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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Eur J Hum Genet
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2016
Schlagworte:
Article
Online Zugang: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
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge