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

Hereditary cerebellar ataxias and hereditary spastic paraplegias are clinically and genetically heterogeneous and often overlapping neurological disorders. Mutations in SPG7 cause the autosomal recessive spastic paraplegia type 7 (SPG7), but recent studies indicate that they are also one of the most...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: 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, Brais, Bernard
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5070891/
https://ncbi.nlm.nih.gov/pubmed/26626314
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.240
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