Kathryn Selby

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

Craig M. McDonald, Craig Campbell, Ricardo Erazo Torricelli et al. · The Lancet · 2017 · 455 citations · Full text

Medicine, Molecular Medicine, Neurology +9

Exome Sequencing and the Management of Neurometabolic Disorders

Maja Tarailo‐Graovac, Casper Shyr, Colin J.D. Ross et al. · New England Journal of Medicine · 2016 · 280 citations · Full text

Life Sciences, Bioinformatics, Genetics +12

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

Craig Campbell, Hugh J. McMillan, Jean K. Mah et al. · Muscle & Nerve · 2016 · 234 citations

Pharmacy, Pharmacokinetics, Pharmacology +14

Abnormal fatty acid metabolism is a core component of spinal muscular atrophy

Marc‐Olivier Deguise, Giovanni Baranello, Chiara Mastella et al. · Annals of Clinical and Translational Neurology · 2019 · 130 citations · Full text

Life Sciences, Neuroscience, Pathology +17

Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy

Michela Guglieri, Paula R. Clemens, Seth J. Perlman et al. · JAMA Neurology · 2022 · 130 citations · Full text

Pharmacy, Pharmacology, Pharmacotherapy +17