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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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2017
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5414954/
https://ncbi.nlm.nih.gov/pubmed/28467418
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0173565
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