Patrícia de Carvalho Aguiar

Mutations in the Na+/K+-ATPase α3 Gene ATP1A3 Are Associated with Rapid-Onset Dystonia Parkinsonism

Patrícia de Carvalho Aguiar, Kathleen J. Sweadner, John T. Penniston et al. · Neuron · 2004 · 511 citations · Full text

Medicine, Genetics, Neuroscience +12

The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene

Alison Brashear, William B. Dobyns, Patrícia de Carvalho Aguiar et al. · Brain · 2007 · 277 citations

Medicine, Genetics, Neurology +17

Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in <i>SGCE</i> mutation carriers

Christopher W. Hess, Deborah Raymond, Patrícia de Carvalho Aguiar et al. · Neurology · 2007 · 99 citations

Life Sciences, Genetics, Molecular Genetics +14

Phenotypic features of myoclonus-dystonia in three kindreds

Dana Doheny, Mitchell F. Brin, Chris Morrison et al. · Neurology · 2002 · 94 citations

Medicine, Genetics, Neurology +16

Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson’s disease study

Ana Westenberger, Volha Skrahina, Tatiana Usnich et al. · Brain · 2024 · 89 citations · Full text

Life Sciences, Genetics, Neurology +15