Screening of GNAL variants in Brazilian patients with isolated dystonia reveals a novel mutation with partial loss of function

GNAL was identified as a cause of dystonia in patients from North America, Europe and Asia. In this study, we aimed to investigate the prevalence of GNAL variants in Brazilian patients with dystonia. Ninety-one patients with isolated idiopathic dystonia, negative for THAP1 and TOR1A mutations, were...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Neurol
Prif Awduron: dos Santos, Camila Oliveira, Masuho, Ikuo, da Silva-Júnior, Francisco Pereira, Barbosa, Egberto Reis, Silva, Sonia Maria Cesar Azevedo, Borges, Vanderci, Ferraz, Henrique Ballalai, Rocha, Maria Sheila Guimarães, Limongi, João Carlos Papaterra, Martemyanov, Kirill A., de Carvalho Aguiar, Patricia
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2016
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4828253/
https://ncbi.nlm.nih.gov/pubmed/26810727
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00415-016-8026-2
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