Laterality Defects in Primary Ciliary Dyskinesia: Relationship to Ultrastructural Defect or Genotype. Ann Am Thorac Soc. 2023 Mar;20(3):397-405. doi: 10.1513/AnnalsATS.202206-487OC. PMID: 36342963; PMCID: PMC9993158.
Primary ciliary dyskinesia (PCD) is an inherited disorder which affects the movement of tiny hair-like structures on body cells known as cilia, impairing mucociliary clearance of the lungs. Approximately 50 percent of PCD patients have a laterality defect (right-left placement of organs in the chest and abdomen) attributable to impaired ciliary motility in the early embryo. The association between abnormalities in organ laterality and the PCD-associated defect of ciliary ultrastructure (fine, detailed structure) or genotype is not well understood.
In this study, researchers investigated the association between presence and/or type of laterality abnormality and ciliary ultrastructural defect or genotype in PCD. First, the team grouped 559 participants with PCD based on ciliary ultrastructural defect or genotype. Next, researchers analyzed the data to evaluate the association of ciliary ultrastructural defect or genotype and likelihood of a laterality abnormality.
Results show that in patients with PCD, risk of a laterality abnormality differs by ciliary ultrastructural defect. Authors note that further research is needed to understand the pathophysiologic mechanisms underlying these differences.
Sagel SD, Kupfer O, Wagner BD, Davis SD, Dell SD, Ferkol TW, Hoppe JE, Rosenfeld M, Sullivan KM, Tiddens HAWM, Knowles MR, Leigh MW. Airway Inflammation in Children with Primary Ciliary Dyskinesia. Ann Am Thorac Soc. 2023 Jan;20(1):67-74. doi: 10.1513/AnnalsATS.202204-314OC. PMID: 35984413; PMCID: PMC9819265.
Primary ciliary dyskinesia (PCD) is an inherited condition in which mucociliary clearance of the lungs is impaired. In this disorder, cilia (hairlike structures) lining the airway, sinuses, and middle ears have defective movements, leading to accumulation of harmful particles and pathogens trapped within mucus. Currently, not much is known about the role of airway inflammation in the development of PCD in children. In this study, researchers investigated the relationships between sputum (mucus) inflammation measurements, age, lung function, bronchiectasis, airway infection, and ultrastructural defects in children with PCD. The team collected spontaneously expectorated sputum from clinically stable children and adolescents with PCD ages six years and older. Next, the team correlated sputum protease and inflammatory cytokine concentrations with age, lung function, and chest computed tomography measures of structural lung disease. Results show that in this multicenter cohort of pediatric patients with PCD, elevated concentrations of sputum proteases and cytokines were associated with impaired lung function and structural damage as determined by chest computed tomography. These results establish an important linkage between airway inflammation and lung disease in PCD. Authors note that these findings also suggest sputum inflammatory measurements could serve as biomarkers in PCD and could be used to assess the efficacy of anti-inflammatory therapies.
Shapiro AJ, Sillon G, D'Agostino D, Baret L, López-Giráldez F, Mane S, Leigh MW, Davis SD, Knowles MR, Zariwala MA. HYDIN Variants Are a Common Cause of Primary Ciliary Dyskinesia in French Canadians. Ann Am Thorac. 2023 Jan;20(1):140-144. doi: 10.1513/AnnalsATS.202203-253RL. PMID: 36112114; PMCID: PMC9819264.
Primary ciliary dyskinesia (PCD) is a genetic disorder in which mucociliary clearance of the lungs is impaired. In the past two decades, more than 50 PCD-related genes have been discovered. However, most commercial genetic panels do not include variant analysis of the large, complex PCD gene HYDIN. In this letter to the editor, researchers discuss a study of 28 patients in 21 families with probable but undiagnosed PCD from the PCD clinic at McGill University Health Centre in Montreal, Quebec, Canada. To investigate whether HYDIN played a role in these unsolved cases, the team utilized whole-exome sequencing and next-generation sequencing analyses. Results show that pathogenic variants in HYDIN aided diagnosis in six of 21 families with previously unsolved PCD. These findings show that HYDIN variants are responsible for a large percentage of PCD in Quebec. Although it is not clear if increased HYDIN prevalence will be observed in populations outside of Quebec, authors state that transitioning to commercial panels that analyze HYDIN seems critical to accurately diagnose patients with PCD.
Wee WB, Leigh MW, Davis SD, Rosenfeld M, Sullivan KM, Sawras MG, Ferkol TW, Knowles MR, Milla C, Sagel SD, Zariwala MA, Pullenayegum E, Dell SD. Association of Neonatal Hospital Length of Stay with Lung Function in Primary Ciliary Dyskinesia. Ann Am Thorac Soc. 2022 Nov;19(11):1865-1870. doi: 10.1513/AnnalsATS.202202-116OC. PMID: 35657736.
Shapiro AJ, Stonebraker JR, Knowles MR, Zariwala MA. A Deep Intronic, Pathogenic Variant in DNAH11 Causes Primary Ciliary Dyskinesia. Am J Respir Cell Mol Biol. 2022 Oct;67(4):511-514. doi: 10.1165/rcmb.2022-0176LE.
Wee WB, Kaspy KR, Sawras MG, Knowles MR, Zariwala MA, Leigh MW, Dell SD, Shapiro AJ. Going beyond the chest X-ray: Investigating laterality defects in primary ciliary dyskinesia. Pediatr Pulmonol. 2022 May;57(5):1318-1324. doi: 10.1002/ppul.25853. Epub 2022 Feb 21. PMID: 35122416.
Costain G, Liu Z, Mennella V, Radicioni G, Goczi AN, Albulescu A, Walker S, Ngan B, Manson D, Vali R, Khan M, Palaniyar N, Hill DB, Hall DA, Marshall CR, Knowles M, Zariwala MA, Kesimer M, Dell SD. Hereditary Mucin Deficiency Caused by Biallelic Loss of Function of MUC5B. Am J Respir Crit Care Med. 2022 Apr 1;205(7):761-768. doi: 10.1164/rccm.202106-1456OC. PMID: 35023825.
Smith AJ, Bustamante-Marin XM, Yin W, Sears PR, Herring LE, Dicheva NN, López-Giráldez F, Mane S, Tarran R, Leigh MW, Knowles MR, Zariwala MA, Ostrowski LE. The role of SPAG1 in the assembly of axonemal dyneins in human airway epithelia. J Cell Sci. 2022 Mar 15;135(6):jcs259512. doi: 10.1242/jcs.259512. Epub 2022 Mar 31.
Zawawi F, Shapiro AJ, Dell S, Wolter NE, Marchica CL, Knowles MR, Zariwala MA, Leigh MW, Smith M, Gajardo P, Daniel SJ. Otolaryngology Manifestations of Primary Ciliary Dyskinesia: A Multicenter Study. Otolaryngol Head Neck Surg. 2022 Mar;166(3):540-547. doi: 10.1177/01945998211019320. Epub 2021 Jun 22.
Ostrowski LE, Yin W, Smith AJ, Sears PR, Bustamante-Marin XM, Dang H, Hildebrandt F, Daniels LA, Capps NA, Sullivan KM, Leigh MW, Zariwala MA, Knowles MR Expression of a Truncated Form of ODAD1 Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype. Expression of a Truncated Form of ODAD1 Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype. Int J Mol Sci. 2022 Feb 3;23(3):1753. doi: 10.3390/ijms23031753. PMID: 35163670; PMCID: PMC8835943.
Barber AT, Davis SD, Boutros H, Zariwala M, Knowles MR, Leigh MW. Use caution interpreting nasal nitric oxide – overlap in primary ciliary dyskinesia and primary immunodeficiency. Pediatr Pulmonol. 2021 Sep 2. doi: 10.1002/ppul.25636. Online ahead of print.
Brennan SK, Ferkol TW, Davis SD. Emerging Genotype-Phenotype Relationships in Primary Ciliary Dyskinesia. Int J Mol Sci. 2021 Jul 31;22(15):8272. doi: 10.3390/ijms22158272.
Shapiro AJ, Kaspy K, Daniels MLA, Stonebraker JR, Nguyen VH, Joyal L, Knowles MR, Zariwala MA. Autosomal dominant variants in FOXJ1 causing primary ciliary dyskinesia in two patients with obstructive hydrocephalus. Mol Genet Genomic Med. 2021 Jul;9(7):e1726. doi: 10.1002/mgg3.1726. Epub 2021 Jun 15.
Zhao Y, Pinskey J, Lin J, Yin W, Sears PR, Daniels LA, Zariwala MA, Knowles MR, Ostrowski LE, Nicastro D. Structural insights into the cause of human RSPH4A primary ciliary dyskinesia. Mol Biol Cell. 2021 Jun 1;32(12):1202-1209. doi: 10.1091/mbc.E20-12-0806. Epub 2021 Apr 14.
Brennan SK, Molter D, Menezes M, Dunsky K, Leonard D, Lieu J, Hirose K, Hazan G, Horani A, Ferkol T, Brody SL. Implementation of a screening tool for primary ciliary dyskinesia (PCD) in a pediatric otolaryngology clinic. Int J Pediatr Otorhinolaryngol. 2021 Mar;142:110586. doi: 10.1016/j.ijporl.2020.110586. Epub 2020 Dec 31.
Horani A, Ferkol TW. Understanding Primary Ciliary Dyskinesia and Other Ciliopathies. J Pediatr. 2021 Mar;230:15-22.e1. doi: 10.1016/j.jpeds.2020.11.040. Epub 2020 Nov 23.
Coverstone AM, Ferkol TW. Early Diagnosis and Intervention in Cystic Fibrosis: Imagining the Unimaginable. Front Pediatr. 2021 Jan 11;8:608821. doi: 10.3389/fped.2020.608821. eCollection 2020.
Pappa AK, Sullivan KM, Lopez EM, Adams KN, Zanation AM, Ebert CS Jr, Thorp BD, Senior BA, Leigh MW, Knowles MR, Kimple AJ. Sinus Development and Pneumatization in a Primary Ciliary Dyskinesia Cohort. Am J Rhinol Allergy. 2021 Jan;35(1):72-76. doi: 10.1177/1945892420933175. Epub 2020 Jun 19.
Wallmeier J, Nielsen KG, Kuehni CE, Lucas JS, Leigh MW, Zariwala MA, Omran H. Motile ciliopathies. Nat Rev Dis Primers. 2020 Sep 17;6(1):77. doi: 10.1038/s41572-020-0209-6.
Crowley S, Azevedo I, Boon M, Bush A, Eber E, Haarman E, Karadag B, Kötz K, Leigh M, Moreno-Galdó A, Mussaffi H, Nielsen KG, Omran H, Papon JF, Pohunek P, Priftis K, Rindlisbacher B, Santamaria F, Valiulis A, Witt M, Yiallouros P, Zivkovic Z, Kuehni CE, Lucas JS. Access to medicines for rare diseases: beating the drum for primary ciliary dyskinesia. ERJ Open Res. 2020 Sep 14;6(3):00377-2020. doi: 10.1183/23120541.00377-2020. eCollection 2020 Jul.
Kinghorn B, McNamara S, Genatossio A, Sullivan E, Siegel M, Bauer I, Clem C, Johnson RC, Davis M, Griffiths A, Wheeler W, Johnson K, Davis SD, Leigh MW, Rosenfeld M, Pittman J. Comparison of Multiple Breath Washout and Spirometry in Children with Primary Ciliary Dyskinesia and Cystic Fibrosis and Healthy Controls. Ann Am Thorac Soc. 2020 Sep;17(9):1085-1093. doi: 10.1513/AnnalsATS.201905-375OC.
Bustamante-Marin XM, Horani A, Stoyanova M, Charng WL, Bottier M, Sears PR, Yin WN, Daniels LA, Bowen H, Conrad DF, Knowles MR, Ostrowski LE, Zariwala MA, Dutcher SK. Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia. PLoS Genet. 2020 Aug 7;16(8):e1008691. doi: 10.1371/journal.pgen.1008691. eCollection 2020 Aug.
Shapiro AJ, Davis SD, Leigh MW, Knowles MR, Lavergne V, Ferkol T. Limitations of Nasal Nitric Oxide Testing in Primary Ciliary Dyskinesia. Am J Respir Crit Care Med. 2020 Aug 1;202(3):476-477. doi: 10.1164/rccm.202003-0835LE.
Gaston B, Laguna TA, Noah TL, Hagood J, Voynow J, Ferkol T, Hershenson M, Boyne K, Delecaris A, Ross K, Gozal D, Celedón JC, Abman SH, Moore P, Davis S, Cornfield DN, Murphy T. A proposal for the addressing the needs of the pediatric pulmonary work force. Pediatr Pulmonol. 2020 Aug;55(8):1859-1867. doi: 10.1002/ppul.24856. Epub 2020 Jun 12.
Dutcher SK, Brody SL. HY-DIN' in the Cilia: Discovery of Central Pair-related Mutations in Primary Ciliary Dyskinesia. Am J Respir Cell Mol Biol. 2020 Mar;62(3):281-282. doi: 10.1165/rcmb.2019-0316ED.
Fowler C, Wu UI, Shaffer R, Smith C, Barnhart L, Bryant C, Olivier K, Holland SM. The effects of sildenafil on ciliary beat frequency in patients with pulmonary non-tuberculous mycobacteria disease: phase I/II trial. BMJ Open Respir Res. 2020 Mar;7(1):e000574. doi: 10.1136/bmjresp-2020-000574.
Chivukula RR, Montoro DT, Leung HM, Yang J, Shamseldin HE, Taylor MS, Dougherty GW, Zariwala MA, Carson J, Daniels MLA, Sears PR, Black KE, Hariri LP, Almogarri I, Frenkel EM, Vinarsky V, Omran H, Knowles MR, Tearney GJ, Alkuraya FS, Sabatini DM. A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance. Nat Med. 2020 Feb;26(2):244-251. doi: 10.1038/s41591-019-0730-x. Epub 2020 Jan 20.
Chivukula RR, Montoro DT, Leung HM, Yang J, Shamseldin HE, Taylor MS, Dougherty GW, Zariwala MA, Carson J, Daniels MLA, Sears PR, Black KE, Hariri LP, Almogarri I, Frenkel EM, Vinarsky V, Omran H, Knowles MR, Tearney GJ, Alkuraya FS, Sabatini DM. Author Correction: A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance. Nat Med. 2020 Feb;26(2):300. doi: 10.1038/s41591-020-0773-z.
Shapiro AJ, Dell SD, Gaston B, O'Connor M, Marozkina N, Manion M, Hazucha MJ, Leigh MW. Nasal Nitric Oxide Measurement in Primary Ciliary Dyskinesia. A Technical Paper on Standardized Testing Protocols. Ann Am Thorac Soc. 2020 Feb;17(2):e1-e12. doi: 10.1513/AnnalsATS.201904-347OT.
Lucas JS, Davis SD, Omran H, Shoemark A. Primary ciliary dyskinesia in the genomics age. Lancet Respir Med. 2020 Feb;8(2):202-216. doi: 10.1016/S2213-2600(19)30374-1. Epub 2019 Oct 14.
Sergeev V, Chou FY, Lam GY, Hamilton CM, Wilcox PG, Quon BS. The Extrapulmonary Effects of Cystic Fibrosis Transmembrane Conductance Regulator Modulators in Cystic Fibrosis. Ann Am Thorac Soc. 2020 Feb;17(2):147-154. doi: 10.1513/AnnalsATS.201909-671CME.
Shapiro AJ, Ferkol TW, Manion M, Leigh MW, Davis SD, Knowles MR. High-Speed Videomicroscopy Analysis Presents Limitations in Diagnosis of Primary Ciliary Dyskinesia. Am J Respir Crit Care Med. 2020 Jan 1;201(1):122-123. doi: 10.1164/rccm.201907-1366LE.
Vece TJ, Sagel SD, Zariwala MA, Sullivan KM, Burns KA, Dutcher SK, Yusupov R, Leigh MW, Knowles MR. Cytoplasmic "ciliary inclusions" in isolation are not sufficient for the diagnosis of primary ciliary dyskinesia. Pediatr Pulmonol. 2020 Jan;55(1):130-135. doi: 10.1002/ppul.24528. Epub 2019 Sep 23.
Bustamante-Marin XM, Shapiro A, Sears PR, Charng WL, Conrad DF, Leigh MW, Knowles MR, Ostrowski LE, Zariwala MA. Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia. J Hum Genet. 2020 Jan;65(2):175-180. doi: 10.1038/s10038-019-0686-1. Epub 2019 Oct 21.
Vali R, Ghandourah H, Charron M, Nezhad KV, Omarkhail Y, Khazaee A, Shammas A, Dell SD. Evaluation of the pulmonary radioaerosol mucociliary clearance scan as an adjunctive test for the diagnosis of primary ciliary dyskinesia in children. Pediatr Pulmonol. 2019 Dec;54(12):2021-2027. doi: 10.1002/ppul.24509. Epub 2019 Sep 12.
Behan L, Leigh MW, Dell SD, Quittner AL, Hogg C, Lucas JS. Validation of pediatric health-related quality of life instruments for primary ciliary dyskinesia (QOL-PCD). Pediatr Pulmonol. 2019 Dec;54(12):2011-2020. doi: 10.1002/ppul.24507. Epub 2019 Sep 1.
Wu UI, Olivier KN, Kuhns DB, Fink DL, Sampaio EP, Zelazny AM, Shallom SJ, Marciano BE, Lionakis MS, Holland SM. Patients with Idiopathic Pulmonary Nontuberculous Mycobacterial Disease Have Normal Th1/Th2 Cytokine Responses but Diminished Th17 Cytokine and Enhanced Granulocyte-Macrophage Colony-Stimulating Factor Production. Open Forum Infect Dis. 2019 Nov 28;6(12):ofz484. doi: 10.1093/ofid/ofz484. eCollection 2019 Dec.
Wallmeier J, Frank D, Shoemark A, Nöthe-Menchen T, Cindric S, Olbrich H, Loges NT, Aprea I, Dougherty GW, Pennekamp P, Kaiser T, Mitchison HM, Hogg C, Carr SB, Zariwala MA, Ferkol T, Leigh MW, Davis SD, Atkinson J, Dutcher SK, Knowles MR, Thiele H, Altmüller J, Krenz H, Wöste M, Brentrup A, Ahrens F, Vogelberg C, Morris-Rosendahl DJ, Omran H. De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry. Am J Hum Genet. 2019 Nov 7;105(5):1030-1039. doi: 10.1016/j.ajhg.2019.09.022. Epub 2019 Oct 17.
Shapiro AJ, Leigh MW, Omran H, Lavergne V, Knowles MR. Errors in Methodology Affect Diagnostic Accuracy of High-Speed Videomicroscopy Analysis in Primary Ciliary Dyskinesia. Chest. 2019 Nov;156(5):1032-1033. doi: 10.1016/j.chest.2019.06.021.
Nöthe-Menchen T, Wallmeier J, Pennekamp P, Höben IM, Olbrich H, Loges NT, Raidt J, Dougherty GW, Hjeij R, Dworniczak B, Omran H. Randomization of Left-right Asymmetry and Congenital Heart Defects: The Role of DNAH5 in Humans and Mice. Circ Genom Precis Med. 2019 Oct 22:10.1161/CIRCGEN.119.002686. doi: 10.1161/CIRCGEN.119.002686. Online ahead of print.
Horani A, Brody SL. Frequenting Sequencing: How Genetics Teaches Us Cilia Biology. Am J Respir Cell Mol Biol. 2019 Oct;61(4):403-404. doi: 10.1165/rcmb.2019-0103ED.
Takeda AJ, Maher TJ, Zhang Y, Lanahan SM, Bucklin ML, Compton SR, Tyler PM, Comrie WA, Matsuda M, Olivier KN, Pittaluga S, McElwee JJ, Long Priel DA, Kuhns DB, Williams RL, Mustillo PJ, Wymann MP, Koneti Rao V, Lucas CL. Human PI3Kγ deficiency and its microbiota-dependent mouse model reveal immunodeficiency and tissue immunopathology. Nat Commun. 2019 Sep 25;10(1):4364. doi: 10.1038/s41467-019-12311-5.
Hannah WB, DeBrosse S, Kinghorn B, Strausbaugh S, Aitken ML, Rosenfeld M, Wolf WE, Knowles MR, Zariwala MA. The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia. Mol Genet Genomic Med. 2019 Sep;7(9):e911. doi: 10.1002/mgg3.911. Epub 2019 Aug 1.
Morimoto K, Hijikata M, Zariwala MA, Nykamp K, Inaba A, Guo TC, Yamada H, Truty R, Sasaki Y, Ohta K, Kudoh S, Leigh MW, Knowles MR, Keicho N. Recurring large deletion in DRC1 (CCDC164) identified as causing primary ciliary dyskinesia in two Asian patients. Mol Genet Genomic Med. 2019 Aug;7(8):e838. doi: 10.1002/mgg3.838. Epub 2019 Jul 4.
Ferré EMN, Break TJ, Burbelo PD, Allgäuer M, Kleiner DE, Jin D, Xu Z, Folio LR, Mollura DJ, Swamydas M, Gu W, Hunsberger S, Lee CR, Bondici A, Hoffman KW, Lim JK, Dobbs K, Niemela JE, Fleisher TA, Hsu AP, Snow LN, Darnell DN, Ojaimi S, Cooper MA, Bozzola M, Kleiner GI, Martinez JC, Deterding RR, Kuhns DB, Heller T, Winer KK, Rajan A, Holland SM, Notarangelo LD, Fennelly KP, Olivier KN, Lionakis MS. Lymphocyte-driven regional immunopathology in pneumonitis caused by impaired central immune tolerance. Sci Transl Med. 2019 Jun 5;11(495):eaav5597. doi: 10.1126/scitranslmed.aav5597.
Liou TG, Adler FR, Argel N, Asfour F, Brown PS, Chatfield BA, Daines CL, Durham D, Francis JA, Glover B, Heynekamp T, Hoidal JR, Jensen JL, Keogh R, Kopecky CM, Lechtzin N, Li Y, Lysinger J, Molina O, Nakamura C, Packer KA, Poch KR, Quittner AL, Radford P, Redway AJ, Sagel SD, Sprandel S, Taylor-Cousar JL, Vroom JB, Yoshikawa R, Clancy JP, Elborn JS, Olivier KN, Cox DR. Prospective multicenter randomized patient recruitment and sample collection to enable future measurements of sputum biomarkers of inflammation in an observational study of cystic fibrosis. BMC Med Res Methodol. 2019 Apr 26;19(1):88. doi: 10.1186/s12874-019-0705-0.
Bustamante-Marin XM, Yin WN, Sears PR, Werner ME, Brotslaw EJ, Mitchell BJ, Jania CM, Zeman KL, Rogers TD, Herring LE, Refabért L, Thomas L, Amselem S, Escudier E, Legendre M, Grubb BR, Knowles MR, Zariwala MA, Ostrowski LE. Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance. Am J Hum Genet. 2019 Feb 7;104(2):229-245. doi: 10.1016/j.ajhg.2018.12.009. Epub 2019 Jan 18.
Zysman-Colman ZN, Kaspy KR, Alizadehfar R, NyKamp KR, Zariwala MA, Knowles MR, Vinh DC, Shapiro AJ. Nasal Nitric Oxide in Primary Immunodeficiency and Primary Ciliary Dyskinesia: Helping to Distinguish Between Clinically Similar Diseases. J Clin Immunol. 2019 Feb;39(2):216-224. doi: 10.1007/s10875-019-00613-8. Epub 2019 Mar 26.
O'Connor MG, Griffiths A, Iyer NP, Shapiro AJ, Wilson KC, Thomson CC. Summary for Clinicians: Diagnosis of Primary Ciliary Dyskinesia. Ann Am Thorac Soc. 2019 Feb;16(2):171-174. doi: 10.1513/AnnalsATS.201810-693CME.
Davis SD, Rosenfeld M, Lee HS, Ferkol TW, Sagel SD, Dell SD, Milla C, Pittman JE, Shapiro AJ, Sullivan KM, Nykamp KR, Krischer JP, Zariwala MA, Knowles MR, Leigh MW. Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype. Am J Respir Crit Care Med. 2019 Jan 15;199(2):190-198. doi: 10.1164/rccm.201803-0548OC.
Leigh MW, Horani A, Kinghorn B, O'Connor MG, Zariwala MA, Knowles MR. Primary Ciliary Dyskinesia (PCD): A genetic disorder of motile cilia. Transl Sci Rare Dis. 2019;4(1-2):51-75. doi: 10.3233/TRD-190036. Epub 2019 Jul 4.
Sanders CD, Leigh MW, Chao KC, Weck KE, King I, Wolf WE, Campbell DJ, Knowles MR, Zariwala MA, Shapiro AJ. The prevalence of the defining features of primary ciliary dyskinesia within a cri du chat syndrome cohort. Pediatr Pulmonol. 2018 Nov;53(11):1565-1573. doi: 10.1002/ppul.24159. Epub 2018 Sep 20.
Ghandourah H, Dell SD. Severe disease due to CCDC40 gene variants and the perils of late diagnosis in primary ciliary dyskinesia. BMJ Case Rep. 2018 Sep 12;2018:bcr2018224964. doi: 10.1136/bcr-2018-224964.
Horani A, Ferkol TW. Advances in the Genetics of Primary Ciliary Dyskinesia: Clinical Implications. Chest. 2018 Sep;154(3):645-652. doi: 10.1016/j.chest.2018.05.007. Epub 2018 May 22.
Shapiro AJ, Davis SD, Polineni D, Manion M, Rosenfeld M, Dell SD, Chilvers MA, Ferkol TW, Zariwala MA, Sagel SD, Josephson M, Morgan L, Yilmaz O, Olivier KN, Milla C, Pittman JE, Daniels MLA, Jones MH, Janahi IA, Ware SM, Daniel SJ, Cooper ML, Nogee LM, Anton B, Eastvold T, Ehrne L, Guadagno E, Knowles MR, Leigh MW, Lavergne V; American Thoracic Society Assembly on Pediatrics. Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline. Am J Respir Crit Care Med. 2018 Jun 15;197(12):e24-e39. doi: 10.1164/rccm.201805-0819ST.
Metersky ML, Aksamit TR, Barker A, Choate R, Daley CL, Daniels LA, DiMango A, Eden E, Griffith D, Johnson M, Knowles M, O'Donnell AE, Olivier K, Salathe M, Thomashow B, Tino G, Turino G, Winthrop KL, Mannino D. The Prevalence and Significance of Staphylococcus aureus in Patients with Non-Cystic Fibrosis Bronchiectasis. Ann Am Thorac Soc. 2018 Mar;15(3):365-370. doi: 10.1513/AnnalsATS.201706-426OC.
Horani A, Ustione A, Huang T, Firth AL, Pan J, Gunsten SP, Haspel JA, Piston DW, Brody SL. Establishment of the early cilia preassembly protein complex during motile ciliogenesis. Proc Natl Acad Sci U S A. 2018 Feb 6;115(6):E1221-E1228. doi: 10.1073/pnas.1715915115. Epub 2018 Jan 22.
Rosenfeld M, Ostrowski LE, Zariwala MA. Primary ciliary dyskinesia: keep it on your radar. Thorax. 2018 Feb;73(2):101-102. doi: 10.1136/thoraxjnl-2017-210776. Epub 2017 Nov 13.
Goutaki M, Halbeisen FS, Spycher BD, Maurer E, Belle F, Amirav I, Behan L, Boon M, Carr S, Casaulta C, Clement A, Crowley S, Dell S, Ferkol T, Haarman EG, Karadag B, Knowles M, Koerner-Rettberg C, Leigh MW, Loebinger MR, Mazurek H, Morgan L, Nielsen KG, Phillipsen M, Sagel SD, Santamaria F, Schwerk N, Yiallouros P, Lucas JS, Kuehni CE; PCD Israeli Consortium; Swiss PCD Group; French Reference Centre for Rare Lung Diseases. Growth and nutritional status, and their association with lung function: a study from the international Primary Ciliary Dyskinesia Cohort. Eur Respir J. 2017 Dec 21;50(6):1701659. doi: 10.1183/13993003.01659-2017. Print 2017 Dec.
Deschamp AR, Schornick L, Clem C, Hazucha M, Shapiro AJ, Davis SD. A comparison of nasal nitric oxide measurement modes. Pediatr Pulmonol. 2017 Nov;52(11):1381-1382. doi: 10.1002/ppul.23780. Epub 2017 Aug 16.
Shapiro AJ, Leigh MW. Value of transmission electron microscopy for primary ciliary dyskinesia diagnosis in the era of molecular medicine: Genetic defects with normal and non-diagnostic ciliary ultrastructure. Ultrastruct Pathol. 2017 Nov-Dec;41(6):373-385. doi: 10.1080/01913123.2017.1362088. Epub 2017 Sep 15.
Damseh N, Quercia N, Rumman N, Dell SD, Kim RH. Primary ciliary dyskinesia: mechanisms and management. Appl Clin Genet. 2017 Sep 19;10:67-74. doi: 10.2147/TACG.S127129. eCollection 2017.
Behan L, Leigh MW, Dell SD, Dunn Galvin A, Quittner AL, Lucas JS. Validation of a health-related quality of life instrument for primary ciliary dyskinesia (QOL-PCD). Thorax. 2017 Sep;72(9):832-839. doi: 10.1136/thoraxjnl-2016-209356. Epub 2017 Feb 28.
Kristof AS, Petrof BJ, Hamid Q, Kolb M, Landry JS, MacKenzie A, McCormack FX, Murawski IJ, Moss J, Rauch F, Rosas IO, Shapiro AJ, Smith BM, Thomas DY, Trapnell BC, Young LR, Zariwala MA; ATS Assembly on Respiratory Cell and Molecular Biology. An Official American Thoracic Society Workshop Report: Translational Research in Rare Respiratory Diseases. Ann Am Thorac Soc. 2017 Aug;14(8):1239-1247. doi: 10.1513/AnnalsATS.201705-406WS.
Shapiro AJ, Josephson M, Rosenfeld M, Yilmaz O, Davis SD, Polineni D, Guadagno E, Leigh MW, Lavergne V. Accuracy of Nasal Nitric Oxide Measurement as a Diagnostic Test for Primary Ciliary Dyskinesia. A Systematic Review and Meta-analysis. Ann Am Thorac Soc. 2017 Jul;14(7):1184-1196. doi: 10.1513/AnnalsATS.201701-062SR.
Leigh MW, Knowles MR. Assessment of Ciliary Beat Pattern: Variability in Healthy Control Subjects Has Implications for Use as Test for Primary Ciliary Dyskinesia. Chest. 2017 May;151(5):958-959. doi: 10.1016/j.chest.2016.11.025.
Blackburn K, Bustamante-Marin X, Yin W, Goshe MB, Ostrowski LE. Quantitative Proteomic Analysis of Human Airway Cilia Identifies Previously Uncharacterized Proteins of High Abundance. J Proteome Res. 2017 Apr 7;16(4):1579-1592. doi: 10.1021/acs.jproteome.6b00972. Epub 2017 Mar 27.
Bustamante-Marin XM, Ostrowski LE. Cilia and Mucociliary Clearance. Cold Spring Harb Perspect Biol. 2017 Apr 3;9(4):a028241. doi: 10.1101/cshperspect.a028241.
Boerwinkle C, Marshall JD, Bryant J, Gahl WA, Olivier KN, Gunay-Aygun M. Respiratory manifestations in 38 patients with Alström syndrome. Pediatr Pulmonol. 2017 Apr;52(4):487-493. doi: 10.1002/ppul.23607. Epub 2016 Dec 28.
Lucas JS, Barbato A, Collins SA, Goutaki M, Behan L, Caudri D, Dell S, Eber E, Escudier E, Hirst RA, Hogg C, Jorissen M, Latzin P, Legendre M, Leigh MW, Midulla F, Nielsen KG, Omran H, Papon JF, Pohunek P, Redfern B, Rigau D, Rindlisbacher B, Santamaria F, Shoemark A, Snijders D, Tonia T, Titieni A, Walker WT, Werner C, Bush A, Kuehni CE. European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia. Eur Respir J. 2017 Jan 4;49(1):1601090. doi: 10.1183/13993003.01090-2016. Print 2017 Jan.
Goutaki M, Meier AB, Halbeisen FS, Lucas JS, Dell SD, Maurer E, Casaulta C, Jurca M, Spycher BD, Kuehni CE. Clinical manifestations in primary ciliary dyskinesia: systematic review and meta-analysis. Eur Respir J. 2016 Oct;48(4):1081-1095. doi: 10.1183/13993003.00736-2016. Epub 2016 Aug 4.
Daniels ML, Birchard KR, Lowe JR, Patrone MV, Noone PG, Knowles MR. Enlarged Dural Sac in Idiopathic Bronchiectasis Implicates Heritable Connective Tissue Gene Variants. Ann Am Thorac Soc. 2016 Oct;13(10):1712-1720. doi: 10.1513/AnnalsATS.201603-161OC.
Dell SD, Leigh MW, Lucas JS, Ferkol TW, Knowles MR, Alpern A, Behan L, Morris AM, Hogg C, DunnGalvin A, Quittner AL. Primary Ciliary Dyskinesia: First Health-related Quality-of-Life Measures for Pediatric Patients. Ann Am Thorac Soc. 2016 Oct;13(10):1726-1735. doi: 10.1513/AnnalsATS.201603-198OC.
Knowles MR, Zariwala M, Leigh M. Primary Ciliary Dyskinesia. Clin Chest Med. 2016 Sep;37(3):449-61. doi: 10.1016/j.ccm.2016.04.008. Epub 2016 Jun 30.
Leigh MW, Ferkol TW, Davis SD, Lee HS, Rosenfeld M, Dell SD, Sagel SD, Milla C, Olivier KN, Sullivan KM, Zariwala MA, Pittman JE, Shapiro AJ, Carson JL, Krischer J, Hazucha MJ, Knowles MR. Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents. Ann Am Thorac Soc. 2016 Aug;13(8):1305-13. doi: 10.1513/AnnalsATS.201511-748OC.
Milla CE. The evolving spectrum of ciliopathies and respiratory disease. Curr Opin Pediatr. 2016 Jun;28(3):339-47. doi: 10.1097/MOP.0000000000000358.
Merkel PA, Manion M, Gopal-Srivastava R, Groft S, Jinnah HA, Robertson D, Krischer JP; Rare Diseases Clinical Research Network. The partnership of patient advocacy groups and clinical investigators in the rare diseases clinical research network. Orphanet J Rare Dis. 2016 May 18;11(1):66. doi: 10.1186/s13023-016-0445-8.
Horani A, Ferkol TW, Dutcher SK, Brody SL. Genetics and biology of primary ciliary dyskinesia. Paediatr Respir Rev. 2016 Mar;18:18-24. doi: 10.1016/j.prrv.2015.09.001. Epub 2015 Sep 11.
Shapiro AJ, Zariwala MA, Ferkol T, Davis SD, Sagel SD, Dell SD, Rosenfeld M, Olivier KN, Milla C, Daniel SJ, Kimple AJ, Manion M, Knowles MR, Leigh MW; Genetic Disorders of Mucociliary Clearance Consortium. Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review. Pediatr Pulmonol. 2016 Feb;51(2):115-32. doi: 10.1002/ppul.23304. Epub 2015 Sep 29.
Horani A, Ferkol TW. Primary ciliary dyskinesia and associated sensory ciliopathies. Expert Rev Respir Med. 2016;10(5):569-76. doi: 10.1586/17476348.2016.1165612. Epub 2016 Mar 28.
Szymanski EP, Leung JM, Fowler CJ, Haney C, Hsu AP, Chen F, Duggal P, Oler AJ, McCormack R, Podack E, Drummond RA, Lionakis MS, Browne SK, Prevots DR, Knowles M, Cutting G, Liu X, Devine SE, Fraser CM, Tettelin H, Olivier KN, Holland SM. Pulmonary Nontuberculous Mycobacterial Infection. A Multisystem, Multigenic Disease. Am J Respir Crit Care Med. 2015 Sep 1;192(5):618-28. doi: 10.1164/rccm.201502-0387OC.
Lucas JS, Behan L, Dunn Galvin A, Alpern A, Morris AM, Carroll MP, Knowles MR, Leigh MW, Quittner AL. A quality-of-life measure for adults with primary ciliary dyskinesia: QOL-PCD. Eur Respir J. 2015 Aug;46(2):375-83. doi: 10.1183/09031936.00216214. Epub 2015 May 14.
Pittman JE, Ferkol TW. The Evolution of Cystic Fibrosis Care. Chest. 2015 Aug;148(2):533-542. doi: 10.1378/chest.14-1997.
Marshall CR, Scherer SW, Zariwala MA, Lau L, Paton TA, Stockley T, Jobling RK, Ray PN, Knowles MR; FORGE Canada Consortium, Hall DA, Dell SD, Kim RH. Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia. G3 (Bethesda). 2015 Jul 2;5(8):1775-81. doi: 10.1534/g3.115.019851.
Lobo J, Zariwala MA, Noone PG. Primary ciliary dyskinesia. Semin Respir Crit Care Med. 2015 Apr;36(2):169-79. doi: 10.1055/s-0035-1546748. Epub 2015 Mar 31.
Shapiro AJ, Tolleson-Rinehart S, Zariwala MA, Knowles MR, Leigh MW. The prevalence of clinical features associated with primary ciliary dyskinesia in a heterotaxy population: results of a web-based survey. Cardiol Young. 2015 Apr;25(4):752-9. doi: 10.1017/S1047951114000912. Epub 2014 Jun 6.
Daniels ML, Noone PG. Genetics, diagnosis, and future treatment strategies for primary ciliary dyskinesia. Expert Opin Orphan Drugs. 2015 Mar 1;3(1):31-44. doi: 10.1517/21678707.2015.989212. Epub 2014 Nov 29.
Fedick AM, Jalas C, Treff NR, Knowles MR, Zariwala MA. Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population. Mol Genet Genomic Med. 2015 Mar;3(2):137-42. doi: 10.1002/mgg3.124. Epub 2014 Dec 6.
Davis SD, Ferkol TW, Rosenfeld M, Lee HS, Dell SD, Sagel SD, Milla C, Zariwala MA, Pittman JE, Shapiro AJ, Carson JL, Krischer JP, Hazucha MJ, Cooper ML, Knowles MR, Leigh MW. Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype. Am J Respir Crit Care Med. 2015 Feb 1;191(3):316-24. doi: 10.1164/rccm.201409-1672OC.
Daniels ML, Lowe JR, Roy P, Patrone MV, Conyers JM, Fine JP, Knowles MR, Birchard KR. Standardization and validation of a novel and simple method to assess lumbar dural sac size. Clin Radiol. 2015 Feb;70(2):146-52. doi: 10.1016/j.crad.2014.10.009. Epub 2014 Nov 27.
Lin J, Yin W, Smith MC, Song K, Leigh MW, Zariwala MA, Knowles MR, Ostrowski LE, Nicastro D. Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia. Nat Commun. 2014 Dec 4;5:5727. doi: 10.1038/ncomms6727.
Mullowney T, Manson D, Kim R, Stephens D, Shah V, Dell S. Primary ciliary dyskinesia and neonatal respiratory distress. Pediatrics. 2014 Dec;134(6):1160-6. doi: 10.1542/peds.2014-0808.
Shapiro AJ, Davis SD, Ferkol T, Dell SD, Rosenfeld M, Olivier KN, Sagel SD, Milla C, Zariwala MA, Wolf W, Carson JL, Hazucha MJ, Burns K, Robinson B, Knowles MR, Leigh MW; Genetic Disorders of Mucociliary Clearance Consortium. Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy. Chest. 2014 Nov;146(5):1176-1186. doi: 10.1378/chest.13-1704.
Teves ME, Sears PR, Li W, Zhang Z, Tang W, van Reesema L, Costanzo RM, Davis CW, Knowles MR, Strauss JF 3rd, Zhang Z. Sperm-associated antigen 6 (SPAG6) deficiency and defects in ciliogenesis and cilia function: polarity, density, and beat. PLoS One. 2014 Oct 21;9(10):e107271. doi: 10.1371/journal.pone.0107271. eCollection 2014.
Shapiro AJ, Weck KE, Chao KC, Rosenfeld M, Nygren AO, Knowles MR, Leigh MW, Zariwala MA. Cri du chat syndrome and primary ciliary dyskinesia: a common genetic cause on chromosome 5p. J Pediatr. 2014 Oct;165(4):858-61. doi: 10.1016/j.jpeds.2014.06.048. Epub 2014 Jul 25.
Prevots DR, Adjemian J, Fernandez AG, Knowles MR, Olivier KN. Environmental risks for nontuberculous mycobacteria. Individual exposures and climatic factors in the cystic fibrosis population. Ann Am Thorac Soc. 2014 Sep;11(7):1032-8. doi: 10.1513/AnnalsATS.201404-184OC.
Funkhouser WK 3rd, Niethammer M, Carson JL, Burns KA, Knowles MR, Leigh MW, Zariwala MA, Funkhouser WK Jr. A new tool improves diagnostic test performance for transmission em evaluation of axonemal dynein arms. Ultrastruct Pathol. 2014 Aug;38(4):248-55. doi: 10.3109/01913123.2013.815081. Epub 2013 Aug 19.
Knowles MR, Ostrowski LE, Leigh MW, Sears PR, Davis SD, Wolf WE, Hazucha MJ, Carson JL, Olivier KN, Sagel SD, Rosenfeld M, Ferkol TW, Dell SD, Milla CE, Randell SH, Yin W, Sannuti A, Metjian HM, Noone PG, Noone PJ, Olson CA, Patrone MV, Dang H, Lee HS, Hurd TW, Gee HY, Otto EA, Halbritter J, Kohl S, Kircher M, Krischer J, Bamshad MJ, Nickerson DA, Hildebrandt F, Shendure J, Zariwala MA. Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. Am J Respir Crit Care Med. 2014 Mar 15;189(6):707-17. doi: 10.1164/rccm.201311-2047OC.
Kim RH, A Hall D, Cutz E, Knowles MR, Nelligan KA, Nykamp K, Zariwala MA, Dell SD. The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia. Ann Am Thorac Soc. 2014 Mar;11(3):351-9. doi: 10.1513/AnnalsATS.201306-194OC.
Horani A, Brody SL, Ferkol TW. Picking up speed: advances in the genetics of primary ciliary dyskinesia. Pediatr Res. 2014 Jan;75(1-2):158-64. doi: 10.1038/pr.2013.200. Epub 2013 Nov 5.
Leigh MW, Hazucha MJ, Chawla KK, Baker BR, Shapiro AJ, Brown DE, Lavange LM, Horton BJ, Qaqish B, Carson JL, Davis SD, Dell SD, Ferkol TW, Atkinson JJ, Olivier KN, Sagel SD, Rosenfeld M, Milla C, Lee HS, Krischer J, Zariwala MA, Knowles MR. Standardizing nasal nitric oxide measurement as a test for primary ciliary dyskinesia. Ann Am Thorac Soc. 2013 Dec;10(6):574-81. doi: 10.1513/AnnalsATS.201305-110OC.
Knowles MR, Daniels LA, Davis SD, Zariwala MA, Leigh MW. Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease. Am J Respir Crit Care Med. 2013 Oct 15;188(8):913-22. doi: 10.1164/rccm.201301-0059CI.
Knowles MR, Ostrowski LE, Loges NT, Hurd T, Leigh MW, Huang L, Wolf WE, Carson JL, Hazucha MJ, Yin W, Davis SD, Dell SD, Ferkol TW, Sagel SD, Olivier KN, Jahnke C, Olbrich H, Werner C, Raidt J, Wallmeier J, Pennekamp P, Dougherty GW, Hjeij R, Gee HY, Otto EA, Halbritter J, Chaki M, Diaz KA, Braun DA, Porath JD, Schueler M, Baktai G, Griese M, Turner EH, Lewis AP, Bamshad MJ, Nickerson DA, Hildebrandt F, Shendure J, Omran H, Zariwala MA. Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. Am J Hum Genet. 2013 Oct 3;93(4):711-20. doi: 10.1016/j.ajhg.2013.07.025. Epub 2013 Sep 19.
Daniels ML, Leigh MW, Davis SD, Armstrong MC, Carson JL, Hazucha M, Dell SD, Eriksson M, Collins FS, Knowles MR, Zariwala MA. Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia. Hum Mutat. 2013 Oct;34(10):1352-6. doi: 10.1002/humu.22371. Epub 2013 Aug 6.
Tarkar A, Loges NT, Slagle CE, Francis R, Dougherty GW, Tamayo JV, Shook B, Cantino M, Schwartz D, Jahnke C, Olbrich H, Werner C, Raidt J, Pennekamp P, Abouhamed M, Hjeij R, Köhler G, Griese M, Li Y, Lemke K, Klena N, Liu X, Gabriel G, Tobita K, Jaspers M, Morgan LC, Shapiro AJ, Letteboer SJ, Mans DA, Carson JL, Leigh MW, Wolf WE, Chen S, Lucas JS, Onoufriadis A, Plagnol V, Schmidts M, Boldt K; UK10K, Roepman R, Zariwala MA, Lo CW, Mitchison HM, Knowles MR, Burdine RD, Loturco JJ, Omran H. DYX1C1 is required for axonemal dynein assembly and ciliary motility. Nat Genet. 2013 Sep;45(9):995-1003. doi: 10.1038/ng.2707. Epub 2013 Jul 21.
Hjeij R, Lindstrand A, Francis R, Zariwala MA, Liu X, Li Y, Damerla R, Dougherty GW, Abouhamed M, Olbrich H, Loges NT, Pennekamp P, Davis EE, Carvalho CM, Pehlivan D, Werner C, Raidt J, Köhler G, Häffner K, Reyes-Mugica M, Lupski JR, Leigh MW, Rosenfeld M, Morgan LC, Knowles MR, Lo CW, Katsanis N, Omran H. ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. Am J Hum Genet. 2013 Aug 8;93(2):357-67. doi: 10.1016/j.ajhg.2013.06.009. Epub 2013 Jul 11.
Zariwala MA, Gee HY, Kurkowiak M, Al-Mutairi DA, Leigh MW, Hurd TW, Hjeij R, Dell SD, Chaki M, Dougherty GW, Adan M, Spear PC, Esteve-Rudd J, Loges NT, Rosenfeld M, Diaz KA, Olbrich H, Wolf WE, Sheridan E, Batten TF, Halbritter J, Porath JD, Kohl S, Lovric S, Hwang DY, Pittman JE, Burns KA, Ferkol TW, Sagel SD, Olivier KN, Morgan LC, Werner C, Raidt J, Pennekamp P, Sun Z, Zhou W, Airik R, Natarajan S, Allen SJ, Amirav I, Wieczorek D, Landwehr K, Nielsen K, Schwerk N, Sertic J, Köhler G, Washburn J, Levy S, Fan S, Koerner-Rettberg C, Amselem S, Williams DS, Mitchell BJ, Drummond IA, Otto EA, Omran H, Knowles MR, Hildebrandt F. ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. Am J Hum Genet. 2013 Aug 8;93(2):336-45. doi: 10.1016/j.ajhg.2013.06.007. Epub 2013 Jul 25.
Ferkol TW, Puffenberger EG, Lie H, Helms C, Strauss KA, Bowcock A, Carson JL, Hazucha M, Morton DH, Patel AC, Leigh MW, Knowles MR, Zariwala MA. Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities. J Pediatr. 2013 Aug;163(2):383-7. doi: 10.1016/j.jpeds.2013.01.061. Epub 2013 Mar 7.
Fowler CJ, Olivier KN, Leung JM, Smith CC, Huth AG, Root H, Kuhns DB, Logun C, Zelazny A, Frein CA, Daub J, Haney C, Shelhamer JH, Bryant CE, Holland SM. Abnormal nasal nitric oxide production, ciliary beat frequency, and Toll-like receptor response in pulmonary nontuberculous mycobacterial disease epithelium. Am J Respir Crit Care Med. 2013 Jun 15;187(12):1374-81. doi: 10.1164/rccm.201212-2197OC.
Antony D, Becker-Heck A, Zariwala MA, Schmidts M, Onoufriadis A, Forouhan M, Wilson R, Taylor-Cox T, Dewar A, Jackson C, Goggin P, Loges NT, Olbrich H, Jaspers M, Jorissen M, Leigh MW, Wolf WE, Daniels ML, Noone PG, Ferkol TW, Sagel SD, Rosenfeld M, Rutman A, Dixit A, O'Callaghan C, Lucas JS, Hogg C, Scambler PJ, Emes RD; Uk10k, Chung EM, Shoemark A, Knowles MR, Omran H, Mitchison HM. Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. Hum Mutat. 2013 Mar;34(3):462-72. doi: 10.1002/humu.22261. Epub 2013 Feb 11.
Sears PR, Thompson K, Knowles MR, Davis CW. Human airway ciliary dynamics. Am J Physiol Lung Cell Mol Physiol. 2013 Feb 1;304(3):L170-83. doi: 10.1152/ajplung.00105.2012. Epub 2012 Nov 9.
Knowles MR, Leigh MW, Ostrowski LE, Huang L, Carson JL, Hazucha MJ, Yin W, Berg JS, Davis SD, Dell SD, Ferkol TW, Rosenfeld M, Sagel SD, Milla CE, Olivier KN, Turner EH, Lewis AP, Bamshad MJ, Nickerson DA, Shendure J, Zariwala MA; Genetic Disorders of Mucociliary Clearance Consortium. Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. Am J Hum Genet. 2013 Jan 10;92(1):99-106. doi: 10.1016/j.ajhg.2012.11.003. Epub 2012 Dec 20.
Horani A, Druley TE, Zariwala MA, Patel AC, Levinson BT, Van Arendonk LG, Thornton KC, Giacalone JC, Albee AJ, Wilson KS, Turner EH, Nickerson DA, Shendure J, Bayly PV, Leigh MW, Knowles MR, Brody SL, Dutcher SK, Ferkol TW. Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. Am J Hum Genet. 2012 Oct 5;91(4):685-93. doi: 10.1016/j.ajhg.2012.08.022.
Nakhleh N, Francis R, Giese RA, Tian X, Li Y, Zariwala MA, Yagi H, Khalifa O, Kureshi S, Chatterjee B, Sabol SL, Swisher M, Connelly PS, Daniels MP, Srinivasan A, Kuehl K, Kravitz N, Burns K, Sami I, Omran H, Barmada M, Olivier K, Chawla KK, Leigh M, Jonas R, Knowles M, Leatherbury L, Lo CW. High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy. Circulation. 2012 May 8;125(18):2232-42. doi: 10.1161/CIRCULATIONAHA.111.079780. Epub 2012 Apr 12.
Knowles MR, Leigh MW, Zariwala MA. Cutting edge genetic studies in primary ciliary dyskinesia. Thorax. 2012 May;67(5):464; author reply 464. doi: 10.1136/thoraxjnl-2012-201609. Epub 2012 Feb 10.
Knowles MR, Leigh MW, Carson JL, Davis SD, Dell SD, Ferkol TW, Olivier KN, Sagel SD, Rosenfeld M, Burns KA, Minnix SL, Armstrong MC, Lori A, Hazucha MJ, Loges NT, Olbrich H, Becker-Heck A, Schmidts M, Werner C, Omran H, Zariwala MA; Genetic Disorders of Mucociliary Clearance Consortium. Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. Thorax. 2012 May;67(5):433-41. doi: 10.1136/thoraxjnl-2011-200301. Epub 2011 Dec 18.
Ferkol TW, Leigh MW. Ciliopathies: the central role of cilia in a spectrum of pediatric disorders. J Pediatr. 2012 Mar;160(3):366-71. doi: 10.1016/j.jpeds.2011.11.024. Epub 2011 Dec 16.
Leigh MW, O'Callaghan C, Knowles MR. The challenges of diagnosing primary ciliary dyskinesia. Proc Am Thorac Soc. 2011 Sep;8(5):434-7. doi: 10.1513/pats.201103-028SD.
Zariwala MA, Omran H, Ferkol TW. The emerging genetics of primary ciliary dyskinesia. Proc Am Thorac Soc. 2011 Sep;8(5):430-3. doi: 10.1513/pats.201103-023SD.
Sagel SD, Davis SD, Campisi P, Dell SD. Update of respiratory tract disease in children with primary ciliary dyskinesia. Proc Am Thorac Soc. 2011 Sep;8(5):438-43. doi: 10.1513/pats.201103-024SD.
Olin JT, Burns K, Carson JL, Metjian H, Atkinson JJ, Davis SD, Dell SD, Ferkol TW, Milla CE, Olivier KN, Rosenfeld M, Baker B, Leigh MW, Knowles MR, Sagel SD; Genetic Disorders of Mucociliary Clearance Consortium. Diagnostic yield of nasal scrape biopsies in primary ciliary dyskinesia: a multicenter experience. Pediatr Pulmonol. 2011 May;46(5):483-8. doi: 10.1002/ppul.21402. Epub 2011 Jan 31.
Berg JS, Evans JP, Leigh MW, Omran H, Bizon C, Mane K, Knowles MR, Weck KE, Zariwala MA. Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing. Genet Med. 2011 Mar;13(3):218-29. doi: 10.1097/GIM.0b013e318203cff2.
Lie H, Zariwala MA, Helms C, Bowcock AM, Carson JL, Brown DE 3rd, Hazucha MJ, Forsen J, Molter D, Knowles MR, Leigh MW, Ferkol TW. Primary ciliary dyskinesia in Amish communities. J Pediatr. 2010 Jun;156(6):1023-1025. doi: 10.1016/j.jpeds.2010.01.054. Epub 2010 Mar 29.
Loges NT, Olbrich H, Becker-Heck A, Häffner K, Heer A, Reinhard C, Schmidts M, Kispert A, Zariwala MA, Leigh MW, Knowles MR, Zentgraf H, Seithe H, Nürnberg G, Nürnberg P, Reinhardt R, Omran H. Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. Am J Hum Genet. 2009 Dec;85(6):883-9. doi: 10.1016/j.ajhg.2009.10.018.
Leigh MW, Pittman JE, Carson JL, Ferkol TW, Dell SD, Davis SD, Knowles MR, Zariwala MA. Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. Genet Med. 2009 Jul;11(7):473-87. doi: 10.1097/GIM.0b013e3181a53562.
Leigh MW, Zariwala MA, Knowles MR. Primary ciliary dyskinesia: improving the diagnostic approach. Curr Opin Pediatr. 2009 Jun;21(3):320-5. doi: 10.1097/MOP.0b013e328329cddb.
Griggs RC, Batshaw M, Dunkle M, Gopal-Srivastava R, Kaye E, Krischer J, Nguyen T, Paulus K, Merkel PA; Rare Diseases Clinical Research Network. Clinical research for rare disease: opportunities, challenges, and solutions. Mol Genet Metab. 2009 Jan;96(1):20-6. doi: 10.1016/j.ymgme.2008.10.003. Epub 2008 Nov 13.
Brown DE, Pittman JE, Leigh MW, Fordham L, Davis SD. Early lung disease in young children with primary ciliary dyskinesia. Pediatr Pulmonol. 2008 May;43(5):514-6. doi: 10.1002/ppul.20792.
Zhang Z, Zariwala MA, Mahadevan MM, Caballero-Campo P, Shen X, Escudier E, Duriez B, Bridoux AM, Leigh M, Gerton GL, Kennedy M, Amselem S, Knowles MR, Strauss JF 3rd. A heterozygous mutation disrupting the SPAG16 gene results in biochemical instability of central apparatus components of the human sperm axoneme. Biol Reprod. 2007 Nov;77(5):864-71. doi: 10.1095/biolreprod.107.063206. Epub 2007 Aug 15.
Kennedy MP, Coakley RD, Donaldson SH, Aris RM, Hohneker K, Wedd JP, Knowles MR, Gilligan PH, Yankaskas JR. Burkholderia gladioli: five year experience in a cystic fibrosis and lung transplantation center. J Cyst Fibros. 2007 Jul;6(4):267-73. doi: 10.1016/j.jcf.2006.10.007. Epub 2006 Nov 29.
Kennedy MP, Omran H, Leigh MW, Dell S, Morgan L, Molina PL, Robinson BV, Minnix SL, Olbrich H, Severin T, Ahrens P, Lange L, Morillas HN, Noone PG, Zariwala MA, Knowles MR. Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia. Circulation. 2007 Jun 5;115(22):2814-21. doi: 10.1161/CIRCULATIONAHA.106.649038. Epub 2007 May 21.
Kennedy MP, Noone PG, Leigh MW, Zariwala MA, Minnix SL, Knowles MR, Molina PL. High-resolution CT of patients with primary ciliary dyskinesia. AJR Am J Roentgenol. 2007 May;188(5):1232-8. doi: 10.2214/AJR.06.0965.
Kennedy MP, Noone PG, Carson J, Molina PL, Ghio A, Zariwala MA, Minnix SL, Knowles MR. Calcium stone lithoptysis in primary ciliary dyskinesia. Respir Med. 2007 Jan;101(1):76-83. doi: 10.1016/j.rmed.2006.04.007. Epub 2006 Jun 6.
Zariwala MA, Knowles MR, Omran H. Genetic defects in ciliary structure and function. Annu Rev Physiol. 2007;69:423-50. doi: 10.1146/annurev.physiol.69.040705.141301.
Lie H, Ferkol T. Primary ciliary dyskinesia: recent advances in pathogenesis, diagnosis and treatment. Drugs. 2007;67(13):1883-92. doi: 10.2165/00003495-200767130-00006.
Ferkol T, Leigh M. Primary ciliary dyskinesia and newborn respiratory distress. Semin Perinatol. 2006 Dec;30(6):335-40. doi: 10.1053/j.semperi.2005.11.001.
Zariwala MA, Leigh MW, Ceppa F, Kennedy MP, Noone PG, Carson JL, Hazucha MJ, Lori A, Horvath J, Olbrich H, Loges NT, Bridoux AM, Pennarun G, Duriez B, Escudier E, Mitchison HM, Chodhari R, Chung EM, Morgan LC, de Iongh RU, Rutland J, Pradal U, Omran H, Amselem S, Knowles MR. Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation. Am J Respir Crit Care Med. 2006 Oct 15;174(8):858-66. doi: 10.1164/rccm.200603-370OC. Epub 2006 Jul 20.
Sheridan MB, Fong P, Groman JD, Conrad C, Flume P, Diaz R, Harris C, Knowles M, Cutting GR. Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome. Hum Mol Genet. 2005 Nov 15;14(22):3493-8. doi: 10.1093/hmg/ddi374. Epub 2005 Oct 5.
Ward KS, Ptak CP, Pashkova N, Grider T, Peterson TA, Pareyson D, Pisciotta C, Saveri P, Moroni I, Laura M, Burns J, Menezes MP, Cornett K, Finkel R, Mukherjee-Clavin B, Sumner CJ, Greene M, Abdul Hamid O, Herrmann D, Sadjadi R, Walk D, Züchner S, Reilly MM, Scherer SS; Inherited Neuropathy Consortium; Piper RC, Shy ME. Charcot-Marie-Tooth disease type 1E: clinical natural history and molecular impact of PMP22 variants. Brain. 2025 Jun 9:awaf219. doi: 10.1093/brain/awaf219. Epub ahead of print. PMID: 40488457.
Charcot-Marie-Tooth disease type 1E (CMT1E) is a neuromuscular disorder that affects the peripheral nerves of the feet and hands, leading to neuropathy. Since CMT1E is caused by different kinds of variants in the PMP22 gene, patients can experience a spectrum of mild to severe symptoms. Not much is known about the natural history and symptom progression among these individuals.
In this study, researchers investigated the correlation between disease severity and genetic variants in CMT1E. First, the team evaluated patients with CMT1E during initial and follow-up visits at sites within the Inherited Neuropathy Consortium, documenting clinical characteristics and evaluating changes over time. Next, researchers correlated PMP22 variants with disease severity.
Results revealed 24 likely disease-causing PMP22 variants among 50 individuals. The team found that reduced expression of PMP22 at the cell surface—and the location of missense variants within the transmembrane domain—correlated with disease severity. In addition, pathogenic PMP22 variants located within the transmembrane regions were often found to cause moderate to severe disease beginning in early childhood, impairing trafficking to the plasma membrane.
Ward KS, Ptak CP, Pashkova N, Grider T, Peterson TA, Pareyson D, Pisciotta C, Saveri P, Moroni I, Laura M, Burns J, Menezes MP, Cornett K, Finkel R, Mukherjee-Clavin B, Sumner CJ, Greene M, Hamid OA, Herrmann D, Sadjadi R, Walk D, Züchner S, Reilly MM, Scherer SS; Inherited Neuropathy Consortium; Piper RC, Shy ME. Charcot-Marie-Tooth disease type 1E: Clinical Natural History and Molecular Impact of PMP22 Variants. medRxiv [Preprint]. 2025 May 2:2025.05.01.25326605. doi: 10.1101/2025.05.01.25326605.
Bertini A, Reilly MM, Pisciotta C, Previtali SC, Parman Y, Battaloglu E, Laurà M, Blake J, Sacconi S, Attarian S, Stojkovic T, Bellatache M, Nouioua S, Tazir M, Cakar A, Gambardella A, Valentino P, Lewis RA, Horvath R, Zambon AA, Sabatelli M, Luigetti M, Tozza S, Manganelli F, Herrmann DN, Scherer SS, Kressin N, Ward K, Bolino A, Shy ME, Pareyson D; CMT4B Study Group; Inherited Neuropathy Consortium. Disease Progression in Charcot-Marie-Tooth Disease Type 4B (CMT4B) Associated With Mutations in Myotubularin-Related Proteins 2 and 13. Eur J Neurol. 2025 Feb;32(2):e70084. doi: 10.1111/ene.70084.
Haddad S, Record CJ, Self E, Skorupinska M, Rossor AM, Laura M, Ingle G, Manzur A, Muntoni F, Blake JC, Reilly MM. Heterozygous PNPT1 Variants Cause a Sensory Ataxic Neuropathy. Eur J Neurol. 2025 Feb;32(2):e70064. doi: 10.1111/ene.70064.
Beijer D, Dohrn MF, Rebelo A, Danzi MC, Grosz BR, Ellis M, Kumar KR, Vucic S, Vais H, Weissenrieder JS, Lunko O, Paudel U, Simpson LC, Camarena V, Raposo J, Saporta M, Arcia Y, Xu I, Feely S, Record CJ, Blake J, Reilly MM, Scherer SS, Kennerson M, Lee YC, Foskett JK, Shy ME, Zuchner S. A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity. Brain. 2025 Jan 7;148(1):227-237. doi: 10.1093/brain/awae206. PMID: 38938188; PMCID: PMC11706300.
Charcot-Marie-Tooth disease (CMT) is a group of neuromuscular disorders that affect the peripheral nerves of the feet and hands, leading to neuropathy. Most cases of CMT type 1 (CMT1)—a form of CMT which causes demyelination, or problems with myelin (the fatty coating) around extremity nerves—are diagnosed via duplications in the PMP22 gene. However, CMT1 can also be caused by other genetic mutations.
In this study, researchers used whole exome and whole genome sequencing data to investigate new causal genes and mutations in CMT. The team analyzed data from 2,670 individuals with CMT neuropathy included in the GENESIS genomic research platform.
Results reveal that a recurrent missense variant in the gene ITPR3 causes CMT1. The variant was found in 33 individuals from nine unrelated families of multiple populations. Patients with the variant also showed differences in age at onset and severity, even within families. Authors note that these findings strengthen the gene-disease relationship in CMT1.
Kosmanopoulos GP, Donohue JK, Hoke M, Thomas S, Peyton MA, Vo L, Crawford TO, Sadjadi R, Herrmann DN, Yum SW, Reilly MM, Scherer SS, Finkel RS, Lewis RA, Pareyson D, Pisciotta C, Walk D, Shy ME, Sumner CJ; Inherited Neuropathies Consortium - Rare Disease Clinical Research Network; McCray BA. TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations. Brain. 2025 Jan 7;148(1):238-251. doi: 10.1093/brain/awae201.
Record CJ, O'Connor A, Verbeek NE, van Rheenen W, Zamba Papanicolaou E, Peric S, Ligthart PC, Skorupinska M, van Binsbergen E, Campeau PM, Ivanovic V, Hennigan B, McHugh JC, Blake JC, Murakami Y, Laura M, Murphy SM, Reilly MM. Recessive Variants in PIGG Cause a Motor Neuropathy with Variable Conduction Block, Childhood Tremor, and Febrile Seizures: Expanding the Phenotype. Ann Neurol. 2025 Feb;97(2):388-396. doi: 10.1002/ana.27113. Epub 2024 Oct 23. PMID: 39444079; PMCID: PMC11740278.
Neuropathy is characterized by nerve damage resulting in muscle weakness, muscle atrophy, and abnormal sensations such as numbness, tingling, pins and needles, and pain in affected regions. While variants in the PIGG gene have been suspected to cause motor neuropathy—along with hypotonia, intellectual disability, seizures, and cerebellar involvement—these findings have not been confirmed.
In this study, researchers identified the first known patients with a distinct motor neuropathy caused by variants in the PIGG gene. The team used whole exome sequencing and whole genome sequencing to classify genetic variants.
Results revealed eight patients from six families with PIGG variants and a motor neuropathy associated with childhood-onset tremor, febrile seizures, and cerebellar involvement. Authors note that the PIGG gene should be considered in all unsolved cases of inherited motor neuropathy.
Reynolds EL, Koenig F, Watanabe M, Kwiatek A, Elafros MA, Stino A, Henderson D, Herrmann DN, Feldman EL, Callaghan BC. Comparison of intraepidermal nerve fiber density and confocal corneal microscopy for neuropathy. Ann Clin Transl Neurol. 2024 Dec;11(12):3115-3124. doi: 10.1002/acn3.52218. Epub 2024 Oct 12. PMID: 39394845; PMCID: PMC11651211.
Distal symmetric polyneuropathy (DSP) is a condition characterized by damage to the peripheral nerves of the feet and hands. Small fiber neuropathy (SFN), which is characterized by damage to small unmyelinated nerve fibers in the feet and hands, is an early sign in the development of DSP. Not much is known about how two diagnostic tools for neuropathy—intraepidermal nerve fiber density (IENFD) and confocal corneal microscopy (CCM)—compare, particularly in a population with obesity.
In this study, researchers compared the use of IENFD and CCM to diagnose DSP and SFN. In 140 individuals with obesity recruited from bariatric surgery clinics, researchers used both IENFD and CCM techniques to test for DSP and SFN prior to surgery. The team also compared these more invasive tests to the Michigan Neuropathy Screening Instrument questionnaire (MNSIq).
Results show that distal leg IENFD was the best quantitative measure of DSP and SFN. CCM showed poor diagnostic characteristics and lower preference among patients compared to IENFD. However, the MNSIq showed similar diagnostic characteristics to distal leg IENFD, demonstrating its potential as an easy-to-perform diagnostic tool for DSP and SFN.
Rehbein T, Purks J, Dilek N, Behrens-Spraggins S, Sowden JE, Eichinger KJ; ACT‐CMT Study Group; Burns J, Pareyson D, Scherer SS, Reilly MM, Shy ME, McDermott MP, Heatwole CR, Herrmann DN. Patient-reported disease burden in the Accelerate Clinical Trials in Charcot–Marie–Tooth Disease Study. J Peripher Nerv Syst. 2024 Dec;29(4):487-493. doi: 10.1111/jns.12662. Epub 2024 Oct 10. PMID: 39390667; PMCID: PMC11631656.
Charcot-Marie-Tooth disease (CMT) is a group of disorders that affect the peripheral nerves of the feet and hands, leading to neuropathy. Symptoms may include weakness, sensory loss, muscle atrophy, balance problems, and foot deformities.
In this study, researchers investigated patient perspectives on disease burden over time in CMT. As part of an international clinical trial readiness study, 215 individuals with CMT type 1A participated in clinical outcome assessments (including the CMT Health Index) to capture changes in patient-reported disease burden over 12 months.
Results show that patient-reported disease burden in CMT type 1A as measured by the CMT Health Index is associated with measures of neurologic impairment and physical functioning. Women reported a higher disease burden than men. Authors note that these data will inform the design of clinical trials in CMT type 1A.
Rossor AM, Haddad S, Reilly MM. The evolving spectrum of complex inherited neuropathies. Curr Opin Neurol. 2024 Oct 1;37(5):427-444. doi: 10.1097/WCO.0000000000001307. Epub 2024 Jul 31.
Fennessy JR, Cornett KMD, Donlevy GA, Mckay MJ, Burns J, Menezes MP. Long-term outcomes in children with riboflavin transporter deficiency and surveillance recommendations. Dev Med Child Neurol. 2024 Sep 9. doi: 10.1111/dmcn.16083. Epub ahead of print. PMID: 39252496.
Riboflavin transporter deficiency (RTD) is a progressive neurodegenerative disease characterized by paralysis of the cranial nerves, sensorineural deafness, and signs of damage to other nerves. Without treatment, children with RTD can experience life-threatening respiratory failure. The only known effective treatment is high-dose oral riboflavin. To provide accurate prognosis information to newly diagnosed families and learn if additional treatments are required, more data is needed about the long-term effects of oral riboflavin supplementation.
In this study, researchers explored the long-term outcomes of children with RTD who were supplemented with high-dose oral riboflavin. The team assessed disease progression in 11 children with RTD, following up each year until they transitioned to adult services.
Results show that children with RTD who were treated early after symptom onset had better long-term outcomes. However, although treatment with riboflavin slowed disease progression, patients were left with residual disability. To track disease progression and treatment response over time, authors recommend regular surveillance using the RTD Pediatric Scale, as well as the provided list of clinical measures.
Record CJ, Pipis M, Skorupinska M, Blake J, Poh R, Polke JM, Eggleton K, Nanji T, Zuchner S, Cortese A, Houlden H, Rossor AM, Laura M, Reilly MM. Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease. Brain. 2024 Sep 3;147(9):3144-3156. doi: 10.1093/brain/awae064. PMID: 38481354; PMCID: PMC11370804.
Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological diseases, with more than 130 disease-causing genes. Although whole-genome sequencing has improved diagnosis across genetic diseases, the impact in CMT has not yet been explored.
In this study, researchers investigated the impact of whole-genome sequencing on the diagnostic rate of CMT. The team reviewed diagnostic results from 1,515 patients with a clinical diagnosis of CMT and related disorders at a single specialist inherited neuropathy center.
Results show a 3.5% increase in the diagnostic rate of participants due to whole-genome sequencing. Although the center’s diagnostic rate is the highest reported, almost one-quarter of all cases are still unsolved. Authors note that a new reference genome and technologies will help to improve diagnosis.
Henning F, Naidu K, Record CJ, Dominik N, Vandrovcova J, Lubbe F, Dercksen M; ICGNMD Consortium; Wilson LA, Van Der Westhuizen F, Reilly MM, Houlden H, Hanna MG, Carr J. Extended Phenotype of PEX11B Pathogenic Variants: Ataxia, Tremor, and Dystonia Due to a Novel C.2T > G Variant. Mov Disord Clin Pract. 2024 Aug 2. doi: 10.1002/mdc3.14178. Epub ahead of print. PMID: 39092477.
Peroxisome biogenesis disorders (PBDs), also known as Zellweger spectrum, are a group of genetic conditions that affect many parts of the body. PBDs are characterized by failure of the body to produce properly functioning peroxisomes, which are membrane-bound organelles involved in a variety of metabolic reactions. These disorders are usually caused by variants in peroxin (PEX) genes.
In this report, researchers expand the phenotype of peroxisome biogenesis disorders by uncovering a new genetic variant. The team performed whole exome sequencing in two patients presenting with late-onset PBD, including movement disorders noticed at age 34 and 41, respectively.
Results revealed a new PEX11B variant in these patients. Symptoms included dystonia, ataxia, and tremor, which had not been previously described in PBDs. Authors note that movement disorders may only manifest at a later age in patients with PBD.
Yanick C, Maciel R, Jacobs E, Schatzman J, Shy M, Zuchner S, Saporta M. Generation of 3 patient induced Pluripotent stem cell lines containing SORD mutations linked to a recessive neuropathy. Stem Cell Res. 2024 Aug;78:103449. doi: 10.1016/j.scr.2024.103449. Epub 2024 May 22.
Maroofian R, Sarraf P, O'Brien TJ, Kamel M, Cakar A, Elkhateeb N, Lau T, Patil SJ, Record CJ, Horga A, Essid M, Selim L, Benrhouma H, Ben Younes T, Zifarelli G, Pagnamenta AT, Bauer P, Khundadze M, Mirecki A, Kamel SM, Elmonem MA, Ghayoor Karimiani E, Jamshidi Y, Offiah AC, Rossor AM, Youssef-Turki IB, Hübner CA, Munot P, Reilly MM, Brown AEX, Nagy S, Houlden H. RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity. Brain. 2024 Jul 5;147(7):2334-2343. doi: 10.1093/brain/awae091. PMID: 38527963; PMCID: PMC11224604.
Distal hereditary motor neuropathies (dHMNs) are a diverse group of rare neuromuscular disorders characterized by muscle weakness and atrophy. Clinical and genetic overlap among hereditary neurological disorders highlights the potential of a shared molecular cause.
In this study, researchers describe a new subtype of recessive dHMN caused by deficiency of the RTN2 protein. The team used exome, genome, and Sanger sequencing techniques coupled with deep-phenotyping to identify and validate seven new or ultra-rare variants in the RTN2 gene in 14 individuals with dHMN.
Findings reveal that this new subtype shares similarities with two other subtypes of dHMN—SIGMAR1-related disorder and Silver-like syndromes. Authors note that this study provides valuable insights on the clinical spectrum and potential therapeutic strategies for RTN2-related dHMN.
Xu IRL, Danzi MC, Ruiz A, Raposo J, De Jesus YA, Reilly MM, Cortese A, Shy ME, Scherer SS, Herrmann DN, Fridman V, Baets J, Saporta M, Seyedsadjadi R, Stojkovic T, Claeys KG, Patel P, Feely S, Rebelo AP. A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A. J Peripher Nerv Syst. 2024 Jun;29(2):202-212. doi: 10.1111/jns.12621. Epub 2024 Apr 5. PMID: 38581130; PMCID: PMC11209807.
Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common form of hereditary neuropathy. Although all cases of CMT1A are caused by duplications of the PMP22 gene, each case can have significant differences in severity, which may result from genetic modifiers.
In this study, researchers analyzed genetic modifiers to characterize severity in patients with CMT1A. The team reviewed clinical examination results from 1,564 patients in a natural history study conducted by the Inherited Neuropathy Consortium (INC). Next, the team identified extreme cases (mild and severe) among these patients.
Results reveal insights on genetic modifiers that have significant effects on the severity and course of CMT1A. Authors note that the metrics used in this study can also improve patient enrollment strategies for future studies.
O'Donnell LF, Pipis M, Thornton JS, Kanber B, Wastling S, McDowell A, Zafeiropoulos N, Laura M, Skorupinska M, Record CJ, Doherty CM, Herrmann DN, Zetterberg H, Heslegrave AJ, Laban R, Rossor AM, Morrow JM, Reilly MM. Quantitative MRI outcome measures in CMT1A using automated lower limb muscle segmentation. J Neurol Neurosurg Psychiatry. 2024 May 14;95(6):500-503. doi: 10.1136/jnnp-2023-332454.
Murray GC, Hines TJ, Tadenev ALD, Xu I, Zuchner S, Burgess RW. Testing SIPA1L2 as a modifier of CMT1A using mouse models. J Neuropathol Exp Neurol. 2024 Mar 12:nlae020. doi: 10.1093/jnen/nlae020. Online ahead of print.
Tomaselli PJ, Blake J, Polke JM, do Nascimento OJM, Reilly MM, Marques Júnior W, Laurá M. Intermediate conduction velocity in two cases of Charcot-Marie-Tooth disease type 1A. Eur J Neurol. 2024 Feb 26:e16199. doi: 10.1111/ene.16199. Epub ahead of print. PMID: 38409938.
Charcot-Marie-Tooth disease type 1A (CMT1A), the most common form of inherited peripheral neuropathy, is caused by duplication of the PMP22 gene. Individuals with CMT1A experience slow nerve conduction velocity (the speed of electrical impulses moving through nerves). Because most patients have nerve conduction rates below 38 meters per second, genetic testing for PMP22 duplication is not usually recommended for those with higher rates.
In this study, researchers report cases of intermediate nerve conduction velocity in two patients with CMT1A. Both individuals had upper limb motor nerve conduction velocities above 38 meters per second. These patients also presented with very mild forms of CMT1A.
Authors note that although these cases are very rare, they highlight the importance of testing PMP22 duplication in patients with intermediate conduction velocities.
Ptak CP, Peterson TA, Hopkins JB, Ahern CA, Shy ME, Piper RC. Homomeric interactions of the MPZ Ig domain and their relation to Charcot-Marie-Tooth disease. Brain. 2023 Dec 1;146(12):5110-5123. doi: 10.1093/brain/awad258.
Rebelo AP, Tomaselli PJ, Medina J, Wang Y, Dohrn MF, Nyvltova E, Danzi MC, Garrett M, Smith SE, Pestronk A, Li C, Ruiz A, Jacobs E, Feely SME, França MC, Gomes MV, Santos DF, Kumar S, Lombard DB, Saporta M, Hekimi S, Barrientos A, Weihl C, Shy ME, Marques W, Zuchner S. Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs. Brain. 2023 Oct 3;146(10):4191-4199. doi: 10.1093/brain/awad158.
Pipis M, Won S, Poh R, Efthymiou S, Polke JM, Skorupinska M, Blake J, Rossor AM, Moran JJ, Munot P, Muntoni F, Laura M, Svaren J, Reilly MM. Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1. Brain. 2023 Oct 3;146(10):4025-4032. doi: 10.1093/brain/awad203. PMID: 37337674; PMCID: PMC10545524
Charcot-Marie-Tooth disease type 1A (CMT1A), the most common form of inherited peripheral neuropathy, is caused by a copy number variation (CNV) in the PMP22 gene. In rodent models of CMT1A, overexpression of miR-29a, a type of microRNA, has been shown to reduce the PMP22 transcript and protein level.
In this study, researchers demonstrate for the first time how imbalance in the microRNA-mediated regulation of gene expression can mimic a CNV-associated disease in humans. Study participants included a family of CMT1A patients enrolled in a natural history study.
Authors state that these findings show the importance of miR-29a in regulating PMP22 expression and could lead to development of new therapeutic drugs.
Cortese A, Currò R, Ronco R, Blake J, Rossor AM, Bugiardini E, Laurà M, Warner T, Yousry T, Poh R, Polke J, Rebelo A, Dohrn MF, Saporta M, Houlden H, Zuchner S, Reilly MM. Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataracts. Eur J Neurol. 2023 Sep 29. doi: 10.1111/ene.16063. Epub ahead of print. PMID: 37772343
Charcot–Marie–Tooth disease type 2 (CMT2), also known as hereditary motor and sensory neuropathy, is a disorder affecting nerve axons (ends of the nerves) which carry signals from the brain to the extremities. While mutations in the alpha-B-crystallin (CRYAB) gene have been associated with myofibrillar myopathy, dilated cardiomyopathy, and cataracts, they have not previously included peripheral neuropathy.
In this study, researchers expand the phenotype (observable characteristics) of CRYAB-related disease to include CMT2. The team performed whole-exome sequencing in two unrelated families with genetically unsolved axonal CMT2, assessing clinical, neurophysiological, and radiological features.
Results identify CRYAB mutations as a cause of CMT2 in these patients. Authors note that CRYAB mutations should be suspected in cases with late-onset CMT2, especially in the presence of congenital cataracts.
Rehbein T, Wu TT, Treidler S, Pareyson D, Lewis R, Yum SW, McCray BA, Ramchandren S, Burns J, Li J, Finkel RS, Scherer SS, Zuchner S, Shy ME, Reilly MM, Herrmann DN. Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history. Brain. 2023 Sep 1;146(9):3826-3835. doi: 10.1093/brain/awad095. PMID: 36947133; PMCID: PMC10473553
Charcot-Marie-Tooth disease type 4C (CMT4C) is an inherited, degenerative disorder affecting the nerves that travel to the feet and hands. CMT4C is caused by recessive variants in the SH3TC2 gene and characterized by early onset spinal deformities, as well as a wide spectrum of symptoms and severity. Currently, not much is known about the relationship between pathogenic (disease-causing) variants and disease manifestations.
In this study, researchers explored the natural history of CMT4C by gathering genetic and clinical data from the Inherited Neuropathy Consortium (INC). The team examined symptoms, neurological examinations, and neurophysiological characteristics over time in 56 individuals with CMT4C.
The resulting analysis marks the largest cross-sectional and only longitudinal study to date of the clinical phenotype of both adults and children with CMT4C. Authors note that by further defining the natural history of CMT4C, these data will help inform study design of future clinical trials for genetic treatments.
Wu TT, Finkel RS, Siskind CE, Feely SME, Burns J, Reilly MM, Muntoni F, Milev E, Estilow T, Shy ME, Ramchandren S; Childhood CMT Study Group of the Inherited Neuropathy Consortium. Validation of the parent-proxy version of the pediatric Charcot-Marie-Tooth disease quality of life instrument for children aged 0-7 years. J Peripher Nerv Syst. 2023 Sep;28(3):382-389. doi: 10.1111/jns.12557. Epub 2023 May 18.
Donlevy GA, Cornett KMD, Garnett SP, Shy R, Estilow T, Yum SW, Anderson K, Pareyson D, Moroni I, Muntoni F, Reilly MM, Finkel RS, Herrmann DN, Eichinger KJ, Shy ME, Burns J, Menezes MP. Association of Body Mass Index With Disease Progression in Children With Charcot-Marie-Tooth Disease. Neurology. 2023 Aug 15;101(7):e717-e727. doi: 10.1212/WNL.0000000000207488. Epub 2023 Jun 28. PMID: 37380432; PMCID: PMC10437011
Charcot-Marie-Tooth disease (CMT) is a group of disorders that affect the peripheral nerves, which connect the brain and spinal cord to muscles and sensory cells. Symptoms include weakness, sensory loss, muscle atrophy (wasting), and foot deformities.
In this study, researchers evaluated the impact of body mass index (BMI) on disease progression over two years in children with CMT. Among 242 participants aged 3–20 years with CMT, the team categorized groups by BMI and assessed disease severity using the CMT Pediatric Scale (CMTPedS).
Results show that children with CMT who were severely underweight, underweight, or obese exhibited greater disability at baseline. Over the two-year period in those whose BMI remained stable, severely underweight children deteriorated at the fastest rate. For children who changed BMI categories over the two years, CMTPedS scores deteriorated faster in those who became overweight or obese. Authors note that interventions to maintain or improve BMI toward healthy weight may reduce disability in children with CMT.
Ajjarapu A, Feely SME, Shy ME, Trout C, Zuchner S, Moore SA, Mathews KD. Thirty-Year Follow-Up of Early Onset Amyotrophic Lateral Sclerosis with a Pathogenic Variant in SPTLC1. Case Rep Neurol. 2023 Jun 12;15(1):146-152. doi: 10.1159/000530974. eCollection 2023 Jan-Dec.
Record CJ, Skorupinska M, Laura M, Rossor AM, Pareyson D, Pisciotta C, Feely SME, Lloyd TE, Horvath R, Sadjadi R, Herrmann DN, Li J, Walk D, Yum SW, Lewis RA, Day J, Burns J, Finkel RS, Saporta MA, Ramchandren S, Weiss MD, Acsadi G, Fridman V, Muntoni F, Poh R, Polke JM, Zuchner S, Shy ME, Scherer SS, Reilly MM; Inherited Neuropathies Consortium - Rare Disease Clinical Research Network. Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants. Brain. 2023 Jun 7:awad187. doi: 10.1093/brain/awad187. Online ahead of print.
Zhu Y, Lobato AG, Rebelo AP, Canic T, Ortiz-Vega N, Tao X, Syed S, Yanick C, Saporta M, Shy M, Perfetti R, Shendelman S, Zuchner S, Zhai RG. Sorbitol reduction via govorestat ameliorates synaptic dysfunction and neurodegeneration in sorbitol dehydrogenase deficiency. JCI Insight. 2023 May 22;8(10):e164954. doi: 10.1172/jci.insight.164954.
Reilly MM, Herrmann DN, Pareyson D, Scherer SS, Finkel RS, Zuchner S, Burns J, Shy ME. Trials for Slowly Progressive Neurogenetic Diseases Need Surrogate Endpoints. Ann Neurol. 2023 May;93(5):906-910. doi: 10.1002/ana.26633. Epub 2023 Mar 21.
Record CJ, Pipis M, Poh R, Polke JM, Reilly MM. Beware next-generation sequencing gene panels as the first-line genetic test in Charcot-Marie-Tooth disease. J Neurol Neurosurg Psychiatry. 2023 Apr;94(4):327-328. doi: 10.1136/jnnp-2022-330223. Epub 2022 Nov 14.
Silsby M, Feldman EL, Dortch RD, Roth A, Haroutounian S, Rajabally YA, Vucic S, Shy ME, Oaklander AL, Simon NG. Advances in diagnosis and management of distal sensory polyneuropathies. J Neurol Neurosurg Psychiatry. 2023 Mar 30:jnnp-2021-328489. doi: 10.1136/jnnp-2021-328489. Online ahead of print.
Fridman V, Sillau S, Bockhorst J, Smith K, Moroni I, Pagliano E, Pisciotta C, Piscosquito G, Laurá M, Muntoni F, Bacon C, Feely S, Grider T, Gutmann L, Shy R, Wilcox J, Herrmann DN, Li J, Ramchandren S, Sumner CJ, Lloyd TE, Day J, Siskind CE, Yum SW, Sadjadi R, Finkel RS, Scherer SS, Pareyson D, Reilly MM, Shy ME; Inherited Neuropathies Consortium-Rare Diseases Clinical Research Network. Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study. Ann Neurol. 2023 Mar;93(3):563-576. doi: 10.1002/ana.26518. Epub 2022 Oct 28.
Leone E, Davenport S, Robertson C, Laurà M, Skorupinska M, Reilly MM, Ramdharry G. Incidence and risk factors for patellofemoral dislocation in adults with Charcot-Marie-Tooth disease: An observational study. Physiother Res Int. 2023 Feb 19;28(3):e1996. doi: 10.1002/pri.1996. Online ahead of print.
Wu TT, Finkel RS, Siskind CE, Feely SME, Burns J, Reilly MM, Muntoni F, Estilow T, Shy ME, Ramchandren S; Childhood CMT Study Group of the Inherited Neuropathy Consortium. Validation of the parent-proxy pediatric Charcot-Marie-Tooth disease quality of life outcome measure. J Peripher Nerv Syst. 2023 Feb 7. doi: 10.1111/jns.12538. Epub ahead of print. PMID: 36748295.
Charcot-Marie-Tooth disease (CMT) is a group of genetic disorders that affect the peripheral nerves, which connect the brain and spinal cord to muscles and sensory endings. With symptoms including weakness, sensory loss, muscle atrophy (wasting), balance problems, and foot deformities, CMT is known to reduce health-related quality of life (QOL) in children as well as adults. However, there is currently no parent-proxy CMT QOL outcome measure for use in children for either natural history studies or clinical trials.
In this study, researchers describe the validation of the parent-proxy pediatric CMT-QOL outcome measure for children aged 8 to 18 years. After developing a working version of the outcome measure, the team administered this version to 358 parents of children with CMT seen at the participating study sites of the Inherited Neuropathy Consortium from 2010 to 2016. Results from the parent-proxy version were compared with previously published results completed by the children themselves. To develop the final version, researchers performed rigorous tests of the data, including psychometric analysis, factor analysis, test-retest reliability, internal consistency, convergent validity, IRT analysis, and longitudinal analysis.
Results show that the parent-proxy version of the pediatric CMT-QOL outcome measure is a reliable, valid, and sensitive proxy measure of health-related QOL for children aged 8 to 18 with CMT.
Kapoor M, Carr A, Foiani M, Heslegrave A, Zetterberg H, Malaspina A, Compton L, Hutton E, Rossor A, Reilly MM, Lunn MP. Association of plasma neurofilament light chain with disease activity in chronic inflammatory demyelinating polyradiculoneuropathy. Eur J Neurol. 2022 Nov;29(11):3347-3357. doi: 10.1111/ene.15496. Epub 2022 Jul 25.
Malcorps M, Amor-Barris S, Burnyte B, Vilimiene R, Armirola-Ricaurte C, Grigalioniene K, Ekshteyn A, Morkuniene A, Vaitkevicius A, De Vriendt E, Baets J, Scherer SS, Ambrozaityte L, Utkus A, Jordanova A, Peeters K. HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling. Orphanet J Rare Dis. 2022 Oct 14;17(1):374. doi: 10.1186/s13023-022-02541-0. PMID: 36242072; PMCID: PMC9569031.
Neuromyotonia and axonal neuropathy (NMAN) is a rare peripheral neuropathy and subtype of Charcot-Marie-Tooth disease. NMAN is characterized by damage to nerve axons (nerve ends) and overactivation of peripheral nerves. The disease is caused by mutations in the HINT1 gene, which are among the most common causes of recessive neuropathy. Most patients with NMAN are found to have an HINT1 variant that has spread throughout Eurasia and America. In this study, researchers performed the first analysis of NMAN in Lithuania. The team identified eight patients from 46 families with variations in the HINT1 gene, including a new variant. Study participants showed typical symptoms associated with NMAN (such as motor impairment in lower limbs), but also some atypical features (such as developmental delay and mood problems). In addition to expanding the understanding of NMAN, these findings may help diagnose inherited neuropathies in the Baltic region and beyond. Authors note that study results could also impact future therapeutic strategies, as a patient’s specific genetic mutation will determine their treatment options.
Record CJ, Alsukhni RA, Curro R, Kaski D, Rubin JS, Morris HR, Cortese A, Iodice V, Reilly MM. Severe distinct dysautonomia in RFC1-related disease associated with Parkinsonism. J Peripher Nerv Syst. 2022 Sep 30. doi: 10.1111/jns.12515. Epub ahead of print. PMID: 36177974.
Recently, biallelic (both alleles of a single gene) expansions in the RFC1 gene have been found to cause several neurological disorders in addition to a form of inherited neuropathy known as CANVAS (cerebellar ataxia, neuropathy, and vestibular areflexia syndrome). There are also descriptions of Parkinsonism and a multiple system atrophy (MSA)-like syndrome. However, the profile of the autonomic nervous system in a patient with CANVAS/MSA-like overlap syndrome had not yet been fully characterized. In this study, researchers present the first detailed description of autonomic characteristics in a patient with multisystem RFC1-related disease. Initially presenting with CANVAS, the patient developed Parkinsonism, cardiovascular failure, and severe autonomic failure similar to classical MSA. Results suggest that patients with an MSA-like syndrome, plus signs of vestibular (balance) failure or sensory neuropathy, should be tested for the RFC1 expansion. Authors also note that the link between MSA and CANVAS should be further explored.
Eichinger K, Sowden JE, Burns J, McDermott MP, Krischer J, Thornton J, Pareyson D, Scherer SS, Shy ME, Reilly MM, Herrmann DN. Accelerate Clinical Trials in Charcot-Marie-Tooth Disease (ACT-CMT): A Protocol to Address Clinical Trial Readiness in CMT1A. Front Neurol. 2022 Jun 27;13:930435. doi: 10.3389/fneur.2022.930435. eCollection 2022.
Yiu EM, Bray P, Baets J, Baker SK, Barisic N, de Valle K, Estilow T, Farrar MA, Finkel RS, Haberlová J, Kennedy RA, Moroni I, Nicholson GA, Ramchandren S, Reilly MM, Rose K, Shy ME, Siskind CE, Yum SW, Menezes MP, Ryan MM, Burns J. Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease. J Neurol Neurosurg Psychiatry. 2022 May;93(5):530-538. doi: 10.1136/jnnp-2021-328483. Epub 2022 Feb 9.
Record CJ, Pipis M, Blake J, Curro R, Lunn MP, Rossor AM, Laura M, Cortese A, Reilly MM. Unusual upper limb features in SORD neuropathy. J Peripher Nerv Syst. 2022 Apr 13. doi: 10.1111/jns.12492. Online ahead of print.
Morikawa M, Jerath NU, Ogawa T, Morikawa M, Tanaka Y, Shy ME, Zuchner S, Hirokawa N. A neuropathy-associated kinesin KIF1A mutation hyper-stabilizes the motor-neck interaction during the ATPase cycle. EMBO J. 2022 Mar 1;41(5):e108899. doi: 10.15252/embj.2021108899. Epub 2022 Feb 8. PMID: 35132656.
Charcot-Marie-Tooth (CMT) is a group of inherited, degenerative disorders affecting the nerves that travel to the feet and hands, causing muscle weakness, problems with balance and sensation as well as other symptoms. Axonal transport (a process essential for nerve development, function, and survival) mediated by the KIF1A gene is driven by interaction cycles between the kinesin (motor protein)’s motor and neck domains. In this study, researchers characterized a KIF1A mutant identified in a family with axonal-type CMT and other cases of human neuropathies. This characterization reveals that dynamic dissociation of the motor-neck interaction via the β7 (integrin protein) domain is essential for neuronal function.
Pipis M, Cortese A, Polke JM, Poh R, Vandrovcova J, Laura M, Skorupinska M, Jacquier A, Juntas-Morales R, Latour P, Petiot P, Sole G, Fromes Y, Shah S, Blake J, Choi BO, Chung KW, Stojkovic T, Rossor AM, Reilly MM. Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype. J Neurol Neurosurg Psychiatry. 2022 Jan;93(1):48-56. doi: 10.1136/jnnp-2021-327186. Epub 2021 Sep 13. PMID: 34518334; PMCID: PMC8685631.
Rossor AM, Kapoor M, Wellington H, Spaulding E, Sleigh JN, Burgess RW, Laura M, Zetterberg H, Bacha A, Wu X, Heslegrave A, Shy ME, Reilly MM. A longitudinal and cross-sectional study of plasma neurofilament light chain concentration in Charcot-Marie-Tooth disease. J Peripher Nerv Syst. 2021 Dec 1. doi: 10.1111/jns.12477. Online ahead of print.
Kapoor M, Compton L, Rossor A, Hutton E, Manji H, Lunn M, Reilly M, Carr A. An approach to assessing immunoglobulin dependence in chronic inflammatory demyelinating inflammatory polyneuropathy. J Peripher Nerv Syst. 2021 Dec;26(4):461-468. doi: 10.1111/jns.12470. Epub 2021 Oct 20.
Ramdharry GM, Wallace A, Hennis P, Dewar E, Dudziec M, Jones K, Pietrusz A, Reilly MM, Hanna MG. Cardiopulmonary exercise performance and factors associated with aerobic capacity in neuromuscular diseases. Muscle Nerve. 2021 Dec;64(6):683-690. doi: 10.1002/mus.27423. Epub 2021 Oct 6.
Gilley J, Jackson O, Pipis M, Estiar MA, Al-Chalabi A, Danzi MC, van Eijk KR, Goutman SA, Harms MB, Houlden H, Iacoangeli A, Kaye J, Lima L; Queen Square Genomics; Ravits J, Rouleau GA, Schüle R, Xu J, Züchner S, Cooper-Knock J, Gan-Or Z, Reilly MM, Coleman MP. Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders. Elife. 2021 Nov 19;10:e70905. doi: 10.7554/eLife.70905. PMID: 34796871; PMCID: PMC8735862.
Baty K, Farrugia ME, Hopton S, Falkous G, Schaefer AM, Stewart W, Willison HJ, Reilly MM, Blakely EL, Taylor RW, Ng YS. A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicity. Neuromuscul Disord. 2021 Nov;31(11):1186-1193. doi: 10.1016/j.nmd.2021.05.014. Epub 2021 Jun 4.
McCray BA, Scherer SS. Axonal Charcot-Marie-Tooth Disease: from Common Pathogenic Mechanisms to Emerging Treatment Opportunities. Neurotherapeutics. 2021 Oct 4. doi: 10.1007/s13311-021-01099-2. Online ahead of print.
In this review paper, two researchers associated with the Inherited Neuropathies Consortium offer an overview of Charcot-Marie-Tooth disease type 2 (CMT2), a group of genetic neuropathies that primarily cause axonal degeneration (damage to the portion of the nerve that carries nerve impulses away from the cell body) rather than demyelination (damage to the protective covering that surrounds nerve fibers). They review gene identification efforts over the past three decades and emerging treatment strategies. Promising strategies include specific approaches for single forms of neuropathy as well as more general approaches that have the potential to treat multiple types of neuropathy. The INC is particularly pleased because coauthor Brett Andrew McCray, MD, PhD, of Johns Hopkins is a recent INC scholar who was supported by a Career Enhancement Award.
Spaulding EL, Hines TJ, Bais P, Tadenev ALD, Schneider R, Jewett D, Pattavina B, Pratt SL, Morelli KH, Stum MG, Hill DP, Gobet C, Pipis M, Reilly MM, Jennings MJ, Horvath R, Bai Y, Shy ME, Alvarez-Castelao B, Schuman EM, Bogdanik LP, Storkebaum E, Burgess RW. The integrated stress response contributes to tRNA synthetase-associated peripheral neuropathy. Science. 2021 Sep 3;373(6559):1156-1161. doi: 10.1126/science.abb3414. Epub 2021 Sep 1.
Researchers have identified a pathway common to several types of axonal peripheral neuropathies (APNs), including multiple forms of Charcot-Marie-Tooth (CMT) disease, and have identified a possible drug target that could help treat the disorder. The research was led by Robert W. Burgess, PhD, Emily Spaulding, and their team at The Jackson Laboratory in Maine. Researchers with the RDCRN’s Inherited Neuropathies Consortium (INC) contributed by providing patient material to add a human disease component to the team’s efforts. “The serum samples provide by the INC were a way for us to test whether the same mechanisms we found in our mouse models were also involved in patients,” says Burgess, senior author on the study. “As an unexpected bonus, it led to the identification of GDF15 as a possible biomarker, which is being investigated further.” The study, which was published in Science, was funded in part by the National Institute of Neurological Disorders and Stroke (NINDS), part of the National Institutes of Health, and featured in a recent NIH media advisory. APNs cause the body’s peripheral nerves to wither and degenerate, which makes them unable to send messages to the muscles or to transmit sensory signals back to the spinal cord. While usually not life-threatening, APNs typically result in some measure of disability. Genetic studies have shown that many APNs are caused by mutations that affect how proteins are built within cells. Proteins are made by first transcribing the DNA code into messenger RNA (mRNA). The mRNA is then transcribed by transfer RNA (tRNA) molecules that string together amino acids in the proper sequence, like building a train track. The mutations underlying APNs affect the enzymes responsible for adding amino acid blocks to tRNA. Previous work in flies showed that these mutations inhibit cells’ ability to make proteins. This causes stress within the motor neurons affected by APNs, particularly through a mechanism called the integrated stress response (ISR), ultimately leading to degeneration of nerve structures. Of the proteins previously implicated in the activation of the ISR, one of them, GCN2, had also been connected to defects in protein translation. Using a mouse model, the researchers looked at APN mice that were also missing GCN2. These mice began to develop symptoms of the disease around two weeks of age, but the disease did not progress much beyond the initial stages. When the APN mice were instead treated with a drug to stop GCN2 from working, they showed improvements in many symptoms.
Cintra VP, Dohrn MF, Tomaselli PJ, Figueiredo FB, Marques SE, Camargos ST, Barbosa LSM, P Rebelo A, Abreu L, Danzi M, Marques W Jr, Zuchner S. Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort. J Neurol Sci. 2021 Aug 15;427:117498. doi: 10.1016/j.jns.2021.117498. Epub 2021 May 18.
Heredity sensory neuropathies (HSNs) are rare neurological disorders where peripheral neurons and axons are affected, leading to delayed sensations of pain, delayed healing, infections, osteomyelitis, and infections. Researchers performed a whole genome sequencing (WGS) study of 23 unrelated Brazilian families diagnosed with hereditary sensory neuropathies. They detected pathogenic variants in 21.7% of families that caused symptoms such as congenital insensitivity to pain, sensory deficits, neuropathic pain, and recurrent ulcerations. Authors suggest that most of the cases could be explained by yet to be discovered genes or unusual alleles. They say that first mutational screen in a Brazilian HSN cohort offers insights for genotype-phenotype correlations, reducing misdiagnoses, and providing early treatment considerations.
Wang H, Davison M, Wang K, Xia TH, Call KM, Luo J, Wu X, Zuccarino R, Bacha A, Bai Y, Gutmann L, Feely SME, Grider T, Rossor AM, Reilly MM, Shy ME, Svaren J. MicroRNAs as Biomarkers of Charcot-Marie-Tooth Disease Type 1A. Neurology. 2021 Aug 3;97(5):e489-e500. doi: 10.1212/WNL.0000000000012266. Epub 2021 May 24.
Clark AJ, Kugathasan U, Baskozos G, Priestman DA, Fugger N, Lone MA, Othman A, Chu KH, Blesneac I, Wilson ER, Laura M, Kalmar B, Greensmith L, Hornemann T, Platt FM, Reilly MM, Bennett DL. An iPSC model of hereditary sensory neuropathy-1 reveals L-serine-responsive deficits in neuronal ganglioside composition and axoglial interactions. Cell Rep Med. 2021 Jul 21;2(7):100345. doi: 10.1016/j.xcrm.2021.100345. eCollection 2021 Jul 20.
Hamedani AG, Wilson JA, Avery RA, Scherer SS. Optic Neuropathy in Charcot-Marie-Tooth Disease. J Neuro Ophthalmol. 2021 Jun 1;41(2):233-238. doi: 10.1097/WNO.0000000000000965.
Ramdharry G, Singh D, Gray J, Kozyra D, Skorupinska M, Reilly MM, Laura M. A prospective study on surgical management of foot deformities in Charcot Marie tooth disease. J Peripher Nerv Syst. 2021 Jun;26(2):187-192. doi: 10.1111/jns.12437. Epub 2021 Mar 13.
Rebelo AP, Cortese A, Abraham A, Eshed-Eisenbach Y, Shner G, Vainshtein A, Buglo E, Camarena V, Gaidosh G, Shiekhattar R, Abreu L, Courel S, Burns DK, Bai Y, Bacon C, Feely SME, Castro D, Peles E, Reilly MM, Shy ME, Zuchner S. A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement. Brain. 2021 May 7;144(4):1197-1213. doi: 10.1093/brain/awab019.
Howard P, Feely SME, Grider T, Bacha A, Scarlato M, Fazio R, Quattrini A, Shy ME, Previtali SC. Loss of function MPZ mutation causes milder CMT1B neuropathy. J Peripher Nerv Syst. 2021 May 7. doi: 10.1111/jns.12452. Online ahead of print.
Jurkute N, Shanmugarajah PD, Hadjivassiliou M, Higgs J, Vojcic M, Horrocks I, Nadjar Y, Touitou V, Lenaers G, Poh R, Acheson J, Robson AG, Raymond FL, Reilly MM, Yu-Wai-Man P, Moore AT, Webster AR, Arno G; Genomics England Research Consortium. Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature. Invest Ophthalmol Vis Sci. 2021 May 3;62(6):2. doi: 10.1167/iovs.62.6.2.
Vujovic D, Cornblath DR, Scherer SS. A recurrent MORC2 mutation causes Charcot-Marie-Tooth disease type 2Z. J Peripher Nerv Syst. 2021 Apr 12. doi: 10.1111/jns.12443. Online ahead of print.
Sullivan R, Yau WY, Chelban V, Rossi S, Dominik N, O'Connor E, Hardy J, Wood N, Cortese A, Houlden H. RFC1-related ataxia is a mimic of early multiple system atrophy. J Neurol Neurosurg Psychiatry. 2021 Feb 9;92(4):444-6. doi: 10.1136/jnnp-2020-325092. Online ahead of print.
Ramchandren S, Wu TT, Finkel RS, Siskind CE, Feely SME, Burns J, Reilly MM, Estilow T, Shy ME; Childhood CMT Study Group. Development and Validation of the Pediatric Charcot-Marie-Tooth Disease Quality of Life Outcome Measure. Ann Neurol. 2021 Feb;89(2):369-379. doi: 10.1002/ana.25966. Epub 2020 Dec 7.
Zuccarino R, Anderson KM, Shy ME, Wilken JM. Satisfaction with ankle foot orthoses in individuals with Charcot-Marie-Tooth disease. Muscle Nerve. 2021 Jan;63(1):40-45. doi: 10.1002/mus.27027. Epub 2020 Aug 26.
Senderek J, Lassuthova P, Kabzińska D, Abreu L, Baets J, Beetz C, Braathen GJ, Brenner D, Dalton J, Dankwa L, Deconinck T, De Jonghe P, Dräger B, Eggermann K, Ellis M, Fischer C, Stojkovic T, Herrmann DN, Horvath R, Høyer H, Iglseder S, Kennerson M, Kinslechner K, Kohler JN, Kurth I, Laing NG, Lamont PJ, Wolfgang N L, Ludolph A, Marques W Jr, Nicholson G, Ong R, Petri S, Ravenscroft G, Rebelo A, Ricci G, Rudnik-Schöneborn S, Schirmacher A, Schlotter-Weigel B, Schoels L, Schüle R, Synofzik M, Francou B, Strom TM, Wagner J, Walk D, Wanschitz J, Weinmann D, Weishaupt J, Wiessner M, Windhager R, Young P, Züchner S, Toegel S, Seeman P, Kochański A, Auer-Grumbach M. The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME. Neurology. 2020 Dec 15;95(24):e3163-e3179. doi: 10.1212/WNL.0000000000011132. Epub 2020 Nov 3.
Pipis M, Feely SME, Polke JM, Skorupinska M, Perez L, Shy RR, Laura M, Morrow JM, Moroni I, Pisciotta C, Taroni F, Vujovic D, Lloyd TE, Acsadi G, Yum SW, Lewis RA, Finkel RS, Herrmann DN, Day JW, Li J, Saporta M, Sadjadi R, Walk D, Burns J, Muntoni F, Ramchandren S, Horvath R, Johnson NE, Züchner S, Pareyson D, Scherer SS, Rossor AM, Shy ME, Reilly MM; Inherited Neuropathies Consortium - Rare Disease Clinical Research Network (INC-RDCRN). Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study. Brain. 2020 Dec 1;143(12):3589-3602. doi: 10.1093/brain/awaa323.
Bis-Brewer DM, Gan-Or Z, Sleiman P; Inherited Neuropathy Consortium; Hakonarson H, Fazal S, Courel S, Cintra V, Tao F, Estiar MA, Tarnopolsky M, Boycott KM, Yoon G, Suchowersky O, Dupré N, Cheng A, Lloyd TE, Rouleau G, Schüle R, Züchner S. Assessing non-Mendelian inheritance in inherited axonopathies. Genet Med. 2020 Dec;22(12):2114-2119. doi: 10.1038/s41436-020-0924-0. Epub 2020 Aug 3.
Reilly MM, Rossor AM. Humans: the ultimate animal models. J Neurol Neurosurg Psychiatry. 2020 Nov;91(11):1132-1136. doi: 10.1136/jnnp-2020-323016. Epub 2020 Aug 7.
Cortese A, Callegari I, Currò R, Vegezzi E, Colnaghi S, Versino M, Alfonsi E, Cosentino G, Valente E, Gana S, Tassorelli C, Pichiecchio A, Rossor AM, Bugiardini E, Biroli A, Di Capua D, Houlden H, Reilly MM. Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic. J Neurol Neurosurg Psychiatry. 2020 Nov;91(11):1237-1238. doi: 10.1136/jnnp-2020-323719. Epub 2020 Sep 17.
Franco A, Dang X, Walton EK, Ho JN, Zablocka B, Ly C, Miller TM, Baloh RH, Shy ME, Yoo AS, Dorn GW 2nd. Burst mitofusin activation reverses neuromuscular dysfunction in murine CMT2A. Elife. 2020 Oct 19;9:e61119. doi: 10.7554/eLife.61119.
Edgar JR, Ho AK, Laurá M, Horvath R, Reilly MM, Luzio JP, Roberts RC. A dysfunctional endolysosomal pathway common to two sub-types of demyelinating Charcot-Marie-Tooth disease. Acta Neuropathol Commun. 2020 Oct 15;8(1):165. doi: 10.1186/s40478-020-01043-z.
Scriba CK, Beecroft SJ, Clayton JS, Cortese A, Sullivan R, Yau WY, Dominik N, Rodrigues M, Walker E, Dyer Z, Wu TY, Davis MR, Chandler DC, Weisburd B, Houlden H, Reilly MM, Laing NG, Lamont PJ, Roxburgh RH, Ravenscroft G. A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families. Brain. 2020 Oct 1;143(10):2904-2910. doi: 10.1093/brain/awaa263.
Beecroft SJ, Cortese A, Sullivan R, Yau WY, Dyer Z, Wu TY, Mulroy E, Pelosi L, Rodrigues M, Taylor R, Mossman S, Leadbetter R, Cleland J, Anderson T, Ravenscroft G, Laing NG, Houlden H, Reilly MM, Roxburgh RH. A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele. Brain. 2020 Sep 1;143(9):2673-2680. doi: 10.1093/brain/awaa203.
Bray P, Cornett KMD, Estilow T, Pareyson D, Zuccarino R, Skorupinska M, Pipis M, Sowden JE, Scherer S, Reilly MM, Shy ME, Herrmann DN, Burns J, Eichinger KJ. Reliability of the Charcot-Marie-Tooth functional outcome measure. J Peripher Nerv Syst. 2020 Sep;25(3):288-291. doi: 10.1111/jns.12406. Epub 2020 Aug 26.
Pisciotta C, Ciafaloni E, Zuccarino R, Calabrese D, Saveri P, Fenu S, Tramacere I, Genovese F, Dilek N, Johnson NE, Heatwole C, Herrmann DN, Pareyson D; ACT-CMT Study Group. Validation of the Italian version of the Charcot-Marie-Tooth Health Index. J Peripher Nerv Syst. 2020 Sep;25(3):292-296. doi: 10.1111/jns.12397. Epub 2020 Jun 24.
Sullivan R, Yau WY, Chelban V, Rossi S, O'Connor E, Wood NW, Cortese A, Houlden H. RFC1 Intronic Repeat Expansions Absent in Pathologically Confirmed Multiple Systems Atrophy. Mov Disord. 2020 Jul;35(7):1277-1279. doi: 10.1002/mds.28074. Epub 2020 Apr 24.
Zuccarino R, Prada V, Moroni I, Pagliano E, Foscan M, Robbiano G, Pisciotta C, Cornett K, Shy R, Schenone A, Pareyson D, Shy M, Burns J. Validation of the Italian version of the Charcot-Marie-Tooth disease Pediatric Scale. J Peripher Nerv Syst. 2020 Jun;25(2):138-142. doi: 10.1111/jns.12383. Epub 2020 May 26.
Cortese A, Zhu Y, Rebelo AP, Negri S, Courel S, Abreu L, Bacon CJ, Bai Y, Bis-Brewer DM, Bugiardini E, Buglo E, Danzi MC, Feely SME, Athanasiou-Fragkouli A, Haridy NA; Inherited Neuropathy Consortium, Isasi R, Khan A, Laurà M, Magri S, Pipis M, Pisciotta C, Powell E, Rossor AM, Saveri P, Sowden JE, Tozza S, Vandrovcova J, Dallman J, Grignani E, Marchioni E, Scherer SS, Tang B, Lin Z, Al-Ajmi A, Schüle R, Synofzik M, Maisonobe T, Stojkovic T, Auer-Grumbach M, Abdelhamed MA, Hamed SA, Zhang R, Manganelli F, Santoro L, Taroni F, Pareyson D, Houlden H, Herrmann DN, Reilly MM, Shy ME, Zhai RG, Zuchner S. Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. Nat Genet. 2020 May;52(5):473-481. doi: 10.1038/s41588-020-0615-4. Epub 2020 May 4.
Saveri P, De Luca M, Nisi V, Pisciotta C, Romano R, Piscosquito G, Reilly MM, Polke JM, Cavallaro T, Fabrizi GM, Fossa P, Cichero E, Lombardi R, Lauria G, Magri S, Taroni F, Pareyson D, Bucci C. Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation. Cells. 2020 Apr 21;9(4):1028. doi: 10.3390/cells9041028.
Fridman V, Sillau S, Acsadi G, Bacon C, Dooley K, Burns J, Day J, Feely S, Finkel RS, Grider T, Gutmann L, Herrmann DN, Kirk CA, Knause SA, Laurá M, Lewis RA, Li J, Lloyd TE, Moroni I, Muntoni F, Pagliano E, Pisciotta C, Piscosquito G, Ramchandren S, Saporta M, Sadjadi R, Shy RR, Siskind CE, Sumner CJ, Walk D, Wilcox J, Yum SW, Züchner S, Scherer SS, Pareyson D, Reilly MM, Shy ME; Inherited Neuropathies Consortium—Rare Diseases Clinical Research Network (INC-RDCRN). A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores. Neurology. 2020 Mar 3;94(9):e884-e896. doi: 10.1212/WNL.0000000000009035. Epub 2020 Feb 11.
Deng S, Feely SME, Shi Y, Zhai H, Zhan L, Siddique T, Deng HX, Shy ME. Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot-Marie-Tooth Disease Type 2. Neuromolecular Med. 2020 Mar;22(1):68-72. doi: 10.1007/s12017-019-08564-4. Epub 2019 Aug 29.
Rossor AM, Shy ME, Reilly MM. Are we prepared for clinical trials in Charcot-Marie-Tooth disease?. Brain Res. 2020 Feb 15;1729:146625. doi: 10.1016/j.brainres.2019.146625. Epub 2019 Dec 30.
Cortese A, Tozza S, Yau WY, Rossi S, Beecroft SJ, Jaunmuktane Z, Dyer Z, Ravenscroft G, Lamont PJ, Mossman S, Chancellor A, Maisonobe T, Pereon Y, Cauquil C, Colnaghi S, Mallucci G, Curro R, Tomaselli PJ, Thomas-Black G, Sullivan R, Efthymiou S, Rossor AM, Laurá M, Pipis M, Horga A, Polke J, Kaski D, Horvath R, Chinnery PF, Marques W, Tassorelli C, Devigili G, Leonardis L, Wood NW, Bronstein A, Giunti P, Züchner S, Stojkovic T, Laing N, Roxburgh RH, Houlden H, Reilly MM. Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion. Brain. 2020 Feb 1;143(2):480-490. doi: 10.1093/brain/awz418.
Bis-Brewer DM, Fazal S, Züchner S. Genetic modifiers and non-Mendelian aspects of CMT. Brain Res. 2020 Jan 1;1726:146459. doi: 10.1016/j.brainres.2019.146459. Epub 2019 Sep 13.
Stanek D, Bis-Brewer DM, Saghira C, Danzi MC, Seeman P, Lassuthova P, Zuchner S. Prot2HG: a database of protein domains mapped to the human genome. Database (Oxford). 2020 Jan 1;2020:baz161. doi: 10.1093/database/baz161.
Wang H, Davison M, Wang K, Xia TH, Kramer M, Call K, Luo J, Wu X, Zuccarino R, Bacon C, Bai Y, Moran JJ, Gutmann L, Feely SME, Grider T, Rossor AM, Reilly MM, Svaren J, Shy ME. Transmembrane protease serine 5: a novel Schwann cell plasma marker for CMT1A. Ann Clin Transl Neurol. 2020 Jan;7(1):69-82. doi: 10.1002/acn3.50965. Epub 2019 Dec 12.
Lee DC, Meyer-Schuman R, Bacon C, Shy ME, Antonellis A, Scherer SS. A recurrent GARS mutation causes distal hereditary motor neuropathy. J Peripher Nerv Syst. 2019 Dec;24(4):320-323. doi: 10.1111/jns.12353. Epub 2019 Nov 22.
Kapoor M, Foiani M, Heslegrave A, Zetterberg H, Lunn MP, Malaspina A, Gillmore JD, Rossor AM, Reilly MM. Plasma neurofilament light chain concentration is increased and correlates with the severity of neuropathy in hereditary transthyretin amyloidosis. J Peripher Nerv Syst. 2019 Dec;24(4):314-319. doi: 10.1111/jns.12350. Epub 2019 Oct 14.
Lee DC, Dankwa L, Edmundson C, Cornblath DR, Scherer SS. Yield of next-generation neuropathy gene panels in axonal neuropathies. J Peripher Nerv Syst. 2019 Dec;24(4):324-329. doi: 10.1111/jns.12356. Epub 2019 Nov 19.
Cortese A, Lombardi R, Briani C, Callegari I, Benedetti L, Manganelli F, Luigetti M, Ferrari S, Clerici AM, Marfia GA, Rigamonti A, Carpo M, Fazio R, Corbo M, Mazzeo A, Giannini F, Cosentino G, Zardini E, Currò R, Gastaldi M, Vegezzi E, Alfonsi E, Berardinelli A, Kouton L, Manso C, Giannotta C, Doneddu P, Dacci P, Piccolo L, Ruiz M, Salvalaggio A, De Michelis C, Spina E, Topa A, Bisogni G, Romano A, Mariotto S, Mataluni G, Cerri F, Stancanelli C, Sabatelli M, Schenone A, Marchioni E, Lauria G, Nobile-Orazio E, Devaux J, Franciotta D. Antibodies to neurofascin, contactin-1, and contactin-associated protein 1 in CIDP: Clinical relevance of IgG isotype. Neurol Neuroimmunol Neuroinflamm. 2019 Nov 21;7(1):e639. doi: 10.1212/NXI.0000000000000639. Print 2020 Jan.
Pipis M, Rossor AM, Laura M, Reilly MM. Next-generation sequencing in Charcot-Marie-Tooth disease: opportunities and challenges. Nat Rev Neurol. 2019 Nov;15(11):644-656. doi: 10.1038/s41582-019-0254-5. Epub 2019 Oct 3.
Wagner M, Osborn DPS, Gehweiler I, Nagel M, Ulmer U, Bakhtiari S, Amouri R, Boostani R, Hentati F, Hockley MM, Hölbling B, Schwarzmayr T, Karimiani EG, Kernstock C, Maroofian R, Müller-Felber W, Ozkan E, Padilla-Lopez S, Reich S, Reichbauer J, Darvish H, Shahmohammadibeni N, Tafakhori A, Vill K, Zuchner S, Kruer MC, Winkelmann J, Jamshidi Y, Schüle R. Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia. Nat Commun. 2019 Oct 21;10(1):4790. doi: 10.1038/s41467-019-12620-9.
Laurá M, Pipis M, Rossor AM, Reilly MM. Charcot-Marie-Tooth disease and related disorders: an evolving landscape. Curr Opin Neurol. 2019 Oct;32(5):641-650. doi: 10.1097/WCO.0000000000000735.
Estilow T, Glanzman AM, Burns J, Harrington A, Cornett K, Menezes MP, Shy R, Moroni I, Pagliano E, Pareyson D, Bhandari T, Muntoni F, Laurá M, Reilly MM, Finkel RS, Eichinger KJ, Herrmann DN, Troutman G, Bray P, Halaki M, Shy ME, Yum SW; CMTPedS STUDY GROUP. Balance impairment in pediatric charcot-marie-tooth disease. Muscle Nerve. 2019 Sep;60(3):242-249. doi: 10.1002/mus.26500. Epub 2019 May 15.
Kugathasan U, Evans MRB, Morrow JM, Sinclair CDJ, Thornton JS, Yousry TA, Hornemann T, Suriyanarayanan S, Owusu-Ansah K, Lauria G, Lombardi R, Polke JM, Wilson E, Bennett DLH, Houlden H, Hanna MG, Blake JC, Laura M, Reilly MM. Development of MRC Centre MRI calf muscle fat fraction protocol as a sensitive outcome measure in Hereditary Sensory Neuropathy Type 1. J Neurol Neurosurg Psychiatry. 2019 Aug;90(8):895-906. doi: 10.1136/jnnp-2018-320198. Epub 2019 Apr 17.
Smith GA, Lin TH, Sheehan AE, Van der Goes van Naters W, Neukomm LJ, Graves HK, Bis-Brewer DM, Züchner S, Freeman MR. Glutathione S-Transferase Regulates Mitochondrial Populations in Axons through Increased Glutathione Oxidation. Neuron. 2019 Jul 3;103(1):52-65.e6. doi: 10.1016/j.neuron.2019.04.017. Epub 2019 May 14.
Pareyson D, Stojkovic T, Reilly MM, Leonard-Louis S, Laurà M, Blake J, Parman Y, Battaloglu E, Tazir M, Bellatache M, Bonello-Palot N, Lévy N, Sacconi S, Guimarães-Costa R, Attarian S, Latour P, Solé G, Megarbane A, Horvath R, Ricci G, Choi BO, Schenone A, Gemelli C, Geroldi A, Sabatelli M, Luigetti M, Santoro L, Manganelli F, Quattrone A, Valentino P, Murakami T, Scherer SS, Dankwa L, Shy ME, Bacon CJ, Herrmann DN, Zambon A, Tramacere I, Pisciotta C, Magri S, Previtali SC, Bolino A. A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs). Ann Neurol. 2019 Jul;86(1):55-67. doi: 10.1002/ana.25500. Epub 2019 May 27.
Rattay TW, Lindig T, Baets J, Smets K, Deconinck T, Söhn AS, Hörtnagel K, Eckstein KN, Wiethoff S, Reichbauer J, Döbler-Neumann M, Krägeloh-Mann I, Auer-Grumbach M, Plecko B, Münchau A, Wilken B, Janauschek M, Giese AK, De Bleecker JL, Ortibus E, Debyser M, Lopez de Munain A, Pujol A, Bassi MT, D'Angelo MG, De Jonghe P, Züchner S, Bauer P, Schöls L, Schüle R. FAHN/SPG35: a narrow phenotypic spectrum across disease classifications. Brain. 2019 Jun 1;142(6):1561-1572. doi: 10.1093/brain/awz102.
Phillips J, Courel S, Rebelo AP, Bis-Brewer DM, Bardakjian T, Dankwa L, Hamedani AG, Zuchner S, Scherer SS. POLG mutations presenting as Charcot-Marie-Tooth disease. J Peripher Nerv Syst. 2019 Jun;24(2):213-218. doi: 10.1111/jns.12313. Epub 2019 Apr 10.
Svaren J, Moran JJ, Wu X, Zuccarino R, Bacon C, Bai Y, Ramesh R, Gutmann L, Anderson DM, Pavelec D, Shy ME. Schwann cell transcript biomarkers for hereditary neuropathy skin biopsies. Ann Neurol. 2019 Jun;85(6):887-898. doi: 10.1002/ana.25480. Epub 2019 Apr 22.
Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau WY, Humphrey J, Jaunmuktane Z, Sivakumar P, Polke J, Ilyas M, Tribollet E, Tomaselli PJ, Devigili G, Callegari I, Versino M, Salpietro V, Efthymiou S, Kaski D, Wood NW, Andrade NS, Buglo E, Rebelo A, Rossor AM, Bronstein A, Fratta P, Marques WJ, Züchner S, Reilly MM, Houlden H. Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Nat Genet. 2019 May;51(5):920. doi: 10.1038/s41588-019-0422-y.
Horga A, Bugiardini E, Manole A, Bremner F, Jaunmuktane Z, Dankwa L, Rebelo AP, Woodward CE, Hargreaves IP, Cortese A, Pittman AM, Brandner S, Polke JM, Pitceathly RDS, Züchner S, Hanna MG, Scherer SS, Houlden H, Reilly MM. Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy. Neurol Genet. 2019 Apr 1;5(2):e322. doi: 10.1212/NXG.0000000000000322. eCollection 2019 Apr.
Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau WY, Humphrey J, Jaunmuktane Z, Sivakumar P, Polke J, Ilyas M, Tribollet E, Tomaselli PJ, Devigili G, Callegari I, Versino M, Salpietro V, Efthymiou S, Kaski D, Wood NW, Andrade NS, Buglo E, Rebelo A, Rossor AM, Bronstein A, Fratta P, Marques WJ, Züchner S, Reilly MM, Houlden H. Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Nat Genet. 2019 Apr;51(4):649-658. doi: 10.1038/s41588-019-0372-4. Epub 2019 Mar 29.
Tao F, Beecham GW, Rebelo AP, Svaren J, Blanton SH, Moran JJ, Lopez-Anido C, Morrow JM, Abreu L, Rizzo D, Kirk CA, Wu X, Feely S, Verhamme C, Saporta MA, Herrmann DN, Day JW, Sumner CJ, Lloyd TE, Li J, Yum SW, Taroni F, Baas F, Choi BO, Pareyson D, Scherer SS, Reilly MM, Shy ME, Züchner S; Inherited Neuropathy Consortium. Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A. Ann Neurol. 2019 Mar;85(3):316-330. doi: 10.1002/ana.25426.
Bis-Brewer DM, Danzi MC, Wuchty S, Züchner S. A network biology approach to unraveling inherited axonopathies. Sci Rep. 2019 Feb 8;9(1):1692. doi: 10.1038/s41598-018-37119-z.
Dankwa L, Richardson J, Motley WW, Scavina M, Courel S, Bardakjian T, Züchner S, Scherer SS. A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family. Neuromuscul Disord. 2019 Feb;29(2):134-137. doi: 10.1016/j.nmd.2018.12.008. Epub 2018 Dec 21.
Bardakjian T, Scherer SS. A MT-ATP6 Mutation Causes a Slowly Progressive Myeloneuropathy. J Neuromuscul Dis. 2019;6(3):385-387. doi: 10.3233/JND-190400.
Kapoor M, Rossor AM, Laura M, Reilly MM. Clinical Presentation, Diagnosis and Treatment of TTR Amyloidosis. J Neuromuscul Dis. 2019;6(2):189-199. doi: 10.3233/JND-180371.
Tao F, Beecham GW, Rebelo AP, Blanton SH, Moran JJ, Lopez-Anido C, Svaren J, Abreu L, Rizzo D, Kirk CA, Wu X, Feely S, Verhamme C, Saporta MA, Herrmann DN, Day JW, Sumner CJ, Lloyd TE, Li J, Yum SW, Taroni F, Baas F, Choi BO, Pareyson D, Scherer SS, Reilly MM, Shy ME, Züchner S; Inherited Neuropathy Consortium. Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study. J Neuromuscul Dis. 2019;6(2):201-211. doi: 10.3233/JND-190377.
Mandarakas MR, Menezes MP, Rose KJ, Shy R, Eichinger K, Foscan M, Estilow T, Kennedy R, Herbert K, Bray P, Refshauge K, Ryan MM, Yiu EM, Farrar M, Sampaio H, Moroni I, Pagliano E, Pareyson D, Yum SW, Herrmann DN, Acsadi G, Shy ME, Burns J, Sanmaneechai O. Development and validation of the Charcot-Marie-Tooth Disease Infant Scale. Brain. 2018 Dec 1;141(12):3319-3330. doi: 10.1093/brain/awy280.
Tomaselli PJ, Horga A, Rossor AM, Jaunmuktane Z, Cortese A, Blake JC, Zarate-Lopez N, Houlden H, Reilly MM. IGHMBP2 mutation associated with organ-specific autonomic dysfunction. Neuromuscul Disord. 2018 Dec;28(12):1012-1015. doi: 10.1016/j.nmd.2018.08.010. Epub 2018 Aug 29.
Abrams AJ, Fontanesi F, Tan NBL, Buglo E, Campeanu IJ, Rebelo AP, Kornberg AJ, Phelan DG, Stark Z, Zuchner S. Insights into the genotype-phenotype correlation and molecular function of SLC25A46. Hum Mutat. 2018 Dec;39(12):1995-2007. doi: 10.1002/humu.23639. Epub 2018 Sep 17.
Synofzik M, Helbig KL, Harmuth F, Deconinck T, Tanpaiboon P, Sun B, Guo W, Wang R, Palmaer E, Tang S, Schaefer GB, Gburek-Augustat J, Züchner S, Krägeloh-Mann I, Baets J, de Jonghe P, Bauer P, Chen SRW, Schöls L, Schüle R. De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function. Eur J Hum Genet. 2018 Nov;26(11):1623-1634. doi: 10.1038/s41431-018-0206-3. Epub 2018 Jun 20.
Eichinger K, Burns J, Cornett K, Bacon C, Shepherd ML, Mountain J, Sowden J, Shy R, Shy ME, Herrmann DN. The Charcot-Marie-Tooth Functional Outcome Measure (CMT-FOM). Neurology. 2018 Oct 9;91(15):e1381-e1384. doi: 10.1212/WNL.0000000000006323. Epub 2018 Sep 19.
Davies JL, Engelstad JK Sr, E Gove L, Linbo LK, Carter RE, Lynch C, Staff NP, Klein CJ, Dyck PJB, Herrmann DN, Dyck PJ. Somatotopic heat pain thresholds and intraepidermal nerve fibers in health. Muscle Nerve. 2018 Oct;58(4):509-516. doi: 10.1002/mus.26128. Epub 2018 Apr 20.
Morrow JM, Evans MRB, Grider T, Sinclair CDJ, Thedens D, Shah S, Yousry TA, Hanna MG, Nopoulos P, Thornton JS, Shy ME, Reilly MM. Validation of MRC Centre MRI calf muscle fat fraction protocol as an outcome measure in CMT1A. Neurology. 2018 Sep 18;91(12):e1125-e1129. doi: 10.1212/WNL.0000000000006214. Epub 2018 Aug 17.
Silwal A, Pitt M, Phadke R, Mankad K, Davison JE, Rossor A, DeVile C, Reilly MM, Manzur AY, Muntoni F, Munot P. Clinical spectrum, treatment and outcome of children with suspected diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy. Neuromuscul Disord. 2018 Sep;28(9):757-765. doi: 10.1016/j.nmd.2018.06.001. Epub 2018 Jun 12.
Johnson NE, Heatwole C, Creigh P, McDermott MP, Dilek N, Hung M, Bounsanga J, Tang W, Shy ME, Herrmann DN. The Charcot-Marie-Tooth Health Index: Evaluation of a Patient-Reported Outcome. Ann Neurol. 2018 Aug;84(2):225-233. doi: 10.1002/ana.25282. Epub 2018 Aug 29.
Kanhangad M, Cornett K, Brewer MH, Nicholson GA, Ryan MM, Smith RL, Subramanian GM, Young HK, Zuchner S, Kennerson ML, Burns J, Menezes MP. Unique clinical and neurophysiologic profile of a cohort of children with CMTX3. Neurology. 2018 May 8;90(19):e1706-e1710. doi: 10.1212/WNL.0000000000005479. Epub 2018 Apr 6.
Jerath NU, Mankodi A, Crawford TO, Grunseich C, Baloui H, Nnamdi-Emeratom C, Schindler AB, Heiman-Patterson T, Chrast R, Shy ME. Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges. Muscle Nerve. 2018 May;57(5):749-755. doi: 10.1002/mus.25981. Epub 2017 Oct 24.
Saghira C, Bis DM, Stanek D, Strickland A, Herrmann DN, Reilly MM, Scherer SS, Shy ME; Inherited Neuropathy Consortium, Zuchner S. Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser. Hum Mutat. 2018 May;39(5):635-642. doi: 10.1002/humu.23412. Epub 2018 Mar 14.
Hu B, McCollum M, Ravi V, Arpag S, Moiseev D, Castoro R, Mobley B, Burnette B, Siskind C, Day J, Yawn R, Feely S, Li Y, Yan Q, Shy M, Li J. Myelin abnormality in Charcot-Marie-Tooth type 4J recapitulates features of acquired demyelination. Ann Neurol. 2018 Apr;83(4):756-770. doi: 10.1002/ana.25198. Epub 2018 Mar 30.
Bai Y, Wu X, Brennan KM, Wang DS, D'Antonio M, Moran J, Svaren J, Shy ME. Myelin protein zero mutations and the unfolded protein response in Charcot Marie Tooth disease type 1B. Ann Clin Transl Neurol. 2018 Mar 10;5(4):445-455. doi: 10.1002/acn3.543. eCollection 2018 Apr.
Lassuthova P, Rebelo AP, Ravenscroft G, Lamont PJ, Davis MR, Manganelli F, Feely SM, Bacon C, Brožková DŠ, Haberlova J, Mazanec R, Tao F, Saghira C, Abreu L, Courel S, Powell E, Buglo E, Bis DM, Baxter MF, Ong RW, Marns L, Lee YC, Bai Y, Isom DG, Barro-Soria R, Chung KW, Scherer SS, Larsson HP, Laing NG, Choi BO, Seeman P, Shy ME, Santoro L, Zuchner S. Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2. Am J Hum Genet. 2018 Mar 1;102(3):505-514. doi: 10.1016/j.ajhg.2018.01.023. PMID: 29499166; PMCID: PMC5985288.
Rebelo AP, Saade D, Pereira CV, Farooq A, Huff TC, Abreu L, Moraes CT, Mnatsakanova D, Mathews K, Yang H, Schon EA, Zuchner S, Shy ME. SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency. Brain. 2018 Mar 1;141(3):662-672. doi: 10.1093/brain/awx369.
Dankwa L, Richardson J, Motley WW, Züchner S, Scherer SS. A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family. J Peripher Nerv Syst. 2018 Mar;23(1):36-39. doi: 10.1111/jns.12248. Epub 2018 Feb 6.
Panosyan FB, Kirk CA, Marking D, Reilly MM, Scherer SS, Shy ME, Herrmann DN. Carpal tunnel syndrome in inherited neuropathies: A retrospective survey. Muscle Nerve. 2018 Mar;57(3):388-394. doi: 10.1002/mus.25742. Epub 2017 Jul 21.
Shy M, Rebelo AP, Feely SM, Abreu LA, Tao F, Swenson A, Bacon C, Zuchner S. Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease. J Neurol Neurosurg Psychiatry. 2018 Mar;89(3):313-315. doi: 10.1136/jnnp-2017-315929. Epub 2017 Jul 28.
Abbott JA, Meyer-Schuman R, Lupo V, Feely S, Mademan I, Oprescu SN, Griffin LB, Alberti MA, Casasnovas C, Aharoni S, Basel-Vanagaite L, Züchner S, De Jonghe P, Baets J, Shy ME, Espinós C, Demeler B, Antonellis A, Francklyn C. Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy. Hum Mutat. 2018 Mar;39(3):415-432. doi: 10.1002/humu.23380. Epub 2017 Dec 26.
Pareyson D, Shy ME. Neurofilament light, biomarkers, and Charcot-Marie-Tooth disease. Neurology. 2018 Feb 6;90(6):257-259. doi: 10.1212/WNL.0000000000004936. Epub 2018 Jan 10.
Sandelius Å, Zetterberg H, Blennow K, Adiutori R, Malaspina A, Laura M, Reilly MM, Rossor AM. Plasma neurofilament light chain concentration in the inherited peripheral neuropathies. Neurology. 2018 Feb 6;90(6):e518-e524. doi: 10.1212/WNL.0000000000004932. Epub 2018 Jan 10.
Laura M, Singh D, Ramdharry G, Morrow J, Skorupinska M, Pareyson D, Burns J, Lewis RA, Scherer SS, Herrmann DN, Cullen N, Bradish C, Gaiani L, Martinelli N, Gibbons P, Pfeffer G, Phisitkul P, Wapner K, Sanders J, Flemister S, Shy ME, Reilly MM; Inherited Neuropathies Consortium. Prevalence and orthopedic management of foot and ankle deformities in Charcot-Marie-Tooth disease. Muscle Nerve. 2018 Feb;57(2):255-259. doi: 10.1002/mus.25724. Epub 2017 Jul 7.
Orengo JP, Khemani P, Day JW, Li J, Siskind CE. Charcot Marie Tooth disease type 4J with complex central nervous system features. Ann Clin Transl Neurol. 2018 Jan 22;5(2):222-225. doi: 10.1002/acn3.525. eCollection 2018 Feb.
Shy ME. Antisense oligonucleotides offer hope to patients with Charcot-Marie-Tooth disease type 1A. J Clin Invest. 2018 Jan 2;128(1):110-112. doi: 10.1172/JCI98617. Epub 2017 Dec 4.
Burnor E, Yang L, Zhou H, Patterson KR, Quinn C, Reilly MM, Rossor AM, Scherer SS, Lancaster E. Neurofascin antibodies in autoimmune, genetic, and idiopathic neuropathies. Neurology. 2018 Jan 2;90(1):e31-e38. doi: 10.1212/WNL.0000000000004773. Epub 2017 Nov 29.
Schöls L, Rattay TW, Martus P, Meisner C, Baets J, Fischer I, Jägle C, Fraidakis MJ, Martinuzzi A, Saute JA, Scarlato M, Antenora A, Stendel C, Höflinger P, Lourenco CM, Abreu L, Smets K, Paucar M, Deconinck T, Bis DM, Wiethoff S, Bauer P, Arnoldi A, Marques W, Jardim LB, Hauser S, Criscuolo C, Filla A, Züchner S, Bassi MT, Klopstock T, De Jonghe P, Björkhem I, Schüle R. Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial. Brain. 2017 Dec 1;140(12):3112-3127. doi: 10.1093/brain/awx273. PMID: 29126212; PMCID: PMC5841036.
Tomaselli PJ, Rossor AM, Horga A, Laura M, Blake JC, Houlden H, Reilly MM. A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder. J Peripher Nerv Syst. 2017 Dec;22(4):460-463. doi: 10.1111/jns.12235. Epub 2017 Sep 11.
Jerath NU, Shy ME. Charcot-Marie-Tooth disease type 1C: Clinical and electrophysiological findings for the c.334G>a (p.Gly112Ser) Litaf/Simple mutation. Muscle Nerve. 2017 Dec;56(6):1092-1095. doi: 10.1002/mus.25600. Epub 2017 Apr 29.
Fledrich R, Mannil M, Leha A, Ehbrecht C, Solari A, Pelayo-Negro AL, Berciano J, Schlotter-Weigel B, Schnizer TJ, Prukop T, Garcia-Angarita N, Czesnik D, Haberlová J, Mazanec R, Paulus W, Beissbarth T, Walter MC, Triaal C, Hogrel JY, Dubourg O, Schenone A, Baets J, De Jonghe P, Shy ME, Horvath R, Pareyson D, Seeman P, Young P, Sereda MW. Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A. J Neurol Neurosurg Psychiatry. 2017 Nov;88(11):941-952. doi: 10.1136/jnnp-2017-315721. Epub 2017 Aug 31.
Jerath NU, Shy ME. Charcot-Marie-Tooth Disease Type 1A: Influence of Body Mass Index on Nerve Conduction Studies and on the Charcot-Marie-Tooth Examination Score. J Clin Neurophysiol. 2017 Nov;34(6):508-511. doi: 10.1097/WNP.0000000000000415.
Ozes B, Karagoz N, Schüle R, Rebelo A, Sobrido MJ, Harmuth F, Synofzik M, Pascual SIP, Colak M, Ciftci-Kavaklioglu B, Kara B, Ordóñez-Ugalde A, Quintáns B, Gonzalez MA, Soysal A, Zuchner S, Battaloglu E. PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia. Clin Genet. 2017 Nov;92(5):534-539. doi: 10.1111/cge.13008. Epub 2017 Apr 19.
Kalmar B, Innes A, Wanisch K, Kolaszynska AK, Pandraud A, Kelly G, Abramov AY, Reilly MM, Schiavo G, Greensmith L. Mitochondrial deficits and abnormal mitochondrial retrograde axonal transport play a role in the pathogenesis of mutant Hsp27-induced Charcot Marie Tooth Disease. Hum Mol Genet. 2017 Sep 1;26(17):3313-3326. doi: 10.1093/hmg/ddx216.
Zis P, Reilly MM, Rao DG, Tomaselli P, Rossor AM, Hadjivassiliou M. A novel mutation in the FGD4 gene causing Charcot-Marie-Tooth disease. J Peripher Nerv Syst. 2017 Sep;22(3):224-225. doi: 10.1111/jns.12222.
Cornett KMD, Menezes MP, Shy RR, Moroni I, Pagliano E, Pareyson D, Estilow T, Yum SW, Bhandari T, Muntoni F, Laura M, Reilly MM, Finkel RS, Eichinger KJ, Herrmann DN, Bray P, Halaki M, Shy ME, Burns J; CMTPedS Study Group. Natural history of Charcot-Marie-Tooth disease during childhood. Ann Neurol. 2017 Sep;82(3):353-359. doi: 10.1002/ana.25009.
Panosyan FB, Laura M, Rossor AM, Pisciotta C, Piscosquito G, Burns J, Li J, Yum SW, Lewis RA, Day J, Horvath R, Herrmann DN, Shy ME, Pareyson D, Reilly MM, Scherer SS; Inherited Neuropathies Consortium—Rare Diseases Clinical Research Network (INC-RDCRN). Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1). Neurology. 2017 Aug 29;89(9):927-935. doi: 10.1212/WNL.0000000000004296. Epub 2017 Aug 2.
Ramdharry GM, Pollard AJ, Grant R, Dewar EL, Laurá M, Moore SA, Hallsworth K, Ploetz T, Trenell MI, Reilly MM. A study of physical activity comparing people with Charcot-Marie-Tooth disease to normal control subjects. Disabil Rehabil. 2017 Aug;39(17):1753-1758. doi: 10.1080/09638288.2016.1211180. Epub 2016 Aug 16.
Jacquier A, Delorme C, Belotti E, Juntas-Morales R, Solé G, Dubourg O, Giroux M, Maurage CA, Castellani V, Rebelo A, Abrams A, Züchner S, Stojkovic T, Schaeffer L, Latour P. Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death. Acta Neuropathol Commun. 2017 Jul 14;5(1):55. doi: 10.1186/s40478-017-0457-1. PMID: 28709447; PMCID: PMC5513089.
Hainline C, Rizzo D, Shy ME, Inherited Neuropathies Consortium, Rare Diseases Clinical Research Network Data Management and Coordinating Center. Enhancements to the RDCRN Contact Registry for the Inherited Neuropathies Consortium. Poster presented at Peripheral Nerve Society Annual Meeting. Jul. 8-12, 2017; Sitges, Spain.
Horga A, Laurà M, Jaunmuktane Z, Jerath NU, Gonzalez MA, Polke JM, Poh R, Blake JC, Liu YT, Wiethoff S, Bettencourt C, Lunn MP, Manji H, Hanna MG, Houlden H, Brandner S, Züchner S, Shy M, Reilly MM. Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease. J Neurol Neurosurg Psychiatry. 2017 Jul;88(7):575-585. doi: 10.1136/jnnp-2016-315077. Epub 2017 May 13.
Manganelli F, Parisi S, Nolano M, Tao F, Paladino S, Pisciotta C, Tozza S, Nesti C, Rebelo AP, Provitera V, Santorelli FM, Shy ME, Russo T, Zuchner S, Santoro L. Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI. Neurology. 2017 May 30;88(22):2132-2140. doi: 10.1212/WNL.0000000000003992. Epub 2017 May 3.
Tsai PC, Soong BW, Mademan I, Huang YH, Liu CR, Hsiao CT, Wu HT, Liu TT, Liu YT, Tseng YT, Lin KP, Yang UC, Chung KW, Choi BO, Nicholson GA, Kennerson ML, Chan CC, De Jonghe P, Cheng TH, Liao YC, Züchner S, Baets J, Lee YC. A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy. Brain. 2017 May 1;140(5):1252-1266. doi: 10.1093/brain/awx058.
Rocha N, Bulger DA, Frontini A, Titheradge H, Gribsholt SB, Knox R, Page M, Harris J, Payne F, Adams C, Sleigh A, Crawford J, Gjesing AP, Bork-Jensen J, Pedersen O, Barroso I, Hansen T, Cox H, Reilly M, Rossor A, Brown RJ, Taylor SI, McHale D, Armstrong M, Oral EA, Saudek V, O'Rahilly S, Maher ER, Richelsen B, Savage DB, Semple RK. Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression. Elife. 2017 Apr 19;6:e23813. doi: 10.7554/eLife.23813.
Tomaselli PJ, Rossor AM, Horga A, Jaunmuktane Z, Carr A, Saveri P, Piscosquito G, Pareyson D, Laura M, Blake JC, Poh R, Polke J, Houlden H, Reilly MM. Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT. Neurology. 2017 Apr 11;88(15):1445-1453. doi: 10.1212/WNL.0000000000003819. Epub 2017 Mar 10.
Bis DM, Schüle R, Reichbauer J, Synofzik M, Rattay TW, Soehn A, de Jonghe P, Schöls L, Züchner S. Uniparental disomy determined by whole-exome sequencing in a spectrum of rare motoneuron diseases and ataxias. Mol Genet Genomic Med. 2017 Apr 5;5(3):280-286. doi: 10.1002/mgg3.285. eCollection 2017 May.
Saporta MA, Shy ME. A human cellular model to study peripheral myelination and demyelinating neuropathies. Brain. 2017 Apr 1;140(4):856-859. doi: 10.1093/brain/awx048.
Hengel H, Magee A, Mahanjah M, Vallat JM, Ouvrier R, Abu-Rashid M, Mahamid J, Schüle R, Schulze M, Krägeloh-Mann I, Bauer P, Züchner S, Sharkia R, Schöls L. CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis. Neurol Genet. 2017 Mar 22;3(2):e144. doi: 10.1212/NXG.0000000000000144. eCollection 2017 Apr.
Wang DS, Wu X, Bai Y, Zaidman C, Grider T, Kamholz J, Lupski JR, Connolly AM, Shy ME. PMP22 exon 4 deletion causes ER retention of PMP22 and a gain-of-function allele in CMT1E. Ann Clin Transl Neurol. 2017 Mar 12;4(4):236-245. doi: 10.1002/acn3.395. eCollection 2017 Apr.
Liao C, Ashley N, Diot A, Morten K, Phadwal K, Williams A, Fearnley I, Rosser L, Lowndes J, Fratter C, Ferguson DJ, Vay L, Quaghebeur G, Moroni I, Bianchi S, Lamperti C, Downes SM, Sitarz KS, Flannery PJ, Carver J, Dombi E, East D, Laura M, Reilly MM, Mortiboys H, Prevo R, Campanella M, Daniels MJ, Zeviani M, Yu-Wai-Man P, Simon AK, Votruba M, Poulton J. Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations. Neurology. 2017 Jan 10;88(2):131-142. doi: 10.1212/WNL.0000000000003491. Epub 2016 Dec 14.
Rossor AM, Morrow JM, Polke JM, Murphy SM, Houlden H; INC-RDCRC, Laura M, Manji H, Blake J, Reilly MM. Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene. Neuromuscul Disord. 2017 Jan;27(1):50-56. doi: 10.1016/j.nmd.2016.10.001. Epub 2016 Oct 8.
Vallat JM, Nizon M, Magee A, Isidor B, Magy L, Péréon Y, Richard L, Ouvrier R, Cogné B, Devaux J, Zuchner S, Mathis S. Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region. J Neuropathol Exp Neurol. 2016 Dec 1;75(12):1155-1159. doi: 10.1093/jnen/nlw093.
Hu B, Arpag S, Zuchner S, Li J. A novel missense mutation of CMT2P alters transcription machinery. Ann Neurol. 2016 Dec;80(6):834-845. doi: 10.1002/ana.24776. Epub 2016 Sep 27.
Shy M. LRSAM1 lessons. Ann Neurol. 2016 Dec;80(6):821-822. doi: 10.1002/ana.24817.
Manole A, Chelban V, Haridy NA, Hamed SA, Berardo A, Reilly MM, Houlden H. Severe axonal neuropathy is a late manifestation of SPG11. J Neurol. 2016 Nov;263(11):2278-2286. doi: 10.1007/s00415-016-8254-5. Epub 2016 Aug 20.
Horga A, Tomaselli PJ, Gonzalez MA, Laura M, Muntoni F, Manzur AY, Hanna MG, Blake JC, Houlden H, Zuchner S, Reilly MM. SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome. Neurology. 2016 Oct 11;87(15):1607-1612. doi: 10.1212/WNL.0000000000003212. Epub 2016 Sep 14.
Jerath NU, Gutmann L, Reddy CG, Shy ME. Charcot-marie-tooth disease type 1X in women: Electrodiagnostic findings. Muscle Nerve. 2016 Oct;54(4):728-32. doi: 10.1002/mus.25077. Epub 2016 Jul 4.
Manganelli F, Pisciotta C, Reilly MM, Tozza S, Schenone A, Fabrizi GM, Cavallaro T, Vita G, Padua L, Gemignani F, Laurà M, Hughes RA, Solari A, Pareyson D, Santoro L; CMT-TRIAAL and CMT-TRAUK Group. Nerve conduction velocity in CMT1A: what else can we tell?. Eur J Neurol. 2016 Oct;23(10):1566-71. doi: 10.1111/ene.13079. Epub 2016 Jul 14.
Rossor AM, Tomaselli PJ, Reilly MM. Recent advances in the genetic neuropathies. Curr Opin Neurol. 2016 Oct;29(5):537-48. doi: 10.1097/WCO.0000000000000373.
Perez-Siles G, Grant A, Ellis M, Ly C, Kidambi A, Khalil M, Llanos RM, Fontaine SL, Strickland AV, Züchner S, Bermeo S, Neist E, Brennan-Speranza TC, Takata RI, Speck-Martins CE, Mercer JF, Nicholson GA, Kennerson ML. Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX). Metallomics. 2016 Sep 1;8(9):981-92. doi: 10.1039/c6mt00082g. Epub 2016 Jun 13.
Auer-Grumbach M, Toegel S, Schabhüttl M, Weinmann D, Chiari C, Bennett DLH, Beetz C, Klein D, Andersen PM, Böhme I, Fink-Puches R, Gonzalez M, Harms MB, Motley W, Reilly MM, Renner W, Rudnik-Schöneborn S, Schlotter-Weigel B, Themistocleous AC, Weishaupt JH, Ludolph AC, Wieland T, Tao F, Abreu L, Windhager R, Zitzelsberger M, Strom TM, Walther T, Scherer SS, Züchner S, Martini R, Senderek J. Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies. Am J Hum Genet. 2016 Sep 1;99(3):607-623. doi: 10.1016/j.ajhg.2016.07.008.
Piscosquito G, Saveri P, Magri S, Ciano C, Gandioli C, Morbin M, Bella DD, Moroni I, Taroni F, Pareyson D. Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4). J Peripher Nerv Syst. 2016 Sep;21(3):142-9. doi: 10.1111/jns.12175.
Panosyan FB, Mountain JM, Reilly MM, Shy ME, Herrmann DN. Rydel-Seiffer fork revisited: Beyond a simple case of black and white. Neurology. 2016 Aug 16;87(7):738-40. doi: 10.1212/WNL.0000000000002991. Epub 2016 Jul 13.
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Murphy SM, Ovens R, Polke J, Siskind CE, Laura M, Bull K, Ramdharry G, Houlden H, Murphy RP, Shy ME, Reilly MM. X inactivation in females with X-linked Charcot-Marie-Tooth disease. Neuromuscul Disord. 2012 Jul;22(7):617-21. doi: 10.1016/j.nmd.2012.02.009. Epub 2012 Apr 6.
Scanlon C, Park K, Mapletoft D, Begg L, Burns J.. Interrater and intrarater reliability of photoplethysmography for measuring toe blood pressure and toe-brachial index in people with diabetes mellitus. J Foot Ankle Res. 2012 Jun 7;5:13. doi: 10.1186/1757-1146-5-13.
Rossor AM, Davidson GL, Blake J, Polke JM, Murphy SM, Houlden H, Innes A, Kalmar B, Greensmith L, Reilly MM. A novel p.Gln175X [corrected] premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2. J Peripher Nerv Syst. 2012 Jun;17(2):201-5. doi: 10.1111/j.1529-8027.2012.00400.x.
Jaffer F, Murphy SM, Scoto M, Healy E, Rossor AM, Brandner S, Phadke R, Selcen D, Jungbluth H, Muntoni F, Reilly MM. BAG3 mutations: another cause of giant axonal neuropathy. J Peripher Nerv Syst. 2012 Jun;17(2):210-6. doi: 10.1111/j.1529-8027.2012.00409.x.
Rossor AM, Murphy S, Reilly MM. Knee bobbing in Charcot-Marie-Tooth disease. Pract Neurol. 2012 Jun;12(3):182-3. doi: 10.1136/practneurol-2011-000167.
Miller LJ, Patzko A, Lewis RA, Shy ME. Phenotypic presentation of the Ser63Del MPZ mutation. J Peripher Nerv Syst. 2012 Jun;17(2):197-200. doi: 10.1111/j.1529-8027.2012.00398.x.
Voermans NC, Kleefstra T, Gabreels-Festen AA, et al. Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion. J Peripher Nerv Syst. Jun 2012;17(2):223-225. PMID: 22734911.
Harms MB, Ori-McKenney KM, Scoto M, Tuck EP, Bell S, Ma D, Masi S, Allred P, Al-Lozi M, Reilly MM, Miller LJ, Jani-Acsadi A, Pestronk A, Shy ME, Muntoni F, Vallee RB, Baloh RH. Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. Neurology. 2012 May 29;78(22):1714-20. doi: 10.1212/WNL.0b013e3182556c05. Epub 2012 Mar 28.
Burns J, Ouvrier R, Estilow T, Shy R, Laura M, Pallant JF, Lek M, Muntoni F, Reilly MM, Pareyson D, Acsadi G, Shy ME, Finkel RS. Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability. Ann Neurol. 2012 May;71(5):642-52. doi: 10.1002/ana.23572.
Lloyd TE, Machamer J, O'Hara K, Kim JH, Collins SE, Wong MY, Sahin B, Imlach W, Yang Y, Levitan ES, McCabe BD, Kolodkin AL. The p150(Glued) CAP-Gly domain regulates initiation of retrograde transport at synaptic termini. Neuron. Apr 26 2012;74(2):344-360. PMID: 22542187, PMCID: PMC3353876.
Norton N, Robertson PD, Rieder MJ, Züchner S, Rampersaud E, Martin E, Li D, Nickerson DA, Hershberger RE; National Heart, Lung and Blood Institute GO Exome Sequencing Project. Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era. Circ Cardiovasc Genet. 2012 Apr 1;5(2):167-74. doi: 10.1161/CIRCGENETICS.111.961805. Epub 2012 Feb 15.
Blyton F, Chuter V, Burns J. Unknotting night-time muscle cramp: a survey of patient experience, help-seeking behaviour and perceived treatment effectiveness. J Foot Ankle Res. 2012 Mar 15;5:7. doi: 10.1186/1757-1146-5-7.
Morrow JM, D'Sa S, Page RA, Hilali MA, Lunn MP, Reilly MM. Rituximab responsive multiple radiculopathies and cranial nerve palsies in association with chronic lymphocytic leukaemia. J Neurol. Mar 2012;259(3):571-573. PMID: 21887515.
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Murphy SM, Khan U, Alifrangis C, Hazell S, Hrouda D, Blake J, Ball J, Gabriel C, Markarian P, Rees J, Karim A, Seckl MJ, Lunn MP, Reilly MM. Anti Ma2-associated myeloradiculopathy: expanding the phenotype of anti-Ma2 associated paraneoplastic syndromes. J Neurol Neurosurg Psychiatry. 2012 Feb;83(2):232-3. doi: 10.1136/jnnp.2010.223271. Epub 2011 Jan 4.
Patzko A, Shy ME. Charcot-Marie-Tooth disease and related genetic neuropathies. Continuum (Minneapolis, Minn). Feb 2012;18(1):39-59. PMID: 22810069.
McLaughlin HM, Sakaguchi R, Giblin W; NISC Comparative Sequencing Program, Wilson TE, Biesecker L, Lupski JR, Talbot K, Vance JM, Züchner S, Lee YC, Kennerson M, Hou YM, Nicholson G, Antonellis A. A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N). Hum Mutat. 2012 Jan;33(1):244-53. doi: 10.1002/humu.21635. Epub 2011 Nov 9.
Murphy SM, Davidson GL, Brandner S, Houlden H, Reilly MM. Mutation in FAM134B causing severe hereditary sensory neuropathy. J Neurol Neurosurg Psychiatry. 2012 Jan;83(1):119-20. doi: 10.1136/jnnp.2010.228965. Epub 2010 Nov 28.
Sinclair CD, Morrow JM, Miranda MA, Davagnanam I, Cowley PC, Mehta H, Hanna MG, Koltzenburg M, Yousry TA, Reilly MM, Thornton JS. Skeletal muscle MRI magnetisation transfer ratio reflects clinical severity in peripheral neuropathies. J Neurol Neurosurg Psychiatry. Jan 2012;83(1):29-32. PMID: 21613652.
Rossor AM, Kalmar B, Greensmith L, Reilly MM. The distal hereditary motor neuropathies. J Neurol Neurosurg Psychiatry. 2012 Jan;83(1):6-14. doi: 10.1136/jnnp-2011-300952. Epub 2011 Oct 25.
Scherer SS, Feltri ML, Wrabetz L. Genetic Mutations Affecting Myelin Formation. In: Kettenmann H, Ransom BR, eds. Neuroglia. New York, NY: Oxford University Press. 2012:798-808.
Murphy SM, Reilly M. Hereditary amyloid neuropathy. Autonomic Failure: a textbook of clinical disorders of the autonomic nervous system. New York: Oxford University Press; 2012.
Shy M. Peripheral Neuropathies. Goldman's Cecil Medicine: Expert Consult Premium Edition. Philadelphia, PA: Elsevier. 2012:2396-2409.
Holzbaur EL, Scherer SS. Microtubules, axonal transport, and neuropathy. N Engl J Med. 2011 Dec 15;365(24):2330-2. doi: 10.1056/NEJMcibr1112481.
Hutton EJ, Carty L, Laurá M, Houlden H, Lunn MP, Brandner S, Mirsky R, Jessen K, Reilly MM. c-Jun expression in human neuropathies: a pilot study. J Peripher Nerv Syst. 2011 Dec;16(4):295-303. doi: 10.1111/j.1529-8027.2011.00360.x.
Scherer SS. The debut of a rational treatment for an inherited neuropathy. J Clin Invest. Dec 2011;121(12):4624-4627. PMID: 22045569, PMCID: PMC3226011.
Siskind CE, Shy ME. Genetics of neuropathies. Semin Neurol. Nov 2011;31(5):494-505. PMID: 22266887.
Shy ME, Patzkó A. Axonal Charcot-Marie-Tooth disease. Curr Opin Neurol. 2011 Oct;24(5):475-83. doi: 10.1097/WCO.0b013e32834aa331.
Miller LJ, Saporta AS, Sottile SL, Siskind CE, Feely SM, Shy ME. Strategy for genetic testing in Charcot-Marie-disease. Acta Myol. 2011 Oct;30(2):109-16.
Saporta MA, Grskovic M, Dimos JT. Induced pluripotent stem cells in the study of neurological diseases. Stem cell research & therapy. 2011 Sep 21;2(5):37. doi: 10.1186/scrt78. PMID: 21936964; PMCID: PMC3308034.
Almodovar JL, Ferguson M, McDermott MP, Lewis RA, Shy ME, Herrmann DN. In vivo confocal microscopy of Meissner corpuscles as a novel sensory measure in CMT1A. J Peripher Nerv Syst. 2011 Sep;16(3):169-74. doi: 10.1111/j.1529-8027.2011.00342.x.
Murphy SM, Herrmann DN, McDermott MP, Scherer SS, Shy ME, Reilly MM, Pareyson D. Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease. J Peripher Nerv Syst. 2011 Sep;16(3):191-8. doi: 10.1111/j.1529-8027.2011.00350.x.
Polke JM, Laura M, Pareyson D, et al. Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations. Neurology. Jul 12 2011;77(2):168-173. PMID: 21715711, PMCID: PMC3140074.
McCorquodale DS, 3rd, Montenegro G, Peguero A, et al. Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2. J Neurol. Jul 2011;258(7):1234-1239. PMID: 21258814, PMCID: PMC3125445.
Saporta MA, Katona I, Zhang X, Roper HP, McClelland L, Macdonald F, Brueton L, Blake J, Suter U, Reilly MM, Shy ME, Li J. Neuropathy in a human without the PMP22 gene. Arch Neurol. Jun 2011;68(6):814-821. PMID: 21670407, PMCID: PMC3711535.
Siskind CE, Murphy SM, Ovens R, Polke J, Reilly MM, Shy ME. Phenotype expression in women with CMT1X. J Peripher Nerv Syst. 2011 Jun;16(2):102-7. doi: 10.1111/j.1529-8027.2011.00332.x.
Scherer SS. CMT2A: the name doesn't tell the whole story. Neurology. May 17 2011;76(20):1686-1687. PMID: 21508332.
Feely SM, Laura M, Siskind CE, Sottile S, Davis M, Gibbons VS, Reilly MM, Shy ME. MFN2 mutations cause severe phenotypes in most patients with CMT2A. Neurology. 2011 May 17;76(20):1690-6. doi: 10.1212/WNL.0b013e31821a441e. Epub 2011 Apr 20.
Pareyson D, Reilly MM, Schenone A, et al. Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. Lancet Neurol. Apr 2011;10(4):320-328. PMID: 21393063, PMCID: PMC3154498.
Katona I, Zhang X, Bai Y, et al. Distinct pathogenic processes between Fig4-deficient motor and sensory neurons. Eur J Neurosci. Apr 2011;33(8):1401-1410. PMID: 21410794.
Shy ME. Inherited peripheral neuropathies. Continuum (Minneapolis, Minn). Apr 2011;17(2 Neurogenetics):294-315. PMID: 22810821.
Smith LJ, Murphy SM, Holmes P, Reilly MM, Reiniger L, Thom M, Lunn MP. A painful right leg. BMJ. 2011 Mar 16;342:d1009. doi: 10.1136/bmj.d1009. PMID: 21411806.
Murphy SM, Polke J, Manji H, Blake J, Reiniger L, Sweeney M, Houlden H, Brandner S, Reilly MM. A novel mutation in the nerve-specific 5'UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease. J Peripher Nerv Syst. 2011 Mar;16(1):65-70. doi: 10.1111/j.1529-8027.2011.00321.x.
Reilly MM, Murphy SM, Laurá M. Charcot-Marie-Tooth disease. J Peripher Nerv Syst. 2011 Mar;16(1):1-14. doi: 10.1111/j.1529-8027.2011.00324.x.
Murphy SM, Laurá M, Blake J, Polke J, Bremner F, Reilly MM. Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation. Neuromuscul Disord. 2011 Mar;21(3):223-6. doi: 10.1016/j.nmd.2010.12.010. Epub 2011 Jan 21.
Montenegro G, Powell E, Huang J, Speziani F, Edwards YJ, Beecham G, Hulme W, Siskind C, Vance J, Shy M, Züchner S. Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family. Ann Neurol. 2011 Mar;69(3):464-70. doi: 10.1002/ana.22235. Epub 2011 Jan 20.
Züchner S, Dallman J, Wen R, Beecham G, Naj A, Farooq A, Kohli MA, Whitehead PL, Hulme W, Konidari I, Edwards YJ, Cai G, Peter I, Seo D, Buxbaum JD, Haines JL, Blanton S, Young J, Alfonso E, Vance JM, Lam BL, Peričak-Vance MA. Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa. Am J Hum Genet. 2011 Feb 11;88(2):201-6. doi: 10.1016/j.ajhg.2011.01.001. Epub 2011 Feb 3.
Patzkó A, Shy ME. Update on Charcot-Marie-Tooth disease. Curr Neurol Neurosci Rep. 2011 Feb;11(1):78-88. doi: 10.1007/s11910-010-0158-7.
Russo M, Laurá M, Polke JM, Davis MB, Blake J, Brandner S, Hughes RA, Houlden H, Bennett DL, Lunn MP, Reilly MM. Variable phenotypes are associated with PMP22 missense mutations. Neuromuscul Disord. Feb 2011;21(2):106-114. PMID: 21194947.
Saporta AS, Sottile SL, Miller LJ, Feely SM, Siskind CE, Shy ME. Charcot-Marie-Tooth disease subtypes and genetic testing strategies. Ann Neurol. 2011 Jan;69(1):22-33. doi: 10.1002/ana.22166.
Amato AA, Reilly MM. The death panel for Charcot-Marie-Tooth panels. Ann Neurol. Jan 2011;69(1):1-4. PMID: 21280068.
Reilly MM, Shy ME, Muntoni F, Pareyson D. 168th ENMC International Workshop: outcome measures and clinical trials in Charcot-Marie-Tooth disease (CMT). Neuromuscul Disord. Dec 2010;20(12):839-846. PMID: 20850975.
Martin ER, Kinnamon DD, Schmidt MA, Powell EH, Zuchner S, Morris RW. SeqEM: an adaptive genotype-calling approach for next-generation sequencing studies. Bioinformatics. 2010 Nov 15;26(22):2803-10. doi: 10.1093/bioinformatics/btq526. Epub 2010 Sep 21.
Burns J, Ramchandren S, Ryan MM, Shy M, Ouvrier RA. Determinants of reduced health-related quality of life in pediatric inherited neuropathies. Neurology. 2010 Aug 24;75(8):726-31. doi: 10.1212/WNL.0b013e3181eee496.
Huang J, Wu X, Montenegro G, et al. Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease. J Neurol. May 2010;257(5):735-741. PMID: 19949810, PMCID: PMC2865568.
Burns J, Ryan MM, Ouvrier RA. Quality of life in children with Charcot-Marie-Tooth disease. J Child Neurol. Mar 2010;25(3):343-347. PMID: 19713553.
Scherer SS. Genes and Inherited Neuropathies. Companion to Peripheral Neuropathy. Philadelphia, PA: Saunders Elsevier. 2010:335-342.
Hedges DJ, Burges D, Powell E, Almonte C, Huang J, Young S, Boese B, Schmidt M, Pericak-Vance MA, Martin E, Zhang X, Harkins TT, Züchner S. Exome sequencing of a multigenerational human pedigree. PLoS One. 2009 Dec 14;4(12):e8232. doi: 10.1371/journal.pone.0008232.
Reilly MM, Shy ME. Diagnosis and new treatments in genetic neuropathies. J Neurol Neurosurg Psychiatry. 2009 Dec;80(12):1304-14. doi: 10.1136/jnnp.2008.158295. PMID: 19917815.
Ramchandren S, Shy ME, Finkel RS. Quality of life in children with CMT type 1A. Lancet Neurol. Oct 2009;8(10):880-881; author reply 881. PMID: 19747650.
Ramdharry GM, Day BL, Reilly MM, Marsden JF. Hip flexor fatigue limits walking in Charcot-Marie-Tooth disease. Muscle Nerve. 2009 Jul;40(1):103-11. doi: 10.1002/mus.21264.
Katona I, Wu X, Feely SM, et al. PMP22 expression in dermal nerve myelin from patients with CMT1A. Brain. Jul 2009;132(Pt 7):1734-1740. PMID: 19447823, PMCID: PMC2724915.
Shy M. Ascorbic acid for treatment of CMT1A: the jury is still out. Lancet Neurol. Jun 2009;8(6):505-507. PMID: 19427270.
Siskind C, Feely SM, Bernes S, Shy ME, Garbern JY. Persistent CNS dysfunction in a boy with CMT1X. J Neurol Sci. Apr 15 2009;279(1-2):109-113. PMID: 19193385.
Houlden H, Laura M, Ginsberg L, Jungbluth H, Robb SA, Blake J, Robinson S, King RH, Reilly MM. The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy. Neuromuscul Disord. Apr 2009;19(4):264-269. PMID: 19272779.
Dimos JT, Rodolfa KT, Niakan KK, Weisenthal LM, Mitsumoto H, Chung W, Croft GF, Saphier G, Leibel R, Goland R, Wichterle H, Henderson CE, Eggan K. Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons. Science. Aug 29 2008;321(5893):1218-1221. PMID: 18669821.
Vermilion J, Augustine EF, Mink JW, McDermott MP, Vierhile A, Pereira-Freitas M, Adams HR. Impact of CLN3 Disease on Child Quality of Life and Family Function. Pediatr Neurol. 2025 Jun 16;170:17-25. doi: 10.1016/j.pediatrneurol.2025.06.008. Epub ahead of print. PMID: 40602048; PMCID: PMC12236447.
CLN3 disease, also known as Batten disease, is an inherited neurodegenerative disorder that typically starts in childhood. Because CLN3 disease is progressive and fatal, it is likely to affect the health-related quality of life (HRQOL) of both the child and the family.
In this study, researchers evaluated the HRQOL and family function in individuals with CLN3 disease and their families. The team analyzed data from 71 participants who completed assessments on the child HRQOL and family impact. In 21 of these participants, the team also analyzed Unified Batten Disease Rating Scale responses.
Results showed an association between worse child HRQOL and more severe disease symptoms, including physical impairment and functional capability. However, family impact severity was not associated with CLN3 disease symptom severities. While child HRQOL worsened over time, family impact did not significantly change over time. Authors note that these findings may provide important information for clinical care and trial design in CLN3 disease.
Svatkova A, Pasternak O, Eisengart JB, Rudser KD, Bednařík P, Mueller BA, Delaney KA, Shapiro EG, Whitley CB, Nestrašil I. Diffusion tensor imaging with free-water correction reveals distinctions between severe and attenuated subtypes in Mucopolysaccharidosis type I. J Inherit Metab Dis. 2025 Jan;48(1):e12830. doi: 10.1002/jimd.12830. PMID: 39761695; PMCID: PMC11703597.
Mucopolysaccharidosis type I (MPS I, with clinical subtypes Hurler syndrome, Hurler-Scheie syndrome, and Scheie syndrome) are inherited lysosomal disorders that cause severe damage to multiple organs, including the white matter of the brain. Whole-brain diffusion tensor imaging (DTI) analysis has not been feasible in patients with MPS diseases due to structural MPS-related brain abnormalities. However, the effects of these abnormalities on DTI measurements could be lessened with a method called free-water correction (FWC).
In this study, investigators analyzed DTI with FWC to explore distinctions between subtypes of MPS I. The team studied DTI data from 44 patients with a range of subtypes of MPS I as well as 27 healthy controls.
Results reveal distinct spatial patterns of white matter damage in severe and attenuated MPS I subtypes. Findings also highlight a relationship between attention, age at hematopoietic stem cell transplantation, and white matter microstructure. The investigators concluded that free-water fraction is a unique measure for longitudinal MPS studies to monitor disease progression and response to treatment.
Casazza K, Cologna SM, Berry-Kravis E, Jarnes J, Porter FD. Biomarker Validation in NPC1: Foundations for Clinical Trials and Regulatory Alignment. J Inherit Metab Dis. 2025 Sep;48(5):e70075. doi: 10.1002/jimd.70075. PMID: 40814945.
Niemann-Pick disease type C1 (NPC1) is a lysosomal storage disorder caused by mutations in the NPC1 gene. NPC1 affects the body’s ability to break down and use cholesterol and lipids inside of cells. Over time, these substances accumulate and cause damage in the brain and other organs. Due to symptom variability and lack of awareness, diagnosis is often delayed and therapeutic development has been limited.
In this review paper, researchers discuss biomarkers to support clinical trials for NPC1. The team details the recent development of pharmacodynamic, diagnostic, and prognostic biomarkers to support earlier diagnosis and monitor the effectiveness of treatments.
Authors note that despite the development of new biomarkers, there is still much to learn about diagnosis and therapies for NPC1. Ongoing clinical trials and translational research are needed to accelerate biomarker qualification and regulatory approval of treatments.
Ankit K Desai, Garima Shrivastava, Christina L Grant, Raymond Y Wang, Trevor D Burt, Priya S Kishnani. An updated management approach of Pompe disease patients with high-sustained anti-rhGAA IgG antibody titers: experience with bortezomib-based immunomodulation. Front Immunol. 2024 Mar 8;15:1360369. doi: 10.3389/fimmu.2024.1360369. PMID: 38524130; PMCID: PMC10959098.
Pompe disease is an inherited lysosomal disorder caused by an abnormal enzyme that cannot break down glycogen. Patients with infantile-onset Pompe disease often experience high-sustained anti-rhGAA IgG antibody titers (HSAT), which can lower the efficacy of enzyme replacement therapy and lead to health complications.
In this study, researchers explored management approaches for HSAT in patients with Pompe disease. The team compared the disease course of eight patients with infantile-onset Pompe who were treated with the drug bortezomib. Researchers tracked differences in timing, dosage, and outcomes among these patients.
Results suggest that bortezomib should be initiated at the earliest sign of HSAT with a minimum of two consecutive treatment cycles to achieve optimal outcomes. Authors recommend close monitoring of HSAT and early intervention as soon as significantly elevated levels are noted.
Brima T, Freedman EG, Prinsloo KD, Augustine EF, Adams HR, Wang KH, Mink JW, Shaw LH, Mantel EP, Foxe JJ. Assessing the integrity of auditory sensory memory processing in CLN3 disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): an auditory evoked potential study of the duration-evoked mismatch negativity (MMN). J Neurodev Disord. 2024 Jan 6;16(1):3. doi: 10.1186/s11689-023-09515-8. PMID: 38183037; PMCID: PMC10770910.
CLN3 disease, also known as juvenile neuronal ceroid lipofuscinosis or Batten disease, is a type of lysosomal disorder that affects the nervous system beginning in childhood. Throughout adolescence and early adulthood, patients often experience progressive vision loss, motor dysfunction, and cognitive decline. This combination of symptoms can make it challenging to assess neurocognitive decline, highlighting the need for quantitative measures of brain function.
In this study, researchers assessed auditory sensory memory capabilities in individuals with CLN3 disease as a potential biomarker for neurocognitive decline. The team used a type of assessment called duration-evoked mismatch negativity (MMN)—which does not require participant engagement—to study early auditory processing, discrimination, and sensory memory in 21 individuals with CLN3 disease and 41 neurotypical controls.
Results reveal a decline in auditory sensory memory for duration as CLN3 disease progresses. Authors note that duration-evoked MMN may also serve as a sensitive measure of disease severity in other neurodevelopmental disorders.
Wu TT, Finkel RS, Siskind CE, Feely SME, Burns J, Reilly MM, Muntoni F, Milev E, Estilow T, Shy ME, Ramchandren S; Childhood CMT Study Group of the Inherited Neuropathy Consortium. Validation of the parent-proxy version of the pediatric Charcot-Marie-Tooth disease quality of life instrument for children aged 0-7 years. J Peripher Nerv Syst. 2023 Sep;28(3):382-389. doi: 10.1111/jns.12557. Epub 2023 May 18.
Miller BS, Fung EB, White KK, Lund TC, Harmatz P, Orchard PJ, Whitley CB, Polgreen LE. Persistent bone and joint disease despite current treatments for mucopolysaccharidosis types I, II, and VI: Data from a 10-year prospective study. J Inherit Metab Dis. 2023 Feb 25. doi: 10.1002/jimd.12598. Epub ahead of print. PMID: 36840680.
Mucopolysaccharidosis (MPS) disorders are a group of nine rare, inherited, lysosomal storage disorders caused by genetic mutations which produce 11 dysfunctional enzymes that cannot break down glycosaminoglycans (complex sugar molecules with amino groups that are critical components of connective tissues). MPS disorders have many potential new therapies on the horizon. However, historic control data on disease progression and variability are needed to understand the long-term benefits and limitations of these treatments.
In this study, researchers conducted a 10-year prospective observational study of 55 children with multiple types of MPS. The team used several techniques, including annual measurements and mixed effects modeling, to systematically evaluate bone and joint disease over time.
Results show that despite current treatments, patients with MPS I, II, and VI still experience short stature, joint contractures, and elevation in average BMI. Authors note that data from this study could be used to expedite testing of therapies directed to bones and joints, as well as highlight the need for weight management in routine clinical care for patients with MPS.
Sahasrabudhe SA, Terluk MR, Rudser KD, Cloyd JC, Kartha RV. Biological Variation in Peripheral Inflammation and Oxidative Stress Biomarkers in Individuals with Gaucher Disease. Int J Mol Sci. 2022 Aug 16;23(16):9189. doi: 10.3390/ijms23169189. PMID: 36012454; PMCID: PMC9409136.
Silvestroni A, Sokolovskiy A, Tøndel C, Svarstad E, Obrisca B, Ismail G, Holida MD, Mauer M. A novel unbiased method reveals progressive podocyte globotriaosylceramide accumulation and loss with age in females with Fabry disease. Kidney Int.. 2022 Jul;102(1):173-182. doi: 10.1016/j.kint.2022.03.023. Epub 2022 Apr 26. PMID: 35483528; PMCID: PMC9233139.
Ahmed A, Rudser K, King KE, Eisengart JB, Orchard PJ, Shapiro E, Whitley CB. Quantifying medical manifestations in Hurler syndrome with the infant physical symptom score: associations with long-term physical and adaptive outcomes. Mol Genet Metab. 2022 May;136(1):22-27. doi: 10.1016/j.ymgme.2022.03.003. Epub 2022 Mar 10. PMID: 35304037.
Masten MC, Corre C, Paciorkowski AR, Vierhile A, Adams HR, Vermilion J, Zimmerman GA, Augustine EF, Mink JW. A diagnostic confidence scheme for CLN3 disease. J Inherit Metab Dis. J Inherit Metab Dis. 2021 Aug 28. doi: 10.1002/jimd.12429. Online ahead of print.
Kovacs KD, Orlin A, Sondhi D, Kaminsky SM, D'Amico DJ, Crystal RG, Kiss S. Automated Retinal Layer Segmentation in CLN2-Associated Disease: Commercially Available Software Characterizing a Progressive Maculopathy. Transl Vis Sci Technol. 2021 Jul 1;10(8):23. doi: 10.1167/tvst.10.8.23.
Flanagan M, Pathak I, Gan Q, Winter L, Emnet R, Akel S, Montaño AM. Umbilical mesenchymal stem cell-derived extracellular vesicles as enzyme delivery vehicle to treat Morquio A fibroblasts. Stem Cell Res Ther. 2021 May 6;12(1):276. doi: 10.1186/s13287-021-02355-0.
Li C, Desai AK, Gupta P, Dempsey K, Bhambhani V, Hopkin RJ, Ficicioglu C, Tanpaiboon P, Craigen WJ, Rosenberg AS, Kishnani PS. Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction. Genet Med. 2021 May;23(5):845-855. doi: 10.1038/s41436-020-01080-y. Epub 2021 Jan 25.
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Patterson MC, Mengel E, Vanier MT, Schwierin B, Muller A, Cornelisse P, Pineda M; NPC Registry investigators. Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study. Orphanet J Rare Dis. 2015 May 28;10:65. doi: 10.1186/s13023-015-0284-z.
Parikh S, Bernard G, Leventer RJ, van der Knaap MS, van Hove J, Pizzino A, McNeill NH, Helman G, Simons C, Schmidt JL, Rizzo WB, Patterson MC, Taft RJ, Vanderver A; GLIA Consortium. A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. Mol Genet Metab. 2015 Apr;114(4):501-515. doi: 10.1016/j.ymgme.2014.12.434. Epub 2014 Dec 29.
Vanderver A, Prust M, Tonduti D, Mochel F, Hussey HM, Helman G, Garbern J, Eichler F, Labauge P, Aubourg P, Rodriguez D, Patterson MC, Van Hove JL, Schmidt J, Wolf NI, Boespflug-Tanguy O, Schiffmann R, van der Knaap MS; GLIA Consortium. Case definition and classification of leukodystrophies and leukoencephalopathies. Mol Genet Metab. 2015 Apr;114(4):494-500. doi: 10.1016/j.ymgme.2015.01.006. Epub 2015 Jan 29.
Van Haren K, Bonkowsky JL, Bernard G, Murphy JL, Pizzino A, Helman G, Suhr D, Waggoner J, Hobson D, Vanderver A, Patterson MC; GLIA Consortium. Consensus statement on preventive and symptomatic care of leukodystrophy patients. Mol Genet Metab. 2015 Apr;114(4):516-26. doi: 10.1016/j.ymgme.2014.12.433. Epub 2014 Dec 27.
Helman G, Van Haren K, Bonkowsky JL, Bernard G, Pizzino A, Braverman N, Suhr D, Patterson MC, Ali Fatemi S, Leonard J, van der Knaap MS, Back SA, Damiani S, Goldman SA, Takanohashi A, Petryniak M, Rowitch D, Messing A, Wrabetz L, Schiffmann R, Eichler F, Escolar ML, Vanderver A; GLIA Consortium. Disease specific therapies in leukodystrophies and leukoencephalopathies. Mol Genet Metab. 2015 Apr;114(4):527-36. doi: 10.1016/j.ymgme.2015.01.014. Epub 2015 Feb 7.
Tan QK, Stockton DW, Pivnick E, Choudhri AF, Hines-Dowell S, Pena LD, Deimling MA, Freemark MS, Kishnani PS. Premature pubarche in children with Pompe disease. J Pediatr. 2015 Apr;166(4):1075-8.e1. doi: 10.1016/j.jpeds.2014.12.074. Epub 2015 Feb 14.
Shapiro EG, Nestrasil I, Ahmed A, Wey A, Rudser KR, Delaney KA, Rumsey RK, Haslett PA, Whitley CB, Potegal M. Quantifying behaviors of children with Sanfilippo syndrome: the Sanfilippo Behavior Rating Scale. Mol Genet Metab. 2015 Apr;114(4):594-8. doi: 10.1016/j.ymgme.2015.02.008. Epub 2015 Mar 5.
Utz JR, Crutcher T, Schneider J, Sorgen P, Whitley CB. Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses. Mol Genet Metab. 2015 Feb;114(2):274-80. doi: 10.1016/j.ymgme.2014.11.015. Epub 2014 Dec 6.
Yund B, Rudser K, Ahmed A, Kovac V, Nestrasil I, Raiman J, Mamak E, Harmatz P, Steiner R, Lau H, Vekaria P, Wozniak JR, Lim KO, Delaney K, Whitley C, Shapiro EG. Cognitive, medical, and neuroimaging characteristics of attenuated mucopolysaccharidosis type II. Mol Genet Metab. 2015 Feb;114(2):170-7. doi: 10.1016/j.ymgme.2014.12.299. Epub 2014 Dec 9.
Wolf DA, Banerjee S, Hackett PB, Whitley CB, McIvor RS, Low WC. Gene therapy for neurologic manifestations of mucopolysaccharidoses. Expert Opin Drug Deliv. 2015 Feb;12(2):283-96. doi: 10.1517/17425247.2015.966682. Epub 2014 Dec 16.
Mauer M, Glynn E, Svarstad E, Tøndel C, Gubler MC, West M, Sokolovskiy A, Whitley C, Najafian B. Mosaicism of podocyte involvement is related to podocyte injury in females with Fabry disease. PLoS One. 2014 Nov 11;9(11):e112188. doi: 10.1371/journal.pone.0112188. eCollection 2014.
Patterson MC. Brave New World. Child Neurol Open. 2014 Aug 26;1(1):2329048X14542399. doi: 10.1177/2329048X14542399. eCollection 2014 Jul-Sep.
Rumsey RK, Rudser K, Delaney K, Potegal M, Whitley CB, Shapiro E. Acquired autistic behaviors in children with mucopolysaccharidosis type IIIA. J Pediatr. 2014 May;164(5):1147-1151.e1. doi: 10.1016/j.jpeds.2014.01.007. Epub 2014 Feb 25.
Leroy JG, Sillence D, Wood T, Barnes J, Lebel RR, Friez MJ, Stevenson RE, Steet R, Cathey SS. A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain. Eur J Hum Genet. 2014 May;22(5):594-601. doi: 10.1038/ejhg.2013.207. Epub 2013 Sep 18.
Schiffmann R, Forni S, Swift C, Brignol N, Wu X, Lockhart DJ, Blankenship D, Wang X, Grayburn PA, Taylor MR, Lowes BD, Fuller M, Benjamin ER, Sweetman L. Risk of death in heart disease is associated with elevated urinary globotriaosylceramide. J Am Heart Assoc. 2014 Feb 4;3(1):e000394. doi: 10.1161/JAHA.113.000394.
Wang RY, Braunlin EA, Rudser KD, Dengel DR, Metzig AM, Covault KK, Polgreen LE, Shapiro E, Steinberger J, Kelly AS. Carotid intima-media thickness is increased in patients with treated mucopolysaccharidosis types I and II, and correlates with arterial stiffness. Mol Genet Metab. 2014 Feb;111(2):128-32. doi: 10.1016/j.ymgme.2013.11.001. Epub 2013 Nov 12.
Polgreen LE, Thomas W, Orchard PJ, Whitley CB, Miller BS. Effect of recombinant human growth hormone on changes in height, bone mineral density, and body composition over 1-2 years in children with Hurler or Hunter syndrome. Mol Genet Metab. 2014 Feb;111(2):101-6. doi: 10.1016/j.ymgme.2013.11.013. Epub 2013 Dec 11.
None listed. Lysosomal Disease Network's WORLD Symposium™ 2014. Mol Genet Metab. 2014 Feb;111(2):S2-6. doi: 10.1016/j.ymgme.2014.01.003. Epub 2014 Jan 9.
Ahmed A, Whitley CB, Cooksley R, Rudser K, Cagle S, Ali N, Delaney K, Yund B, Shapiro E. Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome. Mol Genet Metab. 2014 Feb;111(2):123-7. doi: 10.1016/j.ymgme.2013.11.014. Epub 2013 Dec 12.
Schiffmann R, Mayfield J, Swift C, Nestrasil I. Quantitative neuroimaging in mucolipidosis type IV. Mol Genet Metab. 2014 Feb;111(2):147-51. doi: 10.1016/j.ymgme.2013.11.007. Epub 2013 Nov 21.
Prater SN, Banugaria SG, Morgan C, Sung CC, Rosenberg AS, Kishnani PS. Letter to the Editors: Concerning "CRIM-negative Pompe disease patients with satisfactory clinical outcomes on enzyme replacement therapy" by Al Khallaf et al. J Inherit Metab Dis. 2014 Jan;37(1):141-3. doi: 10.1007/s10545-013-9637-8. Epub 2013 Jul 26.
Polgreen LE, Thomas W, Fung E, Viskochil D, Stevenson DA, Steinberger J, Orchard P, Whitley CB, Ensrud KE. Low bone mineral content and challenges in interpretation of dual-energy X-ray absorptiometry in children with mucopolysaccharidosis types I, II, and VI. J Clin Densitom. 2014 Jan-Mar;17(1):200-6. doi: 10.1016/j.jocd.2013.03.004. Epub 2013 Apr 2.
Stevenson DA, Rudser K, Kunin-Batson A, Fung EB, Viskochil D, Shapiro E, Orchard PJ, Whitley CB, Polgreen LE. Biomarkers of bone remodeling in children with mucopolysaccharidosis types I, II, and VI. J Pediatr Rehabil Med. 2014;7(2):159-65. doi: 10.3233/PRM-140285.
Taylor NE, Dengel DR, Lund TC, Rudser KD, Orchard PJ, Steinberger J, Whitley CB, Polgreen LE. Isokinetic muscle strength differences in patients with mucopolysaccharidosis I, II, and VI. J Pediatr Rehabil Med. 2014;7(4):353-60. doi: 10.3233/PRM-140305.
Delaney KA, Rudser KR, Yund BD, Whitley CB, Haslett PA, Shapiro EG. Methods of neurodevelopmental assessment in children with neurodegenerative disease: Sanfilippo syndrome. JIMD Rep. 2014;13:129-37. doi: 10.1007/8904_2013_269. Epub 2013 Nov 5.
Vera M, Le S, Kan SH, Garban H, Naylor D, Mlikotic A, Kaitila I, Harmatz P, Chen A, Dickson P. Immune response to intrathecal enzyme replacement therapy in mucopolysaccharidosis I patients. Pediatr Res. 2013 Dec;74(6):712-20. doi: 10.1038/pr.2013.158. Epub 2013 Sep 3.
Schulz A, Kohlschütter A, Mink J, Simonati A, Williams R. NCL diseases - clinical perspectives. Biochim Biophys Acta. 2013 Nov;1832(11):1801-6. doi: 10.1016/j.bbadis.2013.04.008. Epub 2013 Apr 17.
Dolisca SB, Mehta M, Pearce DA, Mink JW, Maria BL. Batten disease: clinical aspects, molecular mechanisms, translational science, and future directions. J Child Neurol. 2013 Sep;28(9):1074-100. doi: 10.1177/0883073813493665. Epub 2013 Jul 9.
Mink JW, Augustine EF, Adams HR, Marshall FJ, Kwon JM. Classification and natural history of the neuronal ceroid lipofuscinoses. J Child Neurol. 2013 Sep;28(9):1101-5. doi: 10.1177/0883073813494268. Epub 2013 Jul 9.
Augustine EF, Adams HR, Mink JW. Clinical trials in rare disease: challenges and opportunities. J Child Neurol. 2013 Sep;28(9):1142-50. doi: 10.1177/0883073813495959.
Adams HR, Mink JW; University of Rochester Batten Center Study Group. Neurobehavioral features and natural history of juvenile neuronal ceroid lipofuscinosis (Batten disease). J Child Neurol. 2013 Sep;28(9):1128-36. doi: 10.1177/0883073813494813.
de Blieck EA, Augustine EF, Marshall FJ, Adams H, Cialone J, Dure L, Kwon JM, Newhouse N, Rose K, Rothberg PG, Vierhile A, Mink JW; Batten Study Group. Methodology of clinical research in rare diseases: development of a research program in juvenile neuronal ceroid lipofuscinosis (JNCL) via creation of a patient registry and collaboration with patient advocates. Contemp Clin Trials. 2013 Jul;35(2):48-54. doi: 10.1016/j.cct.2013.04.004. Epub 2013 Apr 26.
Holmay MJ, Terpstra M, Coles LD, Mishra U, Ahlskog M, Öz G, Cloyd JC, Tuite PJ. N-Acetylcysteine boosts brain and blood glutathione in Gaucher and Parkinson diseases. Clin Neuropharmacol. 2013 Jul-Aug;36(4):103-6. doi: 10.1097/WNF.0b013e31829ae713.
Banugaria SG, Prater SN, Patel TT, Dearmey SM, Milleson C, Sheets KB, Bali DS, Rehder CW, Raiman JA, Wang RA, Labarthe F, Charrow J, Harmatz P, Chakraborty P, Rosenberg AS, Kishnani PS. Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the efficacy of ERT. PLoS One. 2013 Jun 25;8(6):e67052. doi: 10.1371/journal.pone.0067052. Print 2013.
Najafian B, Mauer M, Hopkin RJ, Svarstad E. Renal complications of Fabry disease in children. Pediatr Nephrol. 2013 May;28(5):679-87. doi: 10.1007/s00467-012-2222-9. Epub 2012 Aug 17.
Dyke JP, Sondhi D, Voss HU, Shungu DC, Mao X, Yohay K, Worgall S, Hackett NR, Hollmann C, Yeotsas ME, Jeong AL, Van de Graaf B, Cao I, Kaminsky SM, Heier LA, Rudser KD, Souweidane MM, Kaplitt MG, Kosofsky B, Crystal RG, Ballon D. Assessment of disease severity in late infantile neuronal ceroid lipofuscinosis using multiparametric MR imaging. AJNR Am J Neuroradiol. 2013 Apr;34(4):884-9. doi: 10.3174/ajnr.A3297. Epub 2012 Oct 4.
Patel TT, Banugaria SG, Frush DP, Enterline DS, Tanpaiboon P, Kishnani PS. Basilar artery aneurysm: a new finding in classic infantile Pompe disease. Muscle Nerve. 2013 Apr;47(4):613-5. doi: 10.1002/mus.23659. Epub 2013 Feb 10.
Banugaria SG, Prater SN, McGann JK, Feldman JD, Tannenbaum JA, Bailey C, Gera R, Conway RL, Viskochil D, Kobori JA, Rosenberg AS, Kishnani PS. Bortezomib in the rapid reduction of high sustained antibody titers in disorders treated with therapeutic protein: lessons learned from Pompe disease. Genet Med. 2013 Feb;15(2):123-31. doi: 10.1038/gim.2012.110. Epub 2012 Oct 11.
Eisengart JB, Rudser KD, Tolar J, Orchard PJ, Kivisto T, Ziegler RS, Whitley CB, Shapiro EG. Enzyme replacement is associated with better cognitive outcomes after transplant in Hurler syndrome. J Pediatr. 2013 Feb;162(2):375-80.e1. doi: 10.1016/j.jpeds.2012.07.052. Epub 2012 Sep 10.
Whitley C. Lysosomal Disease Network's WORLD Symposium™ 2013. Mol Genet Metab. 2013 Feb;108(2):S2-7. doi: 10.1016/j.ymgme.2012.12.003. Epub 2012 Dec 25.
Potegal M, Yund B, Rudser K, Ahmed A, Delaney K, Nestrasil I, Whitley CB, Shapiro EG. Mucopolysaccharidosis Type IIIA presents as a variant of Klüver-Bucy syndrome. J Clin Exp Neuropsychol. 2013;35(6):608-16. doi: 10.1080/13803395.2013.804035. Epub 2013 Jun 8.
Shapiro E, Guler OE, Rudser K, Delaney K, Bjoraker K, Whitley C, Tolar J, Orchard P, Provenzale J, Thomas KM. An exploratory study of brain function and structure in mucopolysaccharidosis type I: long term observations following hematopoietic cell transplantation (HCT). Mol Genet Metab. 2012 Sep;107(1-2):116-21. doi: 10.1016/j.ymgme.2012.07.016. Epub 2012 Jul 20.
Prater SN, Banugaria SG, DeArmey SM, Botha EG, Stege EM, Case LE, Jones HN, Phornphutkul C, Wang RY, Young SP, Kishnani PS. The emerging phenotype of long-term survivors with infantile Pompe disease. Genet Med. 2012 Sep;14(9):800-10. doi: 10.1038/gim.2012.44. Epub 2012 Apr 26.
Lo SM, Choi M, Liu J, Jain D, Boot RG, Kallemeijn WW, Aerts JM, Pashankar F, Kupfer GM, Mane S, Lifton RP, Mistry PK. Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis. Blood. 2012 May 17;119(20):4731-40. doi: 10.1182/blood-2011-10-386862. Epub 2012 Apr 4.
Cialone J, Adams H, Augustine EF, Marshall FJ, Kwon JM, Newhouse N, Vierhile A, Levy E, Dure LS, Rose KR, Ramirez-Montealegre D, de Blieck EA, Mink JW. Females experience a more severe disease course in Batten disease. J Inherit Metab Dis. 2012 May;35(3):549-55. doi: 10.1007/s10545-011-9421-6. Epub 2011 Dec 14.
Freeze HH, Eklund EA, Ng BG, Patterson MC. Neurology of inherited glycosylation disorders. Lancet Neurol. 2012 May;11(5):453-66. doi: 10.1016/S1474-4422(12)70040-6.
Banugaria SG, Patel TT, Mackey J, Das S, Amalfitano A, Rosenberg AS, Charrow J, Chen YT, Kishnani PS. Persistence of high sustained antibodies to enzyme replacement therapy despite extensive immunomodulatory therapy in an infant with Pompe disease: need for agents to target antibody-secreting plasma cells. Mol Genet Metab. 2012 Apr;105(4):677-80. doi: 10.1016/j.ymgme.2012.01.019. Epub 2012 Jan 28.
Bali DS, Goldstein JL, Banugaria S, Dai J, Mackey J, Rehder C, Kishnani PS. Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience. Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):40-9. doi: 10.1002/ajmg.c.31319. Epub 2012 Jan 17.
Whitley CB. Lysosomal Disease Network's WORLD Symposium™ 2012. Mol Genet Metab. 2012 Feb;105(2):S3-6. doi: 10.1016/j.ymgme.2011.12.001. Epub 2011 Dec 7.
Messinger YH, Mendelsohn NJ, Rhead W, Dimmock D, Hershkovitz E, Champion M, Jones SA, Olson R, White A, Wells C, Bali D, Case LE, Young SP, Rosenberg AS, Kishnani PS. Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease. Genet Med. 2012 Jan;14(1):135-42. doi: 10.1038/gim.2011.4.
Abbott MA, Prater SN, Banugaria SG, Richards SM, Young SP, Rosenberg AS, Kishnani PS. Atypical immunologic response in a patient with CRIM-negative Pompe disease. Mol Genet Metab. 2011 Dec;104(4):583-6. doi: 10.1016/j.ymgme.2011.08.003. Epub 2011 Aug 11.
Kwon JM, Adams H, Rothberg PG, Augustine EF, Marshall FJ, Deblieck EA, Vierhile A, Beck CA, Newhouse NJ, Cialone J, Levy E, Ramirez-Montealegre D, Dure LS, Rose KR, Mink JW. Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease). Neurology. 2011 Nov 15;77(20):1801-7. doi: 10.1212/WNL.0b013e318237f649. Epub 2011 Oct 19.
Cialone J, Augustine EF, Newhouse N, Vierhile A, Marshall FJ, Mink JW. Quantitative telemedicine ratings in Batten disease: implications for rare disease research. Neurology. 2011 Nov 15;77(20):1808-11. doi: 10.1212/WNL.0b013e3182377e29. Epub 2011 Oct 19.
Bley AE, Giannikopoulos OA, Hayden D, Kubilus K, Tifft CJ, Eichler FS. Natural history of infantile G(M2) gangliosidosis. Pediatrics. 2011 Nov;128(5):e1233-41. doi: 10.1542/peds.2011-0078. Epub 2011 Oct 24.
Cialone J, Augustine EF, Newhouse N, Adams H, Vierhile A, Marshall FJ, de Blieck EA, Kwon J, Rothberg PG, Mink JW. Parent-reported benefits of flupirtine in juvenile neuronal ceroid lipofuscinosis (Batten disease; CLN3) are not supported by quantitative data. J Inherit Metab Dis. 2011 Oct;34(5):1075-81. doi: 10.1007/s10545-011-9346-0. Epub 2011 May 10.
El-Gharbawy AH, Mackey J, DeArmey S, Westby G, Grinnell SG, Malovrh P, Conway R, Kishnani PS. An individually, modified approach to desensitize infants and young children with Pompe disease, and significant reactions to alglucosidase alfa infusions. Mol Genet Metab. 2011 Sep-Oct;104(1-2):118-22. doi: 10.1016/j.ymgme.2011.07.004. Epub 2011 Jul 13.
Banugaria SG, Prater SN, Ng YK, Kobori JA, Finkel RS, Ladda RL, Chen YT, Rosenberg AS, Kishnani PS. The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease. Genet Med. 2011 Aug;13(8):729-36. doi: 10.1097/GIM.0b013e3182174703.
Dickson PI, Chen AH. Intrathecal enzyme replacement therapy for mucopolysaccharidosis I: translating success in animal models to patients. Curr Pharm Biotechnol. 2011 Jun;12(6):946-55. doi: 10.2174/138920111795542642.
Kerr DA, Memoli VA, Cathey SS, Harris BT. Mucolipidosis type III α/β: the first characterization of this rare disease by autopsy. Arch Pathol Lab Med. 2011 Apr;135(4):503-10. doi: 10.5858/2010-0236-CR.1.
Najafian B, Svarstad E, Bostad L, Gubler MC, Tøndel C, Whitley C, Mauer M. Progressive podocyte injury and globotriaosylceramide (GL-3) accumulation in young patients with Fabry disease. Kidney Int. 2011 Mar;79(6):663-670. doi: 10.1038/ki.2010.484. Epub 2010 Dec 15.
Dickson PI, Pariser AR, Groft SC, Ishihara RW, McNeil DE, Tagle D, Griebel DJ, Kaler SG, Mink JW, Shapiro EG, Bjoraker KJ, Krivitzky L, Provenzale JM, Gropman A, Orchard P, Raymond G, Cohen BH, Steiner RD, Goldkind SF, Nelson RM, Kakkis E, Patterson MC. Research challenges in central nervous system manifestations of inborn errors of metabolism. Mol Genet Metab. 2011 Mar;102(3):326-38. doi: 10.1016/j.ymgme.2010.11.164. Epub 2010 Dec 2.
Sowell J, Wood T. Towards a selected reaction monitoring mass spectrometry fingerprint approach for the screening of oligosaccharidoses. Anal Chim Acta. 2011 Feb 7;686(1-2):102-6. doi: 10.1016/j.aca.2010.11.047. Epub 2010 Dec 7.
Najafian B, Mauer M. Quantitating glomerular endothelial fenestration: an unbiased stereological approach. Am J Nephrol. 2011;33 Suppl 1(Suppl 1):34-9. doi: 10.1159/000327075. Epub 2011 Jun 10.
Patterson MC. Movers and shakers: diagnosing neurotransmitter diseases with CSF. Neurology. 2010 Jul 6;75(1):15-7. doi: 10.1212/WNL.0b013e3181e9aeea. Epub 2010 Jun 9.
David-Vizcarra G, Briody J, Ault J, Fietz M, Fletcher J, Savarirayan R, Wilson M, McGill J, Edwards M, Munns C, Alcausin M, Cathey S, Sillence D. The natural history and osteodystrophy of mucolipidosis types II and III. J Paediatr Child Health. 2010 Jun;46(6):316-22. doi: 10.1111/j.1440-1754.2010.01715.x. Epub 2010 Mar 29.
Ramaswami U, Najafian B, Schieppati A, Mauer M, Bichet DG. Assessment of renal pathology and dysfunction in children with Fabry disease. Clin J Am Soc Nephrol. 2010 Feb;5(2):365-70. doi: 10.2215/CJN.08091109. Epub 2010 Jan 7.
Kishnani PS, Goldenberg PC, DeArmey SL, Heller J, Benjamin D, Young S, Bali D, Smith SA, Li JS, Mandel H, Koeberl D, Rosenberg A, Chen YT. Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants. Mol Genet Metab. 2010 Jan;99(1):26-33. doi: 10.1016/j.ymgme.2009.08.003.
Cathey SS, Leroy JG, Wood T, Eaves K, Simensen RJ, Kudo M, Stevenson RE, Friez MJ. Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands. J Med Genet. 2010 Jan;47(1):38-48. doi: 10.1136/jmg.2009.067736. Epub 2009 Jul 16.
Polgreen LE, Miller BS. Growth patterns and the use of growth hormone in the mucopolysaccharidoses. J Pediatr Rehabil Med. 2010;3(1):25-38. doi: 10.3233/PRM-2010-0106.
Fan F, Liu Q, Zee J, Ozeki T, Demeke D, Yang Y, Bitzer M, O'Connor CL, Farris AB, Wang B, Shah M, Jacobs J, Mariani L, Lafata KJ, Rubin J, Chen Y, Holzman LB, Hodgin JB, Madabhushi A, Barisoni L, Janowczyk A. Clinical relevance of computationally derived tubular features and their spatial relationships with the interstitial microenvironment in minimal change disease/focal segmental glomerulosclerosis. Kidney Int. 2025 Aug;108(2):293-309. doi: 10.1016/j.kint.2025.04.026. Epub 2025 May 21. PMID: 40409668; PMCID: PMC12302419.
Minimal change disease (MCD) and focal segmental glomerulosclerosis (FSGS) are kidney disorders characterized by damaged glomeruli, which are kidney structures responsible for filtering the blood and removing waste in urine. Damage to the tubules—small tubes within the kidneys—is a sign of disease progression in MCD and FSGS. However, visual evaluation of tubular damage does not always capture the full extent of damage.
In this study, researchers used computational methods to evaluate tubular features in MCD and FSGS. First, the team applied deep learning and image analysis approaches to whole slide image kidney biopsies of participants with MCD and FSGS. Next, they integrated tubular characteristics with clinical data.
Results revealed nine tubular features that were biomarkers of disease progression. Authors note that this method can potentially improve risk prediction and help personalize treatment plans.
Walker C, Talawalla T, Toth R, Ambekar A, Rea K, Chamian O, Fan F, Berezowska S, Rottenberg S, Madabhushi A, Maillard M, Barisoni L, Horlings HM, Janowczyk A. PatchSorter: a high throughput deep learning digital pathology tool for object labeling. NPJ Digit Med. 2024 Jun 20;7(1):164. doi: 10.1038/s41746-024-01150-4. PMID: 38902336; PMCID: PMC11190251.
Histology slides are used to study tissues and organs under a microscope. Increasingly, slides are being digitized into whole slide images, which are sequential images stitched together to create a single high-resolution file. These images can help us discover patterns associated with diagnosis, prognosis, and therapy response. However, in order to reveal these patterns, a large number of objects in the images must be labeled—for example, a single image may contain over 1 million cells.
In this study, researchers used an artificial intelligence tool to improve digital pathology labeling. The team tested the tool in four use cases with objects containing various numbers of cells and cell types. These use cases included renal tubules (small tubes in the kidneys) and glomeruli (small balls of capillaries in the kidneys).
Results show that the tool, PatchSorter, improves label efficiency, allowing the user to leverage deep learning to quickly review and apply labels at a group level. Authors note that these labels are also highly accurate.
Troost JP, D'Souza J, Buxton M, Kshirsagar AV, Engel LS, O'Lenick CR, Smoyer WE, Klein J, Ju W, Eddy S, Helmuth M, Mariani LH, Kretzler M, Trachtman H. : Elevated Exposure to Air Pollutants Accelerates Primary Glomerular Disease Progression. Kidney Int Rep. 2024 May 18;9(8):2527-2536. doi: 10.1016/j.ekir.2024.05.013. PMID: 39156153; PMCID: PMC11328569.
Primary glomerular diseases are a group of conditions that affect kidney function by attacking the glomeruli, which are kidney structures responsible for filtering the blood and removing waste in urine. Not much is known about how environmental factors contribute to the progression of primary glomerular diseases.
In this study, researchers explored how residential air pollution affects disease progression in patients with primary glomerular diseases. Among 228 patients from the Nephrotic Syndrome Study Network (NEPTUNE) and 697 patients from CureGlomerulonephropathy (CureGN), the team studied residential census data and two years or more of follow-up. Researchers examined the associations between air pollution—including particulate matter, black carbon, and sulfates—and molecular markers of disease progression.
Results show that elevated exposure to particulate matter and black carbon is associated with an increased risk of disease progression in patients with primary glomerular diseases. Authors note that by identifying air pollution as a potentially modifiable external risk factor for kidney disease progression, health outcomes could be improved for patients with primary glomerulopathies.
Trachtman H, Desmond H, Williams AL, Mariani LH, Eddy S, Ju W, Barisoni L, Ascani HK, Uhlmann WR, Spino C, Holzman LB, Sedor JR, Gadegbeku C, Subramanian L, Lienczewski CC, Manieri T, Roberts SJ, Gipson DS, Kretzler M; NEPTUNE investigators. Rationale and design of the Nephrotic Syndrome Study Network (NEPTUNE) Match in glomerular diseases: designing the right trial for the right patient, today. Kidney Int. 2024 Feb;105(2):218-230. doi: 10.1016/j.kint.2023.11.018. PMID: 38245210
Glomerular diseases are a group of rare conditions that affect kidney function by attacking the glomeruli, causing problems with the kidney’s filtering system. These diseases include focal segmental glomerular sclerosis (FSGS), minimal change disease, and membranous nephropathy. Glomerular diseases are associated with debilitating symptoms like swelling, protein leakage in urine, and loss of kidney function, sometimes leading to kidney failure. Despite the same diagnosis, response to treatment and disease progression can vary considerably, suggesting differences in disease biology. Few treatments are available, and the efficacy of approved treatments and potential drugs in clinical trials are diminished when patients with differing disease biology are grouped together.
In this paper, researchers describe the design and implementation of the NEPTUNE Match study. This study is designed to effectively communicate individualized reports to participants and their physicians about the molecular features of their disease state, informing decisions about the suitability of available clinical trials and treatment options. This also paves the way for patients with different rare diseases who share a common disease pathway to be treated using existing, approved drugs.
Authors note that NEPTUNE Match represents the first application of precision medicine in nephrology with the aim of developing targeted therapies and providing the right medication for each patient with primary glomerular disease.
Modi ZJ, Zhai Y, Yee J, Desmond H, Hao W, Sampson MG, Sethna CB, Wang CS, Gipson DS, Trachtman H, Kretzler M; NEPTUNE investigators. Pediatric contributions and lessons learned from the NEPTUNE cohort study. Pediatr Nephrol. 2024 Jan 18. doi: 10.1007/s00467-023-06256-7. Epub ahead of print. PMID: 38233720
Primary glomerular diseases are a group of conditions that affect kidney function by attacking the glomeruli, which are kidney structures responsible for filtering the blood and removing waste in urine. NEPTUNE is a rare disease network that focuses on patients with minimal change disease, focal segmental glomerulosclerosis, and membranous nephropathy. The NEPTUNE longitudinal cohort study collects detailed demographic, clinical, histopathologic, genomic, transcriptomic, and metabolomic data from patients of all ages to develop a molecular classification for these disorders.
In this review, researchers provide a snapshot of pediatric patients and lessons learned from the NEPTUNE cohort study. The team summarizes key observations and describes the development of the NEPTUNE Match program, which provides individualized guidance about potential clinical trial participation based on the molecular characterization and non-invasive biomarker profile of each patient.
Authors note that NEPTUNE has proven to be an invaluable asset in the study of glomerular diseases in patients of all ages, including children and adolescents.
Gupta Y, Friedman DJ, McNulty MT, Khan A, Lane B, Wang C, Ke J, Jin G, Wooden B, Knob AL, Lim TY, Appel GB, Huggins K, Liu L, Mitrotti A, Stangl MC, Bomback A, Westland R, Bodria M, Marasa M, Shang N, Cohen DJ, Crew RJ, Morello W, Canetta P, Radhakrishnan J, Martino J, Liu Q, Chung WK, Espinoza A, Luo Y, Wei WQ, Feng Q, Weng C, Fang Y, Kullo IJ, Naderian M, Limdi N, Irvin MR, Tiwari H, Mohan S, Rao M, Dube GK, Chaudhary NS, Gutiérrez OM, Judd SE, Cushman M, Lange LA, Lange EM, Bivona DL, Verbitsky M, Winkler CA, Kopp JB, Santoriello D, Batal I, Pinheiro SVB, Oliveira EA, Simoes E Silva AC, Pisani I, Fiaccadori E, Lin F, Gesualdo L, Amoroso A, Ghiggeri GM, D'Agati VD, Magistroni R, Kenny EE, Loos RJF, Montini G, Hildebrandt F, Paul DS, Petrovski S, Goldstein DB, Kretzler M, Gbadegesin R, Gharavi AG, Kiryluk K, Sampson MG, Pollak MR, Sanna-Cherchi S. Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease. Nat Commun. 2023 Nov 30;14(1):7836. doi: 10.1038/s41467-023-43020-9. PMID: 38036523; PMCID: PMC10689833
Focal segmental glomerulosclerosis (FSGS) is a kidney disorder characterized by scarring of a limited number of glomeruli (kidney structures responsible for filtering the blood and removing waste in urine). African Americans have a significantly higher risk of developing chronic kidney disease, especially FSGS, than European Americans. Two coding variants (G1 and G2) in the APOL1 gene play a major role in this disparity.
In this study, researchers investigated the role of the APOL1 p.N264K variant in G2-associated FSGS and chronic kidney disease. The team compared the frequency of this variant in patients with FSGS and those without kidney disease, conducting a comprehensive analysis to explore its impact.
Results show a strong protective effect of the variant against APOL1-related FSGS and chronic kidney disease, countering the toxic effect of the G2 allele. Authors note that this allows APOL1 high-risk individuals to be reclassified as non-high-risk if they carry the variant.
Marchel D, Trachtman H, Larkina M, Helmuth M, Lai Yee JY, Fermin D, Bomback AS, Canetta PA, Gipson DS, Mottl AK, Parekh RS, Saha MK, Sampson MG, Lafayette RA, Mariani LH; Nephrotic Syndrome Study Network (NEPTUNE); Cure Glomerulonephropathy (CureGN). The Significance of Hematuria in Podocytopathies. Clin J Am Soc Nephrol. 2023 Sep 21. doi: 10.2215/CJN.0000000000000309. Epub ahead of print. PMID: 37733352
Podocytopathies are kidney diseases in which injury to podocytes (cells that form the last barrier of the kidney filtration unit) cause nephrotic syndrome. Hematuria (blood in urine) is common in podocytopathies. However, the significance and predictive value of hematuria in these diseases is not well understood.
In this study, researchers describe the prevalence and association between hematuria and kidney-related outcomes in podocytopathies. The team assessed hematuria in urine samples from 1,516 adults and children with podocytopathies.
Results show that hematuria was prevalent among participants and associated with worse kidney-related outcomes, including progressive loss of kidney function and lower rates of proteinuria remission.
Lassé M, El Saghir J, Berthier CC, Eddy S, Fischer M, Laufer SD, Kylies D, Hutzfeldt A, Bonin LL, Dumoulin B, Menon R, Vega-Warner V, Eichinger F, Alakwaa F, Fermin D, Billing AM, Minakawa A, McCown PJ, Rose MP, Godfrey B, Meister E, Wiech T, Noriega M, Chrysopoulou M, Brandts P, Ju W, Reinhard L, Hoxha E, Grahammer F, Lindenmeyer MT, Huber TB, Schlüter H, Thiel S, Mariani LH, Puelles VG, Braun F, Kretzler M, Demir F, Harder JL, Rinschen MM. An integrated organoid omics map extends modeling potential of kidney disease. Nat Commun. 2023 Aug 14;14(1):4903. doi: 10.1038/s41467-023-39740-7. PMID: 37580326; PMCID: PMC10425428
Kidney diseases are characterized by damage and loss of function in the kidneys. Kidney organoids are a promising model to study kidney disease. However, a better understanding of these models and their relevance to disease is critical to advance their use.
In this study, researchers created an integrated kidney organoid omics map, capturing the complexity of human kidney disease. The team combined omics data from organoid disease models and other preclinical models with data from humans with disease, showing that both inflammation and fibrosis can be rapidly triggered in organoids even in the absence of immune cells.
The new map will enable modeling of more complex kidney disease, driving better outcomes for patients. Authors suggest that other kidney disease researchers can integrate these datasets with their own to improve and refine the creation of organoids relevant to kidney disease.
Lake BB, Menon R, Winfree S, Hu Q, Ferreira RM, Kalhor K, Barwinska D, Otto EA, Ferkowicz M, Diep D, Plongthongkum N, Knoten A, Urata S, Mariani LH, Naik AS, Eddy S, Zhang B, Wu Y, Salamon D, Williams JC, Wang X, Balderrama KS, Hoover PJ, Murray E, Marshall JL, Noel T, Vijayan A, Hartman A, Chen F, Waikar SS, Rosas SE, Wilson FP, Palevsky PM, Kiryluk K, Sedor JR, Toto RD, Parikh CR, Kim EH, Satija R, Greka A, Macosko EZ, Kharchenko PV, Gaut JP, Hodgin JB; KPMP Consortium; Eadon MT, Dagher PC, El-Achkar TM, Zhang K, Kretzler M, Jain S. An atlas of healthy and injured cell states and niches in the human kidney. Nature. 2023 Jul;619(7970):585-594. doi: 10.1038/s41586-023-05769-3. Epub 2023 Jul 19. PMID: 37468583; PMCID: PMC10356613
Kidney diseases are characterized by damage and loss of function in the kidneys. Due to the complexity of the kidney, models that accurately represent human kidney structures and function have been difficult to develop. Without these models, the development of new drugs to treat or prevent kidney disease has been limited.
In this study, a nationwide research team aimed to create the most comprehensive atlas of the human kidney. The team used multiple techniques—including single-cell assays, single-nucleus assays, and spatial imaging technologies—to analyze both healthy reference kidneys and diseased kidneys.
The resulting Kidney Tissue Atlas includes maps of 51 main kidney cell types from rare and novel cell populations, 28 kidney cellular states representing injury or disease, a repository of raw gene data, and interactive 3D models of cells and microenvironment relationships. By allowing the comparison of healthy kidney cells to those injured by kidney disease, data from the new atlas will help investigators understand the factors that contribute to the progression of kidney disease and kidney failure or recovery from injury.
Mariani LH, Eddy S, AlAkwaa FM, McCown PJ, Harder JL, Nair V, Eichinger F, Martini S, Ademola AD, Boima V, Reich HN, El Saghir J, Godfrey B, Ju W, Tanner EC, Vega-Warner V, Wys NL, Adler SG, Appel GB, Athavale A, Atkinson MA, Bagnasco SM, Barisoni L, Brown E, Cattran DC, Coppock GM, Dell KM, Derebail VK, Fervenza FC, Fornoni A, Gadegbeku CA, Gibson KL, Greenbaum LA, Hingorani SR, Hladunewich MA, Hodgin JB, Hogan MC, Holzman LB, Jefferson JA, Kaskel FJ, Kopp JB, Lafayette RA, Lemley KV, Lieske JC, Lin JJ, Menon R, Meyers KE, Nachman PH, Nast CC, O'Shaughnessy MM, Otto EA, Reidy KJ, Sambandam KK, Sedor JR, Sethna CB, Singer P, Srivastava T, Tran CL, Tuttle KR, Vento SM, Wang CS, Ojo AO, Adu D, Gipson DS, Trachtman H, Kretzler M. Precision nephrology identified tumor necrosis factor activation variability in minimal change disease and focal segmental glomerulosclerosis. Kidney Int.. 2023 Mar;103(3):565-579. doi: 10.1016/j.kint.2022.10.023. Epub 2022 Nov 25. PMID: 36442540
Minimal change disease (MCD) and focal segmental glomerulosclerosis (FSGS) are kidney disorders characterized by damaged glomeruli, which are kidney structures responsible for filtering the blood and removing waste in urine. Although these disorders have similar clinical presentations and treatment approaches, response to therapies and risk of progression to kidney failure varies widely among patients. Personalized treatments are currently unavailable due to limited understanding of disease mechanisms and lack of tools to identify biologically relevant subgroups.
In this study, researchers investigated the molecular pathways that are shared by subgroups of patients with MCD and FSGS. First, the team identified groups of patients with shared molecular signatures from kidney biopsy tissue. Next, they identified the pathways from these signatures that could be evaluated in individual patients using noninvasive markers measured in the urine.
Authors note that these markers of disease mechanisms may enable targeted therapeutic interventions for subgroups of patients with MCD and FSGS.
Pfaff M, Denburg MR, Meyers KE, Brady TM, Leonard MB, Hoofnagle AN, Sethna CB.. Association of Fibroblast Growth Factor 23 with Blood Pressure in Primary Proteinuric Glomerulopathies. Am J Nephrol. 2024;55(2):187-195. doi: 10.1159/000535092. Epub 2023 Dec 21. PMID: 38128487; PMCID: PMC10987260.
Primary proteinuric glomerulopathies are a group of kidney disorders characterized by dysfunction of the glomeruli (kidney structures responsible for filtering the blood and removing waste in urine), leading to elevated protein in the urine. Elevated levels of fibroblast growth factor 23 (FGF23), a hormone that helps regulate kidney function, are a risk factor for cardiovascular disease. However, not much is known about how FGF23 impacts cardiovascular health in proteinuric glomerulopathies.
In this study, researchers investigated the association of FGF23 levels with resting blood pressure and lipids over time in patients with proteinuric glomerulopathies. The team analyzed data from 204 adults and 93 children using generalized estimating equation regression techniques.
Results showed that higher baseline FGF23 levels were significantly associated with hypertensive blood pressure over time. Authors note that FGF23 should be investigated further as a potential therapeutic target for reducing cardiovascular disease in proteinuric glomerulopathies.
Denicolò S, Nair V, Leierer J, Rudnicki M, Kretzler M, Mayer G, Ju W, Perco P. Assessment of Fibrinogen-like 2 (FGL2) in Human Chronic Kidney Disease through Transcriptomics Data Analysis. Biomolecules. 2022 Dec 31;13(1):89. doi: 10.3390/biom13010089. PMID: 36671474; PMCID: PMC9855364
Mitrofanova A, Fontanella A, Tolerico M, Mallela S, Molina David J, Zuo Y, Boulina M, Kim JJ, Santos J, Ge M, Sloan A, Issa W, Gurumani M, Pressly J, Ito M, Kretzler M, Eddy S, Nelson R, Merscher S, Burke G, Fornoni A. Activation of Stimulator of IFN Genes (STING) Causes Proteinuria and Contributes to Glomerular Diseases. J Am Soc Nephrol. 2022 Dec;33(12):2153-2173. doi: 10.1681/ASN.2021101286. Epub 2022 Oct 5. PMID: 36198430; PMCID: PMC9731637
Riella CV, McNulty M, Ribas GT, Tattersfield CF, Perez-Gill C, Eichinger F, Kelly J, Chun J, Subramanian B, Guizelini D; Nephrotic Syndrome Study Network (NEPTUNE), Alper SL, Pollak MR, Sampson MG, Friedman DJ. ADAR regulates APOL1 via A-to-I RNA editing by inhibition of MDA5 activation in a paradoxical biological circuit. Proc Natl Acad Sci U S A. 2022 Nov;119(44):e2210150119. doi: 10.1073/pnas.2210150119. Epub 2022 Oct 25. PMID: 36282916; PMCID: PMC9636950.
Li C, Krothapalli S, Chen YM. Targeting Endoplasmic Reticulum for Novel Therapeutics and Monitoring in Acute Kidney Injury. Nephron. 2022 Sep 16:1-4. doi: 10.1159/000526050. Epub ahead of print. PMID: 36116429
Liu S, Bush WS, Miskimen K, Gonzalez-Vicente A, Bailey JNC, Konidari I, McCauley JL, Sedor JR, O'Toole JF, Crawford DC. T-cell receptor diversity in minimal change disease in the NEPTUNE study. Pediatr Nephrol. 2022 Aug 9. doi: 10.1007/s00467-022-05696-x. Epub ahead of print. PMID: 35943576
McNulty MT, Fermin D, Eichinger F, Jang D, Kretzler M, Burtt NP, Pollak MR, Flannick J, Weins A, Friedman DJ; Nephrotic Syndrome Study Network (NEPTUNE), Sampson MG. A glomerular transcriptomic landscape of apolipoprotein L1 in Black patients with focal segmental glomerulosclerosis. Kidney Int. 2022 Jul;102(1):136-148. doi: 10.1016/j.kint.2021.10.041. Epub 2021 Dec 18.
Zee J, Liu Q, Smith AR, Hodgin JB, Rosenberg A, Gillespie BW, Holzman LB, Barisoni L, Mariani LH; Nephrotic Syndrome Study Network (NEPTUNE); NEPTUNE Members. Kidney Biopsy Features Most Predictive of Clinical Outcomes in the Spectrum of Minimal Change Disease and Focal Segmental Glomerulosclerosis. J Am Soc Nephrol.. 2022 Jul;33(7):1411-1426. doi: 10.1681/ASN.2021101396. Epub 2022 May 17. PMID: 35581011; PMCID: PMC9257823.
Minimal change disease (MCD) and focal segmental glomerulosclerosis (FSGS) are kidney disorders that damage the glomeruli, which are tiny blood vessels in the kidneys. Historically, classification of these disorders has been based on limited features of the glomeruli. Because disease course and treatment response are diverse among patients, a more detailed evaluation of kidney tissue features is needed. In this study, researchers aimed to identify the most important descriptors of clinical outcomes in the Nephrotic Syndrome Study Network (NEPTUNE). The team used supervised machine learning methods—with pathology data collected through applying the NEPTUNE Digital Pathology Scoring System to NEPTUNE kidney biopsies—to evaluate predictors of disease progression, complete proteinuria remission, and treatment response. Researchers found that the most predictive descriptors of outcomes included conventional and novel histologic and ultrastructural features from both glomerular and tubulointerstitial renal compartments. Authors note that standardized reporting of these descriptors could help inform predictions for clinical outcomes.
Sealfon R, Mariani L, Avila-Casado C, Nair V, Menon R, Funk J, Wong A, Lerner G, Hayashi N, Troyanskaya O, Kretzler M, Beck LH Jr. Molecular Characterization of Membranous Nephropathy. J Am Soc Nephrol. 2022 Jun;33(6):1208-1221. doi: 10.1681/ASN.2021060784. Epub 2022 Apr 27.
Hodgin JB, Mariani LH, Zee J, Liu Q, Smith AR, Eddy S, Hartman J, Hamidi H, Gaut JP, Palmer MB, Nast CC, Chang A, Hewitt S, Gillespie BW, Kretzler M, Holzman LB, Barisoni L; Nephrotic Syndrome Study Network (NEPTUNE). Quantification of Glomerular Structural Lesions: Associations With Clinical Outcomes and Transcriptomic Profiles in Nephrotic Syndrome. Am J Kidney Dis. 2022 Jun;79(6):807-819.e1. doi: 10.1053/j.ajkd.2021.10.004. Epub 2021 Dec 3.
Mallela SK, Merscher S, Fornoni A. Implications of Sphingolipid Metabolites in Kidney Diseases. Int J Mol Sci.. 2022 Apr 11;23(8):4244. doi: 10.3390/ijms23084244. PMID: 35457062; PMCID: PMC9025012.
Watts AJB, Keller KH, Lerner G, Rosales I, Collins AB, Sekulic M, Waikar SS, Chandraker A, Riella LV, Alexander MP, Troost JP, Chen J, Fermin D, Yee JL, Sampson MG, Beck LH Jr, Henderson JM, Greka A, Rennke HG, Weins A. Discovery of Autoantibodies Targeting Nephrin in Minimal Change Disease Supports a Novel Autoimmune Etiology. J Am Soc Nephrol. 2022 Jan;33(1):238-252. doi: 10.1681/ASN.2021060794. Epub 2021 Nov 3. PMID: 34732507; PMCID: PMC8763186.
Wang CS, Troost JP, Wang Y, Greenbaum LA, Gibson K, Trachtman H, Srivastava T, Reidy K, Kaskel F, Sethna CB, Meyers K, Dell KM, Tran CL, Hingorani S, Lemley KV, Lin JJ, Gipson DS. Determinants of medication adherence in childhood nephrotic syndrome and associations of adherence with clinical outcomes. Pediatr Nephrol. Wang CS, Troost JP, Wang Y, Greenbaum LA, Gibson K, Trachtman H, Srivastava T, Reidy K, Kaskel F, Sethna CB, Meyers K, Dell KM, Tran CL, Hingorani S, Lemley KV, Lin JJ, Gipson DS. Determinants of medication adherence in childhood nephrotic syndrome and associations 2022 Jul;37(7):1585-1595. doi: 10.1007/s00467-021-05176-8. Epub 2021 Nov 18. PMID: 34796395.
Latt KZ, Heymann J, Jessee JH, Rosenberg AZ, Berthier CC, Arazi A, Eddy S, Yoshida T, Zhao Y, Chen V, Nelson GW, Cam M, Kumar P, Mehta M, Kelly MC, Kretzler M; Nephrotic Syndrome Study Network (NEPTUNE); Accelerating Medicines Partnership in Rheumatoid Arthritis and Systemic Lupus Erythematosus (AMP RA/SLE) Consortium, Ray PE, Moxey-Mims M, Gorman GH, Lechner BL, Regunathan-Shenk R, Raj DS, Susztak K, Winkler CA, Kopp JB. Urine Single-Cell RNA Sequencing in Focal Segmental Glomerulosclerosis Reveals Inflammatory Signatures. Kidney Int Rep. 2021 Nov 25;7(2):289-304. doi: 10.1016/j.ekir.2021.11.005. PMID: 35155868; PMCID: PMC8821042.
Moran SM, Scott J, Clarkson MR, Conlon N, Dunne J, Griffin MD, Griffin TP, Groarke E, Holian J, Judge C, Wyse J, McLoughlin K, O'Hara PV, Little MA, Kretzler M; Nephrotic Syndrome Study Network (NEPTUNE). The Clinical Application of Urine Soluble CD163 in ANCA-Associated Vasculitis. J Am Soc Nephrol. 2021 Nov;32(11):2920-2932. doi: 10.1681/ASN.2021030382. Epub 2021 Sep 13. PMID: 34518279; PMCID: PMC8806104.
Banu K, Lin Q, Basgen JM, Planoutene M, Wei C, Reghuvaran AC, Tian X, Shi H, Garzon F, Garzia A, Chun N, Cumpelik A, Santeusanio AD, Zhang W, Das B, Salem F, Li L, Ishibe S, Cantley LG, Kaufman L, Lemley KV, Ni Z, He JC, Murphy B, Menon MC. AMPK mediates regulation of glomerular volume and podocyte survival. JCI Insight. 2021 Oct 8;6(19):e150004. doi: 10.1172/jci.insight.150004. PMID: 34473647; PMCID: PMC8525649.
Trachtman H, Laskowski J, Lee C, Renner B, Feemster A, Parikh S, Panzer SE, Zhong W, Cravedi P, Cantarelli C, Kulik L, You Z, Satchell S, Rovin B, Liu F, Kalled SL, Holers VM, Jalal D, Thurman JM. Natural antibody and complement activation characterize patients with idiopathic nephrotic syndrome. Am J Physiol Renal Physiol. 2021 Oct 1;321(4):F505-F516. doi: 10.1152/ajprenal.00041.2021. Epub 2021 Aug 30. PMID: 34459222; PMCID: PMC8560405.
Maksimowski NA, Song X, Bae EH, Reich H, John R, Pei Y, Scholey JW, Nephrotic Syndrome Study Network Neptune. Follistatin-Like-1 (FSTL1) Is a Fibroblast-Derived Growth Factor That Contributes to Progression of Chronic Kidney Disease. Int J Mol Sci. 2021;22:9513. doi: 10.3390/ijms22179513. PMID: 34502419; PMCID: PMC8431028.
Zee J, McNulty MT, Hodgin JB, Zhdanova O, Hingorani S, Jefferson JA, Gibson KL, Trachtman H, Fornoni A, Dell KM, Reich HN, Bagnasco S, Greenbaum LA, Lafayette RA, Gipson DS, Brown E, Kretzler M, Appel G, Sambandam KK, Tuttle KR, Chen D, Atkinson MA, Hogan MC, Kaskel FJ, Meyers KE, O'Toole J, Srivastava T, Sethna CB, Hladunewich MA, Lin JJ, Nast CC, Derebail VK, Patel J, Vento S, Holzman LB, Athavale AM, Adler SG, Lemley KV, Lieske JC, Hogan JJ, Gadegbeku CA, Fervenza FC, Wang CS, Matar RB, Singer P, Kopp JB, Barisoni L, Sampson MG. APOL1 genotype-associated morphologic changes among patients with focal segmental glomerulosclerosis. Pediatr Nephrol. 2021 Sep;36(9):2747-57. doi: 10.1007/s00467-021-04990-4. Epub 2021 Mar 1. PMID: 33646395; PMCID: PMC8524347.
Maksimowski NA, Scholey JW, Williams VR, Nephrotic Syndrome Study Network (NEPTUNE). Sex and kidney ACE2 expression in primary focal segmental glomerulosclerosis (FSGS): A NEPTUNE study. PLoS ONE. 2021 Jun 7;16(6):e0252758. doi: 10.1371/journal.pone.0252758. eCollection 2021.
Waller AP, Troost JP, Parikh SV, Wolfgang KJ, Rovin BH, Nieman MT, Smoyer WE, Kretzler M, Kerlin BA; NEPTUNE Investigators. Nephrotic syndrome disease activity is proportional to its associated hypercoagulopathy. Thromb Res. 2021 May;201:50-59. doi: 10.1016/j.thromres.2021.02.007. Epub 2021 Feb 16. PMID: 33636573; PMCID: PMC8096658.
Lane BM, Murray S, Benson K, Bierzynska A, Chryst-Stangl M, Wang L, Wu G, Cavalleri G, Doyle B, Fennelly N, Dorman A, Conlon S, Vega-Warner V, Fermin D, Vijayan P, Qureshi MA, Shril S, Barua M, Hildebrandt F, Pollak M, Howell D, Sampson MG, Saleem M, Conlon PJ, Spurney R, Gbadegesin R. A rare autosomal dominant variant in Regulator of Calcineurin Type 1 (RCAN1) gene confers enhanced calcineurin activity and may cause FSGS. J Am Soc Nephrol. 2021 Apr 16;32(7):1682–95. doi: 10.1681/ASN.2020081234. Epub ahead of print. PMID: 33863784; PMCID: PMC8425665.
Miyata KN, Lo CS, Zhao S, Liao MC, Pang Y, Chang SY, Peng J, Kretzler M, Filep JG, Ingelfinger JR, Zhang SL, Chan JSD. Angiotensin II up-regulates sodium-glucose co-transporter 2 expression and SGLT2 inhibitor attenuates Ang II-induced hypertensive renal injury in mice. Clin Sci (Lond). 2021;135:943-61. doi: 10.1042/CS20210094. PMID: 33822013; PMCID: PMC8131957.
Shah PP, Brady TM, Meyers KEC, O'Shaughnessy MM, Gibson KL, Srivastava T, Zee J, Cattran D, Tuttle KR, Gadegbeku C, Glenn D, Derebail V, Smith A, Wang CS, Gillespie BW, Bitzer M, Sethna CB. Association of Obesity with Cardiovascular Risk Factors and Kidney Disease Outcomes in Primary Proteinuric Glomerulopathies. Nephron. 2021;145:245-55. doi: 10.1159/000513869. PMID: 33677435; PMCID: PMC8102330.
Jayapandian CP, Chen Y, Janowczyk AR, Palmer MB, Cassol CA, Sekulic M, Hodgin JB, Zee J, Hewitt SM, O'Toole J, Toro P, Sedor JR, Barisoni L, Madabhushi A, Nephrotic Syndrome Study Network (NEPTUNE). Development and evaluation of deep learning-based segmentation of histologic structures in the kidney cortex with multiple histologic stains. Kidney Int. 2021;99:86-101. doi: 10.1016/j.kint.2020.07.044. PMID: 32835732; PMCID: PMC8414393.
Wu Q, Troost JP, Dai T, Nast C, Eddy S, Wei B, Wang Y, Gipson DS, Dell KM, Gipson KL, Kretzler M, Adler S. Kidney Injury Molecule-1 Urinary Excretion and Tissue Expression Levels and the Prediction of Glomerular Disease Outcomes. Glomerular Dis. 2021;1:45-59. doi: 10.1159/000513166. PMID: 34337593; PMCID: PMC8323791.
Zhao L, Murray S, Mariani LH, Ju W. Incorporating longitudinal biomarkers for dynamic risk prediction in the era of big data: A pseudo-observation approach. Stat Med. 2020 Nov 20;39(26):3685-3699. doi: 10.1002/sim.8687. Epub 2020 Jul 27.
Barisoni L, Lafata KJ, Hewitt SM, Madabhushi A, Balis UGJ. Digital pathology and computational image analysis in nephropathology. Nat Rev Nephrol. 2020 Nov;16(11):669-685. doi: 10.1038/s41581-020-0321-6. Epub 2020 Aug 26.
Tao J, Mariani L, Eddy S, Maecker H, Kambham N, Mehta K, Hartman J, Wang W, Kretzler M, Lafayette RA. JAK-STAT Activity in Peripheral Blood Cells and Kidney Tissue in IgA Nephropathy. Clin J Am Soc Nephrol. 2020 Jul 1;15(7):973-982. doi: 10.2215/CJN.11010919. Epub 2020 Apr 30. PMID: 32354727; PMCID: PMC7341773.
Derebail VK, Rheault MN, Kerlin BA. Role of direct oral anticoagulants in patients with kidney disease. Kidney Int. 2020 Apr;97(4):664-675. doi: 10.1016/j.kint.2019.11.027. Epub 2019 Dec 24. PMID: 32107019; PMCID: PMC7093256.
Chen Y, Zee J, Smith A, Jayapandian C, Hodgin J, Howell D, Palmer M, Thomas D, Cassol C, Farris AB 3rd, Perkinson K, Madabhushi A, Barisoni L, Janowczyk A. Assessment of a computerized quantitative quality control tool for kidney whole slide image biopsies. J Pathol. 2020;253:268-78. doi: 10.1002/path.5590. PMID: 33197281; PMCID: PMC8392148.
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Levy C, Naik H, Overbey J, Hedstrom K, Wang K, McDonough C, Freeman M, Keel SB, Erwin AL, Dickey AK, Leaf RK, Quigley J, Mazepa M, Wang B, Phillips J, Parker C, McGuire B, Kazamel M, Bonkovsky H, Rudnick S, Anderson KE, Moghe A, Thapar M, Saberi B, Wheeden K, Desnick R, Balwani M; Porphyrias Consortium of the Rare Diseases Clinical Research Network. Liver involvement in a large cohort of patients with erythropoietic protoporphyria or X-linked protoporphyria. Hepatol Commun. 2025 Feb 19;9(3):e0657. doi: 10.1097/HC9.0000000000000657. PMID: 39969427; PMCID: PMC11841850.
Dickey AK, Leaf RK. Givosiran: a targeted treatment for acute intermittent porphyria. Hematology Am Soc Hematol Educ Program. 2024 Dec 6;2024(1):426-433. doi: 10.1182/hematology.2024000663.
Leaf RK, Dickey AK. Porphyria cutanea tarda: a unique iron-related disorder. Hematology Am Soc Hematol Educ Program. 2024 Dec 6;2024(1):450-456. doi: 10.1182/hematology.2024000664.
Belot A, Puy H, Hamza I, Bonkovsky HL. Update on heme biosynthesis, tissue-specific regulation, heme transport, relation to iron metabolism and cellular energy. Liver Int. 2024 Sep;44(9):2235-2250. doi: 10.1111/liv.15965. Epub 2024 Jun 18.
Leaf RK, Naik H, Jiang PY, Elmariah SB, Hodges P, Mead J, Trinidad J, Saberi B, Tran B, Valiante S, Mernick F, Leaf DE, Anderson KE, Dickey AK. Afamelanotide for Treatment of the Protoporphyrias: Impact on Quality of Life and Laboratory Parameters in a US Cohort. Life (Basel). 2024 May 28;14(6):689. doi: 10.3390/life14060689.
Balwani M, Keel S, Meissner P, Sonderup M, Stein P, Yasuda M. Case-based discussion of the acute hepatic porphyrias: Updates on pathogenesis, diagnosis and management. Liver Int. 2024 Apr 15. doi: 10.1111/liv.15924. Online ahead of print.
Dickey AK, Berkovich J, Leaf RK, Jiang PY, Lopez-Galmiche G, Rebeiz L, Wheeden K, Kochevar I, Savage W, Zhao S, Campisi E, Heo SY, Trueb J, LaRochelle EPM, Rogers J, Banks A, Chang JK. Observational pilot study of multi-wavelength wearable light dosimetry for erythropoietic protoporphyria. Int J Dermatol. 2024 Nov;63(11):1584-1591. doi: 10.1111/ijd.17166. Epub 2024 Apr 11. PMID: 38602089; PMCID: PMC11467130.
Erythropoietic protoporphyria (EPP) is a metabolic disorder characterized by the buildup of protoporphyrin, which is a light-sensitive substance. Individuals with EPP often experience severe pain from light exposure.
In this study, researchers developed a wearable light dosimeter both to improve quality of life in patients with EPP and to capture light exposure data for future EPP clinical trials. The dosimeters work by continuously capturing light doses of UVA, blue, and red wavelengths. The team tested the devices among five individuals with EPP, each wearing two light dosimeters—one as a watch, and one as a shirt clip—for three weeks.
Results show that wearable blue light dosimetry worn as a wristband is a promising method for measuring light exposure, as well as predicting and preventing symptoms in EPP.
Yasuda M, Lee S, Gan L, Bergonia HA, Desnick RJ, Phillips JD. Cimetidine Does Not Inhibit 5-Aminolevulinic Acid Synthase or Heme Oxygenase Activity: Implications for Treatment of Acute Intermittent Porphyria and Erythropoietic Protoporphyria. Biomolecules. 2023 Dec 24;14(1):27. doi: 10.3390/biom14010027.
Yasuda M, Keel S, Balwani M. RNA interference therapy in acute hepatic porphyrias. Blood. 2023 Nov 9;142(19):1589-1599. doi: 10.1182/blood.2022018662.
Levy C, Dickey AK, Wang B, Thapar M, Naik H, Keel SB, Saberi B, Beaven SW, Rudnick SR, Elmariah SB, Erwin AL, Goddu RJ, Hedstrom K, Leaf RK, Kazamel M, Mazepa M, Philpotts LL, Quigley J, Raef H, Ungar J, Anderson KE, Balwani M; Porphyrias Consortium of the Rare Diseases Clinical Network. Evidence based consensus guidelines for diagnosis and management of Protoporphyria-Related liver dysfunction in erythropoietic protoporphyria and X-Linked protoporphyria. Hepatology. 2023 Jul 27. doi: 10.1097/HEP.0000000000000546. Epub ahead of print. PMID: 37505211
Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are inherited, metabolic disorders characterized by the buildup of protoporphyrins (substances that bind metals to form complexes, such as the iron found in red blood cells). In addition to phototoxicity (severe pain during light exposure), patients with EPP and XLP often experience liver dysfunction. However, there is a lack of published information on the management of liver disease in these patients.
In this study, researchers established evidence-based guidelines for the diagnosis and management of liver disease in protoporphyrias. A group of 15 clinicians from the Porphyrias Consortium—with expertise in porphyrias and hepatology, hematology, and genetics—conducted a systematic literature review to develop new recommendations.
The resulting guidelines address important clinical topics in protoporphyrias and liver disease, including interventions and therapies based on severity. Authors note that these guidelines may not only improve patient care, but also inspire new collaborative research.
Leaf RK, Dickey AK. How I treat erythropoietic protoporphyria and X-linked protoporphyria. Blood. 2023 Jun 15;141(24):2921-2931. doi: 10.1182/blood.2022018688.
Applequist J, Burroughs C, Merkel PA, Rothenberg M, Trapnell B, Desnick R, Sahin M, Krischer J. Direct-to-Consumer Recruitment Methods via Traditional and Social Media to Aid in Research Accrual for Clinical Trials for Rare Diseases: Comparative Analysis Study. J Med Internet Res. 2023 Mar 14;25:e39262. doi: 10.2196/39262.
Wang B, Bonkovsky HL, Lim JK, Balwani M. AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review. Gastroenterology. 2023 Mar;164(3):484-491. doi: 10.1053/j.gastro.2022.11.034. Epub 2023 Jan 13. PMID: 36642627.
Bonkovsky HL, Rudnick SP, Ma CD, Overbey JR, Wang K, Faust D, Hallberg C, Hedstrom K, Naik H, Moghe A, Anderson KE. Ledipasvir/Sofosbuvir Is Effective as Sole Treatment of Porphyria Cutanea Tarda with Chronic Hepatitis C. Dig Dis Sci. 2023 Feb 22:1–9. doi: 10.1007/s10620-023-07859-8. Epub ahead of print. PMID: 36811718; PMCID: PMC9945827.
Kazamel M, Pischik E, Desnick RJ. Pain in acute hepatic porphyrias: Updates on pathophysiology and management. Front Neurol. 2022 Nov 21;13:1004125. doi: 10.3389/fneur.2022.1004125. PMID: 36479055; PMCID: PMC9719963.
Balwani M, Naik H, Overbey JR, Bonkovsky HL, Bissell DM, Wang B, Phillips JD, Desnick RJ, Anderson KE. A pilot study of oral iron therapy in erythropoietic protoporphyria and X-linked protoporphyria. Mol Genet Metab Rep. 2022 Nov 14;33:100939. doi: 10.1016/j.ymgmr.2022.100939. PMID: 36406817; PMCID: PMC9672425.
Ma CD, Bonkovsky HL. Elagolix is porphyrogenic and may induce porphyric attacks in patients with the acute hepatic porphyrias. Mol Genet Metab Rep. 2022 Sep 7;33:100915. doi: 10.1016/j.ymgmr.2022.100915. PMID: 36105850; PMCID: PMC9465260.
Ma CD, Bonkovsky HL. Eslicarbazepine acetate is porphyrogenic and should be used with caution in patients with the acute hepatic porphyrias. Front Pharmacol. 2022 Sep 6;13:953961. doi: 10.3389/fphar.2022.953961. PMID: 36147354; PMCID: PMC9485715.
Dickey AK, Naik H, Keel SB, Levy C, Beaven SW, Elmariah SB, Erwin AL, Goddu RJ, Hedstrom K, Leaf RK, Kazamel M, Mazepa M, Philpotts LL, Quigley J, Raef H, Rudnick SR, Saberi B, Thapar M, Ungar J, Wang B, Balwani M; Porphyrias Consortium of the Rare Diseases Clinical Research Network. Evidence-based consensus guidelines for the diagnosis and management of erythropoietic protoporphyria and X-linked protoporphyria. J Am Acad Dermatol. 2022 Aug 27:S0190-9622(22)02611-1. doi: 10.1016/j.jaad.2022.08.036. Epub ahead of print. PMID: 36041558.
Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare, inherited, metabolic disorders characterized by build-up of porphyrins. Porphyrins are substances that bind metals to form complexes, such as the iron found in red blood cells. The hallmark symptoms include phototoxicity (severe pain during light exposure) and photosensitivity (skin hyperreactivity to light). Due to the rarity of EPP and XLP, physicians often have limited expertise with these disorders, which can lead to delays in diagnosis. In this study, researchers developed evidence-based consensus guidelines for the diagnosis, monitoring, and management of EPP and XLP. First, the team conducted a systematic literature review. Next, they divided topics among subcommittees of experts to reach a consensus on guidelines. The new guidelines discuss biochemical and genetic testing for diagnosis, prevention of symptoms, management of acute phototoxicity, and pharmacologic (drug or medication) and non-pharmacologic treatment options. Researchers also discuss management, including the importance of ongoing monitoring, guidance on pregnancy and surgery, and the safety of other therapies. Authors note that these guidelines can aid in early diagnosis and management of these disorders.
Ma CD, Van Horn CG, Wan M, Bishop C, Bonkovsky HL. Assessment of porphyrogenicity of drugs and chemicals in selected hepatic cell culture models through a fluorescence-based screening assay. Pharmacol Res Perspect. 2022 Jun;10(3):e00951. doi: 10.1002/prp2.951. PMID: 35445802; PMCID: PMC9022196.
Farrell CP, Nicolas G, Desnick RJ, Parker CJ, Lamoril J, Gouya L, Karim Z, Tchernitchko D, Chan B, Puy H, Phillips JD. ABCB6 polymorphisms are not overly represented in patients with porphyria. Blood Adv.. 2022 Feb 8;6(3):760-766. doi: 10.1182/bloodadvances.2021005484. PMID: 34724702; PMCID: PMC8945301.
Erwin AL, Balwani M. Porphyrias in the Age of Targeted Therapies. Diagnostics (Basel). 2021 Sep 29;11(10):1795. doi: 10.3390/diagnostics11101795.
Rondelli CM, Perfetto M, Danoff A, Bergonia H, Gillis S, O'Neill L, Jackson L, Nicolas G, Puy H, West R, Phillips JD, Yien YY. The ubiquitous mitochondrial protein unfoldase CLPX regulates erythroid heme synthesis by control of iron utilization and heme synthesis enzyme activation and turnover. J Biol Chem. 2021 Aug;297(2):100972. doi: 10.1016/j.jbc.2021.100972. Epub 2021 Jul 16.
Wang B. Novel treatment options for acute hepatic porphyrias. Curr Opin Gastroenterol. 2021 May 1;37(3):194-199. doi: 10.1097/MOG.0000000000000734.
Wang B. The acute hepatic porphyrias. Transl Gastroenterol Hepatol. 2021 Apr 5;6:24. doi: 10.21037/tgh-2020-01. eCollection 2021.
Dickey AK, Quick C, Ducamp S, Zhu Z, Feng YA, Naik H, Balwani M, Anderson KE, Lin X, Phillips JE, Rebeiz L, Bonkovsky HL, McGuire BM, Wang B, Chasman DI, Smoller JW, Fleming MD, Christiani DC. Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria. Genet Med. 2021 Jan;23(1):140-148. doi: 10.1038/s41436-020-00951-8. Epub 2020 Sep 2.
Lahiji AP, Anderson KE, Chan A, Simon A, Desnick RJ, Ramanujam VMS. 5-Aminolevulinate dehydratase porphyria: Update on hepatic 5-aminolevulinic acid synthase induction and long-term response to hemin. Mol Genet Metab. 2020 Dec;131(4):418-423. doi: 10.1016/j.ymgme.2020.10.011. Epub 2020 Oct 26.
Rudnick S, Bonkovsky HL. Editorial: hepatitis C and porphyria cutanea tarda in 2020. Aliment Pharmacol Ther. 2020 Jun;51(12):1432-1434. doi: 10.1111/apt.15728.
Gouya L, Ventura P, Balwani M, Bissell DM, Rees DC, Stölzel U, Phillips JD, Kauppinen R, Langendonk JG, Desnick RJ, Deybach JC, Bonkovsky HL, Parker C, Naik H, Badminton M, Stein PE, Minder E, Windyga J, Bruha R, Cappellini MD, Sardh E, Harper P, Sandberg S, Aarsand AK, Andersen J, Alegre F, Ivanova A, Talbi N, Chan A, Querbes W, Ko J, Penz C, Liu S, Lin T, Simon A, Anderson KE. EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks. Hepatology. 2020 May;71(5):1546-1558. doi: 10.1002/hep.30936. Epub 2019 Nov 7.
Saberi B, Naik H, Overbey JR, Erwin AL, Anderson KE, Bissell DM, Bonkovsky HL, Phillips JD, Wang B, K Singal A, M McGuire B, Desnick RJ, Balwani M. Hepatocellular Carcinoma in Acute Hepatic Porphyrias: Results from the Longitudinal Study of the U.S. Porphyrias Consortium. Hepatology. 2021 May;73(5):1736-1746. doi: 10.1002/hep.31460. Epub 2020 Dec 11. PMID: 32681675.
Applequist J, Burroughs C, Ramirez A Jr, Merkel PA, Rothenberg ME, Trapnell B, Desnick RJ, Sahin M, Krischer JP. A novel approach to conducting clinical trials in the community setting: utilizing patient-driven platforms and social media to drive web-based patient recruitment. BMC Med Res Methodol. 2020 Mar 13;20(1):58. doi: 10.1186/s12874-020-00926-y.
Naik H, Overbey JR, Montgomery GH, Winkel G, Balwani M, Anderson KE, Bissell DM, Bonkovsky HL, Phillips JD, Wang B, McGuire B, Keel S, Levy C, Erwin A, Desnick RJ. Evaluating the Patient-Reported Outcomes Measurement Information System scales in acute intermittent porphyria. Genet Med. 2020 Mar;22(3):590-597. doi: 10.1038/s41436-019-0683-y. Epub 2019 Nov 6.
Anderson KE. Acute hepatic porphyrias: Current diagnosis & management. Mol Genet Metab. 2019 Nov;128(3):219-227. doi: 10.1016/j.ymgme.2019.07.002. Epub 2019 Jul 5.
Chen B, Wang M, Gan L, Zhang B, Desnick RJ, Yasuda M. Characterization of the hepatic transcriptome following phenobarbital induction in mice with AIP. Mol Genet Metab. 2019 Nov;128(3):382-390. doi: 10.1016/j.ymgme.2018.12.010. Epub 2019 Jan 6.
Erwin AL, Desnick RJ. Congenital erythropoietic porphyria: Recent advances. Mol Genet Metab. 2019 Nov;128(3):288-297. doi: 10.1016/j.ymgme.2018.12.008. Epub 2018 Dec 27.
Balwani M. Erythropoietic Protoporphyria and X-Linked Protoporphyria: pathophysiology, genetics, clinical manifestations, and management. Mol Genet Metab. 2019 Nov;128(3):298-303. doi: 10.1016/j.ymgme.2019.01.020. Epub 2019 Jan 24.
Phillips JD. Heme biosynthesis and the porphyrias. Mol Genet Metab. 2019 Nov;128(3):164-177. doi: 10.1016/j.ymgme.2019.04.008. Epub 2019 Apr 22.
Chen B, Whatley S, Badminton M, Aarsand AK, Anderson KE, Bissell DM, Bonkovsky HL, Cappellini MD, Floderus Y, Friesema ECH, Gouya L, Harper P, Kauppinen R, Loskove Y, Martásek P, Phillips JD, Puy H, Sandberg S, Schmitt C, To-Figueras J, Weiss Y, Yasuda M, Deybach JC, Desnick RJ. International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias. Genet Med. 2019 Nov;21(11):2605-2613. doi: 10.1038/s41436-019-0537-7. Epub 2019 May 10.
Yasuda M, Desnick RJ. Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies. Mol Genet Metab. 2019 Nov;128(3):332-341. doi: 10.1016/j.ymgme.2019.01.007. Epub 2019 Jan 18.
Bonkovsky HL, Dixon N, Rudnick S. Pathogenesis and clinical features of the acute hepatic porphyrias (AHPs). Mol Genet Metab. 2019 Nov;128(3):213-218. doi: 10.1016/j.ymgme.2019.03.002. Epub 2019 Mar 6.
Dixon N, Li T, Marion B, Faust D, Dozier S, Molina A, Rudnick S, Bonkovsky HL. Pilot study of mitochondrial bioenergetics in subjects with acute porphyrias. Mol Genet Metab. 2019 Nov;128(3):228-235. doi: 10.1016/j.ymgme.2019.05.010. Epub 2019 May 20.
Weiss Y, Chen B, Yasuda M, Nazarenko I, Anderson KE, Desnick RJ. Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations. Mol Genet Metab. 2019 Nov;128(3):363-366. doi: 10.1016/j.ymgme.2018.11.013. Epub 2018 Nov 28.
Naik H, Shenbagam S, Go AM, Balwani M. Psychosocial issues in erythropoietic protoporphyria - the perspective of parents, children, and young adults: A qualitative study. Mol Genet Metab. 2019 Nov;128(3):314-319. doi: 10.1016/j.ymgme.2019.01.023. Epub 2019 Jan 26.
Yasuda M, Chen B, Desnick RJ. Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes. Mol Genet Metab. 2019 Nov;128(3):320-331. doi: 10.1016/j.ymgme.2018.11.012. Epub 2018 Nov 30.
Parker CJ, Desnick RJ, Bissel MD, Bloomer JR, Singal A, Gouya L, Puy H, Anderson KE, Balwani M, Phillips JD. Results of a pilot study of isoniazid in patients with erythropoietic protoporphyria. Mol Genet Metab. 2019 Nov;128(3):309-313. doi: 10.1016/j.ymgme.2019.07.017. Epub 2019 Jul 31.
Pulgar VM, Yasuda M, Gan L, Desnick RJ, Bonkovsky HL. Sex differences in vascular reactivity in mesenteric arteries from a mouse model of acute intermittent porphyria. Mol Genet Metab. 2019 Nov;128(3):376-381. doi: 10.1016/j.ymgme.2019.01.005. Epub 2019 Jan 7.
Phillips J, Farrell C, Wang Y, Singal AK, Anderson K, Balwani M, Bissell M, Bonkovsky H, Seay T, Paw B, Desnick R, Bloomer J. Strong correlation of ferrochelatase enzymatic activity with Mitoferrin-1 mRNA in lymphoblasts of patients with protoporphyria. Mol Genet Metab. 2019 Nov;128(3):391-395. doi: 10.1016/j.ymgme.2018.10.005. Epub 2018 Oct 22.
Yasuda M, Gan L, Chen B, Yu C, Zhang J, Gama-Sosa MA, Pollak DD, Berger S, Phillips JD, Edelmann W, Desnick RJ. Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria. Hum Mol Genet. 2019 Jun 1;28(11):1755-1767. doi: 10.1093/hmg/ddz003.
Moghe A, Ramanujam VMS, Phillips JD, Desnick RJ, Anderson KE. Harderoporphyria: Case of lifelong photosensitivity associated with compound heterozygous coproporphyrinogen oxidase (CPOX) mutations. Mol Genet Metab Rep. 2019 Feb 19;19:100457. doi: 10.1016/j.ymgmr.2019.100457. eCollection 2019 Jun.
Chen B, Solis-Villa C, Erwin AL, Balwani M, Nazarenko I, Phillips JD, Desnick RJ, Yasuda M. Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria. J Inherit Metab Dis. 2019 Jan;42(1):186-194. doi: 10.1002/jimd.12040.
Maitra D, Bragazzi Cunha J, Elenbaas JS, Bonkovsky HL, Shavit JA, Omary MB. Porphyrin-Induced Protein Oxidation and Aggregation as a Mechanism of Porphyria-Associated Cell Injury. Cell Mol Gastroenterol Hepatol. 2019;8(4):535-548. doi: 10.1016/j.jcmgh.2019.06.006. Epub 2019 Jun 21.
Yien YY, Shi J, Chen C, Cheung JTM, Grillo AS, Shrestha R, Li L, Zhang X, Kafina MD, Kingsley PD, King MJ, Ablain J, Li H, Zon LI, Palis J, Burke MD, Bauer DE, Orkin SH, Koehler CM, Phillips JD, Kaplan J, Ward DM, Lodish HF, Paw BH. FAM210B is an erythropoietin target and regulates erythroid heme synthesis by controlling mitochondrial iron import and ferrochelatase activity. J Biol Chem. 2018 Dec 21;293(51):19797-19811. doi: 10.1074/jbc.RA118.002742. Epub 2018 Oct 26.
Wang B, Rudnick S, Cengia B, Bonkovsky HL. Acute Hepatic Porphyrias: Review and Recent Progress. Hepatol Commun. 2018 Dec 20;3(2):193-206. doi: 10.1002/hep4.1297. eCollection 2019 Feb.
Salameh H, Sarairah H, Rizwan M, Kuo YF, Anderson KE, Singal AK. Relapse of porphyria cutanea tarda after treatment with phlebotomy or 4-aminoquinoline antimalarials: a meta-analysis. Br J Dermatol. 2018 Dec;179(6):1351-1357. doi: 10.1111/bjd.16741. Epub 2018 Jul 26.
Lala SM, Naik H, Balwani M. Diagnostic Delay in Erythropoietic Protoporphyria. J Pediatr. 2018 Nov;202:320-323.e2. doi: 10.1016/j.jpeds.2018.06.001. Epub 2018 Jul 2.
Bung N, Roy A, Chen B, Das D, Pradhan M, Yasuda M, New MI, Desnick RJ, Bulusu G. Human hydroxymethylbilane synthase: Molecular dynamics of the pyrrole chain elongation identifies step-specific residues that cause AIP. Proc Natl Acad Sci U S A. 2018 Apr 24;115(17):E4071-E4080. doi: 10.1073/pnas.1719267115. Epub 2018 Apr 9.
Balwani M, Wang B, Anderson KE, Bloomer JR, Bissell DM, Bonkovsky HL, Phillips JD, Desnick RJ; Porphyrias Consortium of the Rare Diseases Clinical Research Network. Acute hepatic porphyrias: Recommendations for evaluation and long-term management. Hepatology. 2017 Oct;66(4):1314-1322. doi: 10.1002/hep.29313. Epub 2017 Sep 4.
Yien YY, Ducamp S, van der Vorm LN, Kardon JR, Manceau H, Kannengiesser C, Bergonia HA, Kafina MD, Karim Z, Gouya L, Baker TA, Puy H, Phillips JD, Nicolas G, Paw BH. Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria. Proc Natl Acad Sci U S A. 2017 Sep 19;114(38):E8045-E8052. doi: 10.1073/pnas.1700632114. Epub 2017 Sep 5.
Balwani M, Naik H, Anderson KE, Bissell DM, Bloomer J, Bonkovsky HL, Phillips JD, Overbey JR, Wang B, Singal AK, Liu LU, Desnick RJ. Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria. JAMA Dermatol. 2017 Aug 1;153(8):789-796. doi: 10.1001/jamadermatol.2017.1557.
Singal AK, Venkata KVR, Jampana S, Islam FU, Anderson KE. Hepatitis C Treatment in Patients With Porphyria Cutanea Tarda. Am J Med Sci. 2017 Jun;353(6):523-528. doi: 10.1016/j.amjms.2017.03.007. Epub 2017 Mar 8.
Lane AM, McKay JT, Bonkovsky HL. Advances in the management of erythropoietic protoporphyria - role of afamelanotide. Appl Clin Genet. 2016 Dec 12;9:179-189. doi: 10.2147/TACG.S122030. eCollection 2016.
Balwani M, Singh P, Seth A, Debnath EM, Naik H, Doheny D, Chen B, Yasuda M, Desnick RJ. Acute Intermittent Porphyria in children: A case report and review of the literature. Mol Genet Metab. 2016 Dec;119(4):295-299. doi: 10.1016/j.ymgme.2016.10.005. Epub 2016 Oct 15.
Chen B, Solis-Villa C, Hakenberg J, Qiao W, Srinivasan RR, Yasuda M, Balwani M, Doheny D, Peter I, Chen R, Desnick RJ. Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease. Hum Mutat. 2016 Nov;37(11):1215-1222. doi: 10.1002/humu.23067. Epub 2016 Sep 5.
Naik H, Stoecker M, Sanderson SC, Balwani M, Desnick RJ. Experiences and concerns of patients with recurrent attacks of acute hepatic porphyria: A qualitative study. Mol Genet Metab. 2016 Nov;119(3):278-283. doi: 10.1016/j.ymgme.2016.08.006. Epub 2016 Aug 24.
Farrell CP, Overbey JR, Naik H, Nance D, McLaren GD, McLaren CE, Zhou L, Desnick RJ, Parker CJ, Phillips JD. The D519G Polymorphism of Glyceronephosphate O-Acyltransferase Is a Risk Factor for Familial Porphyria Cutanea Tarda. PLoS One. 2016 Sep 23;11(9):e0163322. doi: 10.1371/journal.pone.0163322. eCollection 2016.
Piel RB 3rd, Shiferaw MT, Vashisht AA, Marcero JR, Praissman JL, Phillips JD, Wohlschlegel JA, Medlock AE. A Novel Role for Progesterone Receptor Membrane Component 1 (PGRMC1): A Partner and Regulator of Ferrochelatase. Biochemistry. 2016 Sep 20;55(37):5204-17. doi: 10.1021/acs.biochem.6b00756. Epub 2016 Sep 9.
Merkel PA, Manion M, Gopal-Srivastava R, Groft S, Jinnah HA, Robertson D, Krischer JP; Rare Diseases Clinical Research Network. The partnership of patient advocacy groups and clinical investigators in the rare diseases clinical research network. Orphanet J Rare Dis. 2016 May 18;11(1):66. doi: 10.1186/s13023-016-0445-8.
French JB, Bonacini M, Ghabril M, Foureau D, Bonkovsky HL. Hepatotoxicity Associated with the Use of Anti-TNF-α Agents. Drug Saf. 2016 Mar;39(3):199-208. doi: 10.1007/s40264-015-0366-9.
Sachar M, Anderson KE, Ma X. Protoporphyrin IX: the Good, the Bad, and the Ugly. J Pharmacol Exp Ther. 2016 Feb;356(2):267-75. doi: 10.1124/jpet.115.228130. Epub 2015 Nov 20.
Brancaleoni V, Balwani M, Granata F, Graziadei G, Missineo P, Fiorentino V, Fustinoni S, Cappellini MD, Naik H, Desnick RJ, Di Pierro E. X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria. Clin Genet. 2016 Jan;89(1):20-6. doi: 10.1111/cge.12562. Epub 2015 Feb 17.
Gou EW, Balwani M, Bissell DM, Bloomer JR, Bonkovsky HL, Desnick RJ, Naik H, Phillips JD, Singal AK, Wang B, Keel S, Anderson KE. Pitfalls in Erythrocyte Protoporphyrin Measurement for Diagnosis and Monitoring of Protoporphyrias. Clin Chem. 2015 Dec;61(12):1453-6. doi: 10.1373/clinchem.2015.245456. Epub 2015 Oct 19.
Wang G, Bonkovsky HL, de Lemos A, Burczynski FJ. Recent insights into the biological functions of liver fatty acid binding protein 1. J Lipid Res. 2015 Dec;56(12):2238-47. doi: 10.1194/jlr.R056705. Epub 2015 Oct 6.
O'Brien TR, Pfeiffer RM, Paquin A, Lang Kuhs KA, Chen S, Bonkovsky HL, Edlin BR, Howell CD, Kirk GD, Kuniholm MH, Morgan TR, Strickler HD, Thomas DL, Prokunina-Olsson L. Comparison of functional variants in IFNL4 and IFNL3 for association with HCV clearance. J Hepatol. 2015 Nov;63(5):1103-10. doi: 10.1016/j.jhep.2015.06.035. Epub 2015 Jul 15.
Bossi K, Lee J, Schmeltzer P, Holburton E, Groseclose G, Besur S, Hwang S, Bonkovsky HL. Homeostasis of iron and hepcidin in erythropoietic protoporphyria. Eur J Clin Invest. 2015 Oct;45(10):1032-41. doi: 10.1111/eci.12503. Epub 2015 Sep 2.
Medlock AE, Shiferaw MT, Marcero JR, Vashisht AA, Wohlschlegel JA, Phillips JD, Dailey HA. Identification of the Mitochondrial Heme Metabolism Complex. PLoS One. 2015 Aug 19;10(8):e0135896. doi: 10.1371/journal.pone.0135896. eCollection 2015.
Bergonia HA, Franklin MR, Kushner JP, Phillips JD. A method for determining δ-aminolevulinic acid synthase activity in homogenized cells and tissues. Clin Biochem. 2015 Aug;48(12):788-95. doi: 10.1016/j.clinbiochem.2015.04.023. Epub 2015 May 8.
Farrell CP, Parker CJ, Phillips JD. Exome sequencing for molecular characterization of non-HFE hereditary hemochromatosis. Blood Cells Mol Dis. 2015 Aug;55(2):101-3. doi: 10.1016/j.bcmd.2015.04.002. Epub 2015 May 1.
Egan DN, Yang Z, Phillips J, Abkowitz JL. Inducing iron deficiency improves erythropoiesis and photosensitivity in congenital erythropoietic porphyria. Blood. 2015 Jul 9;126(2):257-61. doi: 10.1182/blood-2014-07-584664. Epub 2015 May 13.
Langendonk JG, Balwani M, Anderson KE, et al. Afamelanotide for Erythropoietic Protoporphyria. N Engl J Med. Jul 2 2015;373(1):48-59. PMID: 26132941.
Ramanujam VS, Anderson KE. Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias. Curr Protoc Hum Genet. 2015 Jul 1;86:17.20.1-17.20.26. doi: 10.1002/0471142905.hg1720s86.
Yasuda M, Erwin AL, Liu LU, Balwani M, Chen B, Kadirvel S, Gan L, Fiel MI, Gordon RE, Yu C, Clavero S, Arvelakis A, Naik H, Martin LD, Phillips JD, Anderson KE, Sadagoparamanujam VM, Florman SS, Desnick RJ. Liver Transplantation for Acute Intermittent Porphyria: Biochemical and Pathologic Studies of the Explanted Liver. Mol Med. 2015 Jun 5;21(1):487-95. doi: 10.2119/molmed.2015.00099.
Butler DF, Ginn KF, Daniel JF, Bloomer JR, Kats A, Shreve N, Myers GD. Bone marrow transplant for X-linked protoporphyria with severe hepatic fibrosis. Pediatr Transplant. 2015 Jun;19(4):E106-10. doi: 10.1111/petr.12472. Epub 2015 Apr 9.
Bissell DM, Wang B. Acute Hepatic Porphyria. J Clin Transl Hepatol. 2015 Mar;3(1):17-26. doi: 10.14218/JCTH.2014.00039. Epub 2015 Mar 15.
Bissell DM, Lai JC, Meister RK, Blanc PD. Role of delta-aminolevulinic acid in the symptoms of acute porphyria. Am J Med. 2015 Mar;128(3):313-7. doi: 10.1016/j.amjmed.2014.10.026. Epub 2014 Nov 8.
Dailey HA, Gerdes S, Dailey TA, Burch JS, Phillips JD. Noncanonical coproporphyrin-dependent bacterial heme biosynthesis pathway that does not use protoporphyrin. Proc Natl Acad Sci U S A. 2015 Feb 17;112(7):2210-5. doi: 10.1073/pnas.1416285112. Epub 2015 Feb 2.
Bonkovsky HL, Maddukuri VC, Yazici C, Anderson KE, Bissell DM, Bloomer JR, Phillips JD, Naik H, Peter I, Baillargeon G, Bossi K, Gandolfo L, Light C, Bishop D, Desnick RJ. Acute porphyrias in the USA: features of 108 subjects from porphyrias consortium. Am J Med. 2014 Dec;127(12):1233-41. doi: 10.1016/j.amjmed.2014.06.036. Epub 2014 Jul 10.
Besur S, Hou W, Schmeltzer P, Bonkovsky HL. Clinically important features of porphyrin and heme metabolism and the porphyrias. Metabolites. 2014 Nov 3;4(4):977-1006. doi: 10.3390/metabo4040977.
Yien YY, Robledo RF, Schultz IJ, Takahashi-Makise N, Gwynn B, Bauer DE, Dass A, Yi G, Li L, Hildick-Smith GJ, Cooney JD, Pierce EL, Mohler K, Dailey TA, Miyata N, Kingsley PD, Garone C, Hattangadi SM, Huang H, Chen W, Keenan EM, Shah DI, Schlaeger TM, DiMauro S, Orkin SH, Cantor AB, Palis J, Koehler CM, Lodish HF, Kaplan J, Ward DM, Dailey HA, Phillips JD, Peters LL, Paw BH. TMEM14C is required for erythroid mitochondrial heme metabolism. J Clin Invest. 2014 Oct;124(10):4294-304. doi: 10.1172/JCI76979. Epub 2014 Aug 26.
Singal AK, Parker C, Bowden C, Thapar M, Liu L, McGuire BM. Liver transplantation in the management of porphyria. Hepatology. 2014 Sep;60(3):1082-9. doi: 10.1002/hep.27086. Epub 2014 Jul 29.
Yasuda M, Gan L, Chen B, Kadirvel S, Yu C, Phillips JD, New MI, Liebow A, Fitzgerald K, Querbes W, Desnick RJ. RNAi-mediated silencing of hepatic Alas1 effectively prevents and treats the induced acute attacks in acute intermittent porphyria mice. Proc Natl Acad Sci U S A. 2014 May 27;111(21):7777-82. doi: 10.1073/pnas.1406228111. Epub 2014 May 12.
Liu LU, Phillips J, Bonkovsky H. Hepatoerythropoietic Porphyria. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993. 2013 Oct 31 [updated 2022 Dec 22].
Clavero S, Ahuja Y, Bishop DF, Kwait B, Haskins ME, Giger U, Desnick RJ. Diagnosis of feline acute intermittent porphyria presenting with erythrodontia requires molecular analyses. Vet J. 2013 Dec;198(3):720-2. doi: 10.1016/j.tvjl.2013.10.008. Epub 2013 Oct 10.
Erwin A, Balwani M, Desnick RJ. Congenital Erythropoietic Porphyria. GeneReviews(R). 2013 Sep 12 [updated 2021 Apr 15]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 24027798.
Larion S, Caballes FR, Hwang SI, Lee JG, Rossman WE, Parsons J, Steuerwald N, Li T, Maddukuri V, Groseclose G, Finkielstein CV, Bonkovsky HL. Circadian rhythms in acute intermittent porphyria--a pilot study. Eur J Clin Invest. 2013 Jul;43(7):727-39. doi: 10.1111/eci.12102. Epub 2013 May 8.
Wang B, Bissell D, Lai J, Cimino T, Porphyrias Consortium. A Combined Clinical Index for the Diagnosis of Acute Porphyria. Paper presented at: Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias. Paper presented at: Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias; May 16-18, 2013; Lucerne, Switzerland.
Maddukuri V, Yazici C, Anderson K, et al. Acute intermittent porphyria [AIP] in the United States: features of the first 82 cases enrolled in the longitudinal study of the porphyria consortium [PC]. Paper presented at: Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias. May 16-18, 2013; Lucerne, Switzerland.
Ludtke A, Yasuda M, Gan L, et al. Acute Intermittent Porphyria: Identification of 19 Novel Hydroxymethylbilane Synthase Mutations and Functional Characterization of Four Novel Missense Mutations. Paper presented at: Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias. May 16-18, 2013; Lucerne, Switzerland.
Larion S, Caballes F, Hwang S, et al. Circadian rhythms in acute intermittent porphyria—a pilot study. Paper presented at: Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias. May 16-18, 2013; Lucerne, Switzerland.
Balwani M, Naik H, Peter I, et al. Erythropoietic Protoporphyria and X-Linked Protoporphyria in the United States: Results from the Longitudinal Study of the NIH/RDCRN Porphyrias Consortium. Paper presented at: Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias. May 16-18, 2013; Lucerne, Switzerland.
Naik H, Balwani M, Doheny D, Liu L, Desnick R. Experience with a Pilot Skype Internet Support Group for Symptomatic Patients with Acute Intermittent Porphyria. Paper presented at: Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias. May 16-18, 2013; Lucerne, Switzerland.
Gou E, Singh A, Pierson K, Wilkinson G, Anderson K. Frequency of Porphyria Testing in a National Health Care Database. Paper presented at: Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias. May 16-18, 2013; Lucerne, Switzerland.
Yazici C, Maddukuri V, Anderson K, et al. Hereditary coproporphyria [HCP] and variegate porphyria [VP] in the United States: Initial results from the longitudinal study of the porphyria consortium [PC]. Paper presented at: Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias. May 16-18, 2013; Lucerne, Switzerland.
Singal A, Jampana S, Kormos-Hallberg C, Anderson K. Low-dose hydroxychloroquine to treat or prevent relapse of porphyria cutanea tarda during hepatitis C treatment. Paper presented at: Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias. May 16-18, 2013; Lucerne, Switzerland.
Mittal S, Yasuda M, Desnick R, Anderson K. Metabolic Analysis in Transgenic Mouse Models of Acute Intermittent Porphyria (AIP). Paper presented at: Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias. May 16-18, 2013; Lucerne, Switzerland.
Balwani M, Bishop D, Nazarenko I, et al. Mutation analysis of 155 North American Patients with Erythropoietic Protoporphyria reveals novel Ferrochelatase Mutations and a high prevalence of X-Linked Protoporphyria due to previous and novel 5-Aminolevulinate Synthase 2 mutations. Paper presented at: Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias. May 16-18, 2013; Lucerne, Switzerland.
Phillips J, Warby C, Bergonia H, Marcero J, Parker C, Franklin M. Porphyria studies in Cyp1A2-/- and wild type mice suggest that heme regulation of ALA-synthase transcription and mitochondrial membrane translocation can be separated based on heme supply-and-demand. Paper presented at: Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias. May 16-18, 2013; Lucerne, Switzerland.
Singal A, Gou E, Albuerne M, Kormos-Hallberg C, Anderson K. Relapse of porphyria cutanea tarda after achieving remission with phlebotomy or low dose hydroxychloroquine. Paper presented at: Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias. May 16-18, 2013; Lucerne, Switzerland.
Bishop D, Tchaikovskii V, Nazarenko I, Desnick R. Synthase Gain-of-Function Mutations Causing X-Linked Protoporphyria. Paper presented at: Annual Assembly of the Swiss Society of Clinical Chemistry & International Congress of Porphyrins and Porphyrias. May 16-18, 2013; Lucerne, Switzerland.
Balwani M, Doheny D, Bishop DF, Nazarenko I, Yasuda M, Dailey HA, Anderson KE, Bissell DM, Bloomer J, Bonkovsky HL, Phillips JD, Liu L, Desnick RJ; Porphyrias Consortium of the National Institutes of Health Rare Diseases Clinical Research Network. Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria. Mol Med. 2013 Apr 30;19(1):26-35. doi: 10.2119/molmed.2012.00340.
Bonkovsky HL, Hou W, Steuerwald N, et al. Heme status affects human hepatic messenger RNA and microRNA expression. World J Gastroenterol. Mar 14 2013;19(10):1593-1601. PMID: 23538684, PMCID: PMC3602476.
Bishop DF, Tchaikovskii V, Nazarenko I, Desnick RJ. Molecular expression and characterization of erythroid-specific 5-aminolevulinate synthase gain-of-function mutations causing X-linked protoporphyria. Mol Med. 2013 Mar 5;19(1):18-25. doi: 10.2119/molmed.2013.00003.
Bonkovsky HL. Risk factors for porphyria cutanea tarda -the iron/HFE connection. Liver Int. Jan 2013;33(1):162. PMID: 23121614.
Ludtke A, Yasuda M, Lin G, et al. Acute Intermittent Porphyria: Identification of 23 Novel Hydroxymethylbilane Synthase Mutations and Functional Characterization of Six Novel Missense Mutations. Paper presented at: ACMG Annual Clinical Genetics Meeting, Phoenix, AZ2013.
Mittal S, Anderson KE. Congenital erythropoietic porphyria. In: Rose BD, ed. UpToDate. Waltham, MA: UpToDate . 2013
Ludtke A, Yasuda M, Balwani M, et al. First US Orthotopic Liver Transplant for Intractable Acute Intermittent Porphyria. Paper presented at: The American Society of Human Genetics 63rd Annual Meeting. Boston, MA2013.
Liu LU, Phillips J, Bonkovsky H. Porphyria Cutanea Tarda, Type II. In: Pagon RA, Adam MP, Bird TD, et al., eds. GeneReviews(R). Seattle WA: University of Washington, Seattle. 1993. PMID: 23741761.
Bonkovsky HL, Guo J-T, Hou W, Li T, Narang T, Thapar M. Porphyrin and Heme Metabolism and the Porphyrias. Comprehensive Physiology: John Wiley & Sons, Inc. 2013:365-401.
Gou E, Anderson K. The Porphyrias. In: Hamblin M, Huang Y, eds. Handbook of Photomedicine. Boca Raton, FL: Taylor and Francis. 2013
Anderson KE, Singal AK. Variegate Porphyria. GeneReviews. Seattle WA: University of Washington, Seattle. 1993
Balwani M, Bloomer J, Desnick R. X-Linked Protoporphyria. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, eds. GeneReviews. Seattle WA: University of Washington, Seattle. 1993. PMID: 23409301.
Bissell DM, Wang B, Cimino T, Lai J. Hereditary Coproporphyria. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993. 2012 Dec 13 [updated 2022 May 19].
Singal AK, Kormos-Hallberg C, Lee C, Sadagoparamanujam VM, Grady JJ, Freeman DH Jr, Anderson KE. Low-dose hydroxychloroquine is as effective as phlebotomy in treatment of patients with porphyria cutanea tarda. Clin Gastroenterol Hepatol. 2012 Dec;10(12):1402-9. doi: 10.1016/j.cgh.2012.08.038. Epub 2012 Sep 14.
Balwani M, Desnick RJ. The porphyrias: advances in diagnosis and treatment. Blood. 2012 Nov 29;120(23):4496-504. doi: 10.1182/blood-2012-05-423186. Epub 2012 Jul 12.
Singh A, Pierson K, Wilkinson G, Anderson K. Porphyrias: prevalence and frequency of testing in a national health care database. Paper presented at: Annual Meeting of the American Association for the Study of Liver Disease (AASLD). November 9-13, 2012; Boston, MA.
Ryan Caballes F, Sendi H, Bonkovsky HL. Hepatitis C, porphyria cutanea tarda and liver iron: an update. Liver Int. 2012 Jul;32(6):880-93. doi: 10.1111/j.1478-3231.2012.02794.x. Epub 2012 Apr 17.
Desnick RJ. The Porphyrias: Cardinal Signs and Diagnosis/Treatment. Paper presented at: American College of Medical Genetics Annual Clinical Genetics Meeting. March 31, 2012; Charlotte, NC.
Wang L, He F, Bu J, Zhen Y, Liu X, Du W, Dong J, Cooney JD, Dubey SK, Shi Y, Gong B, Li J, McBride PF, Jia Y, Lu F, Soltis KA, Lin Y, Namburi P, Liang C, Sundaresan P, Paw BH, Li W, Li DY, Phillips JD, Yang Z. ABCB6 mutations cause ocular coloboma. Am J Hum Genet. 2012 Jan 13;90(1):40-8. doi: 10.1016/j.ajhg.2011.11.026. Epub 2012 Jan 5.
Lourenco CM, Lee C, Anderson KE. Disorders of heme biosynthesis In: J-M S, Van den Berghe G, Walter JH, eds. In: J-M S, Van den Berghe G, Walter JH, eds. Inborn Metabolic Diseases: Diagnosis and Treatment. 5th ed. Berlin: Springer- Verlag. 2012:519-532.
Balwani M, Bloomer J, Desnick R. Erythropoietic Protoporphyria, Autosomal Recessive. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993. 2012 Sep 27 [updated 2017 Sep 7].
Phillips JD. Side chain modification during heme biosynthesis. Handbook of Porphyrin Science, Vol 16-In: Kadish KM, Smith KM, Guilard R, eds. Handbook of Porphyrin Science. Vol 16: World Scientific Publishing Company. 2012:283- 337.
Anderson KE. The porphyrias. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine. 24th ed. Philadelphia: Elsevier Saunders. 2012:1363-1371.
Balwani M, Desnick RJ. The porphyrias: advances in diagnosis and treatment. Hematology Am Soc Hematol Educ Program. 2012;2012:19-27. doi: 10.1182/asheducation-2012.1.19.
Phillips JD, Kushner JP, Bergonia HA, Franklin MR. Uroporphyria in the Cyp1a2-/- mouse. Blood Cells Mol Dis. 2011 Dec 15;47(4):249-54. doi: 10.1016/j.bcmd.2011.07.006. Epub 2011 Aug 30.
Hwang SI, Lee YY, Park JO, Norton HJ, Clemens E, Schrum LW, Bonkovsky HL. Effects of a single dose of oral iron on hepcidin concentrations in human urine and serum analyzed by a robust LC-MS/MS method. Clin Chim Acta. 2011 Nov 20;412(23-24):2241-7. doi: 10.1016/j.cca.2011.08.014. Epub 2011 Aug 16.
Dailey HA, Septer AN, Daugherty L, Thames D, Gerdes S, Stabb EV, Dunn AK, Dailey TA, Phillips JD. The Escherichia coli protein YfeX functions as a porphyrinogen oxidase, not a heme dechelatase. mBio. 2011 Nov 8;2(6):e00248-11. doi: 10.1128/mBio.00248-11. Print 2011.
Desnick RJ. Overview of RDCRN and Porphyrias Consortium Activities. Paper presented at: AASLD Annual Meeting. November 6, 2011; San Francisco, CA.
Wang B. PTF Experience from the Trainee Perspective. Paper presented at: AASLD Annual Meeting. November 6, 2011; San Francisco, CA.
Anderson K. The cutaneous porphyrias. Paper presented at: AASLD Annual Meeting. November 6, 2011; San Francisco, CA.
Huang Z, Chen K, Xu T, Zhang J, Li Y, Li W, Agarwal AK, Clark AM, Phillips JD, Pan X. Sampangine inhibits heme biosynthesis in both yeast and human. Eukaryot Cell. 2011 Nov;10(11):1536-44. doi: 10.1128/EC.05170-11. Epub 2011 Sep 9.
Doheny D, Nazarenko I, Balwani M, Liu L, Naik H, Anderson K, Bissell DM, Bloomer JR, Bonkovsky HL, Kushner JP, Phillips J, Bishop D, Desnick RJ. Erythropoietic Protoporphyrias: Frequency of Mutations in the Ferrochelatase Gene Causing Autosomal Recessive Erythropoietic Protoporphyria and Mutations in the 5’-Aminolevulinate Synthase 2 Gene Causing X-Linked Protoporphyria (Abstract #1338T). Paper presented at: 12th International Congress of Human Genetics/61st Annual Meeting of The American Society of Human Genetics. October 14, 2011; Montreal, Canada.
Bishop D, Tchaikovskii V, Nazarenko I, Balwani M, Doheny D, Desnick RJ. Expression and characterization of the ALAS2 carboxy-terminal gain-of-function mutations causing X-linked protoporphyria (Abstract #1157F). Paper presented at: 12th International Congress of Human Genetics/61st Annual Meeting of The American Society of Human Genetics. October 14, 2011; Montreal, Canada.
To-Figueras J, Phillips JD, Gonzalez-López JM, Badenas C, Madrigal I, González-Romarís EM, Ramos C, Aguirre JM, Herrero C. Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene. Br J Dermatol. 2011 Sep;165(3):499-505. doi: 10.1111/j.1365-2133.2011.10453.x. Epub 2011 Aug 18.
Zhang J, Yasuda M, Desnick RJ, Balwani M, Bishop D, Yu C. A LC-MS/MS method for the specific, sensitive, and simultaneous quantification of 5-aminolevulinic acid and porphobilinogen. J Chromatogr B Analyt Technol Biomed Life Sci. 2011 Aug 15;879(24):2389-96. doi: 10.1016/j.jchromb.2011.06.034. Epub 2011 Jul 6.
Tian Q, Li T, Hou W, Zheng J, Schrum LW, Bonkovsky HL. Lon peptidase 1 (LONP1)-dependent breakdown of mitochondrial 5-aminolevulinic acid synthase protein by heme in human liver cells. J Biol Chem. 2011 Jul 29;286(30):26424-30. doi: 10.1074/jbc.M110.215772. Epub 2011 Jun 9.
Wang Y, Langer NB, Shaw GC, Yang G, Li L, Kaplan J, Paw BH, Bloomer JR. Abnormal mitoferrin-1 expression in patients with erythropoietic protoporphyria. Exp Hematol. 2011 Jul;39(7):784-94. doi: 10.1016/j.exphem.2011.05.003. Epub 2011 May 11.
Boynton TO, Gerdes S, Craven SH, Neidle EL, Phillips JD, Dailey HA. Discovery of a gene involved in a third bacterial protoporphyrinogen oxidase activity through comparative genomic analysis and functional complementation. Appl Environ Microbiol. 2011 Jul;77(14):4795-801. doi: 10.1128/AEM.00171-11. Epub 2011 Jun 3.
Balwani M, Grace ME, Desnick RJ. Gaucher disease: when molecular testing and clinical presentation disagree -the novel c.1226A>G(p.N370S)--RecNcil allele. J Inherit Metab Dis. 2011 Jun;34(3):789-93. doi: 10.1007/s10545-011-9307-7. Epub 2011 Mar 23.
Lakner AM, Bonkovsky HL, Schrum LW. microRNAs: fad or future of liver disease. World J Gastroenterol. May 28 2011;17(20):2536-2542. PMCID: PMC3103811.
Troadec MB, Warner D, Wallace J, Thomas K, Spangrude GJ, Phillips J, Khalimonchuk O, Paw BH, Ward DM, Kaplan J. Targeted deletion of the mouse Mitoferrin1 gene: from anemia to protoporphyria. Blood. 2011 May 19;117(20):5494-502. doi: 10.1182/blood-2010-11-319483. Epub 2011 Feb 10.
Lorenzo FRt, Phillips JD, Nussenzveig R, Lingam B, Koul PA, Schrier SL, Prchal JT. Molecular basis of two novel mutations found in type I methemoglobinemia. Blood Cells Mol Dis. Apr 15 2011;46(4):277-281. PMCID: PMC3075332.
Wickliffe JK, Abdel-Rahman SZ, Lee C, Kormos-Hallberg C, Sood G, Rondelli CM, Grady JJ, Desnick RJ, Anderson KE. CYP1A2*1F and GSTM1 alleles are associated with susceptibility to porphyria cutanea tarda. Mol Med. 2011 Mar-Apr;17(3-4):241-7. doi: 10.2119/molmed.2010.00130. Epub 2010 Oct 15. Anderson K. CYP1A2*1F and GSTM1 Alleles Are Associated with Susceptibility to Porphyria Cutanea Tarda. Poster presented at: International Porphyrins & Porphyrias Meeting; April 2011; Cardiff, Wales.
Li T, Bonkovsky HL, Guo JT. Structural analysis of heme proteins: implications for design and prediction. BMC Struct Biol. 2011 Mar 3;11:13. doi: 10.1186/1472-6807-11-13.
Machaczka M, Klimkowska M, Regenthal S, Hägglund H. Gaucher disease with foamy transformed macrophages and erythrophagocytic activity. J Inherit Metab Dis. 2011 Feb;34(1):233-5. doi: 10.1007/s10545-010-9241-0. Epub 2010 Nov 27.
Hasanoglu A, Balwani M, Kasapkara CS, Ezgü FS, Okur I, Tümer L, Cakmak A, Nazarenko I, Yu C, Clavero S, Bishop DF, Desnick RJ. Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R. J Inherit Metab Dis. 2011 Feb;34(1):225-31. doi: 10.1007/s10545-010-9237-9. Epub 2010 Nov 20.
Bishop DF, Clavero S, Mohandas N, Desnick RJ. Congenital erythropoietic porphyria: characterization of murine models of the severe common (C73R/C73R) and later-onset genotypes. Mol Med. 2011;17(7-8):748-56. doi: 10.2119/molmed.2010.00258. Epub 2011 Feb 25.
Mittal S, Anderson KE. Erythropoietic porphyria. In: Rose BD, ed. UpToDate. Waltham, MA: UpToDate. 2011
Tian Q, Hou W, Steuerwald NM, Schrum LW, Bonkovsky HL. Heme markedly up-regulates RNA- binding motif protein 24 gene expression in human hepatocytes. Hepatology-Abstract #895 presented at the Annual Meeting of the American Association for the Study of Liver Diseases. 2011;54(S1):780A.
Tian Q, Hou W, Zheng J, Schrum LW, Bonkovsky HL. LONP1-dependent breakdown of mitochondrial 5-aminolevulinicacid synthase protein by heme in human liver cells. Abstract #904 presented at the Annual Meeting of the American Association for the Study of Liver Diseases. Hepatology. 2011;54(S1):785A.
Hwang SI, Lee YY, Park JO, Norton HJ, Clemens E, Schrum LW, Bonkovsky HL. The measurement of hepcidin from human urine and serum to study effects of a single dose of oral iron by an optimized LC-MS/MS method. Hepatology. 2011;54(S1):931A. Abstract #1204 presented at Annual Meeting of the American Association for the Study of Liver Diseases.
Anderson K, Lee C, Balwani M, Desnick R. The porphyrias. In: Kliegman R, Stanton B, St. Geme J, Schor N, Behrman R, eds. Nelson Textbook of Pediatrics. 19 ed. Philadelphia, PA: Elsevier. 2011
Phillips JD, Anderson K. The Porphyrias. In: Lichtman MA, Kaushansky K, Kipps TJ, Prchal JT, Levi MM, eds. Williams Manual of Hematology. 8th ed: McGraw-Hill Professional. 2011
Hou W, Tian Q, Lu QL, Schrum LW, Bonkovsky HL. Zinc protoporphyrin, a novel endogenous HCV NS3-4A protease inhibitor, displays anti-viral activity. Presidential Poster of Distinction, presented at Annual Meeting of the American Association for the Study of Liver Diseases]. Hepatology. 2011;54(S1):128A-359A.
Clavero S, Bishop DF, Giger U, Haskins ME, Desnick RJ. Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation. Mol Med. 2010 Sep-Oct;16(9-10):381-8. doi: 10.2119/molmed.2010.00038. Epub 2010 May 12.
Gunn GB, Anderson KE, Patel AJ, Gallegos J, Hallberg CK, Sood G, Hatch SS, Sanguineti G. Severe radiation therapy-related soft tissue toxicity in a patient with porphyria cutanea tarda: a literature review. Head Neck. 2010 Aug;32(8):1112-7. doi: 10.1002/hed.21161.
Cantatore-Francis JL, Cohen-Pfeffer J, Balwani M, Kahn P, Lazarus HM, Desnick RJ, Schaffer JV. Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation. Arch Dermatol. 2010 May;146(5):529-33. doi: 10.1001/archdermatol.2010.89.
Hou W, Tian Q, Zheng J, Bonkovsky HL. Zinc mesoporphyrin induces rapid proteasomal degradation of hepatitis C nonstructural 5A protein in human hepatoma cells. Gastroenterology. 2010 May;138(5):1909-19. doi: 10.1053/j.gastro.2009.11.001. Epub 2009 Nov 10.
Jalil S, Grady JJ, Lee C, Anderson KE. Associations among behavior-related susceptibility factors in porphyria cutanea tarda. Clin Gastroenterol Hepatol. Mar 2010;8(3):297-302, 302 e291. PMCID: PMC2834813
Crockett DK, Kushnir MM, Phillips JD, Rockwood AL. Time-of-flight mass spectrometry analysis of the ferroportin-hepcidin binding domain complex for accurate mass confirmation of bioactive hepcidin 25. Clin Chim Acta. 2010 Mar;411(5-6):453-5. doi: 10.1016/j.cca.2009.11.031. Epub 2009 Dec 3.
Clavero S, Bishop DF, Haskins ME, Giger U, Kauppinen R, Desnick RJ. Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations. Hum Mol Genet. 2010 Feb 15;19(4):584-96. doi: 10.1093/hmg/ddp525. Epub 2009 Nov 24.
Bishop DF, Schneider-Yin X, Clavero S, Yoo HW, Minder EI, Desnick RJ. Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts. Blood. 2010 Feb 4;115(5):1062-9. doi: 10.1182/blood-2009-04-218016. Epub 2009 Nov 24.
Yasuda M, Bishop DF, Fowkes M, Cheng SH, Gan L, Desnick RJ. AAV8-mediated gene therapy prevents induced biochemical attacks of acute intermittent porphyria and improves neuromotor function. Mol Ther. 2010 Jan;18(1):17-22. doi: 10.1038/mt.2009.250. Epub 2009 Oct 27.
Sood G, Anderson KE. Acute intermittent porphyria. Acute intermittent porphyria. In: Rose BD, ed. UpToDate. Waltham, MA: UpToDate; . 2010
Sood G, Anderson K. Clinical manifestations and diagnosis of acute intermittent porphyria. In: Rose B, ed. UpToDate. Waltham, MA: UpToDate . 2010
Sood G, Anderson K. Management of acute intermittent porphyria. In: Rose B, ed. UpToDate. Waltham, MA. UpToDate; 2010.
Bloomer JR. Managing acute porphyrias: practice considerations in inpatient and outpatient settings. Medscape Education Gastroenterology. 2010. http://www.medscape.org/viewarticle/730948. Accessed February 28, 2013.
Bloomer JR. Porphyria, ALA-D. Rare Disease Database. 2010; http://www.rarediseases.org/rare-disease- information/rare-diseases/byID/324/viewAbstract. Accessed February 29, 2013.
Anderson KE. Porphyria-an overview. In: Rose BD, ed. UpToDate. Waltham, MA. UpToDate; 2010.
Singal A, Anderson KE. Porphyria cutanea tarda and hepatoerythropoietic porphyria. In: Rose BD, ed. UpToDate. Waltham, MA: UpToDate . 2010
Anderson KE. Porphyria, variegate. Rare Disease Database. 2010; http://www.rarediseases.org/rare-disease- information/rare-diseases/byID/324/viewAbstract. Accessed April 4, 2014.
Phillips JD, Anderson KE. The Porphyrias. In: Kaushansky K, Buetler E, Seligsohn U, Lichtman MA, Kipps TJ, Prchal JT, eds. Williams Hematology. 8th ed. New York: McGraw-Hill Medical. 2010:839-863.
Singal A, Anderson KE. Variegate porphyria. In: Rose BD, ed. UpToDate. Waltham, MA. UpToDate; 2010.
Badenas C, To-Figueras J, Phillips JD, Warby CA, Muñoz C, Herrero C. Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives. Clin Genet. 2009 Apr;75(4):346-53. doi: 10.1111/j.1399-0004.2009.01153.x.
Anderson K, Sood G. Acute intermittent porphyria. Best Practice. London, UK: BMJ Publishing Group. 2008
Sood G, Anderson K. Porphyria Cutanea Tarda. Best Practice. London, UK: BMJ Publishing Group. 2008
Sood G, Anderson K. Porphyrias. In: Crowther M, Ginsberg J, Schunemann H, Meyer R, Lottenberg R, eds. Evidence-Based Hematology. United Kingdom: Blackwell Publishing Ltd. 2008:229-237.
Phillips JD, Kushner JP. The Porphyrias. In: Orkin SH, Nathan DG, Ginsburg D, Look AT, Fisher DE, Lux SE, eds. Nathan and Oski's Hematology of Infancy and Childhood. 7th ed. Philadelphia: Saunders . 2008
Buso H, Adam E, Arkwright PD, Bhattad S, Hamidieh AA, Behfar M, Belot A, Benezech S, Chan AY, Crow YJ, Dvorak CC, Flinn AM, Kapoor U, Lankester A, Kobayashi M, Matsumura R, Mottaghipisheh H, Okada S, Ouachee M, Parvaneh N, Ramprakash S, Satwani P, Sharafian S, Triaille C, Wynn RF, Movahedi N, Ziaee V, Williams E, Slatter M, Gennery AR. Hematopoietic Stem Cell Transplantation for C1q Deficiency: A Study on Behalf of the EBMT Inborn Errors Working Party. J Clin Immunol. 2024 Oct 29;45(1):35. doi: 10.1007/s10875-024-01819-1.
Golloshi K, Mitchell W, Kumar D, Malik S, Parikh S, Aljudi AA, Castellino SM, Chandrakasan S. HLH and Recurrent EBV Lymphoma as the presenting manifestation of MAGT1 Deficiency: A Systematic Review of the Expanding Disease Spectrum. J Clin Immunol. 2024 Jun 19;44(7):153. doi: 10.1007/s10875-024-01749-y.
Hicks ED, Hall G, Hershfield MS, Tarrant TK, Bali P, Sleasman JW, Buckley RH, Mousallem T. Treatment with Elapegademase Restores Immunity in Infants with Adenosine Deaminase Deficient Severe Combined Immunodeficiency. J Clin Immunol. 2024 Apr 27;44(5):107. doi: 10.1007/s10875-024-01710-z.
Pavel-Dinu M, Gardner CL, Nakauchi Y, Kawai T, Delmonte OM, Palterer B, Bosticardo M, Pala F, Viel S, Malech HL, Ghanim HY, Bode NM, Kurgan GL, Detweiler AM, Vakulskas CA, Neff NF, Sheikali A, Menezes ST, Chrobok J, Hernández González EM, Majeti R, Notarangelo LD, Porteus MH. Genetically corrected RAG2-SCID human hematopoietic stem cells restore V(D)J-recombinase and rescue lymphoid deficiency. Blood Adv. 2024 Apr 9;8(7):1820-1833. doi: 10.1182/bloodadvances.2023011766.
Abraham RS, Basu A, Heimall JR, Dunn E, Yip A, Kapadia M, Kapoor N, Satter LF, Buckley R, O'Reilly R, Cuvelier GDE, Chandra S, Bednarski J, Chaudhury S, Moore TB, Haines H, Dávila Saldaña BJ, Chellapandian D, Rayes A, Chen K, Caywood E, Chandrakasan S, Lugt MTV, Ebens C, Teira P, Shereck E, Miller H, Aquino V, Eissa H, Yu LC, Gillio A, Madden L, Knutsen A, Shah AJ, DeSantes K, Barnum J, Broglie L, Joshi AY, Kleiner G, Dara J, Prockop S, Martinez C, Mousallem T, Oved J, Burroughs L, Marsh R, Torgerson TR, Leiding JW, Pai SY, Kohn DB, Pulsipher MA, Griffith LM, Notarangelo LD, Cowan MJ, Puck J, Dvorak CC, Haddad E. Relevance of lymphocyte proliferation to PHA in severe combined immunodeficiency (SCID) and T cell lymphopenia. Clin Immunol. 2024 Apr;261:109942. doi: 10.1016/j.clim.2024.109942. Epub 2024 Feb 15. PMID: 38367737; PMCID: PMC11018339.
Severe combined immunodeficiency (SCID) is a genetic disorder characterized by very low T cell numbers, leading to frequent infections and abnormal (low) function of the immune system. Phytohemagglutinin (PHA), a lectin found in red kidney beans, stimulates T cell growth. Several methods can be used to measure PHA-stimulated T cell growth. However, interpretation of results can vary based on the method used.
In this study, researchers explore how different methods of measuring PHA-stimulated T cell growth affects test results and interpretation in patients with SCID. The team analyzed data collected from 307 participants with SCID for PHA-based T cell growth, using either a radioactive or flow cytometry method.
Results showed a more accurate analysis from the flow cytometry method—especially in patients with severely low T cell numbers—suggesting that the method used to measure PHA growth impacts the interpretation of results. Authors note that this test is not essential for the diagnosis of typical SCID and should only be considered as a supportive test.
Hall G, Donkó Á, Pratt C, Kim-Chang JJ, Martin PL, Stallings AP, Sleasman JW, Holland SM, Hsu AP, Leto TL, Mousallem T. Case Report: Profound newborn leukopenia related to a novel RAC2 variant. Front Pediatr. 2024 Mar 7;12:1365187. doi: 10.3389/fped.2024.1365187. eCollection 2024.
Grunebaum E, Arnold DE, Logan B, Parikh S, Marsh RA, Griffith LM, Mallhi K, Chellapandian D, Lim SS, Deal CL, Kapoor N, Murguía-Favela L, Falcone EL, Prasad VK, Touzot F, Bleesing JJ, Chandrakasan S, Heimall JR, Bednarski JJ, Broglie LA, Chong HJ, Kapadia M, Prockop S, Dávila Saldaña BJ, Schaefer E, Bauchat AL, Teira P, Chandra S, Parta M, Cowan MJ, Dvorak CC, Haddad E, Kohn DB, Notarangelo LD, Pai SY, Puck JM, Pulsipher MA, Torgerson TR, Malech HL, Kang EM, Leiding JW. Allogeneic hematopoietic cell transplantation is effective for p47phox chronic granulomatous disease: A Primary Immune Deficiency Treatment Consortium study. J Allergy Clin Immunol. 2024 Jan 28:S0091-6749(24)00081-2. doi: 10.1016/j.jaci.2024.01.013. Online ahead of print.
Eissa H, Thakar MS, Shah AJ, Logan BR, Griffith LM, Dong H, Parrott RE, O'Reilly RJ, Dara J, Kapoor N, Forbes Satter L, Chandra S, Kapadia M, Chandrakasan S, Knutsen A, Jyonouchi SC, Molinari L, Rayes A, Ebens CL, Teira P, Dávila Saldaña BJ, Burroughs LM, Chaudhury S, Chellapandian D, Gillio AP, Goldman F, Malech HL, DeSantes K, Cuvelier GDE, Rozmus J, Quinones R, Yu LC, Broglie L, Aquino V, Shereck E, Moore TB, Vander Lugt MT, Mousallem TI, Oved JH, Dorsey M, Abdel-Azim H, Martinez C, Bleesing JH, Prockop S, Kohn DB, Bednarski JJ, Leiding J, Marsh RA, Torgerson T, Notarangelo LD, Pai SY, Pulsipher MA, Puck JM, Dvorak CC, Haddad E, Buckley RH, Cowan MJ, Heimall J. Posttransplantation late complications increase over time for patients with SCID: A Primary Immune Deficiency Treatment Consortium (PIDTC) landmark study. J Allergy Clin Immunol. 2024 Jan;153(1):287-296. doi: 10.1016/j.jaci.2023.09.027. Epub 2023 Oct 2.
Leiding JW, Arnold DE, Parikh S, Logan B, Marsh RA, Griffith LM, Wu R, Kidd S, Mallhi K, Chellapandian D, Si Lim SJ, Grunebaum E, Falcone EL, Murguia-Favela L, Grossman D, Prasad VK, Heimall JR, Touzot F, Burroughs LM, Bleesing J, Kapoor N, Dara J, Williams O, Kapadia M, Oshrine BR, Bednarski JJ, Rayes A, Chong H, Cuvelier GDE, Forbes Satter LR, Martinez C, Vander Lugt MT, Yu LC, Chandrakasan S, Joshi A, Prockop SE, Dávila Saldaña BJ, Aquino V, Broglie LA, Ebens CL, Madden LM, DeSantes K, Milner J, Rangarajan HG, Shah AJ, Gillio AP, Knutsen AP, Miller HK, Moore TB, Graham P, Bauchat A, Bunin NJ, Teira P, Petrovic A, Chandra S, Abdel-Azim H, Dorsey MJ, Birbrayer O, Cowan MJ, Dvorak CC, Haddad E, Kohn DB, Notarangelo LD, Pai SY, Puck JM, Pulsipher MA, Torgerson TR, Malech HL, Kang EM. Genotype, oxidase status, and preceding infection or autoinflammation do not affect allogeneic HCT outcomes for CGD. Blood. 2023 Dec 14;142(24):2105-2118. doi: 10.1182/blood.2022019586. PMID: 37562003
Chronic granulomatous disease (CGD) is a type of primary immunodeficiency characterized by life-threatening infections and inflammation. Hematopoietic cell transplantation (HCT) is the definitive treatment for CGD. However, questions remain about patient selection and how active disease impacts transplant outcomes.
In this study, researchers investigated outcomes of allogeneic (donor) HCT in patients with CGD. The team performed an analysis of 391 participants treated either with or without HCT, following outcomes over several years.
Results show that HCT quickly and durably resolves CGD symptoms, lowers the burden of the disease, and has excellent survival rates. Patients with active inflammation or infection are candidates for HCT. To avoid complications from the development of additional medical conditions, authors note that HCT should be considered early in patients with CGD.
Chandrasekaran P, Han Y, Zerbe CS, Heller T, DeRavin SS, Kreuzberg SA, Marciano BE, Siu Y, Jones DR, Abraham RS, Stephens MC, Tsou AM, Snapper S, Conlan S, Subramanian P, Quinones M, Grou C, Calderon V, Deming C, Leiding JW, Arnold DE, Logan BR, Griffith LM, Petrovic A, Mousallem TI, Kapoor N, Heimall JR, Barnum JL, Kapadia M, Wright N, Rayes A, Chandra S, Broglie LA, Chellapandian D, Deal CL, Grunebaum E, Lim SS, Mallhi K, Marsh RA, Murguia-Favela L, Parikh S, Touzot F, Cowan MJ, Dvorak CC, Haddad E, Kohn DB, Notarangelo LD, Pai SY, Puck JM, Pulsipher MA, Torgerson TR, Kang EM, Malech HL, Segre JA, Bryant CE, Holland SM, Falcone EL. Intestinal microbiome and metabolome signatures in patients with chronic granulomatous disease. J Allergy Clin Immunol. 2023 Dec;152(6):1619-1633.e11. doi: 10.1016/j.jaci.2023.07.022. Epub 2023 Sep 1.
Yan KK, Condori J, Ma Z, Metais JY, Ju B, Ding L, Dhungana Y, Palmer LE, Langfitt DM, Ferrara F, Throm R, Shi H, Risch I, Bhatara S, Shaner B, Lockey TD, Talleur AC, Easton J, Meagher MM, Puck JM, Cowan MJ, Zhou S, Mamcarz E, Gottschalk S, Yu J. Integrome signatures of lentiviral gene therapy for SCID-X1 patients. Sci Adv. 2023 Oct 6;9(40):eadg9959. doi: 10.1126/sciadv.adg9959. Epub 2023 Oct 6.
Thakar MS, Logan BR, Puck JM, Dunn EA, Buckley RH, Cowan MJ, O'Reilly RJ, Kapoor N, Satter LF, Pai SY, Heimall J, Chandra S, Ebens CL, Chellapandian D, Williams O, Burroughs LM, Saldana BD, Rayes A, Madden LM, Chandrakasan S, Bednarski JJ 2nd, DeSantes KB, Cuvelier GDE, Teira P, Gillio AP, Eissa H, Knutsen AP, Goldman FD, Aquino VM, Shereck EB, Moore TB, Caywood EH, Lugt MTV, Rozmus J, Broglie L, Yu LC, Shah AJ, Andolina JR, Liu X, Parrott RE, Dara J, Prockop S, Martinez CA, Kapadia M, Jyonouchi SC, Sullivan KE, Bleesing JJ, Chaudhury S, Petrovic A, Keller MD, Quigg TC, Parikh S, Shenoy S, Seroogy C, Rubin T, Decaluwe H, Routes JM, Torgerson TR, Leiding JW, Pulsipher MA, Kohn DB, Griffith LM, Haddad E, Dvorak CC, Notarangelo LD.. Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium. Lancet. 2023 Jul 8;402(10396):129-140. doi: 10.1016/S0140-6736(23)00731-6. Epub 2023 Jun 20. PMID: 37352885
Severe combined immunodeficiency (SCID) is a severe form of primary immune deficiency characterized by extreme weakness or absence of immune system function. SCID is fatal, unless durable adaptive immunity is established—most commonly through allogeneic hematopoietic cell transplantation (HCT).
In this study, researchers from the Primary Immune Deficiency Treatment Consortium (PIDTC) explored factors affecting the survival of individuals with SCID over almost four decades. The team focused on the effects of population-based newborn screening for SCID, analyzing transplantation-related data from children with SCID treated at 34 PIDTC sites.
Results show that population-based newborn screening has helped to identify infants with SCID early in life, increasing the likelihood of prompt HCT prior to the development of serious infections. Authors state that public health programs worldwide can benefit from this demonstration of the value of newborn screening for SCID.
Schuetz C, Gerke J, Ege M, Walter J, Kusters M, Worth A, Kanakry JA, Dimitrova D, Wolska-Kuśnierz B, Chen K, Unal E, Karakukcu M, Pashchenko O, Leiding J, Kawai T, Amrolia PJ, Berghuis D, Buechner J, Buchbinder D, Cowan MJ, Gennery AR, Güngör T, Heimall J, Miano M, Meyts I, Morris EC, Rivière J, Sharapova SO, Shaw PJ, Slatter M, Honig M, Veys P, Fischer A, Cavazzana M, Moshous D, Schulz A, Albert MH, Puck JM, Lankester AC, Notarangelo LD, Neven B. Hypomorphic RAG deficiency: impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCT. Blood. 2023 Feb 16;141(7):713-724. doi: 10.1182/blood.2022017667.
Labrosse R, Boufaied I, Bourdin B, Gona S, Randolph HE, Logan BR, Bourbonnais S, Berthe C, Chan W, Buckley RH, Parrott RE, Cuvelier GDE, Kapoor N, Chandra S, Dávila Saldaña BJ, Eissa H, Goldman FD, Heimall J, O'Reilly R, Chaudhury S, Kolb EA, Shenoy S, Griffith LM, Pulsipher M, Kohn DB, Notarangelo LD, Pai SY, Cowan MJ, Dvorak CC, Haddad É, Puck JM, Barreiro LB, Decaluwe H. Aberrant T-cell exhaustion in severe combined immunodeficiency survivors with poor T-cell reconstitution after transplantation. J Allergy Clin Immunol. 2023 Jan;151(1):260-271. doi: 10.1016/j.jaci.2022.08.004. Epub 2022 Aug 17.
Biggs CM, Cordeiro-Santanach A, Prykhozhij SV, Deveau AP, Lin Y, Del Bel KL, Orben F, Ragotte RJ, Saferali A, Mostafavi S, Dinh L, Dai D, Weinacht KG, Dobbs K, Ott de Bruin L, Sharma M, Tsai K, Priatel JJ, Schreiber RA, Rozmus J, Hosking MC, Shopsowitz KE, McKinnon ML, Vercauteren S, Seear M, Notarangelo LD, Lynn FC, Berman JN, Turvey SE. Human JAK1 gain of function causes dysregulated myelopoeisis and severe allergic inflammation. JCI Insight. 2022 Dec 22;7(24):e150849. doi: 10.1172/jci.insight.150849. PMID: 36546480; PMCID: PMC9869972.
Primary atopic disorders are a group of rare inherited conditions that cause severe allergic disease. Each of these disorders is monogenic—controlled by a single gene—and causes its own unique condition. Studying primary atopic disorders teaches us about the genes and biology underlying allergic disease. We can then apply these lessons learned to identify better treatments for both primary atopic disorders and common allergic conditions.
In this study, researchers explored a germline gain-of-function variant in the JAK1 gene, which is a cause of severe atopy (the genetic predisposition to developing allergic diseases) and eosinophilia (an unusually high number of a type of white blood cell called eosinophils). To investigate how enhanced JAK1 signaling promotes allergic inflammation, the team performed RNA sequencing of human whole blood, induced pluripotent stem cells, and zebrafish carrying the JAK1 gain-of-function variant.
Results reveal that the JAK1 gain-of-function variant causes dysregulated myelopoiesis (production of blood cells in bone marrow) and severe allergic inflammation. For two pediatric patients carrying the variant, researchers found that long-term treatment with the drug ruxolitinib remarkably improved their growth, eosinophilia, and clinical features of allergic inflammation. Authors note that this study highlights the role of JAK1 signaling in atopic immune dysregulation, as well as the clinical impact of medications inhibiting JAK1 and JAK2 in treating eosinophilic and allergic disease.
Cowan MJ, Yu J, Facchino J, Fraser-Browne C, Sanford U, Kawahara M, Dara J, Long-Boyle J, Oh J, Chan W, Chag S, Broderick L, Chellapandian D, Decaluwe H, Golski C, Hu D, Kuo CY, Miller HK, Petrovic A, Currier R, Hilton JF, Punwani D, Dvorak CC, Malech HL, McIvor RS, Puck JM. Lentiviral Gene Therapy for Artemis-Deficient SCID. N Engl J Med. 2022 Dec 22;387(25):2344-2355. doi: 10.1056/NEJMoa2206575. PMID: 36546626.
Dvorak CC, Haddad E, Heimall J, Dunn E, Cowan MJ, Pai SY, Kapoor N, Satter LF, Buckley RH, O'Reilly RJ, Chandra S, Bednarski JJ, Williams O, Rayes A, Moore TB, Ebens CL, Davila Saldana BJ, Petrovic A, Chellapandian D, Cuvelier GDE, Vander Lugt MT, Caywood EH, Chandrakasan S, Eissa H, Goldman FD, Shereck E, Aquino VM, Desantes KB, Madden LM, Miller HK, Yu L, Broglie L, Gillio A, Shah AJ, Knutsen AP, Andolina JP, Joshi AY, Szabolcs P, Kapadia M, Martinez CA, Parrot RE, Sullivan KE, Prockop SE, Abraham RS, Thakar MS, Leiding JW, Kohn DB, Pulsipher MA, Griffith LM, Notarangelo LD, Puck JM. The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions. J Allergy Clin Immunol. 2022 Nov 28:S0091-6749(22)01478-6. doi: 10.1016/j.jaci.2022.10.021. Epub ahead of print. PMID: 36456360.
In 2014, the Primary Immune Deficiency Treatment Consortium (PIDTC) published criteria developed for the diagnosis and classification of severe combined immunodeficiency (SCID) patients enrolling in their protocols. Since then, newborn screening for SCID has become increasingly common, as well as more rapid and less costly genetic sequencing. In light of these advances, the PIDTC updated their definitions in 2022. In this study, researchers compared the performance of the original versus the updated definitions. The team analyzed 379 patients who were proposed for enrollment in a PIDTC prospective protocol that follows SCID patients longitudinally, focusing on the ability to distinguish patients with various subtypes of SCID. Results showed that the 2022 definitions described SCID and its subtypes more precisely than the 2014 definitions. Authors state that these updates can facilitate improved analyses of SCID characteristics and outcomes.
Dvorak CC, Haddad E, Heimall J, Dunn E, Buckley RH, Kohn DB, Cowan MJ, Pai SY, Griffith LM, Cuvelier GDE, Eissa H, Shah AJ, O'Reilly RJ, Pulsipher MA, Wright NAM, Abraham RS, Satter LF, Notarangelo LD, Puck JM. The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions. J Allergy Clin Immunol. 2022 Nov 28:S0091-6749(22)01479-8. doi: 10.1016/j.jaci.2022.10.022. Epub ahead of print. PMID: 36456361.
Puck JM. A Spot of Good News: Israeli Experience With SCID Newborn Screening. J Allergy Clin Immunol Pract. 2022 Oct;10(10):2732-2733. doi: 10.1016/j.jaip.2022.08.014.
Arnold DE, Chellapandian D, Parikh S, Mallhi K, Marsh RA, Heimall JR, Grossman D, Chitty-Lopez M, Murguia-Favela L, Gennery AR, Boulad F, Arbuckle E, Cowan MJ, Dvorak CC, Griffith LM, Haddad E, Kohn DB, Notarangelo LD, Pai SY, Puck JM, Pulsipher MA, Torgerson T, Kang EM, Malech HL, Leiding JW. Granulocyte Transfusions in Patients with Chronic Granulomatous Disease Undergoing Hematopoietic Cell Transplantation or Gene Therapy. J Clin Immunol. 2022 Jul;42(5):1026-1035. doi: 10.1007/s10875-022-01261-1. Epub 2022 Apr 21. PMID: 35445907; PMCID: PMC9022412.
Chandrakasan S, Chandra S, Prince C, Kobrynski LJ, Lucas L, Patel K, Walter J, Buckley RH, Meisel R, Ghosh S, Parikh SH. HSCT using carrier donors for CD40L deficiency results in excellent immune function and higher CD40L expression in cTfh. Blood Adv. 2022 Jun 28;6(12):3751-3755. doi: 10.1182/bloodadvances.2021006905. PMID: 35443026.
PIDTC: HSCT using carrier donors for CD40L deficiency results in excellent immune function and higher CD40L expression in cTfh CD40 ligand (CD40L) deficiency is a rare X-linked immunodeficiency disorder that leads to recurrent bacterial infections. Not much is known about the immune status of CD40L-deficient carriers, or possible outcomes of hematopoietic stem cell transplantation (HSCT) using these carriers as donors for CD40L-deficient patients. In this study, researchers evaluated the immune profiles of 7 carriers—including 4 who acted as HSCT donors for family members with CD40L deficiency—and characterized their HSCT outcomes. Results show that most carriers with CD40L deficiency have a normal immune profile with differential high CD40L expression in circulating T follicular helper (cTfh) cells, which are critical for immune response. The team also reported excellent long-term immune reconstitution in CD40L-deficient patients after HSCT using carrier donors. Authors state that HSCT using X-linked carriers seems to be safe and results in excellent outcomes. Authors also note that this decision should be individualized and driven by the biology of the disease. Note: First author Shanmuganathan Chandrakasan, MD, received the 2017 PIDTC Fellowship Award.
Cuvelier GDE, Logan BR, Prockop S, Buckley RH, Kuo CY, Griffith LM, Liu X, Yip A, Hershfield M, Ayoub P, Moore TB, Dorsey M, O'Reilly RJ, Kapoor N, Pai SY, Kapadia M, Ebens CL, Forbes Satter LR, Burroughs L, Petrovic A, Chellapandian D, Heimall J, Shyr D, Rayes A, Bednarski JJ, Chandra S, Chandrakasan S, Gilio AP, Madden LM, Quigg TC, Caywood EH, Dávila Saldaña BJ, DeSantes K, Eissa H, Goldman FD, Rozmus J, Shah A, Vander Lugt MT, Thakar MS, Parrott RE, Martinez CA, Leiding JW, Torgerson TR, Pulsipher MA, Notarangelo LD, Cowan MJ, Dvorak CC, Haddad E, Puck JM, Kohn DB. Outcomes Following Treatment for Adenosine Deaminase Deficient Severe Combined Immunodeficiency: A Report from the PIDTC. Blood. 2022 Jun 7:blood.2022016196. doi: 10.1182/blood.2022016196. Epub ahead of print. PMID: 35671392.
Kumar D, Rostad CA, Jaggi P, Villacis Nunez DS, Prince C, Lu A, Hussaini L, Nguyen TH, Malik S, Ponder LA, Shenoy SPV, Anderson EJ, Briones M, Sanz I, Prahalad S, Chandrakasan S. Distinguishing immune activation and inflammatory signatures of multisystem inflammatory syndrome in children (MIS-C) versus hemophagocytic lymphohistiocytosis (HLH). J Allergy Clin Immunol. 2022 May;149(5):1592-1606.e16. doi: 10.1016/j.jaci.2022.02.028. Epub 2022 Mar 15. PMID: 35304157; PMCID: PMC8923010.
Blom M, Zetterström RH, Stray-Pedersen A, Gilmour K, Gennery AR, Puck JM, van der Burg M. Recommendations for uniform definitions used in newborn screening for severe combined immunodeficiency. J Allergy Clin Immunol. 2022 Apr;149(4):1428-1436. doi: 10.1016/j.jaci.2021.08.026. Epub 2021 Sep 16.
Delmonte OM, Castagnoli R, Yu J, Dvorak CC, Cowan MJ, Dávila Saldaña BJ, De Ravin SS, Mamcarz E, Chang CK, Daley SR, Griffith LM, Notarangelo LD, Puck JM. Poor T-cell receptor β repertoire diversity early posttransplant for severe combined immunodeficiency predicts failure of immune reconstitution. J Allergy Clin Immunol. 2022 Mar;149(3):1113-1119. doi: 10.1016/j.jaci.2021.07.029. Epub 2021 Aug 9. PMID: 34384841; PMCID: PMC9132846.
Kumar D, Prince C, Bennett CM, Briones M, Lucas L, Russell A, Patel K, Chonat S, Graciaa S, Edington H, White MH, Kobrynski L, Abdalgani M, Parikh S, Chandra S, Bleesing J, Marsh R, Park S, Waller EK, Prahalad S, Chandrakasan S. T-follicular helper cell expansion and chronic T-cell activation are characteristic immune anomalies in Evans syndrome. Blood. 2022 Jan 20;139(3):369-383. doi: 10.1182/blood.2021012924.
Puck JM, Gennery AR. Establishing Newborn Screening for SCID in the USA; Experience in California. Int J Neonatal Screen. 2021 Oct 31;7(4):72. doi: 10.3390/ijns7040072. PMID: 34842619; PMCID: PMC8628983.
Shamriz O, Kumar D, Shim J, Briones M, Quarmyne MO, Chonat S, Lucas L, Edington H, White MH, Mahajan A, Park S, Chandrakasan S. T Cell-Epstein-Barr Virus-Associated Hemophagocytic Lymphohistiocytosis (HLH) Occurs in Non-Asians and Is Associated with a T Cell Activation State that Is Comparable to Primary HLH. J Clin Immunol. 2021 Oct;41(7):1582-1596. doi: 10.1007/s10875-021-01073-9. Epub 2021 Jun 26.
Smith H, Scalchunes C, Cowan MJ, Puck J, Heimall J. Expectations and experience: Parent and patient perspectives regarding treatment for Severe Combined Immunodeficiency (SCID). Clin Immunol. 2021 Aug;229:108778. doi: 10.1016/j.clim.2021.108778. Epub 2021 Jun 16. PMID: 34144198; PMCID: PMC8559521.
Forlanini F, Dara J, Dvorak CC, Cowan MJ, Puck JM, Dorsey MJ. Unknown cytomegalovirus serostatus in primary immunodeficiency disorders: A new category of transplant recipients. Transpl Infect Dis. 2021 Apr;23(2):e13504. doi: 10.1111/tid.13504. Epub 2020 Nov 29.
Narain S, Stefanov DG, Chau AS, Weber AG, Marder G, Kaplan B, Malhotra P, Bloom O, Liu A, Lesser ML, Hajizadeh N; Northwell COVID-19 Research Consortium. Comparative Survival Analysis of Immunomodulatory Therapy for Coronavirus Disease 2019 Cytokine Storm. Chest. 2021 Mar;159(3):933-948. doi: 10.1016/j.chest.2020.09.275. Epub 2020 Oct 17.
Currier R, Puck JM. SCID newborn screening: What we've learned. J Allergy Clin Immunol. 2021 Feb;147(2):417-426. doi: 10.1016/j.jaci.2020.10.020.
Maron G, Kaste S, Bahrami A, Neel M, Malech HL, Puck JM, Cowan MJ, Gottschalk S, Mamcarz E. Successful SCID gene therapy in infant with disseminated BCG. J Allergy Clin Immunol Pract. 2021 Feb;9(2):993-995.e1. doi: 10.1016/j.jaip.2020.09.004. Epub 2020 Sep 16.
Buchbinder D, Walter JE, Butte MJ, Chan WY, Chitty Lopez M, Dimitriades VR, Dorsey MJ, Nugent DJ, Puck JM, Singh J, Collins CA. When Screening for Severe Combined Immunodeficiency (SCID) with T Cell Receptor Excision Circles Is Not SCID: a Case-Based Review. J Clin Immunol. 2021 Feb;41(2):294-302. doi: 10.1007/s10875-020-00931-2. Epub 2021 Jan 7. PMID: 33411155; PMCID: PMC8179373.
Dorsey MJ, Wright NAM, Chaimowitz NS, Dávila Saldaña BJ, Miller H, Keller MD, Thakar MS, Shah AJ, Abu-Arja R, Andolina J, Aquino V, Barnum JL, Bednarski JJ, Bhatia M, Bonilla FA, Butte MJ, Bunin NJ, Chandra S, Chaudhury S, Chen K, Chong H, Cuvelier GDE, Dalal J, DeFelice ML, DeSantes KB, Forbes LR, Gillio A, Goldman F, Joshi AY, Kapoor N, Knutsen AP, Kobrynski L, Lieberman JA, Leiding JW, Oshrine B, Patel KP, Prockop S, Quigg TC, Quinones R, Schultz KR, Seroogy C, Shyr D, Siegel S, Smith AR, Torgerson TR, Vander Lugt MT, Yu LC, Cowan MJ, Buckley RH, Dvorak CC, Griffith LM, Haddad E, Kohn DB, Logan B, Notarangelo LD, Pai SY, Puck J, Pulsipher MA, Heimall J. Infections in Infants with SCID: Isolation, Infection Screening, and Prophylaxis in PIDTC Centers. J Clin Immunol. 2021 Jan;41(1):38-50. doi: 10.1007/s10875-020-00865-9. Epub 2020 Oct 2.
Chau AS, Weber AG, Maria NI, Narain S, Liu A, Hajizadeh N, Malhotra P, Bloom O, Marder G, Kaplan B. The Longitudinal Immune Response to Coronavirus Disease 2019: Chasing the Cytokine Storm. Arthritis Rheumatol. 2021 Jan;73(1):23-35. doi: 10.1002/art.41526. Epub 2020 Dec 1.
Chan AY, Torgerson TR. Primary immune regulatory disorders: a growing universe of immune dysregulation. Curr Opin Allergy Clin Immunol. 2020 Dec;20(6):582-590. doi: 10.1097/ACI.0000000000000689.
Meitlis I, Allenspach EJ, Bauman BM, Phan IQ, Dabbah G, Schmitt EG, Camp ND, Torgerson TR, Nickerson DA, Bamshad MJ, Hagin D, Luthers CR, Stinson JR, Gray J, Lundgren I, Church JA, Butte MJ, Jordan MB, Aceves SS, Schwartz DM, Milner JD, Schuval S, Skoda-Smith S, Cooper MA, Starita LM, Rawlings DJ, Snow AL, James RG. Multiplexed Functional Assessment of Genetic Variants in CARD11. Am J Hum Genet. 2020 Nov 12:S0002-9297(20)30373-6. doi: 10.1016/j.ajhg.2020.10.015. Epub ahead of print. PMID: 33202260. PMCID: PMC7820631.
There has been a rapid increase in the availability and utilization of genetic testing in medicine, but the interpretation of these genetic results is often lagging. Patients often get reports labeling variants of “uncertain significance”, which should not be used for medical decision making. This hinders precision medicine. There are many pieces of data that clinicians and geneticists use to interpret variants as either benign or disease-causing including functional testing. Often this time-consuming process follows variant identification and delays treatment. In this study, we focused on a novel approach to simultaneously screen the functional effect of a large number of variants in the gene CARD11, an adaptor protein that expresses blocking or gain-offunction variants associated with distinct immunodeficiencies. We used genome editing to make a population of cells with all possible genetic changes at the same time to functionally screen them to provide a database to provide up front predictions. This information can now be utilized together with family history, clinical symptoms and other laboratory testing to aid in diagnosis. We generated functional scores for 2,542 coding and 38 noncoding variants of CARD11 and applied our predictions to new patients with novel mutations and compared to traditional methods. The classification of reported clinical variants was sensitive (94.6%) and specific (88.9%), which rendered the data immediately useful for interpretation of seven coding and splicing variants implicated in immunodeficiency ISSUE 12 |WINTER 2020| PAGE 6 found in our clinic. This approach is generalizable for variant interpretation in many other clinically actionable genes, in any relevant cell type.
Bosticardo M, Pala F, Calzoni E, Delmonte OM, Dobbs K, Gardner CL, Sacchetti N, Kawai T, Garabedian EK, Draper D, Bergerson JRE, DeRavin SS, Freeman AF, Güngör T, Hartog N, Holland SM, Kohn DB, Malech HL, Markert ML, Weinacht KG, Villa A, Seet CS, Montel-Hagen A, Crooks GM, Notarangelo LD. Artificial thymic organoids represent a reliable tool to study T-cell differentiation in patients with severe T-cell lymphopenia. Blood Adv. 2020 Jun 23;4(12):2611-2616. doi: 10.1182/bloodadvances.2020001730.
Bifsha P, Leiding JW, Pai SY, Colamartino ABL, Hartog N, Church JA, Oshrine BR, Puck JM, Markert ML, Haddad E. Diagnostic assay to assist clinical decisions for unclassified severe combined immune deficiency. Blood Adv. 2020 Jun 23;4(12):2606-2610. doi: 10.1182/bloodadvances.2020001736.
Burroughs LM, Petrovic A, Brazauskas R, Liu X, Griffith LM, Ochs HD, Bleesing JJ, Edwards S, Dvorak CC, Chaudhury S, Prockop SE, Quinones R, Goldman FD, Quigg TC, Chandrakasan S, Smith AR, Parikh S, Dávila Saldaña BJ, Thakar MS, Phelan R, Shenoy S, Forbes LR, Martinez C, Chellapandian D, Shereck E, Miller HK, Kapoor N, Barnum JL, Chong H, Shyr DC, Chen K, Abu-Arja R, Shah AJ, Weinacht KG, Moore TB, Joshi A, DeSantes KB, Gillio AP, Cuvelier GDE, Keller MD, Rozmus J, Torgerson T, Pulsipher MA, Haddad E, Sullivan KE, Logan BR, Kohn DB, Puck JM, Notarangelo LD, Pai SY, Rawlings DJ, Cowan MJ. Excellent outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome: a PIDTC report. Blood. 2020 Jun 4;135(23):2094-2105. doi: 10.1182/blood.2019002939.
Takushi SE, Paik NY, Fedanov A, Prince C, Doering CB, Spencer HT, Chandrakasan S. Lentiviral Gene Therapy for Familial Hemophagocytic Lymphohistiocytosis Type 3, Caused by UNC13D Genetic Defects. Hum Gene Ther. 2020 Jun;31(11-12):626-638. doi: 10.1089/hum.2019.329.
Weber AG, Chau AS, Egeblad M, Barnes BJ, Janowitz T. Nebulized in-line endotracheal dornase alfa and albuterol administered to mechanically ventilated COVID-19 patients: A case series. medRxiv. 2020 May 15:2020.05.13.20087734. doi: 10.1101/2020.05.13.20087734. Preprint.
Chan AY, Leiding JW, Liu X, Logan BR, Burroughs LM, Allenspach EJ, Skoda-Smith S, Uzel G, Notarangelo LD, Slatter M, Gennery AR, Smith AR, Pai SY, Jordan MB, Marsh RA, Cowan MJ, Dvorak CC, Craddock JA, Prockop SE, Chandrakasan S, Kapoor N, Buckley RH, Parikh S, Chellapandian D, Oshrine BR, Bednarski JJ, Cooper MA, Shenoy S, Davila Saldana BJ, Forbes LR, Martinez C, Haddad E, Shyr DC, Chen K, Sullivan KE, Heimall J, Wright N, Bhatia M, Cuvelier GDE, Goldman FD, Meyts I, Miller HK, Seidel MG, Vander Lugt MT, Bacchetta R, Weinacht KG, Andolina JR, Caywood E, Chong H, de la Morena MT, Aquino VM, Shereck E, Walter JE, Dorsey MJ, Seroogy CM, Griffith LM, Kohn DB, Puck JM, Pulsipher MA, Torgerson TR. Hematopoietic Cell Transplantation in Patients With Primary Immune Regulatory Disorders (PIRD): A Primary Immune Deficiency Treatment Consortium (PIDTC) Survey. Front Immunol. 2020 Feb 21;11:239. doi: 10.3389/fimmu.2020.00239. eCollection 2020.
Amatuni GS, Sciortino S, Currier RJ, Naides SJ, Church JA, Puck JM. Reference intervals for lymphocyte subsets in preterm and term neonates without immune defects. J Allergy Clin Immunol. 2019 Dec;144(6):1674-1683. doi: 10.1016/j.jaci.2019.05.038. Epub 2019 Jun 18.
Shah AJ, Sokolic R, Logan B, Yin Z, Iyengar S, Scalchunes C, Mangurian C, Albert M, Cowan MJ. Quality of Life of Patients with Wiskott Aldrich Syndrome and X-Linked Thrombocytopenia: a Study of the Primary Immune Deficiency Consortium (PIDTC), Immune Deficiency Foundation, and the Wiskott-Aldrich Foundation. J Clin Immunol. 2019 Nov;39(8):786-794. doi: 10.1007/s10875-019-00689-2. Epub 2019 Oct 16.
Marsh RA, Leiding JW, Logan BR, Griffith LM, Arnold DE, Haddad E, Falcone EL, Yin Z, Patel K, Arbuckle E, Bleesing JJ, Sullivan KE, Heimall J, Burroughs LM, Skoda-Smith S, Chandrakasan S, Yu LC, Oshrine BR, Cuvelier GDE, Thakar MS, Chen K, Teira P, Shenoy S, Phelan R, Forbes LR, Chellapandian D, Dávila Saldaña BJ, Shah AJ, Weinacht KG, Joshi A, Boulad F, Quigg TC, Dvorak CC, Grossman D, Torgerson T, Graham P, Prasad V, Knutsen A, Chong H, Miller H, de la Morena MT, DeSantes K, Cowan MJ, Notarangelo LD, Kohn DB, Stenger E, Pai SY, Routes JM, Puck JM, Kapoor N, Pulsipher MA, Malech HL, Parikh S, Kang EM; submitted on behalf of the Primary Immune Deficiency Treatment Consortium. Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT. J Clin Immunol. 2019 Oct;39(7):653-667. doi: 10.1007/s10875-019-00659-8. Epub 2019 Aug 2.
Mangurian C, Scalchunes C, Yoo J, Logan B, Henderson T, Iyengar S, Smith H, Cowan MJ. Psychosocial services for primary immunodeficiency disorder families during hematopoietic cell transplantation: A descriptive study. Palliat Support Care. 2019 Aug;17(4):409-414. doi: 10.1017/S1478951518000603.
Dvorak CC, Long-Boyle J, Dara J, Melton A, Shimano KA, Huang JN, Puck JM, Dorsey MJ, Facchino J, Chang CK, Cowan MJ. Low Exposure Busulfan Conditioning to Achieve Sufficient Multilineage Chimerism in Patients with Severe Combined Immunodeficiency. Biol Blood Marrow Transplant. 2019 Jul;25(7):1355-1362. doi: 10.1016/j.bbmt.2019.03.008. Epub 2019 Mar 12.
Ferrua F, Galimberti S, Courteille V, Slatter MA, Booth C, Moshous D, Neven B, Blanche S, Cavazzana M, Laberko A, Shcherbina A, Balashov D, Soncini E, Porta F, Al-Mousa H, Al-Saud B, Al-Dhekri H, Arnaout R, Formankova R, Bertrand Y, Lange A, Smart J, Wolska-Kusnierz B, Aquino VM, Dvorak CC, Fasth A, Fouyssac F, Heilmann C, Hoenig M, Schuetz C, Kelečić J, Bredius RGM, Lankester AC, Lindemans CA, Suarez F, Sullivan KE, Albert MH, Kałwak K, Barlogis V, Bhatia M, Bordon V, Czogala W, Alonso L, Dogu F, Gozdzik J, Ikinciogullari A, Kriván G, Ljungman P, Meyts I, Mustillo P, Smith AR, Speckmann C, Sundin M, Keogh SJ, Shaw PJ, Boelens JJ, Schulz AS, Sedlacek P, Veys P, Mahlaoui N, Janda A, Davies EG, Fischer A, Cowan MJ, Gennery AR; SCETIDE, PIDTC, EBMT & ESID IEWP. Hematopoietic stem cell transplantation for CD40 ligand deficiency: Results from an EBMT/ESID-IEWP-SCETIDE-PIDTC study. J Allergy Clin Immunol. 2019 Jun;143(6):2238-2253. doi: 10.1016/j.jaci.2018.12.1010. Epub 2019 Jan 17.
Yoo J, Halley MC, Lown EA, Yank V, Ort K, Cowan MJ, Dorsey MJ, Smith H, Iyengar S, Scalchunes C, Mangurian C. Supporting caregivers during hematopoietic cell transplantation for children with primary immunodeficiency disorders. J Allergy Clin Immunol. 2019 Jun;143(6):2271-2278. doi: 10.1016/j.jaci.2018.10.017. Epub 2018 Oct 25.
Mamcarz E, Zhou S, Lockey T, Abdelsamed H, Cross SJ, Kang G, Ma Z, Condori J, Dowdy J, Triplett B, Li C, Maron G, Aldave Becerra JC, Church JA, Dokmeci E, Love JT, da Matta Ain AC, van der Watt H, Tang X, Janssen W, Ryu BY, De Ravin SS, Weiss MJ, Youngblood B, Long-Boyle JR, Gottschalk S, Meagher MM, Malech HL, Puck JM, Cowan MJ, Sorrentino BP. Lentiviral Gene Therapy Combined with Low-Dose Busulfan in Infants with SCID-X1. N Engl J Med. 2019 Apr 18;380(16):1525-1534. doi: 10.1056/NEJMoa1815408.
Kohn DB, Hershfield MS, Puck JM, Aiuti A, Blincoe A, Gaspar HB, Notarangelo LD, Grunebaum E. Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency. J Allergy Clin Immunol. 2019 Mar;143(3):852-863. doi: 10.1016/j.jaci.2018.08.024. Epub 2018 Sep 5.
Amatuni GS, Currier RJ, Church JA, Bishop T, Grimbacher E, Nguyen AA, Agarwal-Hashmi R, Aznar CP, Butte MJ, Cowan MJ, Dorsey MJ, Dvorak CC, Kapoor N, Kohn DB, Markert ML, Moore TB, Naides SJ, Sciortino S, Feuchtbaum L, Koupaei RA, Puck JM. Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017. Pediatrics. 2019 Feb;143(2):e20182300. doi: 10.1542/peds.2018-2300.
Dorsey MJ, Puck JM. Newborn Screening for Severe Combined Immunodeficiency in the United States: Lessons Learned. Immunol Allergy Clin North Am. 2019 Feb;39(1):1-11. doi: 10.1016/j.iac.2018.08.002. Epub 2018 Nov 1.
Puck JM. Newborn screening for severe combined immunodeficiency and T-cell lymphopenia. Immunol Rev. 2019 Jan;287(1):241-252. doi: 10.1111/imr.12729.
Dvorak CC, Haddad E, Buckley RH, Cowan MJ, Logan B, Griffith LM, Kohn DB, Pai SY, Notarangelo L, Shearer W, Prockop S, Kapoor N, Heimall J, Chaudhury S, Shyr D, Chandra S, Cuvelier G, Moore T, Shenoy S, Goldman F, Smith AR, Sunkersett G, Vander Lugt M, Caywood E, Quigg T, Torgerson T, Chandrakasan S, Craddock J, Dávila Saldaña BJ, Gillio A, Shereck E, Aquino V, DeSantes K, Knutsen A, Thakar M, Yu L, Puck JM. The genetic landscape of severe combined immunodeficiency in the United States and Canada in the current era (2010-2018). J Allergy Clin Immunol. 2019 Jan;143(1):405-407. doi: 10.1016/j.jaci.2018.08.027. Epub 2018 Sep 5.
Sullivan KE, Conrad M, Kelsen JR. Very early-onset inflammatory bowel disease: an integrated approach. Curr Opin Allergy Clin Immunol. 2018 Dec;18(6):459-469. doi: 10.1097/ACI.0000000000000484.
Belderbos ME, Gennery AR, Dvorak CC, Blok HJ, Eikema DJ, Silva JMF, Veys P, Neven B, Buckley R, Cole T, Cowan MJ, Goebel WS, Hoenig M, Kuo CY, Stiehm ER, Wynn R, Bierings M; Inborn Errors Working Party of the European Group for Blood and Marrow Transplantation and the Primary Immune Deficiency Treatment Consortium. Outcome of domino hematopoietic stem cell transplantation in human subjects: An international case series. J Allergy Clin Immunol. 2018 Nov;142(5):1628-1631.e4. doi: 10.1016/j.jaci.2018.06.030. Epub 2018 Jul 5.
Chinen J, Cowan MJ. Advances and highlights in primary immunodeficiencies in 2017. J Allergy Clin Immunol. 2018 Oct;142(4):1041-1051. doi: 10.1016/j.jaci.2018.08.016. Epub 2018 Aug 29.
Buchbinder D, Smith MJ, Kawahara M, Cowan MJ, Buzby JS, Abraham RS. Application of a radiosensitivity flow assay in a patient with DNA ligase 4 deficiency. Blood Adv. 2018 Aug 14;2(15):1828-1832. doi: 10.1182/bloodadvances.2018016113.
Haddad E, Logan BR, Griffith LM, et al. SCID genotype and 6-month post-transplant CD4 count predict survival and immune recovery: a PIDTC retrospective study. Blood. Aug 2018. PMID: 30154114. Pending PMCID.
Puck JM. Lessons for Sequencing from the Addition of Severe Combined Immunodeficiency to Newborn Screening Panels. Hastings Cent Rep. 2018 Jul;48 Suppl 2(Suppl 2):S7-S9. doi: 10.1002/hast.875.
Miggelbrink AM, Logan BR, Buckley RH, Parrott RE, Dvorak CC, Kapoor N, Abdel-Azim H, Prockop SE, Shyr D, Decaluwe H, Hanson IC, Gillio A, Dávila Saldaña BJ, Eibel H, Hopkins G, Walter JE, Whangbo JS, Kohn DB, Puck JM, Cowan MJ, Griffith LM, Haddad E, O'Reilly RJ, Notarangelo LD, Pai SY. B-cell differentiation and IL-21 response in IL2RG/JAK3 SCID patients after hematopoietic stem cell transplantation. Blood. 2018 Jun 28;131(26):2967-2977. doi: 10.1182/blood-2017-10-809822. Epub 2018 May 4.
Kuo CY, Long JD, Campo-Fernandez B, de Oliveira S, Cooper AR, Romero Z, Hoban MD, Joglekar AV, Lill GR, Kaufman ML, Fitz-Gibbon S, Wang X, Hollis RP, Kohn DB. Site-Specific Gene Editing of Human Hematopoietic Stem Cells for X-Linked Hyper-IgM Syndrome. Cell Rep. 2018 May 29;23(9):2606-2616. doi: 10.1016/j.celrep.2018.04.103.
Barzaghi F, Amaya Hernandez LC, Neven B, Ricci S, Kucuk ZY, Bleesing JJ, Nademi Z, Slatter MA, Ulloa ER, Shcherbina A, Roppelt A, Worth A, Silva J, Aiuti A, Murguia-Favela L, Speckmann C, Carneiro-Sampaio M, Fernandes JF, Baris S, Ozen A, Karakoc-Aydiner E, Kiykim A, Schulz A, Steinmann S, Notarangelo LD, Gambineri E, Lionetti P, Shearer WT, Forbes LR, Martinez C, Moshous D, Blanche S, Fisher A, Ruemmele FM, Tissandier C, Ouachee-Chardin M, Rieux-Laucat F, Cavazzana M, Qasim W, Lucarelli B, Albert MH, Kobayashi I, Alonso L, Diaz De Heredia C, Kanegane H, Lawitschka A, Seo JJ, Gonzalez-Vicent M, Diaz MA, Goyal RK, Sauer MG, Yesilipek A, Kim M, Yilmaz-Demirdag Y, Bhatia M, Khlevner J, Richmond Padilla EJ, Martino S, Montin D, Neth O, Molinos-Quintana A, Valverde-Fernandez J, Broides A, Pinsk V, Ballauf A, Haerynck F, Bordon V, Dhooge C, Garcia-Lloret ML, Bredius RG, Kałwak K, Haddad E, Seidel MG, Duckers G, Pai SY, Dvorak CC, Ehl S, Locatelli F, Goldman F, Gennery AR, Cowan MJ, Roncarolo MG, Bacchetta R; Primary Immune Deficiency Treatment Consortium (PIDTC) and the Inborn Errors Working Party (IEWP) of the European Society for Blood and Marrow Transplantation (EBMT). Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study. J Allergy Clin Immunol. 2018 Mar;141(3):1036-1049.e5. doi: 10.1016/j.jaci.2017.10.041. Epub 2017 Dec 11.
Langelier C, Zinter MS, Kalantar K, Yanik GA, Christenson S, O'Donovan B, White C, Wilson M, Sapru A, Dvorak CC, Miller S, Chiu CY, DeRisi JL. Metagenomic Sequencing Detects Respiratory Pathogens in Hematopoietic Cellular Transplant Patients. Am J Respir Crit Care Med. 2018 Feb 15;197(4):524-528. doi: 10.1164/rccm.201706-1097LE.
Leiding JW, Okada S, Hagin D, Abinun M, Shcherbina A, Balashov DN, Kim VHD, Ovadia A, Guthery SL, Pulsipher M, Lilic D, Devlin LA, Christie S, Depner M, Fuchs S, van Royen-Kerkhof A, Lindemans C, Petrovic A, Sullivan KE, Bunin N, Kilic SS, Arpaci F, Calle-Martin O, Martinez-Martinez L, Aldave JC, Kobayashi M, Ohkawa T, Imai K, Iguchi A, Roifman CM, Gennery AR, Slatter M, Ochs HD, Morio T, Torgerson TR; Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation and the Primary Immune Deficiency Treatment Consortium. Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations. J Allergy Clin Immunol. 2018 Feb;141(2):704-717.e5. doi: 10.1016/j.jaci.2017.03.049. Epub 2017 Jun 7.
Slack J, Albert MH, Balashov D, Belohradsky BH, Bertaina A, Bleesing J, Booth C, Buechner J, Buckley RH, Ouachée-Chardin M, Deripapa E, Drabko K, Eapen M, Feuchtinger T, Finocchi A, Gaspar HB, Ghosh S, Gillio A, Gonzalez-Granado LI, Grunebaum E, Güngör T, Heilmann C, Helminen M, Higuchi K, Imai K, Kalwak K, Kanazawa N, Karasu G, Kucuk ZY, Laberko A, Lange A, Mahlaoui N, Meisel R, Moshous D, Muramatsu H, Parikh S, Pasic S, Schmid I, Schuetz C, Schulz A, Schultz KR, Shaw PJ, Slatter MA, Sykora KW, Tamura S, Taskinen M, Wawer A, Wolska-Kuśnierz B, Cowan MJ, Fischer A, Gennery AR; Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation and the European Society for Immunodeficiencies; Stem Cell Transplant for Immunodeficiencies in Europe (SCETIDE); Center for International Blood and Marrow Transplant Research; Primary Immunodeficiency Treatment Consortium. Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders. J Allergy Clin Immunol. 2018 Jan;141(1):322-328.e10. doi: 10.1016/j.jaci.2017.02.036. Epub 2017 Apr 7.
Heimall J, Logan BR, Cowan MJ, Notarangelo LD, Griffith LM, Puck JM, Kohn DB, Pulsipher MA, Parikh S, Martinez C, Kapoor N, O'Reilly R, Boyer M, Pai SY, Goldman F, Burroughs L, Chandra S, Kletzel M, Thakar M, Connelly J, Cuvelier G, Davila Saldana BJ, Shereck E, Knutsen A, Sullivan KE, DeSantes K, Gillio A, Haddad E, Petrovic A, Quigg T, Smith AR, Stenger E, Yin Z, Shearer WT, Fleisher T, Buckley RH, Dvorak CC. Immune reconstitution and survival of 100 SCID patients post-hematopoietic cell transplant: a PIDTC natural history study. Blood. 2017 Dec 21;130(25):2718-2727. doi: 10.1182/blood-2017-05-781849. Epub 2017 Oct 11.
Biggs CM, Haddad E, Issekutz TB, Roifman CM, Turvey SE. Newborn screening for severe combined immunodeficiency: a primer for clinicians. CMAJ. 2017 Dec 18;189(50):E1551-E1557. doi: 10.1503/cmaj.170561.
Rowe JH, Stadinski BD, Henderson LA, Ott de Bruin L, Delmonte O, Lee YN, de la Morena MT, Goyal RK, Hayward A, Huang CH, Kanariou M, King A, Kuijpers TW, Soh JY, Neven B, Walter JE, Huseby ES, Notarangelo LD. Abnormalities of T-cell receptor repertoire in CD4(+) regulatory and conventional T cells in patients with RAG mutations: Implications for autoimmunity. J Allergy Clin Immunol. 2017 Dec;140(6):1739-1743.e7. doi: 10.1016/j.jaci.2017.08.001. Epub 2017 Aug 31.
Heimall J, Cowan MJ. Long term outcomes of severe combined immunodeficiency: therapy implications. Expert Rev Clin Immunol. 2017 Nov;13(11):1029-1040. doi: 10.1080/1744666X.2017.1381558. Epub 2017 Sep 23.
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Dvorak CC, Puck JM, Wahlstrom JT, Dorsey M, Melton A, Cowan MJ. Neurologic event-free survival demonstrates a benefit for SCID patients diagnosed by newborn screening. Blood Adv. 2017 Sep 5;1(20):1694-1698. doi: 10.1182/bloodadvances.2017010835. eCollection 2017 Sep 12.
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Dvorak CC, Patel K, Puck JM, Wahlstrom J, Dorsey MJ, Adams R, Facchino J, Cowan MJ. Unconditioned unrelated donor bone marrow transplantation for IL7Rα- and Artemis-deficient SCID. Bone Marrow Transplant. 2017 Jul;52(7):1036-1038. doi: 10.1038/bmt.2017.74. Epub 2017 Apr 24.
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Dorsey MJ, Dvorak CC, Cowan MJ, Puck JM. Treatment of infants identified as having severe combined immunodeficiency by means of newborn screening. J Allergy Clin Immunol. 2017 Mar;139(3):733-742. doi: 10.1016/j.jaci.2017.01.005.
Kumánovics A, Lee YN, Close DW, Coonrod EM, Ujhazi B, Chen K, MacArthur DG, Krivan G, Notarangelo LD, Walter JE. Estimated disease incidence of RAG1/2 mutations: A case report and querying the Exome Aggregation Consortium. J Allergy Clin Immunol. 2017 Feb;139(2):690-692.e3. doi: 10.1016/j.jaci.2016.07.027. Epub 2016 Sep 5.
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Dietz AC, Duncan CN, Alter BP, Bresters D, Cowan MJ, Notarangelo L, Rosenberg PS, Shenoy S, Skinner R, Walters MC, Wagner J, Baker KS, Pulsipher MA. The Second Pediatric Blood and Marrow Transplant Consortium International Consensus Conference on Late Effects after Pediatric Hematopoietic Cell Transplantation: Defining the Unique Late Effects of Children Undergoing Hematopoietic Cell Transplantation for Immune Deficiencies, Inherited Marrow Failure Disorders, and Hemoglobinopathies. Biol Blood Marrow Transplant. 2017 Jan;23(1):24-29. doi: 10.1016/j.bbmt.2016.10.004. Epub 2016 Oct 11.
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Chinen J, Notarangelo LD, Shearer WT. Advances in basic and clinical immunology in 2014. J Allergy Clin Immunol. May 2015;135(5):1132-1141. PMID: 25956014. Pending PMCID.
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Long-Boyle JR, Savic R, Yan S, Bartelink I, Musick L, French D, Law J, Horn B, Cowan MJ, Dvorak CC. Population pharmacokinetics of busulfan in pediatric and young adult patients undergoing hematopoietic cell transplant: a model-based dosing algorithm for personalized therapy and implementation into routine clinical use. Ther Drug Monit. 2015 Apr;37(2):236-45. doi: 10.1097/FTD.0000000000000131.
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Chen K, Wu W, Mathew D, Zhang Y, Browne SK, Rosen LB, McManus MP, Pulsipher MA, Yandell M, Bohnsack JF, Jorde LB, Notarangelo LD, Walter JE. Autoimmunity due to RAG deficiency and estimated disease incidence in RAG1/2 mutations. J Allergy Clin Immunol. 2014 Mar;133(3):880-2.e10. doi: 10.1016/j.jaci.2013.11.038. Epub 2014 Jan 25.
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Johnson TS, Terrell CE, Millen SH, Katz JD, Hildeman DA, Jordan MB. Etoposide selectively ablates activated T cells to control the immunoregulatory disorder hemophagocytic lymphohistiocytosis. J Immunol. 2014 Jan 1;192(1):84-91. doi: 10.4049/jimmunol.1302282. Epub 2013 Nov 20.
Savic RM, Cowan MJ, Dvorak CC, Pai SY, Pereira L, Bartelink IH, Boelens JJ, Bredius RG, Wynn RF, Cuvelier GD, Shaw PJ, Slatter MA, Long-Boyle J. Effect of weight and maturation on busulfan clearance in infants and small children undergoing hematopoietic cell transplantation. Biol Blood Marrow Transplant. 2013 Nov;19(11):1608-14. doi: 10.1016/j.bbmt.2013.08.014. Epub 2013 Sep 9.
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Dvorak CC, Cowan MJ, Logan BR, Notarangelo LD, Griffith LM, Puck JM, Kohn DB, Shearer WT, O'Reilly RJ, Fleisher TA, Pai SY, Hanson IC, Pulsipher MA, Fuleihan R, Filipovich A, Goldman F, Kapoor N, Small T, Smith A, Chan KW, Cuvelier G, Heimall J, Knutsen A, Loechelt B, Moore T, Buckley RH. The natural history of children with severe combined immunodeficiency: baseline features of the first fifty patients of the primary immune deficiency treatment consortium prospective study 6901. J Clin Immunol. 2013 Oct;33(7):1156-64. doi: 10.1007/s10875-013-9917-y. Epub 2013 Jul 2.
Chen R, Giliani S, Lanzi G, Mias GI, Lonardi S, Dobbs K, Manis J, Im H, Gallagher JE, Phanstiel DH, Euskirchen G, Lacroute P, Bettinger K, Moratto D, Weinacht K, Montin D, Gallo E, Mangili G, Porta F, Notarangelo LD, Pedretti S, Al-Herz W, Alfahdli W, Comeau AM, Traister RS, Pai SY, Carella G, Facchetti F, Nadeau KC, Snyder M, Notarangelo LD. Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias. J Allergy Clin Immunol. 2013 Sep;132(3):656-664.e17. doi: 10.1016/j.jaci.2013.06.013. Epub 2013 Jul 4.
Teigland CL, Parrott RE, Buckley RH. Long-term outcome of non-ablative booster BMT in patients with SCID. Bone Marrow Transplant. 2013 Aug;48(8):1050-5. doi: 10.1038/bmt.2013.6. Epub 2013 Feb 11.
Kwan A, Church JA, Cowan MJ, Agarwal R, Kapoor N, Kohn DB, Lewis DB, McGhee SA, Moore TB, Stiehm ER, Porteus M, Aznar CP, Currier R, Lorey F, Puck JM. Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years. J Allergy Clin Immunol. 2013 Jul;132(1):140-50. doi: 10.1016/j.jaci.2013.04.024.
Horn B, Cowan MJ. Unresolved issues in hematopoietic stem cell transplantation for severe combined immunodeficiency: need for safer conditioning and reduced late effects. J Allergy Clin Immunol. 2013 May;131(5):1306-11. doi: 10.1016/j.jaci.2013.03.014.
Selleri S, Dieng MM, Nicoletti S, Louis I, Beausejour C, Le Deist F, Haddad E. Cord-blood-derived mesenchymal stromal cells downmodulate CD4+ T-cell activation by inducing IL-10-producing Th1 cells. Stem Cells Dev. 2013 Apr 1;22(7):1063-75. doi: 10.1089/scd.2012.0315. Epub 2013 Jan 4.
Haddad E, Leroy S, Buckley RH. B-cell reconstitution for SCID: should a conditioning regimen be used in SCID treatment?. J Allergy Clin Immunol. 2013 Apr;131(4):994-1000. doi: 10.1016/j.jaci.2013.01.047. Epub 2013 Mar 5.
Gelfand EW, Ochs HD, Shearer WT. Controversies in IgG replacement therapy in patients with antibody deficiency diseases. J Allergy Clin Immunol. Apr 2013;131(4):1001-1005. PMID: 23540617. Pending PMCID.
Henderson LA, Frugoni F, Hopkins G, Al-Herz W, Weinacht K, Comeau AM, Bonilla FA, Notarangelo LD, Pai SY. First reported case of Omenn syndrome in a patient with reticular dysgenesis. J Allergy Clin Immunol. 2013 Apr;131(4):1227-30, 1230.e1-3. doi: 10.1016/j.jaci.2012.07.045. Epub 2012 Sep 24.
Cattaneo F, Recher M, Masneri S, Baxi SN, Fiorini C, Antonelli F, Wysocki CA, Calderon JG, Eibel H, Smith AR, Bonilla FA, Tsitsikov E, Giliani S, Notarangelo LD, Pai SY. Hypomorphic Janus kinase 3 mutations result in a spectrum of immune defects, including partial maternal T-cell engraftment. J Allergy Clin Immunol. 2013 Apr;131(4):1136-45. doi: 10.1016/j.jaci.2012.12.667. Epub 2013 Feb 4.
Chinen J, Notarangelo LD, Shearer WT. Advances in basic and clinical immunology in 2012. J Allergy Clin Immunol. Mar 2013;131(3):675-682. PMID: 23374612. Pending PMCID.
Buckley RH, Win CM, Moser BK, Parrott RE, Sajaroff E, Sarzotti-Kelsoe M. Post-transplantation B cell function in different molecular types of SCID. J Clin Immunol. Jan 2013;33(1):96-110. PMID: 23001410, PMCID: PMC3549311.
Mangurian C, Cowan MJ. The missing vital sign. BMJ. 2013;347:f4163. PMID: 23833077, PMCID: PMC4688548.
Punwani D, Gonzalez-Espinosa D, Comeau AM, Dutra A, Pak E, Puck J. Cellular calibrators to quantitate T-cell receptor excision circles (TRECs) in clinical samples. Mol Genet Metab. 2012 Nov;107(3):586-91. doi: 10.1016/j.ymgme.2012.09.018. Epub 2012 Sep 21.
Chan SK, Shearer WT. HCT survival in ADA-SCID: what's the buzz?. Blood. Oct 25 2012;120 (17):3392-3393. PMID: 23100302. Pending PMCID.
Taylor PA, Kelly RM, Bade ND, Smith MJ, Stefanski HE, Blazar BR. FTY720 markedly increases alloengraftment but does not eliminate host anti-donor T cells that cause graft rejection on its withdrawal. Biol Blood Marrow Transplant. Sep 2012;18(9):1341-1352. PMID: 22728248, PMCID: PMC3520609.
Leechawengwongs E, Shearer WT. Lymphoma complicating primary immunodeficiency syndromes. Curr Opin Hematol. Jul 2012;19(4):305-312. PMID: 22525579. Pending PMCID.
Roberts JL, Buckley RH, Luo B, et al. CD45-deficient severe combined immunodeficiency caused by uniparental disomy. Proc Natl Acad Sci USA. Jun 26 2012;109(26):10456-10461. PMID: 22689986, PMCID: PMC3387083.
Puck JM. Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles. J Allergy Clin Immunol. 2012 Mar;129(3):607-16. doi: 10.1016/j.jaci.2012.01.032. Epub 2012 Jan 29.
Hanson IC, Shearer WT. Ruling out HIV infection when testing for severe combined immunodeficiency and other T-cell deficiencies. J Allergy Clin Immunol. Mar 2012;129(3):875-876 e875. PMID: 22386446. Pending PMCID.
Buckley RH. The long quest for neonatal screening for severe combined immunodeficiency. J Allergy Clin Immunol. Mar 2012;129(3):597-604; quiz 605-596. PMID: 22277203, PMCID: PMC3294102.
Chinen J, Shearer WT. Advances in basic and clinical immunology in 2011. J Allergy Clin Immunol. Feb 2012;129(2):342-348. PMID: 22206779, PMCID: PMC3279946.
Siberry GK, Leister E, Jacobson DL, et al. Increased risk of asthma and atopic dermatitis in perinatally HIV-infected children and adolescents. Clin Immunol. Feb 2012;142(2):201-208. PMID: 22094294, PMCID: PMC3273595.
Martinez CA, Shah S, Shearer WT, et al. Excellent survival after sibling or unrelated donor stem cell transplantation for chronic granulomatous disease. J Allergy Clin Immunol. Jan 2012;129(1):176-183. PMID: 22078471. Pending PMCID.
Recher M, Berglund LJ, Avery DT, Cowan MJ, Gennery AR, Smart J, Peake J, Wong M, Pai SY, Baxi S, Walter JE, Palendira U, Tangye GA, Rice M, Brothers S, Al-Herz W, Oettgen H, Eibel H, Puck JM, Cattaneo F, Ziegler JB, Giliani S, Tangye SG, Notarangelo LD. IL-21 is the primary common γ chain-binding cytokine required for human B-cell differentiation in vivo. Blood. 2011 Dec 22;118(26):6824-35. doi: 10.1182/blood-2011-06-362533. Epub 2011 Oct 28.
Puck JM. Neonatal screening for severe combined immunodeficiency. Curr Opin Pediatr. 2011 Dec;23(6):667-73. doi: 10.1097/MOP.0b013e32834cb9b0.
Puck JM. The case for newborn screening for severe combined immunodeficiency and related disorders. Ann N Y Acad Sci. 2011 Dec;1246:108-17. doi: 10.1111/j.1749-6632.2011.06346.x.
Tison BE, Nicholas SK, Abramson SL, et al. Autoimmunity in a cohort of 130 pediatric patients with partial DiGeorge syndrome. J Allergy Clin Immunol. Nov 2011;128(5):1115-1117 e1111-1113. PMID: 21835443. Pending PMCID.
Yu GP, Nadeau KC, Berk DR, de Saint Basile G, Lambert N, Knapnougel P, Roberts J, Kavanau K, Dunn E, Stiehm ER, Lewis DB, Umetsu DT, Puck JM, Cowan MJ. Genotype, phenotype, and outcomes of nine patients with T-B+NK+ SCID. Pediatr Transplant. 2011 Nov;15(7):733-41. doi: 10.1111/j.1399-3046.2011.01563.x. Epub 2011 Aug 23.
Marcus N, Takada H, Law J, Cowan MJ, Gil J, Regueiro JR, Plaza Lopez de Sabando D, Lopez-Granados E, Dalal J, Friedrich W, Manfred H, Hanson IC, Grunebaum E, Shearer WT, Roifman CM. Hematopoietic stem cell transplantation for CD3δ deficiency. J Allergy Clin Immunol. 2011 Nov;128(5):1050-7. doi: 10.1016/j.jaci.2011.05.031. Epub 2011 Jul 16.
Becker-Herman S, Meyer-Bahlburg A, Schwartz MA, Jackson SW, Hudkins KL, Liu C, Sather BD, Khim S, Liggitt D, Song W, Silverman GJ, Alpers CE, Rawlings DJ. WASp-deficient B cells play a critical, cell-intrinsic role in triggering autoimmunity. J Exp Med. Sep 26 2011;208(10):2033-2042. PMID: 21875954, PMCID: PMC3182055.
Moratto D, Giliani S, Bonfim C, Mazzolari E, Fischer A, Ochs HD, Cant AJ, Thrasher AJ, Cowan MJ, Albert MH, Small T, Pai SY, Haddad E, Lisa A, Hambleton S, Slatter M, Cavazzana-Calvo M, Mahlaoui N, Picard C, Torgerson TR, Burroughs L, Koliski A, Neto JZ, Porta F, Qasim W, Veys P, Kavanau K, Hönig M, Schulz A, Friedrich W, Notarangelo LD. Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study. Blood. 2011 Aug 11;118(6):1675-84. doi: 10.1182/blood-2010-11-319376. Epub 2011 Jun 9.
Nicholas S, Krance RA, Hanson IC, et al. Early versus delayed diagnosis of SCID: triumph versus tragedy. Clin Immunol. Jun 2011;139(3):360-362. PMID: 21497138. Pending PMCID.
Buckley RH. Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: longterm outcomes. Immunol Res. Apr 2011;49(1-3):25-43. PMID: 21116871, PMCID: PMC3798033.
Okocha IU, Hanson CG, Chinen J, Shearer WT. Decline of antibodies in XLA infant: when to start IVIG. Allergy. 2011 Mar;66(3):434-5. doi: 10.1111/j.1398-9995.2010.02481.x. Epub 2010 Sep 7.
Segal BH, Veys P, Malech H, Cowan MJ. Chronic granulomatous disease: lessons from a rare disorder. Biol Blood Marrow Transplant. 2011 Jan;17(1 Suppl):S123-31. doi: 10.1016/j.bbmt.2010.09.008.
Zemble R, Luning Prak E, McDonald K, McDonald-McGinn D, Zackai E, Sullivan K. Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Clin Immunol. 2010 Sep;136(3):409-18. doi: 10.1016/j.clim.2010.04.011. Epub 2010 May 15.
Walter JE, Rucci F, Patrizi L, Recher M, Regenass S, Paganini T, Keszei M, Pessach I, Lang PA, Poliani PL, Giliani S, Al-Herz W, Cowan MJ, Puck JM, Bleesing J, Niehues T, Schuetz C, Malech H, DeRavin SS, Facchetti F, Gennery AR, Andersson E, Kamani NR, Sekiguchi J, Alenezi HM, Chinen J, Dbaibo G, ElGhazali G, Fontana A, Pasic S, Detre C, Terhorst C, Alt FW, Notarangelo LD. Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency. J Exp Med. 2010 Jul 5;207(7):1541-54. doi: 10.1084/jem.20091927. Epub 2010 Jun 14.
Buckley RH. B-cell function in severe combined immunodeficiency after stem cell or gene therapy: a review. J Allergy Clin Immunol. Apr 2010;125(4):790-797. PMID: 20371393, PMCID: PMC2857969.
Chinen J, Shearer WT. Advances in basic and clinical immunology in 2009. J Allergy Clin Immunol. Mar 2010;125(3):563-568. PMID: 20226292, PMCID: PMC2841291.
Dvorak CC, Cowan MJ. Radiosensitive severe combined immunodeficiency disease. Immunol Allergy Clin North Am. 2010 Feb;30(1):125-42. doi: 10.1016/j.iac.2009.10.004.
Chinen J, Shearer WT. Secondary immunodeficiencies, including HIV infection. J Allergy Clin Immunol. 2010 Feb; 125(2 Suppl 2):S195-203. PMID: 20042227. Pending PMCID.
Griffith LM, Cowan MJ, Notarangelo LD, Puck JM, Buckley RH, Candotti F, Conley ME, Fleisher TA, Gaspar HB, Kohn DB, Ochs HD, O'Reilly RJ, Rizzo JD, Roifman CM, Small TN, Shearer WT; Workshop Participants. Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management. J Allergy Clin Immunol. 2009 Dec;124(6):1152-60.e12. doi: 10.1016/j.jaci.2009.10.022.
Railey MD, Lokhnygina Y, Buckley RH. Long-term clinical outcome of patients with severe combined immunodeficiency who received related donor bone marrow transplants without pretransplant chemotherapy or post-transplant GVHD prophylaxis. J Pediatr. Dec 2009;155(6):834-840 e831. PMID: 19818451, PMCID: PMC2784223.
Patel NC, Chinen J, Rosenblatt HM, et al. Outcomes of patients with severe combined immunodeficiency treated with hematopoietic stem cell transplantation with and without preconditioning. J Allergy Clin Immunol. Nov 2009;124(5):1062-1069 e1061-1064. PMID: 19895994, PMCID: PMC3271026.
Sarzotti-Kelsoe M, Win CM, Parrott RE, et al. Thymic output, T-cell diversity, and T-cell function in long-term human SCID chimeras. Blood. Aug 13 2009;114(7):1445-1453. PMID: 19433858, PMCID: PMC2727406.
Chinen J, Shearer WT. Advances in basic and clinical immunology in 2008. J Allergy Clin Immunol. Feb 2009;123(2):328-332. PMID: 19203657. Pending PMCID.
Griffith LM, Cowan MJ, Kohn DB, Notarangelo LD, Puck JM, Schultz KR, Buckley RH, Eapen M, Kamani NR, O'Reilly RJ, Parkman R, Roifman CM, Sullivan KE, Filipovich AH, Fleisher TA, Shearer WT. Allogeneic hematopoietic cell transplantation for primary immune deficiency diseases: current status and critical needs. J Allergy Clin Immunol. 2008 Dec;122(6):1087-96. doi: 10.1016/j.jaci.2008.09.045. Epub 2008 Nov 6.
Patel NC, Chinen J, Rosenblatt HM, et al. Long-term outcomes of nonconditioned patients with severe combined immunodeficiency transplanted with HLA-identical or haploidentical bone marrow depleted of T cells with anti-CD6 mAb. J Allergy Clin Immunol. Dec 2008;122(6):1185-1193. PMID: 19084111. Pending PMCID.
Shearer WT, Notarangelo LD, Griffith LM. Treatment of immunodeficiency: long-term outcome and quality of life. J Allergy Clin Immunol. Dec 2008;122(6):1065-1068. PMID: 19084107. Pending PMCID.
Olson HE, Costantini JG, Swanson LC, Kaufmann WE, Benke TA, Fulton AB, Hansen R, Poduri A, Heidary G. Cerebral visual impairment in CDKL5 deficiency disorder; vision as an outcome measure. Dev Med Child Neurol. Dev Med Child Neurol. 2021 Nov;63(11):1308-1315. doi: 10.1111/dmcn.14908. Epub 2021 May 24.
Saby JN, Benke TA, Peters SU, Standridge SM, Matsuzaki J, Cutri-French C, Swanson LC, Lieberman DN, Key AP, Percy AK, Neul JL, Nelson CA, Roberts TPL, Marsh ED. Multisite Study of Evoked Potentials in Rett Syndrome. Ann Neurol. Ann Neurol. 2021 Apr;89(4):790-802. doi: 10.1002/ana.26029. Epub 2021 Feb 4.
Kermani TA, Sreih AG, Cuthbertson D, Khalidi NA, Koening CL, Langford CA, McAlear CA, Monach PA, Moreland L, Pagnoux C, Rhee RL, Seo P, Warrington KJ, Merkel PA. Assessment of damage in Takayasu's arteritis. Rheumatology (Oxford). 2025 Feb 1;64(2):682-689. doi: 10.1093/rheumatology/keae333.
Cunningham KY, Hur B, Gupta VK, Koster MJ, Weyand CM, Cuthbertson D, Khalidi NA, Koening CL, Langford CA, McAlear CA, Monach PA, Moreland LW, Pagnoux C, Rhee RL, Seo P, Merkel PA, Warrington KJ, Sung J. Plasma proteome profiling in giant cell arteritis. Ann Rheum Dis. 2024 Nov 14;83(12):1762-1772. doi: 10.1136/ard-2024-225868.
Banerjee S, Rose E, Panicker S, Dugan J, Khalidi N, Koening CL, Langford CA, Monach PA, Pagnoux C, McAlear CA, Merkel PA; Vasculitis Clinical Research Consortium. Signal Regulatory Protein α Expression in Systemic Vasculitis. ACR Open Rheumatol. 2024 Jul 15. doi: 10.1002/acr2.11716. Online ahead of print.
Karadag O, Bolek EC, Ayan G, Mohammad AJ, Grayson PC, Pagnoux C, Martín-Nares E, Monti S, Abe Y, Alberici F, Alibaz-Oner F, Cuthbertson D, Dagna L, Direskeneli H, Khalidi NA, Koening C, Langford CA, McAlear CA, Monach PA, Moroni L, Padoan R, Seo P, Warrington KJ, Hocevar A, Hinojosa-Azaola A, Furuta S, Emmi G, Ozen S, Jayne D, Merkel PA; GLOBAL-PAN Collaborators. Clinical Characteristics and Outcomes of Polyarteritis Nodosa: An International Study. Arthritis Rheumatol. 2024 Feb 12. doi: 10.1002/art.42817. Online ahead of print.
Bloom JL, Pickett-Nairn K, Silveira L, Fuhlbrigge RC, Cuthbertson D, Akuthota P, Corbridge TC, Khalidi NA, Koening CL, Langford CA, McAlear CA, Monach PA, Moreland LW, Pagnoux C, Rhee RL, Seo P, Silver J, Specks U, Warrington KJ, Wechsler ME, Merkel PA; Vasculitis Clinical Research Consortium. The Association Between Age at Diagnosis and Disease Characteristics and Damage in Patients With ANCA-Associated Vasculitis. Arthritis Rheumatol. 2023 Dec;75(12):2216-2227. doi: 10.1002/art.42651. Epub 2023 Oct 5.
Michailidou D, Grayson PC, Hermanson P, Chapa JAG, Cuthbertson D, Khalidi NA, Koening CL, Langford CA, McAlear CA, Moreland LW, Pagnoux C, Seo P, Sreih AG, Warrington KJ, Monach PA, Merkel PA, Lood C. Mitochondrial-mediated inflammation and platelet activation in giant cell arteritis. Clin Immunol. 2023 Oct;255:109746. doi: 10.1016/j.clim.2023.109746. Epub 2023 Aug 23.
Almaani S, Song H, Suthanthira M, Toy C, Fussner LA, Meara A, Nagaraja H, Cuthbertson D, Khalidi NA, Koening CL, Langford CA, McAlear CA, Moreland LW, Pagnoux C, Seo P, Specks U, Sreih AG, Warrington KJ, Monach PA, Merkel PA, Rovin B, Birmingham D. Urine and Plasma Complement Ba Levels During Disease Flares in Patients With Antineutrophil Cytoplasmic Autoantibody-Associated Vasculitis. Kidney Int Rep. 2023 Aug 20;8(11):2421-2427. doi: 10.1016/j.ekir.2023.08.017. eCollection 2023 Nov.
Junek ML, Zhao L, Garner S, Cuthbertson D, Pagnoux C, Koening CL, Langford CA, McAlear CA, Monach PA, Moreland LW, Rhee RL, Seo P, Specks U, Sreih AG, Warrington K, Wechsler ME, Merkel PA, Khalidi NA. Ocular manifestations of ANCA-associated vasculitis. Rheumatology (Oxford). 2023 Jul 5;62(7):2517-2524. doi: 10.1093/rheumatology/keac663.
Smith RM, Jones RB, Specks U, Bond S, Nodale M, Al-Jayyousi R, Andrews J, Bruchfeld A, Camilleri B, Carette S, Cheung CK, Derebail V, Doulton T, Ferraro A, Forbess L, Fujimoto S, Furuta S, Gewurz-Singer O, Harper L, Ito-Ihara T, Khalidi N, Klocke R, Koening C, Komagata Y, Langford C, Lanyon P, Luqmani R, McAlear C, Moreland LW, Mynard K, Nachman P, Pagnoux C, Peh CA, Pusey C, Ranganathan D, Rhee RL, Spiera R, Sreih AG, Tesar V, Walters G, Wroe C, Jayne D, Merkel PA; RITAZAREM co-investigators.. Rituximab versus azathioprine for maintenance of remission for patients with ANCA-associated vasculitis and relapsing disease: an international randomised controlled trial. Ann Rheum Dis. 2023 Jul;82(7):937-944. doi: 10.1136/ard-2022-223559. Epub 2023 Mar 23.
Ortiz-Fernández L, Carmona EG, Kerick M, Lyons P, Carmona FD, López Mejías R, Khor CC, Grayson PC, Tombetti E, Jiang L, Direskeneli H, Saruhan-Direskeneli G, Callejas-Rubio JL, Vaglio A, Salvarani C, Hernández-Rodríguez J, Cid MC, Morgan AW, Merkel PA, Burgner D, Smith KG, Gonzalez-Gay MA, Sawalha AH, Martin J, Marquez A. Identification of new risk loci shared across systemic vasculitides points towards potential target genes for drug repurposing. Ann Rheum Dis. 2023 Jun;82(6):837-847. doi: 10.1136/ard-2022-223697. Epub 2023 Feb 16.
Michailidou D, Kuley R, Wang T, Hermanson P, Grayson PC, Cuthbertson D, Khalidi NA, Koening CL, Langford CA, McAlear CA, Moreland LW, Pagnoux C, Seo P, Specks U, Sreih AG, Warrington KJ, Monach PA, Merkel PA, Lood C. Neutrophil extracellular trap formation in anti-neutrophil cytoplasmic antibody-associated and large-vessel vasculitis. Clin Immunol. 2023 Apr;249:109274. doi: 10.1016/j.clim.2023.109274. Epub 2023 Mar 4.
Applequist J, Burroughs C, Merkel PA, Rothenberg M, Trapnell B, Desnick R, Sahin M, Krischer J. Direct-to-Consumer Recruitment Methods via Traditional and Social Media to Aid in Research Accrual for Clinical Trials for Rare Diseases: Comparative Analysis Study. J Med Internet Res. 2023 Mar 14;25:e39262. doi: 10.2196/39262.
Doubelt I, Cuthbertson D, Carette S, Khalidi NA, Koening CL, Langford C, McAlear CA, Moreland LW, Monach P, Seo P, Specks U, Warrington KJ, Merkel PA, Pagnoux C. Vitamin D status in ANCA-associated vasculitis. Rheumatol Adv Pract. 2023 Feb 10;7(1):rkad021. doi: 10.1093/rap/rkad021. eCollection 2023.PMID: 36874269.
Kermani TA, Cuthbertson D, Carette S, Khalidi NA, Koening CL, Langford CA, McAlear CA, Monach PA, Moreland L, Pagnoux C, Seo P, Specks U, Sreih A, Warrington KJ, Merkel PA; Vasculitis Clinical Research Consortium. Hypothyroidism in vasculitis. Rheumatology (Oxford). 2022 Jul 6;61(7):2942-2950. doi: 10.1093/rheumatology/keab817.
Michailidou D, Duvvuri B, Kuley R, Cuthbertson D, Grayson PC, Khalidi NA, Koening CL, Langford CA, McAlear CA, Moreland LW, Pagnoux C, Seo P, Specks U, Sreih AG, Warrington KJ, Mustelin T, Monach PA, Merkel PA, Lood C.. Neutrophil activation in patients with anti-neutrophil cytoplasmic autoantibody-associated vasculitis and large-vessel vasculitis. Arthritis Res Ther. 2022 Jun 29;24(1):160. doi: 10.1186/s13075-022-02849-z.
Doubelt I, Springer JM, Kermani TA, Sreih AG, Burroughs C, Cuthbertson D, Carette S, Khalidi NA, Koening CL, Langford C, McAlear CA, Moreland LW, Monach PA, Shaw DG, Seo P, Specks U, Warrington KJ, Young K, Merkel PA, Pagnoux C. Self-Reported Data and Physician-Reported Data in Patients With Eosinophilic Granulomatosis With Polyangiitis: Comparative Analysis. Interact J Med Res. 2022 May 25;11(1):e27273. doi: 10.2196/27273.PMID: 35612893.
Hatemi G, Meara A, Özgüler Y, Direskeneli H, Mahr A, Shea B, Cam E, Gul A, Yazici Y, Tugwell P, Yazici H, Merkel PA; Outcome Measures in Rheumatology Behçet's Syndrome Working Group. Core Set of Domains for Outcome Measures in Behçet's Syndrome. Arthritis Care Res (Hoboken). 2022 Apr;74(4):691-699. doi: 10.1002/acr.24511. Epub 2022 Mar 4.
Sattui SE, Conway R, Putman MS, Seet AM, Gianfrancesco MA, Beins K, Hill C, Liew D, Mackie SL, Mehta P, Neill L, Gomez G, Salinas MIH, Maldonado FN, Mariz HA, de Sousa Studart SA, Araujo NC, Knight A, Rozza D, Quartuccio L, Samson M, Bally S, Maria AT, Chazerain P, Hasseli R, Müller-Ladner U, Hoyer BF, Voll R, Torres RP, Luis M, Ribeirio SLE, Al-Emadi S, Sparks JA, Hsu TY, D'Silva KM, Patel NJ, Wise L, Gilbert E, Almada MV, Duarte-García A, Ugarte-Gil M, Jacobsohn L, Izadi Z, Strangfeld A, Mateus EF, Hyrich KL, Gossec L, Carmona L, Lawson-Tovey S, Kearsley-Fleet L, Schaefer M, Sirotich E, Hausmann JS, Sufka P, Bhana S, Liew JW, Grainger R, Machado PM, Wallace ZS, Yazdany J, Robinson PC; Global Rheumatology Alliance. Outcomes of COVID-19 in patients with primary systemic vasculitis or polymyalgia rheumatica from the COVID-19 Global Rheumatology Alliance physician registry: a retrospective cohort study. Lancet Rheumatol. 2021 Dec;3(12):e855-e864. doi: 10.1016/S2665-9913(21)00316-7. Epub 2021 Nov 5.
Monach PA, Warner RL, Lew R, Tómasson G, Specks U, Stone JH, Fervenza FC, Hoffman GS, Kallenberg CGM, Langford CA, Seo P, St Clair EW, Spiera R, Johnson KJ, Merkel PA. Serum Biomarkers of Disease Activity in Longitudinal Assessment of Patients with ANCA-Associated Vasculitis. ACR Open Rheumatol. 2021 Nov 18. doi: 10.1002/acr2.11366. Online ahead of print.
Monach PA, Branch-Elliman W. Reconsidering 'minimal risk' to expand the repertoire of trials with waiver of informed consent for research. BMJ Open. 2021 Sep 14;11(9):e048534. doi: 10.1136/bmjopen-2020-048534.
Mehta P, Sattui SE, van der Geest KSM, Brouwer E, Conway R, Putman MS, Robinson PC, Mackie SL. Giant Cell Arteritis and COVID-19: Similarities and Discriminators. A Systematic Literature Review. J Rheumatol. 2021 Jul;48(7):1053-1059. doi: 10.3899/jrheum.200766. Epub 2020 Oct 15.
Doubelt I, Cuthbertson D, Carette S, Chung SA, Forbess LJ, Khalidi NA, Koening CL, Langford C, McAlear CA, Moreland LW, Monach PA, Seo P, Specks U, Spiera RF, Springer JM, Sreih AG, Warrington KJ, Merkel PA, Pagnoux C; Vasculitis Clinical Research Consortium. Clinical Manifestations and Long-Term Outcomes of Eosinophilic Granulomatosis With Polyangiitis in North America. ACR Open Rheumatol. 2021 May 25. doi: 10.1002/acr2.11263. Online ahead of print.
Sreih AG, Cronin K, Shaw DG, Young K, Burroughs C, Kullman J, Machireddy K, McAlear CA, Merkel PA; Vasculitis Patient-Powered Research Network. Diagnostic delays in vasculitis and factors associated with time to diagnosis. Orphanet J Rare Dis. 2021 Apr 21;16(1):184. doi: 10.1186/s13023-021-01794-5.
Mustapha N, Barra L, Carette S, Cuthbertson D, Khalidi NA, Koening CL, Langford CA, McAlear CA, Milman N, Moreland LW, Monach PA, Seo P, Specks U, Sreih AG, Ytterberg SY, Merkel PA, Pagnoux C; Canadian Vasculitis Research Network (CanVasc) and Vasculitis Clinical Research Consortium (VCRC). Efficacy of leflunomide in the treatment of vasculitis. Clin Exp Rheumatol. 2021 Mar-Apr;39 Suppl 129(2):114-118. doi: 10.55563/clinexprheumatol/ve38dj. Epub 2020 Nov 10.PMID: 33200732.
Schnappauf O, Sampaio Moura N, Aksentijevich I, Stoffels M, Ombrello AK, Hoffmann P, Barron K, Remmers EF, Hershfield M, Kelly SJ; NISC Comparative Sequencing Program; Cuthbertson D, Carette S, Chung SA, Forbess L, Khalidi NA, Koening CL, Langford CA, McAlear CA, Monach PA, Moreland L, Pagnoux C, Seo P, Springer JM, Sreih AG, Warrington KJ, Ytterberg SR, Kastner DL, Grayson PC, Merkel PA; Vasculitis Clinical Research Consortium. Sequence-Based Screening of Patients With Idiopathic Polyarteritis Nodosa, Granulomatosis With Polyangiitis, and Microscopic Polyangiitis for Deleterious Genetic Variants in ADA2. Arthritis Rheumatol. 2021 Mar;73(3):512-519. doi: 10.1002/art.41549. Epub 2021 Feb 3.PMID: 33021335.
Robinette ML, Rao DA, Monach PA. The Immunopathology of Giant Cell Arteritis Across Disease Spectra. Front Immunol. 2021 Feb 25;12:623716. doi: 10.3389/fimmu.2021.623716. eCollection 2021.
Ortiz-Fernández L, Saruhan-Direskeneli G, Alibaz-Oner F, Kaymaz-Tahra S, Coit P, Kong X, Kiprianos AP, Maughan RT, Aydin SZ, Aksu K, Keser G, Kamali S, Inanc M, Springer J, Akar S, Onen F, Akkoc N, Khalidi NA, Koening C, Karadag O, Kiraz S, Forbess L, Langford CA, McAlear CA, Ozbalkan Z, Yavuz S, Çetin GY, Alpay-Kanitez N, Chung S, Ates A, Karaaslan Y, McKinnon-Maksimowicz K, Monach PA, Ozer HTE, Seyahi E, Fresko I, Cefle A, Seo P, Warrington KJ, Ozturk MA, Ytterberg SR, Cobankara V, Onat AM, Duzgun N, Bıcakcıgil M, Yentür SP, Lally L, Manfredi AA, Baldissera E, Erken E, Yazici A, Kısacık B, Kaşifoğlu T, Dalkilic E, Cuthbertson D, Pagnoux C, Sreih A, Reales G, Wallace C, Wren JD, Cunninghame-Graham DS, Vyse TJ, Sun Y, Chen H, Grayson PC, Tombetti E, Jiang L, Mason JC, Merkel PA, Direskeneli H, Sawalha AH. Identification of susceptibility loci for Takayasu arteritis through a large multi-ancestral genome-wide association study. Am J Hum Genet. 2021 Jan 7;108(1):84-99. doi: 10.1016/j.ajhg.2020.11.014. Epub 2020 Dec 11.
Mackie SL, Brouwer E, Conway R, van der Geest KSM, Mehta P, Mollan SP, Neill L, Putman M, Robinson PC, Sattui SE. Clinical pathways for patients with giant cell arteritis during the COVID-19 pandemic: an international perspective. Lancet Rheumatol. 2021 Jan;3(1):e71-e82. doi: 10.1016/S2665-9913(20)30386-6. Epub 2020 Dec 8.
Navarro-Millán I, Sattui SE, Lakhanpal A, Zisa D, Siegel CH, Crow MK. Use of Anakinra to Prevent Mechanical Ventilation in Severe COVID-19: A Case Series. Arthritis Rheumatol. 2020 Dec;72(12):1990-1997. doi: 10.1002/art.41422. Epub 2020 Nov 4.
Gribbons KB, Ponte C, Carette S, Craven A, Cuthbertson D, Hoffman GS, Khalidi NA, Koening CL, Langford CA, Maksimowicz-McKinnon K, McAlear CA, Monach PA, Moreland LW, Pagnoux C, Quinn KA, Robson JC, Seo P, Sreih AG, Suppiah R, Warrington KJ, Ytterberg SR, Luqmani R, Watts R, Merkel PA, Grayson PC. Patterns of Arterial Disease in Takayasu Arteritis and Giant Cell Arteritis. Arthritis Care Res (Hoboken). 2020 Nov;72(11):1615-1624. doi: 10.1002/acr.24055.
Smith RM, Jones RB, Specks U, Bond S, Nodale M, Aljayyousi R, Andrews J, Bruchfeld A, Camilleri B, Carette S, Cheung CK, Derebail V, Doulton T, Forbess L, Fujimoto S, Furuta S, Gewurz-Singer O, Harper L, Ito-Ihara T, Khalidi N, Klocke R, Koening C, Komagata Y, Langford C, Lanyon P, Luqmani RA, Makino H, McAlear CA, Monach P, Moreland LW, Mynard K, Nachman P, Pagnoux C, Pearce F, Peh CA, Pusey C, Ranganathan D, Rhee RL, Spiera R, Sreih AG, Tesar V, Walters G, Weisman MH, Wroe C, Merkel PA, Jayne D; RITAZAREM coinvestigators; RITAZAREM co-investigators. Rituximab as therapy to induce remission after relapse in ANCA-associated vasculitis. Ann Rheum Dis. 2020 Sep;79(9):1243-1249. doi: 10.1136/annrheumdis-2019-216863. Epub 2020 Jun 24.PMID: 32581088.
Quinn KA, Gribbons KB, Carette S, Cuthbertson D, Khalidi NA, Koening CL, Langford CA, McAlear CA, Monach PA, Moreland LW, Pagnoux C, Seo P, Sreih AG, Warrington KJ, Ytterberg SR, Novakovich E, Merkel PA, Grayson PC. Patterns of clinical presentation in Takayasu's arteritis. Semin Arthritis Rheum. 2020 Aug;50(4):576-581. doi: 10.1016/j.semarthrit.2020.04.012. Epub 2020 May 19.
Springer JM, Kermani TA, Sreih A, Shaw DG, Young K, Burroughs CM, Merkel PA. Clinical Characteristics of an Internet-Based Cohort of Patient-Reported Diagnosis of Granulomatosis With Polyangiitis and Microscopic Polyangiitis: Observational Study. J Med Internet Res. 2020 Jul 20;22(7):e17231. doi: 10.2196/17231.
Rodriguez-Pla A, Warner RL, Cuthbertson D, Carette S, Khalidi NA, Koening CL, Langford CA, McAlear CA, Moreland LW, Pagnoux C, Seo P, Specks U, Sreih AG, Ytterberg SR, Johnson KJ, Merkel PA, Monach PA; Vasculitis Clinical Research Consortium. Evaluation of Potential Serum Biomarkers of Disease Activity in Diverse Forms of Vasculitis. J Rheumatol. 2020 Jul 1;47(7):1001-1010. doi: 10.3899/jrheum.190093. Epub 2019 Sep 1.
Walsh M, Merkel PA, Jayne DRW. Plasma Exchange and Glucocorticoids in Severe ANCA-Associated Vasculitis. Reply. N Engl J Med. 2020 May 28;382(22):2169. doi: 10.1056/NEJMc2004843.
Goel R, Gribbons KB, Carette S, Cuthbertson D, Hoffman GS, Joseph G, Khalidi NA, Koening CL, Kumar S, Langford C, Maksimowicz-McKinnon K, McAlear CA, Monach PA, Moreland LW, Nair A, Pagnoux C, Quinn KA, Ravindran R, Seo P, Sreih AG, Warrington KJ, Ytterberg SR, Merkel PA, Danda D, Grayson PC. Derivation of an angiographically based classification system in Takayasu's arteritis: an observational study from India and North America. Rheumatology (Oxford). 2020 May 1;59(5):1118-1127. doi: 10.1093/rheumatology/kez421.
Micheletti RG, Pagnoux C, Tamura RN, Grayson PC, McAlear CA, Borchin R, Krischer JP, Merkel PA; Vasculitis Clinical Research Consortium. Protocol for a randomized multicenter study for isolated skin vasculitis (ARAMIS) comparing the efficacy of three drugs: azathioprine, colchicine, and dapsone. Trials. 2020 Apr 28;21(1):362. doi: 10.1186/s13063-020-04285-3.
Applequist J, Burroughs C, Ramirez A Jr, Merkel PA, Rothenberg ME, Trapnell B, Desnick RJ, Sahin M, Krischer JP. A novel approach to conducting clinical trials in the community setting: utilizing patient-driven platforms and social media to drive web-based patient recruitment. BMC Med Res Methodol. 2020 Mar 13;20(1):58. doi: 10.1186/s12874-020-00926-y.
Walsh M, Merkel PA, Peh CA, Szpirt WM, Puéchal X, Fujimoto S, Hawley CM, Khalidi N, Floßmann O, Wald R, Girard LP, Levin A, Gregorini G, Harper L, Clark WF, Pagnoux C, Specks U, Smyth L, Tesar V, Ito-Ihara T, de Zoysa JR, Szczeklik W, Flores-Suárez LF, Carette S, Guillevin L, Pusey CD, Casian AL, Brezina B, Mazzetti A, McAlear CA, Broadhurst E, Reidlinger D, Mehta S, Ives N, Jayne DRW; PEXIVAS Investigators. Plasma Exchange and Glucocorticoids in Severe ANCA-Associated Vasculitis. N Engl J Med. 2020 Feb 13;382(7):622-631. doi: 10.1056/NEJMoa1803537.
Moran SM, Monach PA, Zgaga L, Cuthbertson D, Carette S, Khalidi NA, Koening CL, Langford CA, McAlear CA, Moreland L, Pagnoux C, Seo P, Specks U, Sreih A, Wyse J, Ytterberg SR, Merkel PA, Little MA; Vasculitis Clinical Research Consortium. Urinary soluble CD163 and monocyte chemoattractant protein-1 in the identification of subtle renal flare in anti-neutrophil cytoplasmic antibody-associated vasculitis. Nephrol Dial Transplant. 2020 Feb 1;35(2):283-291. doi: 10.1093/ndt/gfy300.
Quinn KA, Rosenblum JS, Rimland CA, Gribbons KB, Ahlman MA, Grayson PC. Imaging acquisition technique influences interpretation of positron emission tomography vascular activity in large-vessel vasculitis. Semin Arthritis Rheum. 2020 Feb;50(1):71-76. doi: 10.1016/j.semarthrit.2019.07.008. Epub 2019 Jul 24.
Banerjee S, Quinn KA, Gribbons KB, Rosenblum JS, Civelek AC, Novakovich E, Merkel PA, Ahlman MA, Grayson PC. Effect of Treatment on Imaging, Clinical, and Serologic Assessments of Disease Activity in Large-vessel Vasculitis. J Rheumatol. 2020 Jan;47(1):99-107. doi: 10.3899/jrheum.181222. Epub 2019 Mar 15.
Quinn KA, Gelbard A, Sibley C, Sirajuddin A, Ferrada MA, Chen M, Cuthbertson D, Carette S, Khalidi NA, Koening CL, Langford CA, McAlear CA, Monach PA, Moreland LW, Pagnoux C, Seo P, Specks U, Sreih AG, Ytterberg SR, Merkel PA, Grayson PC. Subglottic stenosis and endobronchial disease in granulomatosis with polyangiitis. Rheumatology (Oxford). 2019 Dec 1;58(12):2203-2211. doi: 10.1093/rheumatology/kez217.
Berti A, Warner R, Johnson K, Cornec D, Schroeder DR, Kabat BF, Langford CA, Kallenberg CGM, Seo P, Spiera RF, St Clair EW, Fervenza FC, Stone JH, Monach PA, Specks U, Merkel PA; RAVE-ITN Research Group. The association of serum interleukin-6 levels with clinical outcomes in antineutrophil cytoplasmic antibody-associated vasculitis. J Autoimmun. 2019 Dec;105:102302. doi: 10.1016/j.jaut.2019.07.001. Epub 2019 Jul 15.
Wallace ZS, Fu X, Liao K, Kallenberg CGM, Langford CA, Merkel PA, Monach P, Seo P, Specks U, Spiera R, St Clair EW, Zhang Y, Choi H, Stone JH. Disease Activity, Antineutrophil Cytoplasmic Antibody Type, and Lipid Levels in Antineutrophil Cytoplasmic Antibody-Associated Vasculitis. Arthritis Rheumatol. 2019 Nov;71(11):1879-1887. doi: 10.1002/art.41006. Epub 2019 Sep 16.
Ozguler Y, Merkel PA, Gurcan M, Bocage C, Eriksen W, Kutlubay Z, Hatemi G, Cronholm PF; OMERACT Behçet's Syndrome Working Group. Patients' experiences with Behçet's syndrome: structured interviews among patients with different types of organ involvement. Clin Exp Rheumatol. 2019 Nov-Dec;37 Suppl 121(6):28-34. Epub 2019 Apr 12.
Milman N, McConville E, Robson JC, Boonen A, Tugwell P, Wells GA, Chaudhuri D, Dawson J, Tomasson G, Ashdown S, Gebhart D, Lanier G, Peck J, McAlear CA, Kellom KS, Cronholm PF, Merkel PA. Updating OMERACT Core Set of Domains for ANCA-associated Vasculitis: Patient Perspective Using the International Classification of Function, Disability, and Health. J Rheumatol. 2019 Oct;46(10):1415-1420. doi: 10.3899/jrheum.181073. Epub 2019 Feb 1.
Aydin SZ, Robson JC, Sreih AG, Hill C, Alibaz-Oner F, Mackie S, Beard S, Gul A, Hatemi G, Kermani TA, Mahr A, Meara A, Milman N, Shea B, Tómasson G, Tugwell P, Direskeneli H, Merkel PA. Update on Outcome Measure Development in Large-vessel Vasculitis: Report from OMERACT 2018. J Rheumatol. 2019 Sep;46(9):1198-1201. doi: 10.3899/jrheum.181072. Epub 2019 Mar 15.
Tomasson G, Farrar JT, Cuthbertson D, McAlear CA, Ashdown S, Cronholm PF, Dawson J, Gebhart D, Lanier G, Luqmani RA, Milman N, Peck J, Robson JC, Shea JA, Carette S, Khalidi N, Koening CL, Langford CA, Monach PA, Moreland L, Pagnoux C, Specks U, Sreih AG, Ytterberg SR, Merkel PA; Vasculitis Clinical Research Consortium. Feasibility and Construct Validation of the Patient Reported Outcomes Measurement Information System in Systemic Vasculitis. J Rheumatol. 2019 Aug;46(8):928-934. doi: 10.3899/jrheum.171405. Epub 2019 Mar 1.
Taroni JN, Grayson PC, Hu Q, Eddy S, Kretzler M, Merkel PA, Greene CS. MultiPLIER: A Transfer Learning Framework for Transcriptomics Reveals Systemic Features of Rare Disease. Cell Syst. 2019 May 22;8(5):380-394.e4. doi: 10.1016/j.cels.2019.04.003.
Pagnoux C, Nair P, Xi Y, Khalidi NA, Carette S, Cuthbertson D, Grayson PC, Koening CL, Langford CA, McAlear CA, Moreland LW, Monach PA, Seo P, Specks U, Sreih AG, Ytterberg SR, Tyrrell PN, Merkel PA; Vasculitis Clinical Research Consortium. Serum cytokine and chemokine levels in patients with eosinophilic granulomatosis with polyangiitis, hypereosinophilic syndrome, or eosinophilic asthma. Clin Exp Rheumatol. 2019 Mar-Apr;37 Suppl 117(2):40-44. Epub 2019 Jan 14.
Lee KS, Kronbichler A, Pereira Vasconcelos DF, Pereira da Silva FR, Ko Y, Oh YS, Eisenhut M, Merkel PA, Jayne D, Amos CI, Siminovitch KA, Rahmattulla C, Lee KH, Shin JI. Genetic Variants in Antineutrophil Cytoplasmic Antibody-Associated Vasculitis: A Bayesian Approach and Systematic Review. J Clin Med. 2019 Feb 21;8(2):266. doi: 10.3390/jcm8020266.
Kermani TA, Diab S, Sreih AG, Cuthbertson D, Borchin R, Carette S, Forbess L, Koening CL, McAlear CA, Monach PA, Moreland L, Pagnoux C, Seo P, Spiera RF, Warrington KJ, Ytterberg SR, Langford CA, Merkel PA, Khalidi NA; Vasculitis Clinical Research Consortium. Arterial lesions in giant cell arteritis: A longitudinal study. Semin Arthritis Rheum. 2019 Feb;48(4):707-713. doi: 10.1016/j.semarthrit.2018.05.002. Epub 2018 May 9.
Young K, Kaminstein D, Olivos A, Burroughs C, Castillo-Lee C, Kullman J, McAlear C, Shaw DG, Sreih A, Casey G; Vasculitis Patient-Powered Research Network, Merkel PA. Patient involvement in medical research: what patients and physicians learn from each other. Orphanet J Rare Dis. 2019 Jan 24;14(1):21. doi: 10.1186/s13023-018-0969-1.
Sreih AG, Ezzedine R, Leng L, Fan J, Yao J, Reid D, Piecychna M, Carette S, Cuthbertson D, Dellaripa P, Hoffman GS, Khalidi NA, Koening CL, Langford CA, Mahr A, McAlear CA, Maksimowicz-Mckinnon K, Monach PA, Seo P, Specks U, St Clair EW, Stone JH, Ytterberg SR, Edberg J, Merkel PA, Bucala R. Role of Macrophage Migration Inhibitory Factor in Granulomatosis With Polyangiitis. Arthritis Rheumatol. 2018 Dec;70(12):2077-2086. doi: 10.1002/art.40655. Epub 2018 Oct 22.
Conklin LS, Merkel PA, Pachman LM, Parikh H, Tawalbeh S, Damsker JM, Cuthbertson DD, Morgan GA, Monach PA, Hathout Y, Nagaraju K, van den Anker J, McAlear CA, Hoffman EP. Serum biomarkers of glucocorticoid response and safety in anti-neutrophil cytoplasmic antibody-associated vasculitis and juvenile dermatomyositis. Steroids. 2018 Dec;140:159-166. doi: 10.1016/j.steroids.2018.10.008. Epub 2018 Oct 21.
Rhee RL, Holweg CTJ, Wong K, Cuthbertson D, Carette S, Khalidi NA, Koening CL, Langford CA, McAlear CA, Monach PA, Moreland LW, Pagnoux C, Seo P, Specks U, Sreih AG, Ytterberg SR, Merkel PA; Vasculitis Clinical Research Consortium. Serum periostin as a biomarker in eosinophilic granulomatosis with polyangiitis. PLoS One. 2018 Oct 11;13(10):e0205768. doi: 10.1371/journal.pone.0205768. eCollection 2018.
Springer JM, Monach P, Cuthbertson D, Carette S, Khalidi NA, McAlear CA, Pagnoux C, Seo P, Warrington KJ, Ytterberg SR, Hoffman G, Langford C, Hamilton T, Foell D, Vogl T, Holzinger D, Merkel PA, Roth J, Hajj-Ali RA. Serum S100 Proteins as a Marker of Disease Activity in Large Vessel Vasculitis. J Clin Rheumatol. 2018 Oct;24(7):393-395. doi: 10.1097/RHU.0000000000000729.
Quinn KA, Ahlman MA, Malayeri AA, Marko J, Civelek AC, Rosenblum JS, Bagheri AA, Merkel PA, Novakovich E, Grayson PC. Comparison of magnetic resonance angiography and (18)F-fluorodeoxyglucose positron emission tomography in large-vessel vasculitis. Ann Rheum Dis. 2018 Aug;77(8):1165-1171. doi: 10.1136/annrheumdis-2018-213102. Epub 2018 Apr 17.
Robson JC, Dawson J, Doll H, Cronholm PF, Milman N, Kellom K, Ashdown S, Easley E, Gebhart D, Lanier G, Mills J, Peck J, Luqmani RA, Shea J, Tomasson G, Merkel PA. Validation of the ANCA-associated vasculitis patient-reported outcomes (AAV-PRO) questionnaire. Ann Rheum Dis. 2018 Aug;77(8):1157-1164. doi: 10.1136/annrheumdis-2017-212713. Epub 2018 Apr 25.
Berti A, Warner R, Johnson K, Cornec D, Schroeder D, Kabat B, Langford CA, Hoffman GS, Fervenza FC, Kallenberg CGM, Seo P, Spiera R, St Clair EW, Brunetta P, Stone JH, Merkel PA, Specks U, Monach PA; RAVE-ITN Research Group. Brief Report: Circulating Cytokine Profiles and Antineutrophil Cytoplasmic Antibody Specificity in Patients With Antineutrophil Cytoplasmic Antibody-Associated Vasculitis. Arthritis Rheumatol. 2018 Jul;70(7):1114-1121. doi: 10.1002/art.40471. Epub 2018 May 7.
Byram K, Hajj-Ali RA, Calabrese L. CNS Vasculitis: an Approach to Differential Diagnosis and Management. Curr Rheumatol Rep. 2018 May 30;20(7):37. doi: 10.1007/s11926-018-0747-z.
Ortiz-Fernández L, Carmona FD, López-Mejías R, González-Escribano MF, Lyons PA, Morgan AW, Sawalha AH, Merkel PA, Smith KGC, González-Gay MA, Martín J; Spanish GCA Study Group, UK GCA Consortium, Turkish Takayasu Study Group, Vasculitis Clinical Research Consortium, IgAV Study Group, AAV Study group. Cross-phenotype analysis of Immunochip data identifies KDM4C as a relevant locus for the development of systemic vasculitis. Ann Rheum Dis. 2018 Apr;77(4):589-595. doi: 10.1136/annrheumdis-2017-212372. Epub 2018 Jan 27.
Robson JC, Dawson J, Cronholm PF, Ashdown S, Easley E, Kellom KS, Gebhart D, Lanier G, Milman N, Peck J, Luqmani RA, Shea JA, Tomasson G, Merkel PA. Patient perceptions of glucocorticoids in anti-neutrophil cytoplasmic antibody-associated vasculitis. Rheumatol Int. 2018 Apr;38(4):675-682. doi: 10.1007/s00296-017-3855-6. Epub 2017 Nov 9.
Grayson PC, Alehashemi S, Bagheri AA, Civelek AC, Cupps TR, Kaplan MJ, Malayeri AA, Merkel PA, Novakovich E, Bluemke DA, Ahlman MA. (18) F-Fluorodeoxyglucose-Positron Emission Tomography As an Imaging Biomarker in a Prospective, Longitudinal Cohort of Patients With Large Vessel Vasculitis. Arthritis Rheumatol. 2018 Mar;70(3):439-449. doi: 10.1002/art.40379. Epub 2018 Feb 6.
Barra L, Borchin RL, Burroughs C, Casey GC, McAlear CA, Sreih AG, Young K, Merkel PA, Pagnoux C; Vasculitis Clinical Research Consortium and the Vasculitis Patient-Powered Research Network. Impact of vasculitis on employment and income. Clin Exp Rheumatol. 2018 Mar-Apr;36 Suppl 111(2):58-64. Epub 2018 Jan 10.
Kermani TA, Sreih AG, Cuthbertson D, Carette S, Hoffman GS, Khalidi NA, Koening CL, Langford CA, McAlear CA, Monach PA, Moreland L, Pagnoux C, Seo P, Warrington KJ, Ytterberg SR, Merkel PA; Vasculitis Clinical Research Consortium. Evaluation of damage in giant cell arteritis. Rheumatology (Oxford). 2018 Feb 1;57(2):322-328. doi: 10.1093/rheumatology/kex397.
Robson JC, Dawson J, Cronholm PF, Milman N, Kellom KS, Ashdown S, Easley E, Farrar JT, Gebhart D, Lanier G, McAlear CA, Peck J, Luqmani RA, Shea JA, Tomasson G, Merkel PA. Health-related quality of life in ANCA-associated vasculitis and item generation for a disease-specific patient-reported outcome measure. Patient Relat Outcome Meas. 2018 Jan 4;9:17-34. doi: 10.2147/PROM.S144992. eCollection 2018.
Grayson PC, Eddy S, Taroni JN, Lightfoot YL, Mariani L, Parikh H, Lindenmeyer MT, Ju W, Greene CS, Godfrey B, Cohen CD, Krischer J, Kretzler M, Merkel PA; Vasculitis Clinical Research Consortium, the European Renal cDNA Bank cohort, and the Nephrotic Syndrome Study Network. Metabolic pathways and immunometabolism in rare kidney diseases. Ann Rheum Dis. 2018;77:1226-33. doi: 10.1136/annrheumdis-2017-212935. PMID: 29724730; PMCID: PMC6045442.
Aydin SZ, Direskeneli H, Merkel PA; International Delphi on Disease Activity Assessment in Large-vessel Vasculitis. Assessment of Disease Activity in Large-vessel Vasculitis: Results of an International Delphi Exercise. J Rheumatol. 2017 Dec;44(12):1928-1932. doi: 10.3899/jrheum.161269. Epub 2017 Sep 1.
Sreih AG, Alibaz-Oner F, Kermani TA, Aydin SZ, Cronholm PF, Davis T, Easley E, Gul A, Mahr A, McAlear CA, Milman N, Robson JC, Tomasson G, Direskeneli H, Merkel PA. Development of a Core Set of Outcome Measures for Large-vessel Vasculitis: Report from OMERACT 2016. J Rheumatol. 2017 Dec;44(12):1933-1937. doi: 10.3899/jrheum.161467. Epub 2017 Sep 1.
Hatemi G, Meara A, Ozguler Y, Direskeneli H, Mahr A, Easley E, Gurcan M, Davis T, Gul A, Yazici Y, Zottenberg K, Esatoglu SN, Erer B, Kamali S, Yazici H, Cronholm PF, Merkel PA. Developing a Core Set of Outcome Measures for Behçet Disease: Report from OMERACT 2016. J Rheumatol. 2017 Nov;44(11):1750-1753. doi: 10.3899/jrheum.161352. Epub 2017 Apr 1.
Robson JC, Tomasson G, Milman N, Ashdown S, Boonen A, Casey GC, Cronholm PF, Cuthbertson D, Dawson J, Direskeneli H, Easley E, Kermani TA, Farrar JT, Gebhart D, Lanier G, Luqmani RA, Mahr A, McAlear CA, Peck J, Shea B, Shea JA, Sreih AG, Tugwell PS, Merkel PA. OMERACT Endorsement of Patient-reported Outcome Instruments in Antineutrophil Cytoplasmic Antibody-associated Vasculitis. J Rheumatol. 2017 Oct;44(10):1529-1535. doi: 10.3899/jrheum.161139. Epub 2017 Sep 1.
Mackie SL, Twohig H, Neill LM, Harrison E, Shea B, Black RJ, Kermani TA, Merkel PA, Mallen CD, Buttgereit F, Mukhtyar C, Simon LS, Hill CL; OMERACT PMR Working Group. The OMERACT Core Domain Set for Outcome Measures for Clinical Trials in Polymyalgia Rheumatica. J Rheumatol. 2017 Oct;44(10):1515-1521. doi: 10.3899/jrheum.161109. Epub 2017 Aug 1.
Merkel PA, Xie G, Monach PA, Ji X, Ciavatta DJ, Byun J, Pinder BD, Zhao A, Zhang J, Tadesse Y, Qian D, Weirauch M, Nair R, Tsoi A, Pagnoux C, Carette S, Chung S, Cuthbertson D, Davis JC Jr, Dellaripa PF, Forbess L, Gewurz-Singer O, Hoffman GS, Khalidi N, Koening C, Langford CA, Mahr AD, McAlear C, Moreland L, Seo EP, Specks U, Spiera RF, Sreih A, St Clair EW, Stone JH, Ytterberg SR, Elder JT, Qu J, Ochi T, Hirano N, Edberg JC, Falk RJ, Amos CI, Siminovitch KA; Vasculitis Clinical Research Consortium. Identification of Functional and Expression Polymorphisms Associated With Risk for Antineutrophil Cytoplasmic Autoantibody-Associated Vasculitis. Arthritis Rheumatol. 2017 May;69(5):1054-1066. doi: 10.1002/art.40034. Epub 2017 Apr 6.
Langford CA, Cuthbertson D, Ytterberg SR, Khalidi N, Monach PA, Carette S, Seo P, Moreland LW, Weisman M, Koening CL, Sreih AG, Spiera R, McAlear CA, Warrington KJ, Pagnoux C, McKinnon K, Forbess LJ, Hoffman GS, Borchin R, Krischer JP, Merkel PA; Vasculitis Clinical Research Consortium. A Randomized, Double-Blind Trial of Abatacept (CTLA-4Ig) for the Treatment of Giant Cell Arteritis. Arthritis Rheumatol. 2017 Apr;69(4):837-845. doi: 10.1002/art.40044. Epub 2017 Mar 3.
Langford CA, Cuthbertson D, Ytterberg SR, Khalidi N, Monach PA, Carette S, Seo P, Moreland LW, Weisman M, Koening CL, Sreih AG, Spiera R, McAlear CA, Warrington KJ, Pagnoux C, McKinnon K, Forbess LJ, Hoffman GS, Borchin R, Krischer JP, Merkel PA; Vasculitis Clinical Research Consortium. A Randomized, Double-Blind Trial of Abatacept (CTLA-4Ig) for the Treatment of Takayasu Arteritis. Arthritis Rheumatol. 2017 Apr;69(4):846-853. doi: 10.1002/art.40037. Epub 2017 Mar 8.
Carmona FD, Coit P, Saruhan-Direskeneli G, Hernández-Rodríguez J, Cid MC, Solans R, Castañeda S, Vaglio A, Direskeneli H, Merkel PA, Boiardi L, Salvarani C, González-Gay MA, Martín J, Sawalha AH; Spanish GCA Study Group; Italian GCA Study Group; Turkish Takayasu Study Group; Vasculitis Clinical Research Consortium. Analysis of the common genetic component of large-vessel vasculitides through a meta-Immunochip strategy. Sci Rep. 2017 Mar 9;7:43953. doi: 10.1038/srep43953.
Gopaluni S, Smith RM, Lewin M, McAlear CA, Mynard K, Jones RB, Specks U, Merkel PA, Jayne DR; RITAZAREM Investigators. Rituximab versus azathioprine as therapy for maintenance of remission for anti-neutrophil cytoplasm antibody-associated vasculitis (RITAZAREM): study protocol for a randomized controlled trial. Trials. 2017 Mar 7;18(1):112. doi: 10.1186/s13063-017-1857-z.
Milman N, Boonen A, Tugwell P, Merkel PA; OMERACT Vasculitis Working Group. Clinicians' perspective on key domains in ANCA-associated vasculitis: a Delphi exercise. Scand J Rheumatol. 2017 Mar;46(2):112-117. doi: 10.1080/03009742.2016.1188980. Epub 2016 Jul 20.
Soowamber M, Weizman AV, Pagnoux C. Gastrointestinal aspects of vasculitides. Nat Rev Gastroenterol Hepatol. 2017 Mar;14(3):185-194. doi: 10.1038/nrgastro.2016.179. Epub 2016 Nov 23.
Oommen E, Hummel A, Allmannsberger L, Cuthbertson D, Carette S, Pagnoux C, Hoffman GS, Jenne DE, Khalidi NA, Koening CL, Langford CA, McAlear CA, Moreland L, Seo P, Sreih A, Ytterberg SR, Merkel PA, Specks U, Monach PA; Vasculitis Clinical Research Consortium. IgA antibodies to myeloperoxidase in patients with eosinophilic granulomatosis with polyangiitis (Churg-Strauss). Clin Exp Rheumatol. 2017 Mar-Apr;35 Suppl 103(1):98-101. Epub 2017 Mar 1.
Krischer J, Cronholm PF, Burroughs C, McAlear CA, Borchin R, Easley E, Davis T, Kullman J, Carette S, Khalidi N, Koening C, Langford CA, Monach P, Moreland L, Pagnoux C, Specks U, Sreih AG, Ytterberg S, Merkel PA; Vasculitis Clinical Research Consortium. Experience With Direct-to-Patient Recruitment for Enrollment Into a Clinical Trial in a Rare Disease: A Web-Based Study. J Med Internet Res. 2017 Feb 28;19(2):e50. doi: 10.2196/jmir.6798.
Selewski DT, Thompson A, Kovacs S, Papadopoulos EJ, Carlozzi NE, Trachtman H, Troost JP, Merkel PA, Gipson DS. Patient-Reported Outcomes in Glomerular Disease. Clin J Am Soc Nephrol. 2017 Jan 6;12(1):140-148. doi: 10.2215/CJN.13231215. Epub 2016 Jun 3.
Carmona FD, Vaglio A, Mackie SL, Hernández-Rodríguez J, Monach PA, Castañeda S, Solans R, Morado IC, Narváez J, Ramentol-Sintas M, Pease CT, Dasgupta B, Watts R, Khalidi N, Langford CA, Ytterberg S, Boiardi L, Beretta L, Govoni M, Emmi G, Bonatti F, Cimmino MA, Witte T, Neumann T, Holle J, Schönau V, Sailler L, Papo T, Haroche J, Mahr A, Mouthon L, Molberg Ø, Diamantopoulos AP, Voskuyl A, Brouwer E, Daikeler T, Berger CT, Molloy ES, O'Neill L, Blockmans D, Lie BA, Mclaren P, Vyse TJ, Wijmenga C, Allanore Y, Koeleman BPC; Spanish CGA Group; UKGCA Consortium; Vasculitis Clinical Research Consortium, Barrett JH, Cid MC, Salvarani C, Merkel PA, Morgan AW, González-Gay MA, Martín J. A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis. Am J Hum Genet. 2017 Jan 5;100(1):64-74. doi: 10.1016/j.ajhg.2016.11.013. Epub 2016 Dec 29.
Sreih AG, Annapureddy N, Springer J, Casey G, Byram K, Cruz A, Estephan M, Frangiosa V, George MD, Liu M, Parker A, Sangani S, Sharim R, Merkel PA; Vasculitis Patient-Powered Research Network. Development and validation of case-finding algorithms for the identification of patients with anti-neutrophil cytoplasmic antibody-associated vasculitis in large healthcare administrative databases. Pharmacoepidemiol Drug Saf. 2016 Dec;25(12):1368-1374. doi: 10.1002/pds.4116. Epub 2016 Nov 1.
Bingham CO 3rd, Bartlett SJ, Merkel PA, Mielenz TJ, Pilkonis PA, Edmundson L, Moore E, Sabharwal RK. Using patient-reported outcomes and PROMIS in research and clinical applications: experiences from the PCORI pilot projects. Qual Life Res. 2016 Aug;25(8):2109-16. doi: 10.1007/s11136-016-1246-1. Epub 2016 Feb 25.
Saleh M, Turesson C, Englund M, Merkel PA, Mohammad AJ. Visual Complications in Patients with Biopsy-proven Giant Cell Arteritis: A Population-based Study. J Rheumatol. 2016 Aug;43(8):1559-65. doi: 10.3899/jrheum.151033. Epub 2016 Jun 1.
Kermani TA, Cuthbertson D, Carette S, Hoffman GS, Khalidi NA, Koening CL, Langford CA, McKinnon-Maksimowicz K, McAlear CA, Monach PA, Seo P, Warrington KJ, Ytterberg SR, Merkel PA, Matteson EL; Vasculitis Clinical Research Consortium. The Birmingham Vasculitis Activity Score as a Measure of Disease Activity in Patients with Giant Cell Arteritis. J Rheumatol. 2016 Jun;43(6):1078-84. doi: 10.3899/jrheum.151063. Epub 2016 Apr 1.
Merkel PA, Manion M, Gopal-Srivastava R, Groft S, Jinnah HA, Robertson D, Krischer JP; Rare Diseases Clinical Research Network. The partnership of patient advocacy groups and clinical investigators in the rare diseases clinical research network. Orphanet J Rare Dis. 2016 May 18;11(1):66. doi: 10.1186/s13023-016-0445-8.
Sy A, Khalidi N, Dehghan N, Barra L, Carette S, Cuthbertson D, Hoffman GS, Koening CL, Langford CA, McAlear C, Moreland L, Monach PA, Seo P, Specks U, Sreih A, Ytterberg SR, Van Assche G, Merkel PA, Pagnoux C; Vasculitis Clinical Research Consortium (VCRC); Canadian Vasculitis Network (CanVasc). Vasculitis in patients with inflammatory bowel diseases: A study of 32 patients and systematic review of the literature. Semin Arthritis Rheum. 2016 Feb;45(4):475-82. doi: 10.1016/j.semarthrit.2015.07.006. Epub 2015 Jul 26.
Tamura RN, Krischer JP, Pagnoux C, Micheletti R, Grayson PC, Chen YF, Merkel PA. A small n sequential multiple assignment randomized trial design for use in rare disease research. Contemp Clin Trials. 2016 Jan;46:48-51. doi: 10.1016/j.cct.2015.11.010. Epub 2015 Nov 14.
Hatemi G, Ozguler Y, Direskeneli H, Mahr A, Gul A, Levi V, Aydin SZ, Mumcu G, Sertel-Berk O, Stevens RM, Yazici H, Merkel PA. Current Status, Goals, and Research Agenda for Outcome Measures Development in Behçet Syndrome: Report from OMERACT 2014. J Rheumatol. 2015 Dec;42(12):2436-41. doi: 10.3899/jrheum.141147. Epub 2015 Sep 15.
Aydin SZ, Direskeneli H, Sreih A, Alibaz-Oner F, Gul A, Kamali S, Hatemi G, Kermani T, Mackie SL, Mahr A, Meara A, Milman N, Nugent H, Robson J, Tomasson G, Merkel PA. Update on Outcome Measure Development for Large Vessel Vasculitis: Report from OMERACT 12. J Rheumatol. 2015 Dec;42(12):2465-9. doi: 10.3899/jrheum.141144. Epub 2015 Jun 15.
Robson JC, Milman N, Tomasson G, Dawson J, Cronholm PF, Kellom K, Shea J, Ashdown S, Boers M, Boonen A, Casey GC, Farrar JT, Gebhart D, Krischer J, Lanier G, McAlear CA, Peck J, Sreih AG, Tugwell PS, Luqmani RA, Merkel PA. Exploration, Development, and Validation of Patient-reported Outcomes in Antineutrophil Cytoplasmic Antibody-associated Vasculitis Using the OMERACT Process. J Rheumatol. 2015 Nov;42(11):2204-9. doi: 10.3899/jrheum.141143. Epub 2015 Sep 1.
Grayson PC, Monach PA, Pagnoux C, Cuthbertson D, Carette S, Hoffman GS, Khalidi NA, Koening CL, Langford CA, Maksimowicz-McKinnon K, Seo P, Specks U, Ytterberg SR, Merkel PA; Vasculitis Clinical Research Consortium. Value of commonly measured laboratory tests as biomarkers of disease activity and predictors of relapse in eosinophilic granulomatosis with polyangiitis. Rheumatology (Oxford). 2015 Aug;54(8):1351-9. doi: 10.1093/rheumatology/keu427. Epub 2014 Nov 17.
Kermani TA, Warrington KJ, Cuthbertson D, Carette S, Hoffman GS, Khalidi NA, Koening CL, Langford CA, Maksimowicz-McKinnon K, McAlear CA, Monach PA, Seo P, Merkel PA, Ytterberg SR; Vasculitis Clinical Research Consortium. Disease Relapses among Patients with Giant Cell Arteritis: A Prospective, Longitudinal Cohort Study. J Rheumatol. 2015 Jul;42(7):1213-7. doi: 10.3899/jrheum.141347. Epub 2015 Apr 15.
Grayson PC, Carmona-Rivera C, Xu L, Lim N, Gao Z, Asare AL, Specks U, Stone JH, Seo P, Spiera RF, Langford CA, Hoffman GS, Kallenberg CG, St Clair EW, Tchao NK, Ytterberg SR, Phippard DJ, Merkel PA, Kaplan MJ, Monach PA; Rituximab in ANCA-Associated Vasculitis-Immune Tolerance Network Research Group. Neutrophil-Related Gene Expression and Low-Density Granulocytes Associated With Disease Activity and Response to Treatment in Antineutrophil Cytoplasmic Antibody-Associated Vasculitis. Arthritis Rheumatol. 2015 Jul;67(7):1922-32. doi: 10.1002/art.39153.
McGeoch L, Carette S, Cuthbertson D, Hoffman GS, Khalidi N, Koening CL, Langford CA, McAlear CA, Moreland L, Monach PA, Seo P, Specks U, Ytterberg SR, Merkel PA, Pagnoux C; Vasculitis Clinical Research Consortium. Cardiac Involvement in Granulomatosis with Polyangiitis. J Rheumatol. 2015 Jul;42(7):1209-12. doi: 10.3899/jrheum.141513. Epub 2015 May 1.
Grayson PC, Steiling K, Platt M, Berman JS, Zhang X, Xiao J, Alekseyev YO, Liu G, Monach PA, Kaplan MJ, Spira A, Merkel PA. Defining the nasal transcriptome in granulomatosis with polyangiitis (Wegener's). Arthritis Rheumatol. 2015 May;67(8):2233-9. doi: 10.1002/art.39185.
Renauer PA, Saruhan-Direskeneli G, Coit P, Adler A, Aksu K, Keser G, Alibaz-Oner F, Aydin SZ, Kamali S, Inanc M, Carette S, Cuthbertson D, Hoffman GS, Akar S, Onen F, Akkoc N, Khalidi NA, Koening C, Karadag O, Kiraz S, Langford CA, Maksimowicz-McKinnon K, McAlear CA, Ozbalkan Z, Ates A, Karaaslan Y, Duzgun N, Monach PA, Ozer HT, Erken E, Ozturk MA, Yazici A, Cefle A, Onat AM, Kisacik B, Pagnoux C, Kasifoglu T, Seyahi E, Fresko I, Seo P, Sreih AG, Warrington KJ, Ytterberg SR, Cobankara V, Cunninghame-Graham DS, Vyse TJ, Pamuk ON, Tunc SE, Dalkilic E, Bicakcigil M, Yentur SP, Wren JD, Merkel PA, Direskeneli H, Sawalha AH. Identification of Susceptibility Loci in IL6, RPS9/LILRB3, and an Intergenic Locus on Chromosome 21q22 in Takayasu Arteritis in a Genome-Wide Association Study. Arthritis Rheumatol. 2015 May;67(5):1361-8. doi: 10.1002/art.39035.
Carmona FD, Mackie SL, Martín JE, Taylor JC, Vaglio A, Eyre S, Bossini-Castillo L, Castañeda S, Cid MC, Hernández-Rodríguez J, Prieto-González S, Solans R, Ramentol-Sintas M, González-Escribano MF, Ortiz-Fernández L, Morado IC, Narváez J, Miranda-Filloy JA; Spanish GCA Group, Beretta L, Lunardi C, Cimmino MA, Gianfreda D, Santilli D, Ramirez GA, Soriano A, Muratore F, Pazzola G, Addimanda O, Wijmenga C, Witte T, Schirmer JH, Moosig F, Schönau V, Franke A, Palm Ø, Molberg Ø, Diamantopoulos AP, Carette S, Cuthbertson D, Forbess LJ, Hoffman GS, Khalidi NA, Koening CL, Langford CA, McAlear CA, Moreland L, Monach PA, Pagnoux C, Seo P, Spiera R, Sreih AG, Warrington KJ, Ytterberg SR, Gregersen PK, Pease CT, Gough A, Green M, Hordon L, Jarrett S, Watts R, Levy S, Patel Y, Kamath S, Dasgupta B, Worthington J, Koeleman BP, de Bakker PI, Barrett JH, Salvarani C, Merkel PA, González-Gay MA, Morgan AW, Martín J. A large-scale genetic analysis reveals a strong contribution of the HLA class II region to giant cell arteritis susceptibility. Am J Hum Genet. 2015 Apr 2;96(4):565-80. doi: 10.1016/j.ajhg.2015.02.009. Epub 2015 Mar 26.
Dejaco C, Oppl B, Monach P, Cuthbertson D, Carette S, Hoffman G, Khalidi N, Koening C, Langford C, McKinnon-Maksimowicz K, Seo P, Specks U, Ytterberg S, Merkel PA, Zwerina J. Serum biomarkers in patients with relapsing eosinophilic granulomatosis with polyangiitis (Churg-Strauss). PLoS One. 2015 Mar 26;10(3):e0121737. doi: 10.1371/journal.pone.0121737. eCollection 2015.
Pagnoux C, Carette S, Khalidi NA, Walsh M, Hiemstra TF, Cuthbertson D, Langford C, Hoffman G, Koening CL, Monach PA, Moreland L, Mouthon L, Seo P, Specks U, Ytterberg S, Westman K, Hoglund P, Harper L, Flossman O, Luqmani R, Savage CO, Rasmussen N, de Groot K, Tesar V, Jayne D, Merkel PA, Guillevin L; french Vasculitis Study Group (FVSG), European Vasculitis Society (EUVAS) and Vasculitis Clinical Research Consortium (VCRC). Comparability of patients with ANCA-associated vasculitis enrolled in clinical trials or in observational cohorts. Clin Exp Rheumatol. 2015 Mar-Apr;33(2 Suppl 89):S-77-83. Epub 2015 May 26.
Milman N, Boonen A, Merkel PA, Tugwell P. Mapping of the outcome measures in rheumatology core set for antineutrophil cytoplasmic antibody-associated vasculitis to the International Classification of Function, Disability and Health. Arthritis Care Res (Hoboken). 2015 Feb;67(2):255-63. doi: 10.1002/acr.22414.
Aydin SZ, Merkel PA, Direskeneli H. Outcome measures for Takayasu's arteritis. Curr Opin Rheumatol. 2015 Jan;27(1):32-7. doi: 10.1097/BOR.0000000000000129.
Mooney J, Spalding N, Poland F, Grayson P, Leduc R, McAlear CA, Richesson RL, Shereff D, Merkel PA, Watts RA. The informational needs of patients with ANCA-associated vasculitis-development of an informational needs questionnaire. Rheumatology (Oxford). 2014 Aug;53(8):1414-21. doi: 10.1093/rheumatology/keu026. Epub 2014 Mar 12.
Langford CA, Monach PA, Specks U, Seo P, Cuthbertson D, McAlear CA, Ytterberg SR, Hoffman GS, Krischer JP, Merkel PA; Vasculitis Clinical Research Consortium. An open-label trial of abatacept (CTLA4-IG) in non-severe relapsing granulomatosis with polyangiitis (Wegener's). Ann Rheum Dis. 2014 Jul;73(7):1376-9. doi: 10.1136/annrheumdis-2013-204164. Epub 2013 Dec 9.
Grayson PC, Amudala NA, McAlear CA, Leduc RL, Shereff D, Richesson R, Fraenkel L, Merkel PA. Causal attributions about disease onset and relapse in patients with systemic vasculitis. J Rheumatol. 2014 May;41(5):923-30. doi: 10.3899/jrheum.131096. Epub 2014 Mar 15.
Merkel PA, Aydin SZ, Boers M, Cornell C, Direskeneli H, Gebhart D, Hatemi G, Luqmani R, Matteson EL, Milman N, Robson J, Seo P, Tomasson G. Current status of outcome measure development in vasculitis. J Rheumatol. 2014 Mar;41(3):593-8. doi: 10.3899/jrheum.131248. Epub 2014 Jan 15.
Hatemi G, Merkel PA, Hamuryudan V, Boers M, Direskeneli H, Aydin SZ, Yazici H. Outcome measures used in clinical trials for Behçet syndrome: a systematic review. J Rheumatol. 2014 Mar;41(3):599-612. doi: 10.3899/jrheum.131249. Epub 2014 Feb 1.
Monach PA. Biomarkers in vasculitis. Curr Opin Rheumatol. 2014 Jan;26(1):24-30. doi: 10.1097/BOR.0000000000000009.
Kermani TA, Warrington KJ, Crowson CS, Ytterberg SR, Hunder GG, Gabriel SE, Matteson EL. Large-vessel involvement in giant cell arteritis: a population-based cohort study of the incidence-trends and prognosis. Ann Rheum Dis. 2013 Dec;72(12):1989-94. doi: 10.1136/annrheumdis-2012-202408. Epub 2012 Dec 19.
Grayson PC, Amudala NA, Mcalear CA, Leduc RL, Shereff D, Richesson R, Fraenkel L, Merkel PA. Illness perceptions and fatigue in systemic vasculitis. Arthritis Care Res (Hoboken). 2013 Nov;65(11):1835-43. doi: 10.1002/acr.22069.
Grayson PC, Cuthbertson D, Carette S, Hoffman GS, Khalidi NA, Koening CL, Langford CA, Maksimowicz-McKinnon K, Monach PA, Seo P, Specks U, Ytterberg SR, Merkel PA; Vasculitis Clinical Research Consortium. New features of disease after diagnosis in 6 forms of systemic vasculitis. J Rheumatol. 2013 Nov;40(11):1905-12. doi: 10.3899/jrheum.121473. Epub 2013 Aug 1.
Hinkofer LC, Seidel SA, Korkmaz B, Silva F, Hummel AM, Braun D, Jenne DE, Specks U. A monoclonal antibody (MCPR3-7) interfering with the activity of proteinase 3 by an allosteric mechanism. J Biol Chem. 2013 Sep 13;288(37):26635-48. doi: 10.1074/jbc.M113.495770. Epub 2013 Jul 31.
Xie G, Roshandel D, Sherva R, Monach PA, Lu EY, Kung T, Carrington K, Zhang SS, Pulit SL, Ripke S, Carette S, Dellaripa PF, Edberg JC, Hoffman GS, Khalidi N, Langford CA, Mahr AD, St Clair EW, Seo P, Specks U, Spiera RF, Stone JH, Ytterberg SR, Raychaudhuri S, de Bakker PI, Farrer LA, Amos CI, Merkel PA, Siminovitch KA. Association of granulomatosis with polyangiitis (Wegener's) with HLA-DPB1*04 and SEMA6A gene variants: evidence from genome-wide analysis. Arthritis Rheum. 2013 Sep;65(9):2457-68. doi: 10.1002/art.38036.
Saruhan-Direskeneli G, Hughes T, Aksu K, Keser G, Coit P, Aydin SZ, Alibaz-Oner F, Kamalı S, Inanc M, Carette S, Hoffman GS, Akar S, Onen F, Akkoc N, Khalidi NA, Koening C, Karadag O, Kiraz S, Langford CA, McAlear CA, Ozbalkan Z, Ates A, Karaaslan Y, Maksimowicz-McKinnon K, Monach PA, Ozer HT, Seyahi E, Fresko I, Cefle A, Seo P, Warrington KJ, Ozturk MA, Ytterberg SR, Cobankara V, Onat AM, Guthridge JM, James JA, Tunc E, Duzgun N, Bıcakcıgil M, Yentür SP, Merkel PA, Direskeneli H, Sawalha AH. Identification of multiple genetic susceptibility loci in Takayasu arteritis. Am J Hum Genet. 2013 Aug 8;93(2):298-305. doi: 10.1016/j.ajhg.2013.05.026. Epub 2013 Jul 3.
Schmidt J, Kermani TA, Bacani AK, Crowson CS, Cooper LT, Matteson EL, Warrington KJ. Diagnostic features, treatment, and outcomes of Takayasu arteritis in a US cohort of 126 patients. Mayo Clin Proc. 2013 Aug;88(8):822-30. doi: 10.1016/j.mayocp.2013.04.025. Epub 2013 Jul 10.
de Boysson H, Boutemy J, Creveuil C, Ollivier Y, Letellier P, Pagnoux C, Bienvenu B. Is there a place for cyclophosphamide in the treatment of giant-cell arteritis? A case series and systematic review. Semin Arthritis Rheum. 2013 Aug;43(1):105-12. doi: 10.1016/j.semarthrit.2012.12.023. Epub 2013 Feb 27.
Clowse ME, Richeson RL, Pieper C, Merkel PA; Vasculitis Clinical Research Consortium. Pregnancy outcomes among patients with vasculitis. Arthritis Care Res (Hoboken). 2013 Aug;65(8):1370-4. doi: 10.1002/acr.21983.
Monach PA, Warner RL, Tomasson G, Specks U, Stone JH, Ding L, Fervenza FC, Fessler BJ, Hoffman GS, Iklé D, Kallenberg CG, Krischer J, Langford CA, Mueller M, Seo P, St Clair EW, Spiera R, Tchao N, Ytterberg SR, Johnson KJ, Merkel PA. Serum proteins reflecting inflammation, injury and repair as biomarkers of disease activity in ANCA-associated vasculitis. Ann Rheum Dis. 2013 Aug;72(8):1342-50. doi: 10.1136/annrheumdis-2012-201981. Epub 2012 Sep 12.
Samson M, Puéchal X, Devilliers H, Ribi C, Cohen P, Stern M, Pagnoux C, Mouthon L, Guillevin L; French Vasculitis Study Group. Long-term outcomes of 118 patients with eosinophilic granulomatosis with polyangiitis (Churg-Strauss syndrome) enrolled in two prospective trials. J Autoimmun. 2013 Jun;43:60-9. doi: 10.1016/j.jaut.2013.03.003. Epub 2013 Apr 13.
Mahr A, Katsahian S, Varet H, Guillevin L, Hagen EC, Höglund P, Merkel PA, Pagnoux C, Rasmussen N, Westman K, Jayne DR; French Vasculitis Study Group (FVSG) and the European Vasculitis Society (EUVAS). Revisiting the classification of clinical phenotypes of anti-neutrophil cytoplasmic antibody-associated vasculitis: a cluster analysis. Ann Rheum Dis. 2013 Jun;72(6):1003-10. doi: 10.1136/annrheumdis-2012-201750. Epub 2012 Sep 8.
Kermani TA, Warrington KJ. Comment on: How common is inflammatory marker-negative disease in giant cell arteritis?. Eye (Lond). 2013 May;27(5):677-8. doi: 10.1038/eye.2013.19. Epub 2013 Mar 8.
McGeoch L, Silecky WB, Maher J, Carette S, Pagnoux C. Temporal arteritis in the young. Joint Bone Spine. 2013 May;80(3):324-7. doi: 10.1016/j.jbspin.2012.09.012. Epub 2012 Nov 9.
Lieberthal JG, Cuthbertson D, Carette S, Hoffman GS, Khalidi NA, Koening CL, Langford CA, Maksimowicz-McKinnon K, Seo P, Specks U, Ytterberg SR, Merkel PA, Monach PA; Vasculitis Clinical Research Consortium. urinary biomarkers in relapsing antineutrophil cytoplasmic antibody-associated vasculitis. J Rheumatol. 2013 May;40(5):674-83. doi: 10.3899/jrheum.120879. Epub 2013 Apr 1.
Marmursztejn J, Guillevin L, Trebossen R, Cohen P, Guilpain P, Pagnoux C, Mouthon L, Legmann P, Vignaux O, Duboc D. Churg-Strauss syndrome cardiac involvement evaluated by cardiac magnetic resonance imaging and positron-emission tomography: a prospective study on 20 patients. Rheumatology (Oxford). 2013 Apr;52(4):642-50. doi: 10.1093/rheumatology/kes155. Epub 2012 Jul 5.
Monach PA. IgG4-related Disease: 2013 Update. Curr Treat Options Cardiovasc Med. 2013 Apr;15(2):214-23. doi: 10.1007/s11936-013-0232-y.
Pagnoux C, de Boysson H. L38. How to treat primary vasculitis of the central nervous system. Presse Med. 2013 Apr;42(4 Pt 2):605-7. doi: 10.1016/j.lpm.2013.01.038. Epub 2013 Mar 1.
Rothschild PR, Pagnoux C, Seror R, Brézin AP, Delair E, Guillevin L. Ophthalmologic manifestations of systemic necrotizing vasculitides at diagnosis: a retrospective study of 1286 patients and review of the literature. Semin Arthritis Rheum. 2013 Apr;42(5):507-14. doi: 10.1016/j.semarthrit.2012.08.003. Epub 2012 Dec 24.
Walsh M, Merkel PA, Peh CA, Szpirt W, Guillevin L, Pusey CD, De Zoysa J, Ives N, Clark WF, Quillen K, Winters JL, Wheatley K, Jayne D; PEXIVAS Investigators. Plasma exchange and glucocorticoid dosing in the treatment of anti-neutrophil cytoplasm antibody associated vasculitis (PEXIVAS): protocol for a randomized controlled trial. Trials. 2013 Mar 14;14:73. doi: 10.1186/1745-6215-14-73.
Terrier B, Carrat F, Krastinova E, Marie I, Launay D, Lacraz A, Belenotti P, de Saint Martin L, Quemeneur T, Huart A, Bonnet F, Le Guenno G, Kahn JE, Hinschberger O, Rullier P, Hummel A, Diot E, Pagnoux C, Lzaro E, Bridoux F, Zenone T, Hermine O, Leger JM, Mariette X, Senet P, Plaisier E, Cacoub P. Prognostic factors of survival in patients with non-infectious mixed cryoglobulinaemia vasculitis: data from 242 cases included in the CryoVas survey. Ann Rheum Dis. 2013 Mar;72(3):374-80. doi: 10.1136/annrheumdis-2012-201405. Epub 2012 May 14.
Pagnoux C, Mahendira D, Laskin CA. Fertility and pregnancy in vasculitis. Best Pract Res Clin Rheumatol. 2013 Feb;27(1):79-94. doi: 10.1016/j.berh.2013.02.002.
Tomasson G. Quality of life and outcome measures in vasculitis. Best Pract Res Clin Rheumatol. 2013 Feb;27(1):69-77. doi: 10.1016/j.berh.2013.01.003.
Pagnoux C, Saadoun D. Virus-Associated Vasculitides: An Update. An Update. Current Immunology Reviews. 2013 Feb. Volume 9, Number 1, February 2013, pp. 2-12(11).
Kermani TA, Warrington KJ. Polymyalgia rheumatica. Lancet. 2013 Jan 5;381(9860):63-72. doi: 10.1016/S0140-6736(12)60680-1. Epub 2012 Oct 8.
Comarmond C, Pagnoux C, Khellaf M, Cordier JF, Hamidou M, Viallard JF, Maurier F, Jouneau S, Bienvenu B, Puéchal X, Aumaître O, Le Guenno G, Le Quellec A, Cevallos R, Fain O, Godeau B, Seror R, Dunogué B, Mahr A, Guilpain P, Cohen P, Aouba A, Mouthon L, Guillevin L; French Vasculitis Study Group. Eosinophilic granulomatosis with polyangiitis (Churg-Strauss): clinical characteristics and long-term followup of the 383 patients enrolled in the French Vasculitis Study Group cohort. Arthritis Rheum. 2013 Jan;65(1):270-81. doi: 10.1002/art.37721.
Pugnet G, Pagnoux C, Bézanahary H, Ly KH, Vidal E, Guillevin L. Progressive multifocal encephalopathy after cyclophosphamide in granulomatosis with polyangiitis (Wegener) patients: case report and review of literature. Clin Exp Rheumatol. 2013 Jan-Feb;31(1 Suppl 75):S62-4. Epub 2013 Apr 22.
Néel A, Masseau A, Hervier B, Bossard C, Cacoub P, Pagnoux C, Hamidou MA. Life-threatening hepatitis C virus-associated polyarteritis nodosa successfully treated by rituximab. J Clin Rheumatol. 2011 Dec;17(8):439-41. doi: 10.1097/RHU.0b013e31823a58d7.
Cartin-Ceba R, Peikert T, Specks U. Pathogenesis of ANCA-associated vasculitis. Curr Rheumatol Rep. 2012 Dec;14(6):481-93. doi: 10.1007/s11926-012-0286-y.
Chung SA, Xie G, Roshandel D, Sherva R, Edberg JC, Kravitz M, Dellaripa PF, Hoffman GS, Mahr AD, Seo P, Specks U, Spiera RF, St Clair EW, Stone JH, Plenge RM, Siminovitch KA, Merkel PA, Monach PA. Meta-analysis of genetic polymorphisms in granulomatosis with polyangiitis (Wegener's) reveals shared susceptibility loci with rheumatoid arthritis. Arthritis Rheum. 2012 Oct;64(10):3463-71. doi: 10.1002/art.34496.
Kermani TA, Ham EK, Camilleri MJ, Warrington KJ. Polyarteritis nodosa-like vasculitis in association with minocycline use: a single-center case series. Semin Arthritis Rheum. 2012 Oct;42(2):213-21. doi: 10.1016/j.semarthrit.2012.03.006. Epub 2012 Jun 15.
Grayson PC, Maksimowicz-McKinnon K, Clark TM, Tomasson G, Cuthbertson D, Carette S, Khalidi NA, Langford CA, Monach PA, Seo P, Warrington KJ, Ytterberg SR, Hoffman GS, Merkel PA; Vasculitis Clinical Research Consortium. Distribution of arterial lesions in Takayasu's arteritis and giant cell arteritis. Ann Rheum Dis. 2012 Aug;71(8):1329-34. doi: 10.1136/annrheumdis-2011-200795. Epub 2012 Feb 10.
Richesson RL, Sutphen R, Shereff D, Krischer JP. The Rare Diseases Clinical Research Network Contact Registry update: features and functionality. Contemp Clin Trials. 2012 Jul;33(4):647-56. doi: 10.1016/j.cct.2012.02.012. Epub 2012 Mar 2.
Dunogué B, Pagnoux C, Guillevin L. Churg-strauss syndrome: clinical symptoms, complementary investigations, prognosis and outcome, and treatment. Semin Respir Crit Care Med. 2011 Jun;32(3):298-309. doi: 10.1055/s-0031-1279826. Epub 2011 Jun 14.
Kermani TA, Schmidt J, Crowson CS, Ytterberg SR, Hunder GG, Matteson EL, Warrington KJ. Utility of erythrocyte sedimentation rate and C-reactive protein for the diagnosis of giant cell arteritis. Semin Arthritis Rheum. 2012 Jun;41(6):866-71. doi: 10.1016/j.semarthrit.2011.10.005. Epub 2011 Nov 25.
Néel A, Pagnoux C, Guillevin L, Hamidou M. [Central nervous system vasculitides: an update]. Rev Med Interne. 2012 Jul;33(7):381-9. doi: 10.1016/j.revmed.2011.11.020. Epub 2012 Jun 7.
Néel A, Auffray-Calvier E, Guillon B, Fontenoy AM, Loussouarn D, Pagnoux C, Hamidou MA. Challenging the diagnosis of primary angiitis of the central nervous system: a single-center retrospective study. J Rheumatol. 2012 May;39(5):1026-34. doi: 10.3899/jrheum.110707. Epub 2012 Apr 1.
Zhu W, Hou J, Chen YP. Exploiting multi-layered information to iteratively predict protein functions. Math Biosci. 2012 Apr;236(2):108-16. doi: 10.1016/j.mbs.2012.02.004. Epub 2012 Mar 3.
Kermani TA, Warrington KJ. Recent advances in diagnostic strategies for giant cell arteritis. Curr Neurol Neurosci Rep. 2012 Apr;12(2):138-44. doi: 10.1007/s11910-011-0243-6.
Pagnoux C, Wolter NE. Vasculitis of the upper airways. Swiss Med Wkly. 2012 Mar 19;142:w13541. doi: 10.4414/smw.2012.13541. eCollection 2012.
Shahane A, Khasnis A, Hajj Ali R. Three unusual mimics of primary angiitis of the central nervous system. Rheumatol Int. 2012 Mar;32(3):737-42. doi: 10.1007/s00296-010-1679-8. Epub 2010 Dec 16.
Dufour JF, Le Gallou T, Cordier JF, Aumaître O, Pinède L, Aslangul E, Pagnoux C, Marie I, Puéchal X, Decaux O, Dubois A, Agard C, Mahr A, Comoz F, Boutemy J, Broussolle C, Guillevin L, Sève P, Bienvenu B; French Center-East Internists Group and the French Vasculitis Study Group. Urogenital manifestations in Wegener granulomatosis: a study of 11 cases and review of the literature. Medicine (Baltimore). 2012 Mar;91(2):67-74. doi: 10.1097/MD.0b013e318239add6.
Chemouny JM, Pagnoux C, Caudwell V, Karras A, Borie R, Guillevin L, Vrtovsnik F, Daugas E. ANCA-associated diseases and lung carcinomas: a five-case series. Clin Nephrol. 2014 Feb;81(2):132-7. doi: 10.5414/CN107407.
Tomasson G, Boers M, Walsh M, LaValley M, Cuthbertson D, Carette S, Davis JC, Hoffman GS, Khalidi NA, Langford CA, McAlear CA, McCune WJ, Monach PA, Seo P, Specks U, Spiera R, St Clair EW, Stone JH, Ytterberg SR, Merkel PA. Assessment of health-related quality of life as an outcome measure in granulomatosis with polyangiitis (Wegener's). Arthritis Care Res (Hoboken). 2012 Feb;64(2):273-9. doi: 10.1002/acr.20649.
Grayson PC, Tomasson G, Cuthbertson D, Carette S, Hoffman GS, Khalidi NA, Langford CA, McAlear CA, Monach PA, Seo P, Warrington KJ, Ytterberg SR, Merkel PA; Vasculitis Clinical Research Consortium. Association of vascular physical examination findings and arteriographic lesions in large vessel vasculitis. J Rheumatol. 2012 Feb;39(2):303-9. doi: 10.3899/jrheum.110652. Epub 2011 Dec 15.
Kostianovsky A, Hauser T, Pagnoux C, Cohen P, Daugas E, Mouthon L, Miossec P, Cordier JF, Guillevin L; French Vasculitis Study Group (FVSG). Alveolar haemorrhage in ANCA-associated vasculitides: 80 patients' features and prognostic factors. Clin Exp Rheumatol. 2012 Jan-Feb;30(1 Suppl 70):S77-82. Epub 2012 May 11.
Kostianovsky A, Charles P, Alves JF, Goulet M, Pagnoux C, Le Guern V, Mouthon L, Krivine A, Villiger P, Launay O, Guillevin L; French Vasculitis Study Group. Immunogenicity and safety of seasonal and 2009 pandemic A/H1N1 influenza vaccines for patients with autoimmune diseases: a prospective, monocentre trial on 199 patients. Clin Exp Rheumatol. 2012 Jan-Feb;30(1 Suppl 70):S83-9. Epub 2012 May 11.
Roubaud-Baudron C, Pagnoux C, Méaux-Ruault N, Grasland A, Zoulim A, LE Guen J, Prud'homme A, Bienvenu B, de Menthon M, Camps S, LE Guern V, Aouba A, Cohen P, Mouthon L, Guillevin L; French Vasculitis Study Group. Rituximab maintenance therapy for granulomatosis with polyangiitis and microscopic polyangiitis. J Rheumatol. 2012 Jan;39(1):125-30. doi: 10.3899/jrheum.110143. Epub 2011 Nov 15.
Tomasson G, Grayson PC, Mahr AD, Lavalley M, Merkel PA. Value of ANCA measurements during remission to predict a relapse of ANCA-associated vasculitis--a meta-analysis. Rheumatology (Oxford). 2012 Jan;51(1):100-9. doi: 10.1093/rheumatology/ker280. Epub 2011 Oct 29.
Pujol R, Jaraquemada D, Rodríguez-Pla A. Capítulo 5: Tolerancia y Enfermedades Autoinmunitarias (Chapter 5:Tolerance and Autoimmune Disorders). Tratado de Medicina Interna Farreras-Rozman (Internal Medicine Textbook Farreras-Rozman). XVII Edition. 2012; Rozman C, ed. Editorial Elsevier, Spain.
Monach PA, Kümpers P, Lukasz A, Tomasson G, Specks U, Stone JH, Cuthbertson D, Krischer J, Carette S, Ding L, Hoffman GS, Iklé D, Kallenberg CG, Khalidi NA, Langford CA, Seo P, St Clair EW, Spiera R, Tchao N, Ytterberg SR, Haubitz M, Merkel PA. Circulating angiopoietin-2 as a biomarker in ANCA-associated vasculitis. PLoS One. 2012;7(1):e30197. doi: 10.1371/journal.pone.0030197. Epub 2012 Jan 18.
Kelley JM, Monach PA, Ji C, Zhou Y, Wu J, Tanaka S, Mahr AD, Johnson S, McAlear C, Cuthbertson D, Carette S, Davis JC Jr, Dellaripa PF, Hoffman GS, Khalidi N, Langford CA, Seo P, St Clair EW, Specks U, Stone JH, Spiera RF, Ytterberg SR, Merkel PA, Edberg JC, Kimberly RP. IgA and IgG antineutrophil cytoplasmic antibody engagement of Fc receptor genetic variants influences granulomatosis with polyangiitis. Proc Natl Acad Sci U S A. 2011 Dec 20;108(51):20736-41. doi: 10.1073/pnas.1109227109. Epub 2011 Dec 6.
Grayson PC, Sloan JM, Niles JL, Monach PA, Merkel PA. Antineutrophil cytoplasmic antibodies, autoimmune neutropenia, and vasculitis. Semin Arthritis Rheum. 2011 Dec;41(3):424-33. doi: 10.1016/j.semarthrit.2011.02.003. Epub 2011 Apr 19.
Monach PA, Tomasson G, Specks U, Stone JH, Cuthbertson D, Krischer J, Ding L, Fervenza FC, Fessler BJ, Hoffman GS, Ikle D, Kallenberg CG, Langford CA, Mueller M, Seo P, St Clair EW, Spiera R, Tchao N, Ytterberg SR, Gu YZ, Snyder RD, Merkel PA. Circulating markers of vascular injury and angiogenesis in antineutrophil cytoplasmic antibody-associated vasculitis. Arthritis Rheum. 2011 Dec;63(12):3988-97. doi: 10.1002/art.30615.
Pagnoux C, Bérezné A, Damade R, Paillot J, Aouizerate J, Le Guern V, Salmon D, Guillevin L. Encrusting cystitis due to Corynebacterium urealyticum in a patient with ANCA-associated vasculitis: case report and review of the literature. Semin Arthritis Rheum. 2011 Oct;41(2):297-300. doi: 10.1016/j.semarthrit.2010.11.004. Epub 2011 Feb 1.
Silva F, Seo P, Schroeder DR, Stone JH, Merkel PA, Hoffman GS, Spiera R, Sebastian JK, Davis JC Jr, St Clair EW, Allen NB, McCune WJ, Ytterberg SR, Specks U; Wegener's Granulomatosis Etanercept Trial Research Group. Solid malignancies among etanercept-treated patients with granulomatosis with polyangiitis (Wegener's): long-term followup of a multicenter longitudinal cohort. Arthritis Rheum. 2011 Aug;63(8):2495-503. doi: 10.1002/art.30394.
Direskeneli H, Aydin SZ, Kermani TA, Matteson EL, Boers M, Herlyn K, Luqmani RA, Neogi T, Seo P, Suppiah R, Tomasson G, Merkel PA. Development of outcome measures for large-vessel vasculitis for use in clinical trials: opportunities, challenges, and research agenda. J Rheumatol. 2011 Jul;38(7):1471-9. doi: 10.3899/jrheum.110275.
Walsh M, Mukhtyar C, Mahr A, Herlyn K, Luqmani R, Merkel PA, Jayne DR. Health-related quality of life in patients with newly diagnosed antineutrophil cytoplasmic antibody-associated vasculitis. Arthritis Care Res (Hoboken). 2011 Jul;63(7):1055-61. doi: 10.1002/acr.20471.
Espy C, Morelle W, Kavian N, Grange P, Goulvestre C, Viallon V, Chéreau C, Pagnoux C, Michalski JC, Guillevin L, Weill B, Batteux F, Guilpain P. Sialylation levels of anti-proteinase 3 antibodies are associated with the activity of granulomatosis with polyangiitis (Wegener's). Arthritis Rheum. 2011 Jul;63(7):2105-15. doi: 10.1002/art.30362.
Merkel PA, Aydin SZ, Boers M, Direskeneli H, Herlyn K, Seo P, Suppiah R, Tomasson G, Luqmani RA. The OMERACT core set of outcome measures for use in clinical trials of ANCA-associated vasculitis. J Rheumatol. 2011 Jul;38(7):1480-6. doi: 10.3899/jrheum.110276.
Cao Y, Schmitz JL, Yang J, Hogan SL, Bunch D, Hu Y, Jennette CE, Berg EA, Arnett FC Jr, Jennette JC, Falk RJ, Preston GA. DRB1*15 allele is a risk factor for PR3-ANCA disease in African Americans. J Am Soc Nephrol. 2011 Jun;22(6):1161-7. doi: 10.1681/ASN.2010101058. Epub 2011 May 26.
Marchand-Janssen C, Loulergue P, Mouthon L, Mahr A, Blanche P, Deforges L, Lebon P, Cohen P, Pagnoux C, Le Guern V, Bienvenu B, Aouba A, Guillevin L, Launay O. Patients with systemic inflammatory and autoimmune diseases are at risk of vaccine-preventable illnesses. Rheumatology (Oxford). 2011 Jun;50(6):1099-105. doi: 10.1093/rheumatology/keq422. Epub 2011 Jan 21.
Tomasson G, Lavalley M, Tanriverdi K, Finkielman JD, Davis JC Jr, Hoffman GS, McCune WJ, St Clair EW, Specks U, Spiera R, Stone JH, Freedman JE, Merkel PA; Wegener's Granulomatosis Etanercept Trial (WGET) Research Group. Relationship between markers of platelet activation and inflammation with disease activity in Wegener's granulomatosis. J Rheumatol. 2011 Jun;38(6):1048-54. doi: 10.3899/jrheum.100735. Epub 2011 Mar 16.
Guilpain P, Chéreau C, Goulvestre C, Servettaz A, Montani D, Tamas N, Pagnoux C, Hachulla E, Weill B, Guillevin L, Mouthon L, Batteux F. The oxidation induced by antimyeloperoxidase antibodies triggers fibrosis in microscopic polyangiitis. Eur Respir J. 2011 Jun;37(6):1503-13. doi: 10.1183/09031936.00148409. Epub 2010 Nov 11.
Pagnoux C, Thorne C, Mandelcorn ED, Carette S. CNS involvement in acute posterior multifocal placoid pigment epitheliopathy. Can J Neurol Sci. 2011 May;38(3):526-8. doi: 10.1017/s0317167100012002.
Le Guenno G, Mahr A, Pagnoux C, Dhote R, Guillevin L; French Vasculitis Study Group. Incidence and predictors of urotoxic adverse events in cyclophosphamide-treated patients with systemic necrotizing vasculitides. Arthritis Rheum. 2011 May;63(5):1435-45. doi: 10.1002/art.30296.
Luqmani RA, Suppiah R, Grayson PC, Merkel PA, Watts R. Nomenclature and classification of vasculitis - update on the ACR/EULAR diagnosis and classification of vasculitis study (DCVAS). Clin Exp Immunol. 2011 May;164 Suppl 1(Suppl 1):11-3. doi: 10.1111/j.1365-2249.2011.04358.x.
Kermani TA, Ytterberg SR, Warrington KJ. Pneumocystis jiroveci pneumonia in giant cell arteritis: A case series. Arthritis Care Res (Hoboken). 2011 May;63(5):761-5. doi: 10.1002/acr.20435.
Pagnoux C, Le Guern V, Goffinet F, Diot E, Limal N, Pannier E, Warzocha U, Tsatsaris V, Dhote R, Karras A, Cohen P, Damade R, Mouthon L, Guillevin L. Pregnancies in systemic necrotizing vasculitides: report on 12 women and their 20 pregnancies. Rheumatology (Oxford). 2011 May;50(5):953-61. doi: 10.1093/rheumatology/keq421. Epub 2010 Dec 22.
Suppiah R, Judge A, Batra R, Flossmann O, Harper L, Höglund P, Javaid MK, Jayne D, Mukhtyar C, Westman K, Davis JC Jr, Hoffman GS, McCune WJ, Merkel PA, St Clair EW, Seo P, Spiera R, Stone JH, Luqmani R. A model to predict cardiovascular events in patients with newly diagnosed Wegener's granulomatosis and microscopic polyangiitis. Arthritis Care Res (Hoboken). 2011 Apr;63(4):588-96. doi: 10.1002/acr.20433.
Kermani TA, Crowson CS, Achenbach SJ, Luthra HS. Idiopathic retroperitoneal fibrosis: a retrospective review of clinical presentation, treatment, and outcomes. Mayo Clin Proc. 2011 Apr;86(4):297-303. doi: 10.4065/mcp.2010.0663.
Walsh M, Catapano F, Szpirt W, Thorlund K, Bruchfeld A, Guillevin L, Haubitz M, Merkel PA, Peh CA, Pusey C, Jayne D. Plasma exchange for renal vasculitis and idiopathic rapidly progressive glomerulonephritis: a meta-analysis. Am J Kidney Dis. 2011 Apr;57(4):566-74. doi: 10.1053/j.ajkd.2010.10.049. Epub 2010 Dec 30.
Pagnoux C, Stubbe M, Lifermann F, Decaux O, Pavic M, Bérezné A, Delacroix-Szmania I, Méaux-Ruault N, Bienvenu B, Cabane J, Guillevin L; French Vasculitis Study Group. Wegener's granulomatosis strictly and persistently localized to one organ is rare: assessment of 16 patients from the French Vasculitis Study Group database. J Rheumatol. 2011 Mar;38(3):475-8. doi: 10.3899/jrheum.100518. Epub 2010 Dec 1.
Kermani TA, Warrington KJ, Amin S. Malignancy risk in vasculitis. Ther Adv Musculoskelet Dis. 2011 Feb;3(1):55-63. doi: 10.1177/1759720X10387460.
Direskeneli H, Aydin SZ, Merkel PA. Assessment of disease activity and progression in Takayasu's arteritis. Clin Exp Rheumatol. 2011 Jan-Feb;29(1 Suppl 64):S86-91. Epub 2011 May 11.
Barreto P, Pagnoux C, Luca L, Aouizerate J, Ortigueira I, Cohen P, Muller G, Guillevin L. Dorsal prevertebral lesions in Wegener granulomatosis: report on four cases. Joint Bone Spine. 2011 Jan;78(1):88-91. doi: 10.1016/j.jbspin.2010.07.017. Epub 2010 Sep 18.
de Menthon M, Cohen P, Pagnoux C, Buchler M, Sibilia J, Détrée F, Gayraud M, Khellaf M, Penalba C, Legallicier B, Mouthon L, Guillevin L. Infliximab or rituximab for refractory Wegener's granulomatosis: long-term follow up. A prospective randomised multicentre study on 17 patients. Clin Exp Rheumatol. 2011 Jan-Feb;29(1 Suppl 64):S63-71. Epub 2011 May 11.
Kermani TA, Warrington KJ. Lower extremity vasculitis in polymyalgia rheumatica and giant cell arteritis. Curr Opin Rheumatol. 2011 Jan;23(1):38-42. doi: 10.1097/BOR.0b013e3283410072.
Suppiah R, Flossman O, Mukhtyar C, Alberici F, Baslund B, Brown D, Hasan N, Holle J, Hruskova Z, Jayne D, Judge A, Little MA, Merkel PA, Palmisano A, Seo P, Stegeman C, Tesar V, Vaglio A, Westman K, Luqmani R. Measurement of damage in systemic vasculitis: a comparison of the Vasculitis Damage Index with the Combined Damage Assessment Index. Ann Rheum Dis. 2011 Jan;70(1):80-5. doi: 10.1136/ard.2009.122952. Epub 2010 Aug 24.
Guillevin L, Pagnoux C, Seror R, Mahr A, Mouthon L, Toumelin PL; French Vasculitis Study Group (FVSG). The Five-Factor Score revisited: assessment of prognoses of systemic necrotizing vasculitides based on the French Vasculitis Study Group (FVSG) cohort. Medicine (Baltimore). 2011 Jan;90(1):19-27. doi: 10.1097/MD.0b013e318205a4c6.
Mahr AD, Edberg JC, Stone JH, Hoffman GS, St Clair EW, Specks U, Dellaripa PF, Seo P, Spiera RF, Rouhani FN, Brantly ML, Merkel PA. Alpha₁-antitrypsin deficiency-related alleles Z and S and the risk of Wegener's granulomatosis. Arthritis Rheum. 2010 Dec;62(12):3760-7. doi: 10.1002/art.27742.
Silva F, Hummel AM, Jenne DE, Specks U. Discrimination and variable impact of ANCA binding to different surface epitopes on proteinase 3, the Wegener's autoantigen. J Autoimmun. 2010 Dec;35(4):299-308. doi: 10.1016/j.jaut.2010.06.021.
Seror R, Pagnoux C, Ruivard M, Landru I, Wahl D, Rivière S, Aussant S, Mahr A, Cohen P, Mouthon L, Guillevin L; French Vasculitis Study Group. Treatment strategies and outcome of induction-refractory Wegener's granulomatosis or microscopic polyangiitis: analysis of 32 patients with first-line induction-refractory disease in the WEGENT trial. Ann Rheum Dis. 2010 Dec;69(12):2125-30. doi: 10.1136/ard.2010.131953. Epub 2010 Jul 19.
Dion J, Bachmeyer C, Moguelet P, Lescure FX, Pagnoux C. Livedo reticularis and erythematous macules of the forearms indicating cutaneous microscopic polyangiitis. Am J Med. 2010 Nov;123(11):e5-6. doi: 10.1016/j.amjmed.2010.03.011.
Herlyn K, Hellmich B, Seo P, Merkel PA. Patient-reported outcome assessment in vasculitis may provide important data and a unique perspective. Arthritis Care Res (Hoboken). 2010 Nov;62(11):1639-45. doi: 10.1002/acr.20276. Epub 2010 Jun 15.
Pierrot-Deseilligny Despujol C, Pouchot J, Pagnoux C, Coste J, Guillevin L. Predictors at diagnosis of a first Wegener's granulomatosis relapse after obtaining complete remission. Rheumatology (Oxford). 2010 Nov;49(11):2181-90. doi: 10.1093/rheumatology/keq244. Epub 2010 Jul 31.
Walsh M, Merkel PA, Mahr A, Jayne D. Effects of duration of glucocorticoid therapy on relapse rate in antineutrophil cytoplasmic antibody-associated vasculitis: A meta-analysis. Arthritis Care Res (Hoboken). 2010 Aug;62(8):1166-73. doi: 10.1002/acr.20176.
Flint J, Morgan MD, Savage CO. Pathogenesis of ANCA-associated vasculitis. Rheum Dis Clin North Am. 2010 Aug;36(3):463-77. doi: 10.1016/j.rdc.2010.05.006. Epub 2010 Jun 23.
Pagnoux C, Dechartres A, Giraudeau B, Seror R, Guillevin L, Ravaud P. Reporting of corticosteroid use in systemic disease trials: evidence from a systematic review of the potential impact on treatment effect. Arthritis Care Res (Hoboken). 2010 Jul;62(7):1002-8. doi: 10.1002/acr.20139.
Silva F, Specks U, Kalra S, Hogan MC, Leung N, Sethi S, Fervenza FC. Mycophenolate mofetil for induction and maintenance of remission in microscopic polyangiitis with mild to moderate renal involvement--a prospective, open-label pilot trial. Clin J Am Soc Nephrol. 2010 Mar;5(3):445-53. doi: 10.2215/CJN.06010809. Epub 2010 Jan 21.
Koening CL, Gota CE, Langford CA, Hoffman GS, Natowicz MR. Serum chitotriosidase activity and Wegener's granulomatosis. Clin Biochem. 2010 Mar;43(4-5):512-4. doi: 10.1016/j.clinbiochem.2009.11.015. Epub 2009 Dec 1.
Pagnoux C, Seror R, Henegar C, Mahr A, Cohen P, Le Guern V, Bienvenu B, Mouthon L, Guillevin L; French Vasculitis Study Group. Clinical features and outcomes in 348 patients with polyarteritis nodosa: a systematic retrospective study of patients diagnosed between 1963 and 2005 and entered into the French Vasculitis Study Group Database. Arthritis Rheum. 2010 Feb;62(2):616-26. doi: 10.1002/art.27240.
Rodríguez-Pla A, Martínez-Murillo F, Savino PJ, Eagle RC Jr, Seo P, Soloski MJ. MMP-12, a novel matrix metalloproteinase associated with giant cell arteritis. Rheumatology (Oxford). 2009 Nov;48(11):1460-1. doi: 10.1093/rheumatology/kep271. Epub 2009 Sep 6.
Merkel PA, Herlyn K, Mahr AD, Neogi T, Seo P, Walsh M, Boers M, Luqmani R. Progress towards a core set of outcome measures in small-vessel vasculitis. Report from OMERACT 9. J Rheumatol. 2009 Oct;36(10):2362-8. doi: 10.3899/jrheum.090373.
Silva F, Specks U, Sethi S, Irazabal MV, Fervenza FC. Successful pregnancy and delivery of a healthy newborn despite transplacental transfer of antimyeloperoxidase antibodies from a mother with microscopic polyangiitis. Am J Kidney Dis. 2009 Sep;54(3):542-5. doi: 10.1053/j.ajkd.2009.02.016. Epub 2009 Apr 23.
Seo P, Jayne D, Luqmani R, Merkel PA. Assessment of damage in vasculitis: expert ratings of damage. Rheumatology (Oxford). 2009 Jul;48(7):823-7. doi: 10.1093/rheumatology/kep103. Epub 2009 May 19.
Khasnis A, Langford CA. Update on vasculitis. J Allergy Clin Immunol. 2009 Jun;123(6):1226-36. doi: 10.1016/j.jaci.2009.04.024.
Griggs RC, Batshaw M, Dunkle M, Gopal-Srivastava R, Kaye E, Krischer J, Nguyen T, Paulus K, Merkel PA; Rare Diseases Clinical Research Network. Clinical research for rare disease: opportunities, challenges, and solutions. Mol Genet Metab. 2009 Jan;96(1):20-6. doi: 10.1016/j.ymgme.2008.10.003. Epub 2008 Nov 13.
Merkel PA, Cuthbertson DD, Hellmich B, Hoffman GS, Jayne DR, Kallenberg CG, Krischer JP, Luqmani R, Mahr AD, Matteson EL, Specks U, Stone JH; Vasculitis Clinical Research Consortium. Comparison of disease activity measures for anti-neutrophil cytoplasmic autoantibody (ANCA)-associated vasculitis. Ann Rheum Dis. 2009 Jan;68(1):103-6. doi: 10.1136/ard.2008.097758. Epub 2008 Jul 29.
Finkielman JD, Merkel PA, Schroeder D, Hoffman GS, Spiera R, St Clair EW, Davis JC Jr, McCune WJ, Lears A, Ytterberg SR, Hummel AM, Viss MA, Peikert T, Stone JH, Specks U; WGET Research Group. Glycosylation of proteinase 3 (PR3) is not required for its reactivity with antineutrophil cytoplasmic antibodies (ANCA) in Wegener's granulomatosis. Clin Exp Rheumatol. 2009 Jan-Feb;27(1 Suppl 52):S45-52.
Koening CL, Hernández-Rodríguez J, Molloy ES, Clark TM, Hoffman GS. Limited utility of rapamycin in severe, refractory Wegener's granulomatosis. J Rheumatol. 2009 Jan;36(1):116-9. doi: 10.3899/jrheum.080664.
Tomasson G, Monach PA, Merkel PA. Thromboembolic disease in vasculitis. Curr Opin Rheumatol. 2009 Jan;21(1):41-6. doi: 10.1097/BOR.0b013e32831de4e7.
Khasnis A, Molloy ES. Mimics of primary systemic vasculitides. International Journal of Clinical Rheumatology [Internet]. 2009; 4 5:[1-13 pp.]. DOI 10.2217/ijr.09.37.
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