Publications & Talks
Our Research / Publications & Talks
Validation of serum neurofilaments as prognostic and potential pharmacodynamic biomarkers for ALS.
Benatar M, Zhang L, Wang L, Granit V, Statland J, Barohn R, Swenson A, Ravits J, Jackson C, Burns TM, Trivedi J, Pioro EP, Caress J, Katz J, McCauley JL, Rademakers R, Malaspina A, Ostrow LW, Wuu J; CReATe Consortium. Validation of serum neurofilaments as prognostic and potential pharmacodynamic biomarkers for ALS. Neurology. 2020 Jul 7;95(1):e59-e69. Epub 2020 May 8.
PubMed LinkDipeptide repeat proteins inhibit homology-directed DNA double strand break repair in C9ORF72 ALS/FTD.
Andrade NS, Ramic M, Esanov R, Liu W, Rybin MJ, Gaidosh G, Abdallah A, Del'Olio S, Huff TC, Chee NT, Anatha S, Gendron TF, Wahlestedt C, Zhang Y, Benatar M, Mueller C, Zeier Z. Dipeptide repeat proteins inhibit homology-directed DNA double strand break repair in C9ORF72 ALS/FTD. Mol Neurodegener. 2020 Feb 24;15(1):13.
PubMed LinkPrimary lateral sclerosis: consensus diagnostic criteria.
Turner MR, Barohn RJ, Corcia P, Fink JK, Harms MB, Kiernan MC, Ravits J, Silani V, Simmons Z, Statland J, van den Berg LH; Delegates of the 2nd International PLS Conference, Mitsumoto H. Primary lateral sclerosis: consensus diagnostic criteria. J Neurol Neurosurg Psychiatry. 2020 Apr;91(4):373-377. Epub 2020 Feb 6.
PubMed LinkExome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein.
Farhan SMK, Howrigan DP, Abbott LE, Klim JR, Topp SD, Byrnes AE, Churchhouse C, Phatnani H, Smith BN, Rampersaud E, Wu G, Wuu J, Shatunov A, Iacoangeli A, Al Khleifat A, Mordes DA, Ghosh S; ALSGENS Consortium; FALS Consortium; Project MinE Consortium; CReATe Consortium, Eggan K, Rademakers R, McCauley JL, Schüle R, Züchner S, Benatar M, Taylor JP, Nalls M, Gotkine M, Shaw PJ, Morrison KE, Al-Chalabi A, Traynor B, Shaw CE, Goldstein DB, Harms MB, Daly MJ, Neale BM. Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein. Nat Neurosci. 2019 Dec;22(12):1966-1974. Epub 2019 Nov 25.
PubMed LinkPediatric Cancer Variant Pathogenicity Information Exchange (PeCanPIE): a cloud-based platform for curating and classifying germline variants.
Edmonson MN, Patel AN, Hedges DJ, Wang Z, Rampersaud E, Kesserwan CA, Zhou X, Liu Y, Newman S, Rusch MC, McLeod CL, Wilkinson MR, Rice SV, Soussi T, Taylor JP, Benatar M, Becksfort JB, Nichols KE, Robison LL, Downing JR, Zhang J. Pediatric Cancer Variant Pathogenicity Information Exchange (PeCanPIE): a cloud-based platform for curating and classifying germline variants. Genome Res. 2019 Sep;29(9):1555-1565. Epub 2019 Aug 22.
PubMed LinkNeurofilaments in pre-symptomatic ALS and the impact of genotype.
Benatar M, Wuu J, Lombardi V, Jeromin A, Bowser R, Andersen PM, Malaspina A. Neurofilaments in pre-symptomatic ALS and the impact of genotype. Amyotroph Lateral Scler Frontotemporal Degener. 2019 Nov;20(7-8):538-548. Epub 2019 Aug 21.
PubMed LinkAn endogenous peptide marker differentiates SOD1 stability and facilitates pharmacodynamic monitoring in SOD1 amyotrophic lateral sclerosis.
Gertsman I, Wuu J, McAlonis-Downes M, Ghassemian M, Ling K, Rigo F, Bennett F, Benatar M, Miller TM, Da Cruz S. An endogenous peptide marker differentiates SOD1 stability and facilitates pharmacodynamic monitoring in SOD1 amyotrophic lateral sclerosis. JCI Insight. 2019 May 16;4(10):e122768.
PubMed LinkA phase III trial of tirasemtiv as a potential treatment for amyotrophic lateral sclerosis.
Shefner JM, Cudkowicz ME, Hardiman O, Cockcroft BM, Lee JH, Malik FI, Meng L, Rudnicki SA, Wolff AA, Andrews JA; VITALITY-ALS Study Group. A phase III trial of tirasemtiv as a potential treatment for amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener. 2019;0(0):1-11.
PubMed LinkROCK-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.
Lingor P, Weber M, Camu W, Friede T, Hilgers R, Leha A, Neuwirth C, Günther R, Benatar M, Kuzma-Kozakiewicz M, Bidner H, Blankenstein C, Frontini R, Ludolph A, Koch JC; ROCK-ALS Investigators. 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 Mar 27;10:293.
PubMed LinkDefining pre-symptomatic amyotrophic lateral sclerosis.
Benatar M, Turner MR, Wuu J. Defining pre-symptomatic amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener. 2019 Aug;20(5-6):303-309. Epub 2019 Mar 20.
PubMed LinkRevised Airlie House consensus guidelines for design and implementation of ALS clinical trials.
van den Berg LH, Sorenson E, Gronseth G, Macklin EA, Andrews J, Baloh RH, Benatar M, Berry JD, Chio A, Corcia P, Genge A, Gubitz AK, Lomen-Hoerth C, McDermott CJ, Pioro EP, Rosenfeld J, Silani V, Turner MR, Weber M, Brooks BR, Miller RG, Mitsumoto H; Airlie House ALS Clinical Trials Guidelines Group. Revised Airlie House consensus guidelines for design and implementation of ALS clinical trials. Neurology. 2019 Apr 2;92(14):e1610-e1623. Epub 2019 Mar 8.
PubMed LinkReducing sample size requirements for future ALS clinical trials with a dedicated electrical impedance myography system.
Shefner JM, Rutkove SB, Caress JB, Benatar M, David WS, Cartwright MS, Macklin EA, Bohorquez JL. Reducing sample size requirements for future ALS clinical trials with a dedicated electrical impedance myography system. Amyotroph Lateral Scler Frontotemporal Degener. 2018 Nov;19(7-8):555-561. Epub 2018 Sep 28.
PubMed LinkNeurofilament light: A candidate biomarker of presymptomatic amyotrophic lateral sclerosis and phenoconversion.
Benatar M, Wuu J, Andersen PM, Lombardi V, Malaspina A. Neurofilament light: A candidate biomarker of presymptomatic amyotrophic lateral sclerosis and phenoconversion. Ann Neurol. 2018 Jul;84(1):130-139. Epub 2018 Aug 16.
PubMed LinkImpaired corticomuscular and interhemispheric cortical beta oscillation coupling in amyotrophic lateral sclerosis.
Proudfoot M, van Ede F, Quinn A, Colclough GL, Wuu J, Talbot K, Benatar M, Woolrich MW, Nobre AC, Turner MR. Impaired corticomuscular and interhemispheric cortical beta oscillation coupling in amyotrophic lateral sclerosis. Clin Neurophysiol. 2018 Jul;129(7):1479-1489. Epub 2018 Apr 6.
PubMed LinkIncreased cerebral functional connectivity in ALS: A resting-state magnetoencephalography study.
Proudfoot M, Colclough GL, Quinn A, Wuu J, Talbot K, Benatar M, Nobre AC, Woolrich MW, Turner MR. Increased cerebral functional connectivity in ALS: A resting-state magnetoencephalography study. Neurology. 2018 Apr 17;90(16):e1418-e1424. Epub 2018 Mar 21.
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