Victor Ionâşescu

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

X–linked spastic paraplegia (SPG1), MASA syndrome and X–linked hydrocephalus result from mutations in the L1 gene

Monique Jouet, André Rosenthal, Giles Armstrong et al. · Nature Genetics · 1994 · 420 citations

Hydrocephalus Result, Medicine, Genetics +8

Duchenne muscular dystrophy

Kay Ohlendieck, Kiichiro Matsumura, Victor Ionâşescu et al. · Neurology · 1993 · 257 citations

Muscle Function, Pathology, Cytoskeleton +20

Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy

Heather M. McLaughlin, Reiko Sakaguchi, Cuiping Liu et al. · The American Journal of Human Genetics · 2010 · 197 citations · Full text

Peripheral Neuropathy, Mendelian Disorder, Genetic Disorder +8

Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations

Kumaraswamy Sivakumar, Theodoros Kyriakides, Imke Puls et al. · Brain · 2005 · 133 citations · Full text

Neurological Disorder, Genetics, Phenotypic Spectrum +19