title: Association of LRRK2 and GBA mutations in a Brazilian family with Parkinson's disease.
authors.affiliation: Movement Disorders Section, Neurology Service, State University of Rio de Janeiro, Hospital Universitário Pedro Ernesto, Av. 28 de Setembro,77, Rio de Janeiro, Brazil. Electronic address: marianaspitz@gmail.com.
authors.forename: Mariana
authors.initials: M
authors.lastname: Spitz
authors.affiliation: Movement Disorders Section, Neurology Service, State University of Rio de Janeiro, Hospital Universitário Pedro Ernesto, Av. 28 de Setembro,77, Rio de Janeiro, Brazil.
authors.forename: João Santos
authors.initials: JS
authors.lastname: Pereira
authors.affiliation: Estácio de Sá University, Rua Riachuelo, 27, Rio de Janeiro, Brazil.
authors.forename: Denise Hack
authors.initials: DH
authors.lastname: Nicareta
authors.affiliation: Genetics Department, Institute of Biology Roberto Alcantara Gomes, State University of Rio de Janeiro, Av. 28 de Setembro, 87, Rio de Janeiro, Brazil.
authors.forename: Gabriella de Medeiros
authors.initials: Gde M
authors.lastname: Abreu
authors.affiliation: Cytogenetics Laboratory, Rio de Janeiro State University, Hospital Universitário Pedro Ernesto, Av. 28 de Setembro, 77, Rio de Janeiro, Brazil; Medical Genetics Center, Fernandes Figueira Institute, Fiocruz, Av. Rui Barbosa, 716, Rio de Janeiro, Brazil.
authors.forename: Elenice Ferreira
authors.initials: EF
authors.lastname: Bastos
authors.affiliation: Cytogenetics Laboratory, Rio de Janeiro State University, Hospital Universitário Pedro Ernesto, Av. 28 de Setembro, 77, Rio de Janeiro, Brazil.
authors.forename: Taís Leite
authors.initials: TL
authors.lastname: Seixas
authors.affiliation: Genetics Department, Institute of Biology Roberto Alcantara Gomes, State University of Rio de Janeiro, Av. 28 de Setembro, 87, Rio de Janeiro, Brazil.
authors.forename: Márcia Mattos Gonçalves
authors.initials: MM
authors.lastname: Pimentel
mesh_terms: D001938:Brazil; D005260:Female; D056726:Genetic Association Studies; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010300:Parkinson Disease / Q000175:diagnosis* / Q000235:genetics*; D010375:Pedigree; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
chemical_list: C495280:LRRK2 protein, human; D000071158:Leucine-Rich Repeat Serine-Threonine Protein Kinase-2; D017346:Protein Serine-Threonine Kinases; D005962:Glucosylceramidase
keywords: G2019S; GBA; Genetics; L444P; LRRK2; Parkinson's disease