Julie Parsons

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

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

Natural history of infantile‐onset spinal muscular atrophy

Stephen J. Kolb, Christopher S. Coffey, Jon Yankey et al. · Annals of Neurology · 2017 · 409 citations

Medicine, Neurology, Neuroscience +17

Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial

Kevin A. Strauss, Michelle A. Farrar, Francesco Muntoni et al. · Nature Medicine · 2022 · 295 citations · Full text

Medicine, Genetics, Pediatrics +13

Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial

Kevin A. Strauss, Michelle A. Farrar, Francesco Muntoni et al. · Nature Medicine · 2022 · 276 citations · Full text

Medicine, Genetics, Pediatrics +16