Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions

Dystonia is characterized by involuntary muscle contractions. Its many forms are genetically, phenotypically and etiologically diverse and it is unknown whether their pathogenesis converges on shared pathways. Mutations in THAP1 [THAP (Thanatos-associated protein) domain containing, apoptosis associ...

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Detalhes bibliográficos
Publicado no:PLoS Genet
Main Authors: Zakirova, Zuchra, Fanutza, Tomas, Bonet, Justine, Readhead, Ben, Zhang, Weijia, Yi, Zhengzi, Beauvais, Genevieve, Zwaka, Thomas P., Ozelius, Laurie J., Blitzer, Robert D., Gonzalez-Alegre, Pedro, Ehrlich, Michelle E.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2018
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5798844/
https://ncbi.nlm.nih.gov/pubmed/29364887
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1007169
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