Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort

OBJECTIVE: We evaluated the prevalence of pathogenic repeat expansions in replication factor C subunit 1 (RFC1) and disabled adaptor protein 1 (DAB1) in an undiagnosed ataxia cohort from North America. METHODS: A cohort of 596 predominantly adult-onset patients with undiagnosed familial or sporadic...

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Detalles Bibliográficos
Autores principales: Aboud Syriani, Dona, Wong, Darice, Andani, Sameer, De Gusmao, Claudio M., Mao, Yuanming, Sanyoura, May, Glotzer, Giacomo, Lockhart, Paul J., Hassin-Baer, Sharon, Khurana, Vikram, Gomez, Christopher M., Perlman, Susan, Das, Soma, Fogel, Brent L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7274910/
https://www.ncbi.nlm.nih.gov/pubmed/32582864
http://dx.doi.org/10.1212/NXG.0000000000000440

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