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List of works by Patricia de Carvalho Aguiar

Examination of the SGCE gene in Tourette syndrome patients with obsessive-compulsive disorder.

scientific article published in October 2004

Genetic and environmental findings in early-onset Parkinson's disease Brazilian patients

scientific article published on 01 July 2008

Genetic heterogeneity in ten families with myoclonus-dystonia.

scientific article

Heterozygous exon 3 deletion in the Parkin gene in a patient with clinical and radiological MSA-C phenotype

scientific article published on 22 December 2010

Inherited myoclonus-dystonia and epilepsy: further evidence of an association?

scientific article published on 01 December 2004

Molecular imaging in hereditary forms of parkinsonism.

scientific article published on April 2007

Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism

scientific article

PINK1 mutations in a Brazilian cohort of early-onset Parkinson's disease patients

scientific article published in August 2009

PINK1 polymorphism IVS1-7 A-->G, exposure to environmental risk factors and anticipation of disease onset in Brazilian patients with early-onset Parkinson's Disease.

scientific article published on 26 November 2009

Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with ɛ-sarcoglycan mutations

scientific article published on 01 March 2008

Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion

scientific article published on 01 December 2010

Screening of GNAL variants in Brazilian patients with isolated dystonia reveals a novel mutation with partial loss of function

scientific article published on 25 January 2016

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

scientific article

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