Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P2 phosphatase FIG4-Reference-Cited by-同舟云学术

Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P2 phosphatase FIG4

Published:2011-06-23 Issue:7 Volume:134 Page:1959-1971
ISSN:1460-2156
Container-title:Brain
language:en
Short-container-title:

Author:

Nicholson Garth,Lenk Guy M.,Reddel Stephen W.,Grant Adrienne E.,Towne Charles F.,Ferguson Cole J.,Simpson Ericka,Scheuerle Angela,Yasick Michelle,Hoffman Stuart,Blouin Randall,Brandt Carla,Coppola Giovanni,Biesecker Leslie G.,Batish Sat D.,Meisler Miriam H.

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

Link

http://academic.oup.com/brain/article-pdf/134/7/1959/17346681/awr148.pdf

Reference21 articles.

1. Charcot-Marie-Tooth disease: a clinico-genetic confrontation;Barisic;Ann Hum Genet,2008

2. The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine;Biesecker;Genome Res,2009

3. Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS;Chow;Am J Hum Genet,2009

4. Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J;Chow;Nature,2007

5. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum;Davis;Nat Genet,2011

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