Browsing Wolfson Institute of Preventive Medicine by Subject "GBA"
Now showing items 1-6 of 6
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Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia.
(2020-01-01)Parkinson's disease is a genetically complex disorder. Multiple genes have been shown to contribute to the risk of Parkinson's disease, and currently 90 independent risk variants have been identified by genome-wide association ... -
Genomewide association study of Parkinson's disease clinical biomarkers in 12 longitudinal patients' cohorts.
(2019-12)BACKGROUND: Several reports have identified different patterns of Parkinson's disease progression in individuals carrying missense variants in GBA or LRRK2 genes. The overall contribution of genetic factors to the severity ... -
Parkinson's disease age at onset genome‐wide association study: Defining heritability, genetic loci, and α‐synuclein mechanisms
(Wiley, 2019-04-07)Background: Increasing evidence supports an extensive and complex genetic contribution to PD. Previous genome‐wide association studies (GWAS) have shed light on the genetic basis of risk for this disease. However, the ... -
Parkinson's disease age at onset genome‐wide association study: Defining heritability, genetic loci, and α‐synuclein mechanisms
(Wiley, 2019-04-07)Background: Increasing evidence supports an extensive and complex genetic contribution to PD. Previous genome‐wide association studies (GWAS) have shed light on the genetic basis of risk for this disease. However, the ... -
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 ... -
The prodromes of Parkinson's disease.
(Wiley, 2018-11-17)Whilst the diagnosis of Parkinson’s disease (PD) relies on the motor triad of bradyki-nesia, rigidity and tremor, the underlying pathological process starts many years be-fore these signs are overt. In this prodromal phase ...