Fellowship · Los Angeles, CA
Sponsored by UCLA David Geffen School of Medicine/UCLA Medical Center
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
Nature genetics · 2021 · 434 citations · Martina Wiedau
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.
The Lancet. Neurology · 2021 · 399 citations · Perry Shieh
Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial.
Nature medicine · 2022 · 263 citations · Perry Shieh
Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial.
Nature medicine · 2022 · 236 citations · Perry Shieh
Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE study.
Muscle & nerve · 2023 · 104 citations · Francy Shu
Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled Trial.
Neurology · 2024 · 70 citations ·
Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry.
Journal of neuromuscular diseases · 2024 · 63 citations · Perry Shieh
Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.
JAMA · 2022 · 116 citations · Perry Shieh