The GBA p.Trp378Gly mutation is a probable French-Canadian founder mutation causing Gaucher disease and synucleinopathies.

Ruskey, J A; Zhou, S; Santiago, R; Franche, L-A; Alam, A; Roncière, L; Spiegelman, D; Fon, E A; Trempe, J-F; Kalia, L V; Postuma, R B; Dupre, N; Rivard, G-E; Assouline, S; Amato, D; Gan-Or, Z

Ruskey, J A; Zhou, S; Santiago, R; Franche, L-A; Alam, A; Roncière, L; Spiegelman, D; Fon, E A; Trempe, J-F; Kalia, L V; Postuma, R B; Dupre, N; Rivard, G-E; Assouline, S; Amato, D; Gan-Or, Z.

Afiliação

Ruskey JA; Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada.
Zhou S; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada.
Santiago R; Department of Epidemiology, Biostatistics and Occupational Health, McGill University, Montréal, Quebec, Canada.
Franche LA; Department of Hematology, Jewish General Hospital, McGill University, Montréal, Quebec, Canada.
Alam A; Axe neurosciences du CHU de Québec, Université Laval, Québec, Canada.
Roncière L; Faculty of Medicine, Department of Medicine, Laval University, Québec, Canada.
Spiegelman D; Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada.
Fon EA; Faculty of Medicine, McGill University, Montréal, Quebec, Canada.
Trempe JF; Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada.
Kalia LV; Department of Neurology and Neurosurgery, McGill University, Montréal, Quebec, Canada.
Postuma RB; McGill Parkinson Program and Neurodegenerative Diseases Group, Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada.
Dupre N; Department of Pharmacology & Therapeutics, McGill University, Montréal, Quebec, Canada.
Rivard GE; Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada.
Assouline S; Department of Neurology, McGill University, Montreal General Hospital, Montreal, Québec, Canada.
Amato D; Centre d'Études Avancées en Médecine du Sommeil, Hôpital du Sacré-CÅur de Montréal, Montréal, Québec, Canada.
Gan-Or Z; Axe neurosciences du CHU de Québec, Université Laval, Québec, Canada.

Clin Genet ; 94(3-4): 339-345, 2018 10.

Article em En | MEDLINE | ID: mdl-29920646

Assuntos

Efeito Fundador; Doença de Gaucher/genética; Glucosilceramidase/genética; Glicina/genética; Mutação; Sinucleínas/genética; Triptofano/genética; Adolescente; Adulto; Idoso; Pré-Escolar; Feminino; Haplótipos; Heterozigoto; Humanos; Lactente; Masculino; Pessoa de Meia-Idade; Polimorfismo de Nucleotídeo Único; Análise de Componente Principal; Quebeque; Adulto Jovem

Palavras-chave

GBA; Gaucher disease; Parkinson disease; REM sleep behavior disorder

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Triptofano / Efeito Fundador / Sinucleínas / Doença de Gaucher / Glucosilceramidase / Glicina / Mutação Idioma: En Ano de publicação: 2018 Tipo de documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google