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Glucocerebrosidase Deficiency in Substantia Nigra of Parkinson Disease Brains

OBJECTIVE: Mutations in the glucocerebrosidase gene (GBA) represent a significant risk factor for developing Parkinson disease (PD). We investigated the enzymatic activity of glucocerebrosidase (GCase) in PD brains carrying heterozygote GBA mutations (PD+GBA) and sporadic PD brains. METHODS: GCase a...

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Autors principals: Gegg, Matthew E, Burke, Derek, Heales, Simon J R, Cooper, J Mark, Hardy, John, Wood, Nicholas W, Schapira, Anthony H V
Format: Artigo
Idioma:Inglês
Publicat: Wiley Subscription Services, Inc., A Wiley Company 2012
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3638323/
https://ncbi.nlm.nih.gov/pubmed/23034917
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.23614
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