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Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study
Summary Background Mutations in LRRK2, the gene that encodes leucine-rich repeat kinase 2, are a cause of Parkinson's disease (PD). The International LRRK2 Consortium was established to answer threeExpand
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DJ-1 and alpha-synuclein in human cerebrospinal fluid as biomarkers of Parkinson's disease.
Biomarkers are urgently needed for the diagnosis and monitoring of disease progression in Parkinson's disease. Both DJ-1 and alpha-synuclein, two proteins critically involved in Parkinson's diseaseExpand
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Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson’s disease
Parkinson's disease is a common disorder that leads to motor and cognitive disability. We performed a genome-wide association study of 2,000 individuals with Parkinson's disease (cases) and 1,986Expand
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Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.
BACKGROUND Recent studies indicate an increased frequency of mutations in the gene encoding glucocerebrosidase (GBA), a deficiency of which causes Gaucher's disease, among patients with Parkinson'sExpand
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Comprehensive Research Synopsis and Systematic Meta-Analyses in Parkinson's Disease Genetics: The PDGene Database
More than 800 published genetic association studies have implicated dozens of potential risk loci in Parkinson's disease (PD). To facilitate the interpretation of these findings, we have created aExpand
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A quantitative-trait analysis of human plasma-dopamine beta-hydroxylase activity: evidence for a major functional polymorphism at the DBH locus.
Dopamine-beta-hydroxylase (D beta H) catalyzes the conversion of dopamine to norepinephrine and is released from sympathetic neurons into the circulation. Plasma-D beta H activity varies widelyExpand
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Parkinson's disease and Parkinson's disease medications have distinct signatures of the gut microbiome
There is mounting evidence for a connection between the gut and Parkinson's disease (PD). Dysbiosis of gut microbiota could explain several features of PD.
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Detection of biomarkers with a multiplex quantitative proteomic platform in cerebrospinal fluid of patients with neurodegenerative disorders.
Biomarkers are needed to assist in the diagnosis and medical management of various neurodegenerative disorders, including Alzheimer's disease (AD), Parkinson's disease (PD), and dementia with LewyExpand
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Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders.
BACKGROUND Mutations in the glucocerebrosidase (GBA) gene have been reported to modify risk for Parkinson disease (PD) and dementia with Lewy bodies (DLB). However, these findings have not beenExpand
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Human genetics of plasma dopamine β-hydroxylase activity: applications to research in psychiatry and neurology
RationaleNorepinephrine (NE) is a key neurotransmitter in the central and peripheral nervous systems. Dopamine β-hydroxylase (DβH) catalyzes the synthesis of NE from dopamine (DA) and occurs in theExpand
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