A systematic review and meta-analysis on the epidemiology of Duchenne and Becker muscular dystrophy

JK Mah, L Korngut, J Dykeman, L Day… - Neuromuscular …, 2014 - Elsevier
… Author links open overlay panel Jean K. Mah a b , Lawrence Korngut a c , Jonathan Dykeman
a c d e , Lundy Day a , Tamara Pringsheim a b , … JK Mah, K. Selby, C. Campbell, et al. …

A systematic review and meta-analysis on the epidemiology of the muscular dystrophies

JK Mah, L Korngut, KM Fiest, J Dykeman… - Canadian Journal of …, 2016 - cambridge.org
Background: The muscular dystrophies are a heterogeneous group of genetic muscle diseases
with variable distribution of weakness and mode of inheritance.Methods: We previously …

Current and emerging treatment strategies for Duchenne muscular dystrophy

JK Mah - Neuropsychiatric disease and treatment, 2016 - Taylor & Francis
Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy in
childhood. It is caused by mutations of the DMD gene, leading to progressive muscle weakness…

Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study

…, WD Biggar, LC McAdam, JK Mah… - The Lancet, 2018 - thelancet.com
Background Glucocorticoid treatment is recommended as a standard of care in Duchenne
muscular dystrophy; however, few studies have assessed the long-term benefits of this …

Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

…, KJ Jones, P Karachunski, M Kudr, T Lotze, JK Mah… - The Lancet, 2017 - thelancet.com
Background Duchenne muscular dystrophy (DMD) is a severe, progressive, and rare
neuromuscular, X-linked recessive disease. Dystrophin deficiency is the underlying cause of …

Clinical features and viral serologies in children with multiple sclerosis: a multinational observational study

…, A Boiko, O Bykova, E Waubant, JK Mah… - The Lancet …, 2007 - thelancet.com
Background The full spectrum of clinical manifestations and outcome, and the potential
importance of regional or demographic features or viral triggers in paediatric multiple sclerosis (…

Clinical, environmental, and genetic determinants of multiple sclerosis in children with acute demyelination: a prospective national cohort study

…, K Wambera, MB Connolly, J Yager, JK Mah… - The Lancet …, 2011 - thelancet.com
Background HLA-DRB1*15 genotype, previous infection with Epstein-Barr virus, and
vitamin D insufficiency are susceptibility factors for multiple sclerosis, but whether they act …

[HTML][HTML] The Role of PIEZO2 in Human Mechanosensation

…, C Stanley, AM Innes, JK Mah… - … England Journal of …, 2016 - Mass Medical Soc
Background The senses of touch and proprioception evoke a range of perceptions and rely
on the ability to detect and transduce mechanical force. The molecular and neural …

Large-scale serum protein biomarker discovery in Duchenne muscular dystrophy

…, YM Kobayashi, A Lorts, JK Mah… - Proceedings of the …, 2015 - National Acad Sciences
Serum biomarkers in Duchenne muscular dystrophy (DMD) may provide deeper insights into
disease pathogenesis, suggest new therapeutic approaches, serve as acute read-outs of …

Myostatin inhibitor ACE‐031 treatment of ambulatory boys with Duchenne muscular dystrophy: results of a randomized, placebo‐controlled clinical trial

C Campbell, HJ McMillan, JK Mah… - Muscle & …, 2017 - Wiley Online Library
Introduction: ACE‐031 is a fusion protein of activin receptor type IIB and IgG1‐Fc, which
binds myostatin and related ligands. It aims to disrupt the inhibitory effect on muscle …