Yoram Nevo

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

Ann Saada, Avraham Shaag, Hanna Mandel et al. · Nature Genetics · 2001 · 621 citations

Life Sciences, Genetics, Molecular Biology +14

Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study

Craig M. McDonald, Erik Henricson, Richard T. Abresch et al. · The Lancet · 2017 · 475 citations

Medicine, Endocrinology, Neuromuscular Disorders +7

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

Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb–MyoD pathways in muscle regeneration

Marina Bakay, Zuyi Wang, Gisela Melcon et al. · Brain · 2006 · 328 citations · Full text

Life Sciences, Genetics, Molecular Biology +16

Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

Gianina Ravenscroft, Satoko Miyatake, Vilma‐Lotta Lehtokari et al. · The American Journal of Human Genetics · 2013 · 224 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8