Article
Novel THAP1 variants in Brazilian patients with idiopathic isolated dystonia.
Journal of the neurological sciences - 15 Sept 2014
da Silva-Junior Francisco Pereira, dos Santos Camila Oliveira, Silva Sonia Maria Cesar Azevedo, Barbosa Egberto Reis, Borges Vanderci, Ferraz Henrique Ballalai, Limongi João Carlos Papaterra, Rocha Maria Sheila Guimarães, de Carvalho Aguiar Patricia
Abstract excerpt
THAP1 mutations are associated with idiopathic isolated dystonia in different ethnicities, but the importance of this gene as a cause of dystonia in the Brazilian population has not been determined. The aim of this study was to investigate the prevalence of THAP1 variants in Brazilian patients with idiopathic dystonia and to describe their clinical characteristics including non-motor symptoms. One hundred and ten...
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