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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...
Autores principales: | Dominik, Natalia, Galassi Deforie, Valentina, Cortese, Andrea, Houlden, Henry |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2020
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Materias: | |
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 |
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