Jong‐Hee Chae

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

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Vincenzo Salpietro, Christine L. Dixon, Hui Guo et al. · Nature Communications · 2019 · 236 citations · Full text

Pediatric moyamoya disease: An analysis of 410 consecutive cases

Seung‐Ki Kim, Byung‐Kyu Cho, Ji Hoon Phi et al. · Annals of Neurology · 2010 · 212 citations

Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms

Hyung-Lok Chung, Michael F. Wangler, Paul C. Marcogliese et al. · Neuron · 2020 · 153 citations · Full text

Reductive Stress, Genome Instability, Different Mechanisms +8

Defining the phenotypic spectrum of <i>SLC6A1</i> mutations

Katrine M. Johannesen, Elena Gardella, Tarja Linnankivi et al. · Epilepsia · 2018 · 146 citations · Full text