Recent Publications

Grant, A, Smith, IC, Lessard, LER, Osman, H, Lochmuller, H, McMillan, HJ et al.. Financial Toxicity and Its Determinants in Individuals Living With Inherited and Acquired Neuromuscular Disorders: The BIND Study. Neurology. 2025.105 (5)e213982 PMID:40834345

Smith, IC, Abusetah, Y, Osman, H, Garg, A, Grant, A, Lochmuller, H et al.. Assessing the socio-economic burden of inherited and inflammatory neuromuscular diseases (BIND study): a study protocol. Orphanet J Rare Dis. 2025.20 (1)404 PMID:40770363

Alsayed, A, Hakim, Z, Merrikh, D, Khanbabaei, M, Kaur, N, Hader, W et al.. Identification of a Second-Hit Brain Somatic DEPDC5 Variant Supports Causality of a DEPDC5 Germline Variant of Uncertain Significance. Time for a Classification Update?. Am J Med Genet A. 2025. e64204 PMID:40742146

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. 1-2 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