Alanyl-tRNA synthetase 1 (AARS1) gene mutation in a family with intermediate Charcot-Marie-Tooth neuropathy

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 · 566 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy

Albena Jordanova, Joy Irobi, Florian P. Thomas et al. · Nature Genetics · 2006 · 376 citations · Full text

Medicine, Neurology, Neuroscience +16

Reliability of the CMT neuropathy score (second version) in Charcot‐Marie‐Tooth disease

Sinéad M. Murphy, David N. Herrmann, Michael McDermott et al. · Journal of the Peripheral Nervous System · 2011 · 355 citations · Full text

Medicine, Neurology, Neuromusculoskeletal Assessment +14

Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease

Michael N. Weedon, Robert Hastings, Richard Caswell et al. · The American Journal of Human Genetics · 2011 · 288 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases

Nazha Birouk · Brain · 1997 · 257 citations

Medicine, Neurology, Electrophysiology +16