Recent Publications

De Wel, B, Mobach, T, Pfeffer, G, Jewett, G. Tofersen treatment normalizes neurofilament levels in autosomal recessive SOD1 Amyotrophic Lateral Sclerosis. Can J Neurol Sci. 2025. 1-6 PMID:40605360

Vandal, M, Janmaleki, M, Rea, I, Gunn, C, Hirai, S, Biernaskie, J et al.. CD2AP at the junction of nephropathy and Alzheimer's disease. Mol Neurodegener. 2025.20 (1)63 PMID:40462155

Osman, H, Adamji, Z, Pfeffer, G, Warman-Chardon, J, Varma, P, Keindel, J et al.. From Doubt to Diagnosis: Canadian Patient Perspectives on a Limb-Girdle Muscular Dystrophy Diagnosis. Health Expect. 2025.28 (3)e70271 PMID:40323721

Cuillerier, A, Del Gobbo, GF, Mackay, L, Wall, E, Couse, M, McDonell, LM et al.. FGF14 GAA Intronic Expansion in Unsolved Adult-Onset Ataxia in the Care4Rare Canada Consortium. Ann Clin Transl Neurol. 2025.12 (6)1118-1125 PMID:40191983

Zaman, M, Sharma, G, Almutawa, W, Soule, TG, Sabouny, R, Joel, M et al.. The MFN2 Q367H variant reveals a novel pathomechanism connected to mtDNA-mediated inflammation. Life Sci Alliance. 2025.8 (6) PMID:40175090

Baron, KR, Oviedo, S, Krasny, S, Zaman, M, Aldakhlallah, R, Bora, P et al.. Pharmacologic activation of integrated stress response kinases inhibits pathologic mitochondrial fragmentation. Elife. 2025.13 PMID:39937095

Mascarenhas, R, Merrikh, D, Khanbabaei, M, Kaur, N, Ghaderi, N, Maroilley, T et al.. Detecting somatic variants in purified brain DNA obtained from surgically implanted depth electrodes in epilepsy. Epilepsia. 2025.66 (4)1234-1249 PMID:39751777

Sharkey, RJ, Cortese, F, Goodyear, BG, Korngut, LW, Jacob, SM, Sharkey, KA et al.. Longitudinal analysis of glymphatic function in amyotrophic lateral sclerosis and primary lateral sclerosis. Brain. 2024.147 (12)4026-4032 PMID:39241118

Jacob, SM, Lee, S, Kim, SH, Sharkey, KA, Pfeffer, G, Nguyen, MD et al.. Brain-body mechanisms contribute to sexual dimorphism in amyotrophic lateral sclerosis. Nat Rev Neurol. 2024.20 (8)475-494 PMID:38965379