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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Vydáno v:J Pers Med
Hlavní autoři: Morello, Giovanna, Gentile, Giulia, Spataro, Rossella, Spampinato, Antonio Gianmaria, Guarnaccia, Maria, Salomone, Salvatore, La Bella, Vincenzo, Conforti, Francesca Luisa, Cavallaro, Sebastiano
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI 2020
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7712010/
https://ncbi.nlm.nih.gov/pubmed/33276461
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/jpm10040262
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