Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy-Reference-Cited by-同舟云学术

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

Published:2004-05-02 Issue:6 Volume:36 Page:602-606
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Evgrafov Oleg V,Mersiyanova Irena,Irobi Joy,Van Den Bosch Ludo,Dierick Ines,Leung Conrad L,Schagina Olga,Verpoorten Nathalie,Van Impe Katrien,Fedotov Valeriy,Dadali Elena,Auer-Grumbach Michaela,Windpassinger Christian,Wagner Klaus,Mitrovic Zoran,Hilton-Jones David,Talbot Kevin,Martin Jean-Jacques,Vasserman Natalia,Tverskaya Svetlana,Polyakov Alexander,Liem Ronald K H,Gettemans Jan,Robberecht Wim,De Jonghe Peter,Timmerman Vincent

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng1354.pdf

Reference30 articles.

1. Suter, U. & Scherer, S.S. Disease mechanisms in inherited neuropathies. Nat. Rev. Neurosci. 4, 714–726 (2003).

2. Ismailov, S.M. et al. A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21. Eur. J. Hum. Genet. 9, 646–650 (2001).

3. Zhao, C. et al. Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta. Cell 105, 587–597 (2001).

4. Verhoeven, K. et al. Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy. Am. J. Hum. Genet. 72, 722–727 (2003).

5. Mersiyanova, I.V. et al. A new variant of Charcot-Marie-Tooth disease type 2 (CMT2E) is probably the result of a mutation in the neurofilament light gene. Am. J. Hum. Genet. 67, 37–46 (2000).

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