SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases-Reference-Cited by-同舟云学术

SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases

Published:2015-12-02 Issue:7 Volume:24 Page:1016-1021
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Choquet Karine, ,Tétreault Martine,Yang Sharon,La Piana Roberta,Dicaire Marie- Josée,Vanstone Megan R,Mathieu Jean,Bouchard Jean-Pierre,Rioux Marie-France,Rouleau Guy A,Boycott Kym M,Majewski Jacek^ORCID,Brais Bernard

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2015240.pdf

Reference26 articles.

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3. Ruano L, Melo C, Silva MC, Coutinho P : The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology 2014; 42: 174–183.

4. Casari G, De Fusco M, Ciarmatori S et al: Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 1998; 93: 973–983.

5. Wilkinson PA, Crosby AH, Turner C et al: A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia. Brain 2004; 127 (Pt 5): 973–980.

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