CANVAS: a late onset ataxia due to biallelic intronic AAGGG expansions

The ataxias are a group of disorders that manifest with balance, movement, speech and visual problems. They can arise due to dysfunction of the cerebellum, the vestibular system and/or the sensory neurons. Genetic defects are a common cause of chronic ataxia, particularly common are repeat expansion...

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Detalles Bibliográficos
Autores principales: Dominik, Natalia, Galassi Deforie, Valentina, Cortese, Andrea, Houlden, Henry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2020
Materias:
Neurological Update
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7914193/
https://www.ncbi.nlm.nih.gov/pubmed/32910249
http://dx.doi.org/10.1007/s00415-020-10183-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7914193/
https://www.ncbi.nlm.nih.gov/pubmed/32910249
http://dx.doi.org/10.1007/s00415-020-10183-0

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