Genomic Portrait of a Sporadic Amyotrophic Lateral Sclerosis Case in a Large Spinocerebellar Ataxia Type 1 Family

Background: Repeat expansions in the spinocerebellar ataxia type 1 (SCA1) gene ATXN1 increases the risk for amyotrophic lateral sclerosis (ALS), supporting a relationship between these disorders. We recently reported the co-existence, in a large SCA1 family, of a clinically definite ALS individual b...

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Detalles Bibliográficos
Autores principales: Morello, Giovanna, Gentile, Giulia, Spataro, Rossella, Spampinato, Antonio Gianmaria, Guarnaccia, Maria, Salomone, Salvatore, La Bella, Vincenzo, Conforti, Francesca Luisa, Cavallaro, Sebastiano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7712010/
https://www.ncbi.nlm.nih.gov/pubmed/33276461
http://dx.doi.org/10.3390/jpm10040262

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