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Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease.
(Elsevier, 2017-12-20)
SNCA missense mutations are a rare cause of autosomal dominant Parkinson's disease (PD). To date, 6 missense mutations in SNCA have been nominated as causal. Here, we assess the frequency of these 6 mutations in public ...
Management of Possible Multiple Sclerosis.
(2023-06-08)
Potential Protective Link Between Type I Diabetes and Parkinson's Disease Risk and Progression
(Wiley, 2023-05-06)
BACKGROUND: Epidemiological studies suggested an association between Parkinson's disease (PD) and type 2 diabetes, but less is known about type 1 diabetes (T1D) and PD. OBJECTIVE: This study sought to explore the association ...
Phenotypic effect of GBA1 variants in individuals with and without Parkinson's disease: The RAPSODI study
(Elsevier, 2023-11-03)
BACKGROUND: Variants in the GBA1 gene cause the lysosomal storage disorder Gaucher disease (GD). They are also risk factors for Parkinson's disease (PD), and modify the expression of the PD phenotype. The penetrance of ...
Multi-ancestry genome-wide association meta-analysis of Parkinson's disease.
(2024-01)
Although over 90 independent risk variants have been identified for Parkinson's disease using genome-wide association studies, most studies have been performed in just one population at a time. Here we performed a large-scale ...