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Systematic review of autosomal recessive ataxias and proposal for a classification

BACKGROUND: The classification of autosomal recessive ataxias represents a significant challenge because of high genetic heterogeneity and complex phenotypes. We conducted a comprehensive systematic review of the literature to examine all recessive ataxias in order to propose a new classification an...

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Detalles Bibliográficos
Autores principales: Beaudin, Marie, Klein, Christopher J., Rouleau, Guy A., Dupré, Nicolas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5324265/
https://www.ncbi.nlm.nih.gov/pubmed/28250961
http://dx.doi.org/10.1186/s40673-017-0061-y