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Human ataxias: a genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling

A persistent mystery about the ataxias has been why mutations in genes – many of which are expressed widely in the brain – primarily cause ataxia, and not, for example, epilepsy or dementia. Why should a poly-glutamine stretch in the TATA-binding protein (that is important in all cells) particularly...

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Detalhes bibliográficos
Publicado no:Trends Neurosci
Main Authors: Schorge, Stephanie, van de Leemput, Joyce, Singleton, Andrew, Houlden, Henry, Hardy, John
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4684264/
https://ncbi.nlm.nih.gov/pubmed/20226542
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.tins.2010.02.005
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