Publications & Talks
Our Research / Publications & Talks
Longitudinal plasma proteomics predict phenoconversion to clinically manifest ALS.
Ran X, Wuu J, Qin ZS, McDermott MP, Cooper-Knock J, Li Y, Granit V, Grignon AL, Lin E, Fernandez MC, Colato D, Carberry N, Lill CM, Piazza P, Malaspina A, Benatar M. Longitudinal plasma proteomics predict phenoconversion to clinically manifest ALS. Nature Medicine, 2026. Online ahead of print. https://www.nature.com/articles/s41591-026-04528-x. [PubMed link: 42509371]
PubMed LinkA mutation in the nuclear speckle and splicing factor SRRM2 is associated with multisystem proteinopathy and causes dysregulation of synapse-associated genes.
Shi Q, Lauder C, Miller JM, Wang YD, Elsakrmy N, Volkanoska S, Freibaum BD, Wuu J, Benatar M, Peng H, Kim HJ, Taylor JP, Cui H. A mutation in the nuclear speckle and splicing factor SRRM2 is associated with multisystem proteinopathy and causes dysregulation of synapse-associated genes. RNA. 2026 Jun 22:rna.080836.125. Online ahead of print. [PubMed link: 42309671]
PubMed LinkLikelihood-based modeling of covariate-specific time-dependent receiver operating characteristic curve.
Sewak A, Inácio V, Wuu J, Benatar M, Hothorn T. Likelihood-based modeling of covariate-specific time-dependent receiver operating characteristic curves. Stat Methods Med Res. 2026 Jun;35(6):1325-1346. Epub 2026 May 20. [PubMed link: 42159475]
PubMed LinkIsomiR utility in amyotrophic lateral sclerosis prognostication.
Cohen Y, Sinai I, Magen I, Danino YM, Wuu J, Malaspina A, Benatar M, Hornstein E. IsomiR utility in amyotrophic lateral sclerosis prognostication. Med. 2026 Feb 13;7(2):100928. Epub 2025 Nov 21. [PubMed link: 41274292]
PubMed LinkShared burden of ultra-rare genetic variants across a spectrum of motor neuron diseases.
Wu G, Chen W, Wuu J, Jain A, Myers J, Cordts I, Rampersaud E, Heckmann JM, Nel M, Granit V, Statland J, Swenson A, Ravits J, McMillan CT, Elman L, Caress J, Burns TM, Pioro EP, Trivedi J, Katz J, Jackson C, Maiser S, Walk D, So Y, McCauley JL, Baker MC, Taylor JP, Zuchner S, Rademakers R, van Blitterswijk M, Benatar M. Shared burden of ultra-rare genetic variants across a spectrum of motor neuron diseases. Transl Neurodegener. 2025 Oct 29;14(1):54. [PubMed link: 41152957]
PubMed LinkAuthor Response: Genetic Associations With an Amyotrophic Lateral Sclerosis Reversal Phenotype.
Crayle JI, Rampersaud E, Myers JR, Wuu J, Wu G, Benatar M, Bedlack RS. Author Response: Genetic Associations With an Amyotrophic Lateral Sclerosis Reversal Phenotype. Neurology. 2025 Nov 11;105(9):e210166. Epub 2025 Oct 3. [PubMed link: 41043093]
PubMed LinkDivergent Brain Network Activity in Asymptomatic C9orf72 and SOD1 Variant Carriers Compared With Established Amyotrophic Lateral Sclerosis.
Trubshaw M, Gohil C, Edmond E, Proudfoot M, Yoganathan K, Wuu J, Northall A, Kohl O, Stagg CJ, Nobre AC, Talbot K, Thompson AG, Benatar M, Woolrich M, Turner MR. Divergent Brain Network Activity in Asymptomatic C9orf72 and SOD1 Variant Carriers Compared With Established Amyotrophic Lateral Sclerosis. Hum Brain Mapp. 2025 Oct 1;46(14):e70345. [PubMed link: 41042072]
PubMed LinkSkeletal Muscle Biomarkers of Amyotrophic Lateral Sclerosis: A Large-Scale, Multi-Cohort Proteomic Study.
Dergai O, Wuu J, Koziczak-Holbro M, Malaspina A, Granit V, Hernandez JP, Cooley A, Sachdev R, Yu L, Bidinosti M, Flotte L, Nash M, Jennings LL, Berry JD, Bruijn LI, Brachat S, Benatar M. Skeletal Muscle Biomarkers of Amyotrophic Lateral Sclerosis: A Large-Scale, Multi-Cohort Proteomic Study. Ann Neurol. 2026 Feb;99(2):393-407. Epub 2025 Sep 29. [PubMed link: 41020397]
PubMed LinkMultimodal Neuroimaging-Guided Stratification in Amyotrophic Lateral Sclerosis Reveals Three Disease Subtypes: A Multi-Cohort Analysis.
Baumeister TR, Westeneng HJ, van den Berg L; Canadian ALS Neuroimaging Consortium (CALSNIC); Kalra S, Iturria-Medina Y. Multimodal Neuroimaging-Guided Stratification in Amyotrophic Lateral Sclerosis Reveals Three Disease Subtypes: A Multi-Cohort Analysis. Hum Brain Mapp. 2025 Oct 1;46(14):e70341. [PubMed link: 40990258]
PubMed LinkProgressive and short-interval changes observed in the corticospinal tract and corpus callosum of ALS patients: A texture analysis study.
Parnianpour P, Harrison M, Benatar M, Briemberg H, Dionne A, Dupré N, Frayne R, Genge A, Graham SJ, Korngut L, Seres P, Wilman A, Zinman L; Canadian ALS Neuroimaging Consortium (CALSNIC); Kalra S. Progressive and short-interval changes observed in the corticospinal tract and corpus callosum of ALS patients: A texture analysis study. AJNR Am J Neuroradiol. 2025 Sep 18:ajnr.A9013. Online ahead of print. [PubMed link: 40968018]
PubMed LinkMeasuring neurofilament light in human plasma and cerebrospinal fluid: a comparison of five analytical immunoassays.
Sheth U, Harrison R, Ferber K, Rosenbaugh EG, Bevis A, Khillan R, Benatar M, Bjorklund NL, Di Daniel E, Harris GA, Kahn OI, Liu Y, Zetterberg H, Mitic LL, Graham D, Gendron TF. Measuring neurofilament light in human plasma and cerebrospinal fluid: a comparison of five analytical immunoassays. Clin Chem Lab Med. 2025 Sep 8. Online ahead of print. [PubMed link: 40958756]
PubMed LinkGeneration and characterization of two pluripotent stem cell lines from Primary Lateral Sclerosis (PLS) patients.
Laverde-Paz MJ, Maki K, Melo-Escobar I, McCartan R, Benatar M, Wuu J, Zeier Z. Generation and characterization of two pluripotent stem cell lines from Primary Lateral Sclerosis (PLS) patients. Stem Cell Res. 2025 Sep 8;88:103828. Epub 2025 Sep 8. [PubMed link: 40957373]
PubMed LinkIdentification of a presymptomatic and early disease signature for amyotrophic lateral sclerosis (ALS): protocol of the premodiALS study.
Tzeplaeff L, Galhoz A, Meijs C, Caldi Gomes L, Kovac A, Menzel A, Değirmenci H, Alaamel A, Kaya HC, Çelik AG, Dinçer S, Korucuk M, Karaüzüm SB, Bayraktar E, Çiftçi V, Bilge U, Koç F, Demleitner AF, Buchberger A, von Heynitz R, Gmeiner V, Knellwolf C, Mouzouri M, Wuu J, Başak AN, Andersen PM, Kohlmayer F, Ashton NJ, Kuban W, Lenz C, Rogers ML, Zilka N, Corcia P, Lerner Y, Weber M, Turcanova Koprusakova M, Uysal H, Benatar M, Menden MP, Lingor P. Identification of a presymptomatic and early disease signature for amyotrophic lateral sclerosis (ALS): protocol of the premodiALS study. Neurol Res Pract. 2025 Aug 19;7(1):56. [PubMed link: 40830802]
PubMed LinkDesign considerations for C9orf72 disease prevention trials.
Benatar M, Staffaroni AM, Wuu J, McDermott MP, Quintana M, Swidler J, Andersen G, Huey ED, Turner MR, Macklin EA, Berry JD, McMillan CT, Gendron T, Onyike C, Rosen H, Heuer HW, Grignon AL, Dave KD, Balas C, Gleixner A, Satlin A, Dunn B, Dacks P, Boxer AL. Design considerations for C9orf72 disease prevention trials. Brain. 2025 Nov 4;148(11):3844-3855. Epub 2025 Aug 5. [PubMed link: 40794569]
PubMed LinkProposed research criteria for mild motor impairment as a prodromal syndrome in amyotrophic lateral sclerosis.
Benatar M, Cai X, McDermott MP, Granit V, Grignon AL, Colato D, Fernandez MC, Li Y, McBane K, Mesa L, Stanislaw C, Andersen PM, Carberry N, Wuu J. Proposed research criteria for mild motor impairment as a prodromal syndrome in amyotrophic lateral sclerosis. Neurology. 2025 Aug 26;105(4):e213917. Epub 2025 Jul 28. [PubMed link: 40720712]
PubMed Link