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First Clinicogenetic Description of Parkinson's Disease Related to GBA Mutation S107L

BACKGROUND: Mutations in the glucocerebrosidase gene (GBA) are a common genetic risk factor for Parkinson's disease (PD). Mutations in the N‐terminus part of GBA are less commonly found in association with PD than those in the C‐terminus. Phenotypic characterization of GBA‐related PD has been c...

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Detalhes bibliográficos
Publicado no:Mov Disord Clin Pract
Main Authors: Hertz, Ellen, Thörnqvist, Måns, Holmberg, Björn, Machaczka, Maciej, Sidransky, Ellen, Svenningsson, Per
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons, Inc. 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6417758/
https://ncbi.nlm.nih.gov/pubmed/30949558
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mdc3.12743
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