Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management-Reference-Cited by-同舟云学术

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management

Published:2009-05-14 Issue:1 Volume:11 Page:1-12
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Anheim M.,Fleury M.,Monga B.,Laugel V.,Chaigne D.,Rodier G.,Ginglinger E.,Boulay C.,Courtois S.,Drouot N.,Fritsch M.,Delaunoy J. P.,Stoppa-Lyonnet D.,Tranchant C.,Koenig M.

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-009-0196-y.pdf

Reference63 articles.

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3. Durr A, Cossee M, Agid Y, Campuzano V, Mignard C, Penet C et al (1996) Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med 335(16):1169–1175

4. Campuzano V, Montermini L, Molto MD, Pianese L, Cossee M, Cavalcanti F et al (1996) Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271(5254):1423–1427. doi: 10.1126/science.271.5254.1423

5. Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L et al (1995) A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 268(5218):1749–1753. doi: 10.1126/science.7792600

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