Jean Mah

Principal Applicant
Pediatrics and Clinical Neurosciences Professor at the Cumming School of Medicine
Pediatric Neurologist and the Director of the Pediatric Neuromuscular Program at the Alberta Children’s Hospital
NMD4C Involvement: Pillar 2: Clinical Research, Theme 5: Open Science
Biography
Dr. Jean Mah is a pediatric neurologist and the director of the Pediatric Neuromuscular Program at the Alberta Children’s Hospital in Calgary, Alberta, Canada. She is a Professor of Pediatrics and Clinical Neurosciences at the Cumming School of Medicine, University of Calgary. She is currently involved in multicenter clinical research studies related to pediatric neuromuscular diseases.
Recent Publications
Mah, JK. Therapeutic options for Duchenne muscular dystrophy: hope or hype?. Ther Adv Neurol Disord. 2025.18 17562864251346326 PMID:40547866
Gauvreau, G, Behlim, T, Ng, P, Hodgkinson, V, Selby, K, Mah, JK et al.. Respiratory and Bulbar Support in Spinal Muscular Atrophy Type I Treated with Nusinersen. Can J Neurol Sci. 2025. 1-8 PMID:40357918
Tsampalieros, A, McKim, D, Barrowman, N, Bijelic, V, Mah, JK, McMillan, HJ et al.. Lung Volume Recruitment and Quality of Life in Duchenne Muscular Dystrophy: Secondary Analysis of the STEADFAST Randomized Controlled Trial. Ann Am Thorac Soc. 2025. PMID:40185084
Qian, C, Klimchak, AC, Szabo, SM, Gooch, KL, Dragan, R, Prior, HJ et al.. Longitudinal Outcomes Among Patients With Duchenne Muscular Dystrophy: A Canadian Retrospective Population-Based Study. Muscle Nerve. 2025.71 (6)955-962 PMID:39945205
McMillan, HJ, Gonorazky, H, Campbell, C, Chrestian, N, Crone, M, Dowling, JJ et al.. Equitable Access to Disease-Modifying Therapies for Canadian Children with SMA and Four SMN2 Copies. Can J Neurol Sci. 2024. 1-3 PMID:39534980
Mercuri, E, Vilchez, JJ, Boespflug-Tanguy, O, Zaidman, CM, Mah, JK, Goemans, N et al.. Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. Lancet Neurol. 2024.23 (4)393-403 PMID:38508835
Dang, UJ, Damsker, JM, Guglieri, M, Clemens, PR, Perlman, SJ, Smith, EC et al.. Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled Trial. Neurology. 2024.102 (5)e208112 PMID:38335499
Price, TR, Hodgkinson, V, Westbury, G, Korngut, L, Innes, MA, Marshall, CR et al.. A Study on the Incidence and Prevalence of 5q Spinal Muscular Atrophy in Canada Using Multiple Data Sources. Can J Neurol Sci. 2024.51 (5)660-671 PMID:38178730
Niri, F, Nicholls, J, Baptista Wyatt, K, Walker, C, Price, T, Kelln, R et al.. Alberta Spinal Muscular Atrophy Newborn Screening-Results from Year 1 Pilot Project. Int J Neonatal Screen. 2023.9 (3) PMID:37606479
Clemens, PR, Rao, VK, Connolly, AM, Harper, AD, Mah, JK, McDonald, CM et al.. Efficacy and Safety of Viltolarsen in Boys With Duchenne Muscular Dystrophy: Results From the Phase 2, Open-Label, 4-Year Extension Study. J Neuromuscul Dis. 2023.10 (3)439-447 PMID:37005891
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