Douglas M. Sproule

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

Jerry R. Mendell, Samiah Al-Zaidy, Richard Shell et al. · New England Journal of Medicine · 2017 · 2.3K citations · Full text

Medicine, Genetics, Neurology +16

Observational study of spinal muscular atrophy type I and implications for clinical trials

Richard S. Finkel, Michael McDermott, Petra Kaufmann et al. · Neurology · 2014 · 526 citations · Full text

Medicine, Neurology, Geriatric Care +10

Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial

Richard S. Finkel, Claudia A. Chiriboga, Anne M. Connolly et al. · The Lancet Neurology · 2021 · 480 citations

Medicine, Genetics, Molecular Genetics +14

Prospective cohort study of spinal muscular atrophy types 2 and 3

Petra Kaufmann, Michael McDermott, Basil T. Darras et al. · Neurology · 2012 · 291 citations · Full text

Medicine, Neurology, Clinical Epidemiology +6

Health outcomes in spinal muscular atrophy type 1 following AVXS‐101 gene replacement therapy

S. Al-Zaidy, A. Simon Pickard, Kavitha Kotha et al. · Pediatric Pulmonology · 2018 · 219 citations · Full text

Medicine, Genetics, Pediatrics +13