Jahannaz Dastgir

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

Severe congenital <i>RYR1</i> -associated myopathy

Diana Bharucha‐Goebel, Mariarita Santi, Līvija Medne et al. · Neurology · 2013 · 109 citations · Full text

Life Sciences, Clinical Sciences, Immunology +14

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

Gina O’Grady, Heather Best, Tamar E. Sztal et al. · The American Journal of Human Genetics · 2016 · 106 citations · Full text

Life Sciences, Genetics, Molecular Biology +13

Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin (<i>MYH7</i>) Distal Myopathy

Phillipa J. Lamont, William Wallefeld, David Hilton‐Jones et al. · Human Mutation · 2014 · 98 citations · Full text

Medicine, Genetics, Molecular Genetics +13

Position of Glycine Substitutions in the Triple Helix of<i>COL6A1</i>,<i>COL6A2</i>, and<i>COL6A3</i>is Correlated with Severity and Mode of Inheritance in Collagen VI Myopathies

Russell J. Butterfield, A. Reghan Foley, Jahannaz Dastgir et al. · Human Mutation · 2013 · 98 citations

Life Sciences, Genetics, Molecular Genetics +16