Inherited Neuropathy Consortium

 

Book Chapters

  1. Scherer SS. Genes and Inherited Neuropathies. Companion to Peripheral Neuropathy. Philadelphia, PA: Saunders Elsevier; 2010:335-342.
  2. 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.
  3. 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.
  4. Shy M. Peripheral Neuropathies. Goldman's Cecil Medicine: Expert Consult Premium Edition. Philadelphia, PA: Elsevier; 2012:2396-2409.
  5. Murphy SM, Laura M, Reilly MM. DNA testing in hereditary neuropathies. Handbook of clinical neurology. Vol 115. 2013/08/13 ed2013:213-232. PMID: 23931782
  6. Rossor AR, MM. Charcot-Marie-Tooth Disease. In: Hilton-Jones D, Turner M, eds. Oxford Textbook of Neuromuscular Disorders. Oxford, UK: Oxford University Press; 2014:61-74.
  7. Brennan K, Shy M. Hereditary Neuropathies in Late Childhood and Adolescence. In: Darras B, Jones H, Ryan M, De Vivo D, eds. Neuromuscular Disorders of Infancy, Childhood and Adolescence: A Clinicians Approach. 2nd ed: Elsevier Inc; 2015:319-339.
  8. Saporta M, Shy M. Peripheral Neuropathies. In: Zigmond M, Coyle J, Rowland L, eds. Neurobiology of Brain Disorders: Biological Basis of Neurological and Psychiatric Disorders. 1st ed: Academic Press; 2015:167-188.

 

Abstracts Presented at Conferences

  1. Hall CA, Bacon CJ, Shy ME, Inherited Neuropathies Consortium, Rare Diseases Clinical Research Network Data Management and Coordinating Center. The Rare Diseases Clinical Research Network Contact Registry for the Inherited Neuropathies Consortium. Paper presented at: Charcot-Marie-Tooth Association, 5th International CMT Consortium Meeting; Jun. 25-27, 2013; Antwerp, Belgium.
  2. 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.

 

Conference Proceedings

  1. Sanmaneechai O, Feely S, Finkel R, et al. Natural History Baseline Phenotype and Genotype of Hereditary Motor Sensory Peripheral Neuropathies Caused by Mutation in the Myelin Protein Zero. Paper presented at: 2013 Peripheral Nerve Society Biennial Meeting; June 29–July 3, 2013; Saint-Malo, France.

 

Journal Articles

  1. 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
  2. Houlden H, Laura M, Ginsberg L, et al. 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
  3. 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
  4. Shy M. Ascorbic acid for treatment of CMT1A: the jury is still out. Lancet Neurol. Jun 2009;8(6):505-507. PMID: 19427270
  5. 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
  6. Ramdharry GM, Day BL, Reilly MM, Marsden JF. Hip flexor fatigue limits walking in Charcot- Marie-Tooth disease. Muscle Nerve. Jul 2009;40(1):103-111. PMID: 19405092, PMCID: PMC3734534
  7. 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
  8. 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, Zuchner S. Exome sequencing of a multigenerational human pedigree. PLoS ONE. December 2009;4(12):e8232. PMID: 20011588, PMCID: PMC2788131
  9. Reilly MM, Shy ME. Diagnosis and new treatments in genetic neuropathies. J. Neurol. Neurosurg. Psychiatry. Dec 2009;80(12):1304-1314. PMID: 19917815
  10. 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
  11. 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
  12. Burns J, Ramchandren S, Ryan MM, Shy M, Ouvrier RA. Determinants of reduced health-related quality of life in pediatric inherited neuropathies. Neurology. Aug 24 2010;75(8):726-731. PMID: 20733147, PMCID: PMC2931653
  13. Martin ER, Kinnamon DD, Schmidt MA, Powell EH, Zuchner S, Morris RW. SeqEM: an adaptive genotype-calling approach for next-generation sequencing studies. Bioinformatics. Nov 15 2010;26(22):2803-2810. PMID: 20861027, PMCID: PMC2971572
  14. 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
  15. Saporta MA, Grskovic M, Dimos JT. Induced pluripotent stem cells in the study of neurological diseases. Stem cell research & therapy. 2011;2(5):37. PMID: 21936964, PMCID: PMC3308034
  16. Smith LJ, Murphy SM, Holmes P, Reilly MM, Reiniger L, Thom M, Lunn MP. A painful right leg. BMJ. 2011;342:d1009. PMID: 21411806
  17. Amato AA, Reilly MM. The death panel for Charcot-Marie-Tooth panels. Ann. Neurol. Jan 2011;69(1):1-4. PMID: 21280068
  18. Saporta AS, Sottile SL, Miller LJ, Feely SM, Siskind CE, Shy ME. Charcot-Marie-Tooth disease subtypes and genetic testing strategies. Ann. Neurol. Jan 2011;69(1):22-33. PMID: 21280073, PMCID: PMC3058597
  19. Patzko A, Shy ME. Update on Charcot-Marie-Tooth disease. Curr. Neurol. Neurosci. Rep. Feb 2011;11(1):78-88. PMID: 21080241, PMCID: PMC3685483
  20. Russo M, Laura M, Polke JM, et al. Variable phenotypes are associated with PMP22 missense mutations. Neuromuscul. Disord. Feb 2011;21(2):106-114. PMID: 21194947
  21. Zuchner 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, Pericak-Vance MA. Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa. Am. J. Hum. Genet. Feb 11 2011;88(2):201-206. PMID: 21295283, PMCID: PMC3035708
  22. Montenegro G, Powell E, Huang J, Speziani F, Edwards YJ, Beecham G, Hulme W, Siskind C, Vance J, Shy M, Zuchner S. Exome sequencing allows for rapid gene identification in a Charcot- Marie-Tooth family. Ann. Neurol. Mar 2011;69(3):464-470. PMID: 21254193, PMCID: PMC3066289
  23. 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. Mar 2011;16(1):65-70. PMID: 21504505
  24. Murphy SM, Laura 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. Mar 2011;21(3):223-226. PMID: 21256749
  25. Reilly MM, Murphy SM, Laura M. Charcot-Marie-Tooth disease. J. Peripher. Nerv. Syst. Mar 2011;16(1):1-14. PMID: 21504497
  26. 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
  27. 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
  28. Shy ME. Inherited peripheral neuropathies. Continuum (Minneapolis, Minn.). Apr 2011;17(2 Neurogenetics):294-315. PMID: 22810821
  29. 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. May 17 2011;76(20):1690-1696. PMID: 21508331, PMCID: PMC3100135
  30. Scherer SS. CMT2A: the name doesn't tell the whole story. Neurology. May 17 2011;76(20):1686-1687. PMID: 21508332
  31. Siskind CE, Murphy SM, Ovens R, Polke J, Reilly MM, Shy ME. Phenotype expression in women with CMT1X. J. Peripher. Nerv. Syst. Jun 2011;16(2):102-107. PMID: 21692908
  32. 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
  33. 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
  34. 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
  35. 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. Sep 2011;16(3):169-174. PMID: 22003930
  36. 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. Sep 2011;16(3):191-198. PMID: 22003934, PMCID: PMC3754828
  37. Shy ME, Patzko A. Axonal Charcot-Marie-Tooth disease. Curr. Opin. Neurol. Oct 2011;24(5):475- 483. PMID: 21892080
  38. Miller LJ, Saporta AS, Sottile SL, Siskind CE, Feely SM, Shy ME. Strategy for genetic testing in Charcot-Marie-disease. Acta Myol. Oct 2011;30(2):109-116. PMID: 22106713, PMCID: PMC3235845
  39. Siskind CE, Shy ME. Genetics of neuropathies. Semin. Neurol. Nov 2011;31(5):494-505. PMID: 22266887
  40. Hutton EJ, Carty L, Laura 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. Dec 2011;16(4):295- 303. PMID: 22176144
  41. 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
  42. Holzbaur EL, Scherer SS. Microtubules, axonal transport, and neuropathy. N. Engl. J. Med. Dec 15 2011;365(24):2330-2332. PMID: 22168648, PMCID: PMC3776444
  43. Rossor AM, Kalmar B, Greensmith L, Reilly MM. The distal hereditary motor neuropathies. J. Neurol. Neurosurg. Psychiatry. Jan 2012;83(1):6-14. PMID: 22028385
  44. 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
  45. McLaughlin HM, Sakaguchi R, Giblin W, et al. A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N). Hum. Mutat. Jan 2012;33(1):244-253. PMID: 22009580, PMCID: PMC3240693
  46. Murphy SM, Davidson GL, Brandner S, Houlden H, Reilly MM. Mutation in FAM134B causing severe hereditary sensory neuropathy. J. Neurol. Neurosurg. Psychiatry. Jan 2012;83(1):119-120. PMID: 21115472, PMCID: PMC3721196
  47. Patzko A, Shy ME. Charcot-Marie-Tooth disease and related genetic neuropathies. Continuum (Minneapolis, Minn.). Feb 2012;18(1):39-59. PMID: 22810069
  48. Montenegro G, Rebelo AP, Connell J, et al. Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12. J. Clin. Invest. Feb 1 2012;122(2):538-544. PMID: 22232211, PMCID: PMC3266795
  49. 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. Feb 2012;83(2):232-233. PMID: 21205983, PMCID: PMC3719382
  50. Davidson G, Murphy S, Polke J, et al. Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort. J. Neurol. Aug 2012;259(8):1673- 1685. PMID: 22302274, PMCID: PMC3752368
  51. 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
  52. Norton N, Robertson PD, Rieder MJ, Zuchner S, Rampersaud E, Martin E, Li D, Nickerson DA, Hershberger RE. Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era. Circ. Cardiovasc. Genet. Apr 1 2012;5(2):167-174. PMID: 22337857, PMCID: PMC3332064
  53. Lloyd TE, Machamer J, O'Hara K, et 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
  54. 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. May 2012;71(5):642-652. PMID: 22522479, PMCID: PMC3335189
  55. 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. May 29 2012;78(22):1714-1720. PMID: 22459677, PMCID: PMC3359582
  56. Miller LJ, Patzko A, Lewis RA, Shy ME. Phenotypic presentation of the Ser63Del MPZ mutation. J. Peripher. Nerv. Syst. Jun 2012;17(2):197-200. PMID: 22734905, PMCID: PMC3731745
  57. Rossor AM, Davidson GL, Blake J, Polke JM, Murphy SM, Houlden H, Innes A, Kalmar B, Greensmith L, Reilly MM. A novel p.Glu175X premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2. J. Peripher. Nerv. Syst. Jun 2012;17(2):201-205. PMID: 22734906
  58. Rossor AM, Murphy S, Reilly MM. Knee bobbing in Charcot-Marie-Tooth disease. Practical neurology. Jun 2012;12(3):182-183. PMID: 22661351, PMCID: PMC3736802
  59. 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. Jun 2012;17(2):210-216. PMID: 22734908
  60. 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
  61. Murphy SM, Laura M, Fawcett K, Pandraud A, Liu YT, Davidson GL, Rossor AM, Polke JM, Castleman V, Manji H, Lunn MP, Bull K, Ramdharry G, Davis M, Blake JC, Houlden H, Reilly MM. Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing. J. Neurol. Neurosurg. Psychiatry. Jul 2012;83(7):706-710. PMID: 22577229, PMCID: PMC3736805
  62. Saporta MA, Shy BR, Patzko A, Bai Y, Pennuto M, Ferri C, Tinelli E, Saveri P, Kirschner D, Crowther M, Southwood C, Wu X, Gow A, Feltri ML, Wrabetz L, Shy ME. MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B. Brain. Jul 2012;135(Pt 7):2032-2047. PMID: 22689911, PMCID: PMC3381724
  63. Arthur-Farraj PJ, Murphy SM, Laura M, Lunn MP, Manji H, Blake J, Ramdharry G, Fox Z, Reilly MM. Hand weakness in Charcot-Marie-Tooth disease 1X. Neuromuscul. Disord. Jul 2012;22(7):622-626. PMID: 22464564, PMCID: PMC3657175
  64. 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. Jul 2012;22(7):617-621. PMID: 22483671, PMCID: PMC3657177
  65. Osterloh JM, Yang J, Rooney TM, Fox AN, Adalbert R, Powell EH, Sheehan AE, Avery MA, Hackett R, Logan MA, MacDonald JM, Ziegenfuss JS, Milde S, Hou YJ, Nathan C, Ding A, Brown RH, Jr., Conforti L, Coleman M, Tessier-Lavigne M, Zuchner S, Freeman MR. dSarm/Sarm1 is required for activation of an injury-induced axon death pathway. Science. Jul 27 2012;337(6093):481-484. PMID: 22678360
  66. Abrams CK, Scherer SS. Gap junctions in inherited human disorders of the central nervous system. Biochim. Biophys. Acta. Aug 2012;1818(8):2030-2047. PMID: 21871435, PMCID: PMC3771870
  67. Shy ME. Lessons from London. J. Neurol. Neurosurg. Psychiatry. Aug 2012;83(8):767-768. PMID: 22696588, PMCID: PMC3721145
  68. Burns J, Ouvrier R, Estilow T, Shy R, Laura M, Eichinger K, Muntoni F, Reilly MM, Pareyson D, Acsadi G, Shy ME, Finkel RS. Symmetry of foot alignment and ankle flexibility in paediatric Charcot-Marie-Tooth disease. Clin. Biomech. Aug 2012;27(7):744-747. PMID: 22424781, PMCID: PMC3389135
  69. Davidson G, Murphy S, Polke J, Laura M, Salih M, Muntoni F, Blake J, Brandner S, Davies N, Horvath R, Price S, Donaghy M, Roberts M, Foulds N, Ramdharry G, Soler D, Lunn M, Manji H, Davis M, Houlden H, Reilly M. Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort. J. Neurol. Aug 2012;259(8):1673-1685. PMID: 22302274, PMCID: PMC3752368
  70. Michell AW, Gaitatzis A, Burge J, Reilly MM, Kapoor R, Koltzenburg M. Isolated motor conduction block associated with infliximab. J. Neurol. Aug 2012;259(8):1758-1760. PMID: 22349873, PMCID: PMC3125445
  71. Pitceathly RD, Murphy SM, Cottenie E, Chalasani A, Sweeney MG, Woodward C, Mudanohwo EE, Hargreaves I, Heales S, Land J, Holton JL, Houlden H, Blake J, Champion M, Flinter F, Robb SA, Page R, Rose M, Palace J, Crowe C, Longman C, Lunn MP, Rahman S, Reilly MM, Hanna MG. Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease. Neurology. Sep 11 2012;79(11):1145-1154. PMID: 22933740, PMCID: PMC3525307
  72. Ramdharry GM, Day BL, Reilly MM, Marsden JF. Foot drop splints improve proximal as well as distal leg control during gait in Charcot-Marie-Tooth disease. Muscle Nerve. Oct 2012;46(4):512- 519. PMID: 22987691
  73. Zimon M, Baets J, Almeida-Souza L, De Vriendt E, Nikodinovic J, Parman Y, Battaloglu E, Matur Z, Guergueltcheva V, Tournev I, Auer-Grumbach M, De Rijk P, Petersen BS, Muller T, Fransen E, Van Damme P, Loscher WN, Barisic N, Mitrovic Z, Previtali SC, Topaloglu H, Bernert G, Beleza- Meireles A, Todorovic S, Savic-Pavicevic D, Ishpekova B, Lechner S, Peeters K, Ooms T, Hahn AF, Zuchner S, Timmerman V, Van Dijck P, Rasic VM, Janecke AR, De Jonghe P, Jordanova A. Loss-of- function mutations in HINT1 cause axonal neuropathy with neuromyotonia. Nat. Genet. Oct 2012;44(10):1080-1083. PMID: 22961002
  74. Scherer SS, Kleopa KA. X-linked Charcot-Marie-Tooth disease. J. Peripher. Nerv. Syst. Dec 2012;17 Suppl 3:9-13. PMID: 23279425, PMCID: PMC3779456
  75. Estilow T, Kozin SH, Glanzman AM, Burns J, Finkel RS. Flexor digitorum superficialis opposition tendon transfer improves hand function in children with Charcot-Marie-Tooth disease: case series. Neuromuscul. Disord. Dec 2012;22(12):1090-1095. PMID: 22944171, PMCID: PMC3883304
  76. Fawcett KA, Murphy SM, Polke JM, Wray S, Burchell VS, Manji H, Quinlivan RM, Zdebik AA, Reilly MM, Houlden H. Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls. J. Neurol. Neurosurg. Psychiatry. Dec 2012;83(12):1204-1209. PMID: 22851605
  77. Patzko A, Bai Y, Saporta MA, Katona I, Wu X, Vizzuso D, Feltri ML, Wang S, Dillon LM, Kamholz J, Kirschner D, Sarkar FH, Wrabetz L, Shy ME. Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice. Brain. Dec 2012;135(Pt 12):3551- 3566. PMID: 23250879, PMCID: PMC3577101
  78. Ramdharry GM, Thornhill A, Mein G, Reilly MM, Marsden JF. Exploring the experience of fatigue in people with Charcot-Marie-Tooth disease. Neuromuscul. Disord. Dec 2012;22 Suppl 3:S208- 213. PMID: 23182641
  79. Kleopa KA, Abrams CK, Scherer SS. How do mutations in GJB1 cause X-linked Charcot-Marie- Tooth disease? Brain Res. Dec 3 2012;1487:198-205. PMID: 22771394, PMCID: PMC3488165
  80. Tesson C, Nawara M, Salih MA, et al. Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. Am. J. Hum. Genet. Dec 7 2012;91(6):1051-1064. PMID: 23176821, PMCID: PMC3516610
  81. Saporta MA, Shy ME. Inherited peripheral neuropathies. Neurol Clin. 2013;31(2):597-619. PMID: 23642725, PMCID: PMC3646296
  82. Vester A, Velez-Ruiz G, McLaughlin HM, et al. A loss-of-function variant in the human histidyl- tRNA synthetase (HARS) gene is neurotoxic in vivo. Hum. Mutat. Jan 2013;34(1):191-199. PMID: 22930593, PMCID: PMC3535524
  83. Stevens JC, Murphy SM, Davagnanam I, Phadke R, Anderson G, Nethisinghe S, Bremner F, Giunti P, Reilly MM. The ARSACS phenotype can include supranuclear gaze palsy and skin lipofuscin deposits. J. Neurol. Neurosurg. Psychiatry. Jan 2013;84(1):114-116. PMID: 23123642
  84. Martin E, Schule R, Smets K, et al. Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. Am. J. Hum. Genet. Feb 7 2013;92(2):238- 244. PMID: 23332916, PMCID: PMC3567271
  85. Komyathy K, Neal S, Feely S, Miller LJ, Lewis RA, Trigge G, Siskind CE, Shy ME, Ramchandren S. Anterior tibialis CMAP amplitude correlations with impairment in CMT1A. Muscle Nerve. Apr 2013;47(4):493-496. PMID: 23456782, PMCID: PMC3608739
  86. Kennerson ML, Yiu EM, Chuang DT, et al. A new locus for X-linked dominant Charcot-Marie- Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene. Hum. Mol. Genet. Apr 1 2013;22(7):1404-1416. PMID: 23297365, PMCID: PMC3596851
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