Concepedia

A novel Lys141Thr mutation in small heat shock protein 22 (HSPB8) gene in Charcot–Marie–Tooth disease type 2L

Khriezhanuo Nakhro, Jin-Mo Park, Ye Jin Kim, Bo Ram Yoon, Jeong Hyun Yoo, Heasoo Koo, Byung‐Ok Choi, Ki Wha Chung

Neuromuscular Disorders · 2013 · 46 citations · 25 references

DOI

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References

25

A missense mutation in the αB-crystallin chaperone gene causes a desmin-related myopathy

Patrick Vicart, Anne Caron, Pascale Guicheney et al. · Nature Genetics · 1998 · 1.1K citations

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THE CLINICAL FEATURES OF HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPES I AND II

A E Harding, P. K. Thomas · Brain · 1980 · 829 citations

, , +17

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

, , +14

HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1–induced Charcot-Marie-Tooth disease

Constantin d’Ydewalle, Jyothsna Krishnan, Driss M Chiheb et al. · Nature Medicine · 2011 · 461 citations · Full text

, , +4

Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA

M. Litt · Human Molecular Genetics · 1998 · 447 citations

, , +15