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Spinocerebellar ataxias (SCAs) caused by common mutations
The term SCA refers to a phenotypically and genetically heterogeneous group of autosomal dominant spinocerebellar ataxias. Phenotypically they present as gait ataxia frequently in combination with dysarthria and oculomotor problems. Additional signs and symptoms are common and can include various py...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Springer Berlin Heidelberg
2021
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8426233/ https://www.ncbi.nlm.nih.gov/pubmed/34401960 http://dx.doi.org/10.1007/s10048-021-00662-5 |