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Gain-of-function variant in GLUD2 glutamate dehydrogenase modifies Parkinson's disease onset
(2010)
Parkinson's disease (PD), a common neurodegenerative disorder characterized by progressive loss of dopaminergic neurons and their terminations in the basal ganglia, is thought to be related to genetic and environmental ...
Testing association between LRRK2 and Parkinson's disease and investigating linkage disequilibrium
(2006)
Background: We and others recently identified the gene underlying PARK8 linked Parkinson's disease (PD). This gene, LRRK2, contains mutations that cause an autosomal dominant PD, including a mutation, G2019S, which is the ...
Angiotensin-converting enzyme tag single nucleotide polymorphisms in patients with intracerebral hemorrhage
(2011)
Objectives Studies investigating the association between angiotensin-converting enzyme (ACE) insertion/deletion (I/D) polymorphism and the risk of intracerebral hemorrhage (ICH) have provided conflicting results. Moreover, ...
A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants
(2012)
Background Two recent studies identified a mutation (p.Asp620Asn) in the vacuolar protein sorting 35 gene as a cause for an autosomal dominant form of Parkinson disease. Although additional missense variants were described, ...
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease
(2014)
We conducted a meta-analysis of Parkinson's disease genome-wide association studies using a common set of 7,893,274 variants across 13,708 cases and 95,282 controls. Twenty-six loci were identified as having genome-wide ...