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Article

A "dose" effect of mutations in the GBA gene on Parkinson's disease phenotype.

Parkinsonism & related disorders - 1 Mar 2017

Thaler Avner, Gurevich Tanya, Bar Shira Anat, Gana Weisz Mali, Ash Elissa, Shiner Tamara, Orr-Urtreger Avi, Giladi Nir, Mirelman Anat

Abstract excerpt

OBJECTIVE: Mutations in the GBA gene are associated with Parkinson's disease (PD). A definite description of the clinical characteristics of PD patients who are compound heterozygotes or homozygotes for mutations in the GBA gene (GD-PD) requires further elucidation. METHODS: We assessed motor, cognitive, olfactory and autonomic functions as well as demographic data and medical history in a cohort of Ashkenazi...

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Identifiers

PMID: 28012950
DOI: 10.1016/j.parkreldis.2016.12.014

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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