A KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking

The autosomal dominant spinocerebellar ataxias (SCAs) are a diverse group of neurological disorders anchored by the phenotypes of motor incoordination and cerebellar atrophy. Disease heterogeneity is appreciated through varying comorbidities: dysarthria, dysphagia, oculomotor and/or retinal abnormal...

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Detalles Bibliográficos
Autores principales: Khare, Swati, Nick, Jerelyn A., Zhang, Yalan, Galeano, Kira, Butler, Brittany, Khoshbouei, Habibeh, Rayaprolu, Sruti, Hathorn, Tyisha, Ranum, Laura P. W., Smithson, Lisa, Golde, Todd E., Paucar, Martin, Morse, Richard, Raff, Michael, Simon, Julie, Nordenskjöld, Magnus, Wirdefeldt, Karin, Rincon-Limas, Diego E., Lewis, Jada, Kaczmarek, Leonard K., Fernandez-Funez, Pedro, Nick, Harry S., Waters, Michael F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5414954/
https://www.ncbi.nlm.nih.gov/pubmed/28467418
http://dx.doi.org/10.1371/journal.pone.0173565

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5414954/
https://www.ncbi.nlm.nih.gov/pubmed/28467418
http://dx.doi.org/10.1371/journal.pone.0173565

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