Journal Articles
  1. Placek K, Benatar M, Wuu J, et al. Machine learning suggests polygenic risk for cognitive dysfunction in amyotrophic lateral sclerosis. . EMBO Mol Med. 2020 Dec 3;e12595. PMID: 3327098
  2. Benatar M, Zhang L, Wang L, et al. Validation of serum neurofilaments as prognostic and potential pharmacodynamic biomarkers for ALS. Neurology. 2020 Jul 7;95(1):e59-e69. PMID: 32385188, PMCID: PMC7371380
  3. Lombardi V, Carassiti D, Giovannoni G, et al. The potential of neurofilaments analysis using dry-blood and plasma spots. Sci Rep. 2020 Jan 9;10(1):97. PMID: 31919375, PMCID: PMC6952412
  4. Bereman M, Kirkwood K, Sabaretnam T, et al. Metabolite Profiling Reveals Predictive Biomarkers and the Absence of β-Methyl Amino-l-alanine in Plasma from Individuals Diagnosed with Amyotrophic Lateral Sclerosis. J Proteome Res. 2020 Aug 7;19(8):3276-328. PMID: 32418425
  5. Andrade N, Ramic M, Esanov R, et al. Dipeptide repeat proteins inhibit homology-directed DNA double strand break repair in C9ORF72 ALS/FTD. Mol Neurodegener. 2020; 15: 13. PMCID:PMC7041170, PMID: 32093728
  6. Figueroa-Romero C,1, Guo K,2, Murdock BJ, et al. Temporal evolution of the microbiome, immune system and epigenome with disease progression in ALS mice. Dis Model Mech. 2020 Feb 1; 13(2). PMCID: PMC6906635, PMID: 31597644
  7. Farhan S, Howrigan, Abbott L, et al. Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7 encoding a heat-shock protein. Nat Neurosci. 2019 Dec; 22(12): 1966–1974. PMCID: PMC6919277, PMID: 31768050
  8. Lingor P, Weber M, Camu W, et al. ROCK-ALS: Protocol for a Randomized, Placebo-Controlled, Double- Blind Phase IIa Trial of Safety, Tolerability and Efficacy of the Rho Kinase (ROCK) Inhibitor Fasudil in Amyotrophic Lateral Sclerosis. Front Neurol. 2019; 10: 293. PMCID: PMC6446974, PMID: 30972018
  9. Aladesuyi Arogundade O, Stauffer JE, Saberi S, et al. Antisense RNA foci are associated with nucleoli and TDP-43 mislocalization in C9orf72-ALS/FTD: a quantitative study. Acta Neuropathol. 2019. PMID: 30666413
  10. Karanevich AG, Weisbrod LJ, Jawdat O, et al. Using automated electronic medical record data extraction to model ALS survival and progression. BMC Neurol. 2018;18(1):205. PMID:30547800, PMCID: PMC6295028
  11. Placek K, Baer GM, Elman L, et al. UNC13A polymorphism contributes to frontotemporal disease in sporadic amyotrophic lateral sclerosis. Neurobiol Aging. 2019; 73:190-199. PMID:30368160, PMCID: PMC6251755
  12. Farhan SMK, Howrigan DP, Abbott L, et al. Enrichment of rare protein truncating variants in amyotrophic lateral sclerosis patients. bioRxiv. 2018
  13. 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
  14. 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
  15. 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
  16. 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
  17. Lassuthova P, Rebelo AP, Ravenscroft G, et al. Mutations in ATP1A1 Cause Dominant CharcotMarie- Tooth Type 2. Am J Hum Genet. 2018;102(3):505-514. PMID: 29499166, PMCID: PMC5985288
  18. 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
  19. 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. PMID: 29361242
  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. 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
  22. 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
  23. 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
  24. Capturing clinical data to advance ALS research. 2017, EpicCare Ambulatory, 2017
  25. 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
  26. 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
  27. 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
  28. 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
  29. 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
  30. 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
  31. 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
  32. 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
  33. Rebelo A, Abrams A, Cottenie E, et al. Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy. Am J Hum Genet. 2016; 98(4):597-614. PMID: 27040688, PMCID: PMC4833435
  34. 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
  35. 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
  36. 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
  37. 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
  38. 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
  39. 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
  40. van Blitterswijk M, Rademakers R. Neurodegenerative disease: C9orf72 repeats compromise nucleocytoplasmic transport. Nature reviews. Neurology. Dec 2015;11(12):670-672. PMID: 26526532
  41. 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
  42. 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