A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype

Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy

Oleg V. Evgrafov, Irina Mersiyanova, Joy Irobi et al. · Nature Genetics · 2004 · 584 citations · Full text

Medicine, Neurology, Neuroscience +14

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

Peripheral Neuropathy

Thomas Chelimsky, Bashar Katirji · Neurology · 1994 · 434 citations

Medicine, Neurology, Neuromuscular Disorders +1

Mutations in the <i>HSP27</i> ( <i>HSPB1</i> ) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2

Henry Houlden, Matilde Laurá, Fabienne Wavrant‐De Vrièze et al. · Neurology · 2008 · 181 citations

Life Sciences, Genetics, Neurology +16

Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L

Beisha Tang, Guohua Zhao, Wei Luo et al. · Human Genetics · 2004 · 176 citations

Life Sciences, Genetics, Molecular Genetics +9