Recent Publications

Osman, H, Adamji, Z, Lintern, S, Smith, IC, Grant, A, Lessard, LER et al.. Counting the Cost: The Hidden Financial Realities of Neuromuscular Disease Through Patient and Family Perspectives. Health Expect. 2025.28 (6)e70529 PMID:41405177

Saunders, N, Magnussen, C, Kang, H, Blais, M, Bhinder, H, Pfeffer, G et al.. Comprehensive analysis platform to understand, remedy, and eliminate amyotrophic lateral sclerosis (CAPTURE ALS): Study protocol for a Canadian multicenter, multimodal, longitudinal observational study. PLoS One. 2025.20 (12)e0332430 PMID:41343582

Jewett, G, Luk, C, Osman, H, Pfeffer, G. Conference proceedings from the Western Canadian Neuromuscular Conference (WCNMC) - September 27-29, 2024, Calgary, Canada. J Neuromuscul Dis. 2025. 22143602251389759 PMID:41117436

Schellenberg, KL, Caspar-Bell, G, Ellis, C, Johnston, W, King, A, King, M et al.. Best practice recommendations for the clinical care of spinal bulbar muscular atrophy. CMAJ. 2025.197 (31)E987-E999 PMID:40983380

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. 2025.197 (12)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