Kumaraswamy Sivakumar

Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V

Anthony Antonellis, Rachel E. Ellsworth, Nyamkhishig Sambuughin et al. · The American Journal of Human Genetics · 2003 · 555 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +5

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

Lev G. Goldfarb, Kyeyoon Park, Larisa Červen̆áková et al. · Nature Genetics · 1998 · 503 citations

Missense Mutations, Cardiomyopathy, Mendelian Disorder +7

Desmin Myopathy, a Skeletal Myopathy with Cardiomyopathy Caused by Mutations in the Desmin Gene

Marinos C. Dalakas, Kyeyoon Park, Cristina Semino‐Mora et al. · New England Journal of Medicine · 2000 · 449 citations · Full text

Gentamicin‐induced readthrough of stop codons in duchenne muscular dystrophy

Vinod Malik, Louise R. Rodino‐Klapac, Laurence Viollet et al. · Annals of Neurology · 2010 · 271 citations · Full text

Safety and efficacy of zilucoplan in patients with generalised myasthenia gravis (RAISE): a randomised, double-blind, placebo-controlled, phase 3 study

James F. Howard, Saskia Bresch, Angela Genge et al. · The Lancet Neurology · 2023 · 213 citations

Medicine, Surgery, Clinical Trials +1