null Maryam Oskoui, MD, MSc

Scientist, RI-MUHC, 5252 de Maisonneuve site

Child Health and Human Development Program

Centre for Outcomes Research and Evaluation

Associate Professor, Department of Pediatrics, Faculty of Medicine and Health Sciences, McGill University

Department of Pediatrics, Division of Neurology, MUHC



epidemiology • clinical trials • patient registries • neuromuscular disorders • pediatric neurology

Research Focus

My research focus is in pediatric rare and neuromuscular disorders with the aim to improve individual outcomes. My research team is involved in clinical trials and we also use patient registries to study the real-world effect of new treatments and changes in care. We are working with patient partners to develop more sensitive outcome measures to capture change that is meaningful to them. I am a co-principal investigator on a CIHR Strategy for Patient Oriented Research (SPOR) Innovative Clinical Trial focused on treatable rare diseases. We have co-designed an exergaming intervention for youth with spinal muscular atrophy that will be launched through a registry-based clinical trial. We are also studying, using specialized imaging techniques and neurodevelopmental phenotyping, how brain development differs in spinal muscular atrophy to develop future interventions to optimize healthy developmental trajectories. I also serve as an evidence-based methodologist for the American Academy of Neurology.

Selected Publications

Click on Pubmed to see my current publications list

  • Fehlings DL, Zarrei M, Engchuan W, Sondheimer N, Thiruvahindrapuram B, MacDonald JR, Higginbotham EJ, Thapa R, Behlim T, Aimola S, Switzer L, Ng P, Wei J, Danthi PS, Pellecchia G, Lamoureux S, Ho K, Pereira SL, de Rijke J, Sung WWL, Mowjoodi A, Howe JL, Nalpathamkalam T, Manshaei R, Ghaffari S, Whitney J, Patel RV, Hamdan O, Shaath R, Trost B, Knights S, Samdup D, McCormick A, Hunt C, Kirton A, Kawamura A, Mesterman R, Gorter JW, Dlamini N, Merico D, Hilali M, Hirschfeld K, Grover K, Bautista NX, Han K, Marshall CR, Yuen RKC, Subbarao P, Azad MB, Turvey SE, Mandhane P, Moraes TJ, Simons E, Maxwell G, Shevell M, Costain G, Michaud JL, Hamdan FF, Gauthier J, Uguen K, Stavropoulos DJ, Wintle RF, Oskoui M, Scherer SW. Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy. Nat Genet. 2024 Mar 29; 10.1038/s41588-024-01686-x. PMID: 38553553.

  • Oskoui M, Dangouloff T, Servais L. Universal Newborn Screening for Spinal Muscular Atrophy. JAMA Pediatr. 2024 Apr 8; 10.1001/jamapediatrics.2024.0489. PMID: 38587838.

  • Wolfson C, Gauvin DE, Ishola F, Oskoui M. The Global Prevalence and Incidence of Amyotrophic Lateral Sclerosis: A Systematic Review. Neurology. 2023 August; 101(6):e613-e723. PMID: 37308302.

  • Oskoui M, Day JW, Deconinck N, Mazzone ES, Nascimento A, Saito K, Vuillerot C, Baranello G, Goemans N, Kirschner J, Kostera-Pruszczyk A, Servais L, Papp G, Gorni K, Kletzl H, Marton C, McIver T, Scalco RS, Staunton H, Yeung WY, Fontoura P, Mercuri E; SUNFISH Working Group. Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA). J Neurol. 2023 May; 270(5):2531-2546. PMID: 36735057.

  • Oskoui M, Potter BK. Methodological challenges in measuring meaningful change in individuals with spinal muscular atrophy. Muscle Nerve. 2021 Dec;64(6):639-640. PMID: 34687231.