Differential effects of severe vs mild GBA mutations on Parkinson disease

OBJECTIVE: To better define the genotype-phenotype correlations between the type of GBA (glucosidase, beta, acid) mutation, severe or mild, and the risk and age at onset (AAO), and potential mechanism of Parkinson disease (PD). METHODS: We analyzed 1,000 patients of Ashkenazi-Jewish descent with PD...

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Vydáno v:Neurology
Hlavní autoři: Gan-Or, Ziv, Amshalom, Idan, Kilarski, Laura L., Bar-Shira, Anat, Gana-Weisz, Mali, Mirelman, Anat, Marder, Karen, Bressman, Susan, Giladi, Nir, Orr-Urtreger, Avi
Médium: Artigo
Jazyk:Inglês
Vydáno: Lippincott Williams & Wilkins 2015
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4351661/
https://ncbi.nlm.nih.gov/pubmed/25653295
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000001315
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