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...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:J Neurol
Κύριοι συγγραφείς: 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
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: 2016
Θέματα:
Article
Διαθέσιμο Online: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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