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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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Publicado en:Mov Disord Clin Pract
Autores principales: Hertz, Ellen, Thörnqvist, Måns, Holmberg, Björn, Machaczka, Maciej, Sidransky, Ellen, Svenningsson, Per
Formato: Artigo
Lenguaje:Inglês
Publicado: John Wiley & Sons, Inc. 2019
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Acceso en línea: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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