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Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases.
The autoimmune regulator (AIRE) gene is crucial for establishing central immunological tolerance and preventing autoimmunity. Mutations in AIRE cause a rare autosomal-recessive disease, autoimmuneExpand
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Lrrk2 G2385R is an ancestral risk factor for Parkinson's disease in Asia.
The goal of genetic association studies is to identify common (>5%) risk factors in complex disease traits. Herein we describe the first replicable 'functional' risk allele for Parkinson's disease.Expand
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α-Synuclein and Parkinson disease susceptibility
Background: Mutations in the α-synuclein (SNCA) gene have been shown to be responsible for a rare familial form of Parkinson disease (PD). Furthermore, polymorphic variants in multiple regions of theExpand
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The influence of cerebrovascular risk factors on incident dementia in patients with Parkinson's disease
Objective –  To examine if risk factors for cerebrovascular disease would increase the risk for dementia in patients with Parkinson's disease (PD).
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Glitazone use associated with reduced risk of Parkinson's disease
Whether antidiabetic glitazone drugs protect against Parkinson's disease remains controversial. Although a single clinical trial showed no evidence of disease modulation, retrospective studiesExpand
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Autonomic symptoms and dopaminergic treatment in de novo Parkinson's disease
Autonomic symptoms are present in early stages of Parkinson's disease (PD), but evidence on how they are influenced by dopaminergic treatment remains unclear. The aim of this study was to investigateExpand
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Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease
Objective: Leucine-rich repeat kinase 2 (LRRK2) mutations are the most common cause of Parkinson disease (PD). Several dominantly inherited pathogenic substitutions have been identified in differentExpand
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alpha-Synuclein and Parkinson disease susceptibility.
BACKGROUND Mutations in the alpha-synuclein (SNCA) gene have been shown to be responsible for a rare familial form of Parkinson disease (PD). Furthermore, polymorphic variants in multiple regions ofExpand
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Dopamine beta-hydroxylase -1021C>T association and Parkinson's disease.
A single nucleotide polymorphism in the promoter region of the dopamine beta-hydroxylase gene (DBH -1021C>T; rs1611115) is reported to regulate plasma enzyme activity levels. This variant has alsoExpand
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In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins
Spinocerebellar ataxia, autosomal recessive 16 (SCAR16) is caused by biallelic mutations in the STIP1 homology and U-box containing protein 1 (STUB1) gene encoding the ubiquitin E3 ligase and dimericExpand
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