Monique M. Ryan

Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study

Darryl C. De Vivo, Enrico Bertini, Kathryn J. Swoboda et al. · Neuromuscular Disorders · 2019 · 626 citations · Full text

Medicine, Neurology, Pediatrics +10

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

Craig M. McDonald, Erik Henricson, Richard T. Abresch et al. · The Lancet · 2017 · 475 citations

Medicine, Endocrinology, Neuromuscular Disorders +7

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

Ataluren treatment of patients with nonsense mutation dystrophinopathy

K. Bushby, Richard S. Finkel, Brenda Wong et al. · Muscle & Nerve · 2014 · 426 citations · Full text

Medicine, Genetics, Molecular Genetics +17

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

Zornitza Stark, Tiong Yang Tan, Belinda Chong et al. · Genetics in Medicine · 2016 · 411 citations · Full text

Life Sciences, Genetics, Pediatrics +16