Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia-Reference-Cited by-同舟云学术

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Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia

Published:2006-12-10 Issue:1 Volume:39 Page:80-85
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Gros-Louis François,Dupré Nicolas,Dion Patrick,Fox Michael A,Laurent Sandra,Verreault Steve,Sanes Joshua R,Bouchard Jean-Pierre,Rouleau Guy A

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng1927.pdf

Reference22 articles.

1. Schols, L., Bauer, P., Schmidt, T., Schulte, T. & Riess, O. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol. 3, 291–304 (2004).

2. Campuzano, V. et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271, 1423–1427 (1996).

3. Ouahchi, K. et al. Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. Nat. Genet. 9, 141–145 (1995).

4. Savitsky, K. et al. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 268, 1749–1753 (1995).

5. Engert, J.C. et al. ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat. Genet. 24, 120–125 (2000).

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