Perry B. Shieh

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy

Eugenio Mercuri, Basil T. Darras, Claudia A. Chiriboga et al. · New England Journal of Medicine · 2018 · 1.4K citations

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

Hane Lee, Joshua L. Deignan, Naghmeh Dorrani et al. · JAMA · 2014 · 969 citations · Full text

Identification of a Signaling Pathway Involved in Calcium Regulation of BDNF Expression

Perry B. Shieh, Shu-Ching Hu, Kathryn Bobb et al. · Neuron · 1998 · 693 citations · Full text

Bdnf Expression, Signal Transduction, Signaling Pathway +12

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

John Day, Richard S. Finkel, Claudia A. Chiriboga et al. · The Lancet Neurology · 2021 · 449 citations

Rare Diseases, Spinal Cord Injury, Medicine +5

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 · 446 citations · Full text

Rare Diseases, Urology, Clinical Trials +5