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 · 508 citations · Full text

Neurodegenerative Diseases, Degenerative Disease, Motor Disorder +6

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 · 274 citations

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 · 98 citations

Genetics, Disease Gene Identification, Sgce Mutations +17

Phenotypic features of myoclonus-dystonia in three kindreds

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

ε‐sarcoglycan mutations found in combination with other dystonia gene mutations

Christine Klein, Liu Liu, Dana Doheny et al. · Annals of Neurology · 2002 · 88 citations