Journal Articles

  1. Turner MR, Benatar M. Ensuring continued progress in biomarkers for amyotrophic lateral sclerosis. Muscle Nerve. Jan 2015;51(1):14-18. PMID: 25288265, PMCID: PMC4270289
  2. Rossor AM, Oates EC, Salter HK, et al. Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2. Brain. Feb 2015;138(Pt 2):293-310. PMID: 25497877, PMCID: PMC4306822
  3. Gendron TF, van Blitterswijk M, Bieniek KF, et al. Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers. Acta Neuropathol. Oct 2015;130(4):559-573. PMID: 26350237, PMCID: PMC4575385
  4. van Blitterswijk M, Gendron TF, Baker MC, et al. Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72. Acta Neuropathol. Oct 5 2015. PMID: 26437865, PMCID: PMC4655160
  5. van Blitterswijk M, Rademakers R. Neurodegenerative disease: C9orf72 repeats compromise nucleocytoplasmic transport. Nature reviews. Neurology. Dec 2015;11(12):670-672. PMID: 26526532
  6. Liu Y, Pattamatta A, Zu T, et al. C9orf72 BAC Mouse Model with Motor Deficits and Neurodegenerative Features of ALS/FTD. Neuron. 2016;90(3):521-534. PMID: 27112499
  7. Murdock BJ, Bender DE, Kashlan SR, et al. Increased ratio of circulating neutrophils to monocytes in amyotrophic lateral sclerosis. Neurology(R) neuroimmunology & neuroinflammation. 2016;3(4):e242. PMID: 27308304, PMCID: PMC4897983
  8. Benatar M, Boylan K, Jeromin A, et al. ALS biomarkers for therapy development: State of the field and future directions. Muscle Nerve. Feb 2016;53(2):169-182. PMID: 26574709, PMCID: PMC4718795
  9. Esanov R, Belle KC, van Blitterswijk M, et al. C9orf72 promoter hypermethylation is reduced while hydroxymethylation is acquired during reprogramming of ALS patient cells. Exp. Neurol. Mar 2016;277:171-177. PMID: 26746986, PMCID: PMC4761318
  10. Capturing clinical data to advance ALS research. https://galaxy.epic.com/Redirect.aspx?DocumentID=3701881&Version=Epic 2017, EpicCare Ambulatory, 2017
  11. DeJesus-Hernandez M, Finch NA, Wang X, et al. In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriers. Acta Neuropathol. 2017;134(2):255- 269. PMID: 28508101, PMCID: PMC5508036
  12. Esanov R, Cabrera GT, Andrade NS, et al. A C9ORF72 BAC mouse model recapitulates key epigenetic perturbations of ALS/FTD. Mol Neurodegener. 2017;12(1):46. PMID: 28606110, PMCID: PMC5468954
  13. Finch NA, Wang X, Baker MC, et al. Abnormal expression of homeobox genes and transthyretin in C9ORF72 expansion carriers. Neurology Genetics. 2017;3(4):e161. PMID: 28660252, PMCID: PMC5479438
  14. Gendron TF, Chew J, Stankowski JN, et al. Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis. Sci Transl Med. 2017;9(383). PMID: 28356511, PMCID: PMC5576451
  15. Gendron TF, Daughrity LM, Heckman MG, et al. Phosphorylated neurofilament heavy chain: A biomarker of survival for C9ORF72-associated amyotrophic lateral sclerosis. Ann Neurol. 2017;82(1):139-146. PMID: 28628244, PMCID: PMC5676468
  16. Jacquier A, Delorme C, Belotti E, et al. Cryptic amyloidogenic elements in mutant NEFH causing Charcot-Marie-Tooth 2 trigger aggresome formation and neuronal death. Acta neuropathologica communications. 2017;5(1):55. PMID: 28709447, PMCID: PMC5513089
  17. Mackenzie IR, Nicholson AM, Sarkar M, et al. TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics. Neuron. 2017;95(4):808-816.e809. PMID: 28817800, PMCID: PMC5576574
  18. Murdock BJ, Zhou T, Kashlan SR, Little RJ, Goutman SA, Feldman EL. Correlation of Peripheral Immunity With Rapid Amyotrophic Lateral Sclerosis Progression. JAMA neurology. 2017. PMID: 28973548, PMCID: PMC5822195
  19. Prudencio M, Gonzales PK, Cook CN, et al. Repetitive element transcripts are elevated in the brain of C9orf72 ALS/FTLD patients. Hum Mol Genet. 2017;26(17):3421-3431. PMID: 28637276
  20. Schols L, Rattay TW, Martus P, et al. Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial. Brain. 2017;140(12):3112-3127. PMID: 29126212, PMCID: PMC5841036
  21. Shepheard SR, Wuu J, Cardoso M, et al. Urinary p75ECD: A prognostic, disease progression, and pharmacodynamic biomarker in ALS. Neurology. 2017;88(12):1137-1143. PMID: 28228570, PMCID: PMC5373786
  22. Strong MJ, Abrahams S, Goldstein LH, et al. Amyotrophic lateral sclerosis - frontotemporal spectrum disorder (ALS-FTSD): Revised diagnostic criteria. Amyotrophic lateral sclerosis & frontotemporal degeneration. 2017;18(3-4):153-174. PMID: 28054827
  23. Chen J, Kostenko V, Pioro EP, Trapp BD. MR Imaging-based Estimation of Upper Motor Neuron Density in Patients with Amyotrophic Lateral Sclerosis: A Feasibility Study. Radiology. 2018:162967. PMID: 29361242
  24. Farhan SMK, Howrigan DP, Abbott L, et al. Enrichment of rare protein truncating variants in amyotrophic lateral sclerosis patients. bioRxiv. 2018.
  25. Moens TG, Mizielinska S, Niccoli T, et al. Sense and antisense RNA are not toxic in Drosophila models of C9orf72-associated ALS/FTD. Acta Neuropathol. 2018;135(3):445-457. PMID: 29380049
  26. Nicolas A, Kenna KP, Renton AE, et al. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene. Neuron. 2018;97(6):1268-1283.e1266. PMID: 29566793, PMCID: PMC5867896
  27. Pottier C, Rampersaud E, Baker M, et al. Identification of compound heterozygous variants in OPTN in an ALS-FTD patient from the CReATe consortium: a case report. Amyotrophic lateral sclerosis & frontotemporal degeneration. 2018:1-3. PMID: 29558868
  28. Simone R, Balendra R, Moens TG, et al. G-quadruplex-binding small molecules ameliorate C9orf72 FTD/ALS pathology in vitro and in vivo. EMBO Mol Med. 2018;10(1):22-31. PMID: 29113975, PMCID: PMC5760849
  29. Wilke C, Rattay TW, Hengel H, et al. Serum neurofilament light chain is increased in hereditary spastic paraplegias. Annals of clinical and translational neurology. 2018;5(7):876-882. PMID: 30009206, PMCID: PMC6043776