TRPV4 mutations in children with congenital distal spinal muscular atrophy-Reference-Cited by-同舟云学术

TRPV4 mutations in children with congenital distal spinal muscular atrophy

Published:2012-04-25 Issue:3 Volume:13 Page:195-203
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Fiorillo Chiara,Moro Francesca,Brisca Giacomo,Astrea Guja,Nesti Claudia,Bálint Zoltán,Olschewski Andrea,Meschini Maria Chiara,Guelly Christian,Auer-Grumbach Michaela,Battini Roberta,Pedemonte Marina,Romano Alessandro,Menchise Valeria,Biancheri Roberta,Santorelli Filippo M.,Bruno Claudio

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-012-0328-7.pdf

Reference26 articles.

1. Wee CD, Kong L, Sumner CJ (2010) The genetics of spinal muscular atrophies. Curr Opin Neurol 23:450–458

2. Auer-Grumbach M, Olschewski A, Papic L et al (2010) Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. Nat Genet 42:160–164

3. Landouré G, Zdebik AA, Martinez TL et al (2010) Mutations in TRPV4 cause Charcot–Marie–Tooth disease type 2C. Nat Genet 42:170–174

4. Deng HX, Klein CJ, Yan J et al (2010) Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. Nat Genet 42:165–169

5. Zimoń M, Baets J, Auer-Grumbach M et al (2010) Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies. Brain 133:1798–1809

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