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...

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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Neurol
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2016
Gaiak:
Article
Sarrera elektronikoa: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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