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- W2048192706 abstract "The last 2 decades have seen remarkable advances in our understanding of genetic risk factors underlying the pathogenesis of Parkinson disease (PD). One of the most surprising discoveries was that mutations in GBA (glucosidase, beta, acid), coding for the lysosomal enzyme glucocerebrosidase, have a substantial role in PD. While homozygous GBA mutations were known for some time as the cause of Gaucher disease, subsequent clinical, neuropathologic, and genetic studies established that heterozygous and occasional homozygous mutations in this gene are also common risk factors for PD, particularly in the Ashkenazi-Jewish population.1–7" @default.
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- W2048192706 date "2015-02-04" @default.
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- W2048192706 title "GBA mutations and Parkinson disease: When genotype meets phenotype" @default.
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- W2048192706 doi "https://doi.org/10.1212/wnl.0000000000001321" @default.
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