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Large-scale replication and heterogeneity in Parkinson disease genetic loci
(2012)
Objective: Eleven genetic loci have reached genome-wide significance in a recent meta-analysis of genome-wide association studies in Parkinson disease (PD) based on populations of Caucasian descent. The extent to which ...
Genetic basis of Parkinson disease
(2010)
Over the past few years, considerable progress has been made in understanding the molecular mechanisms of Parkinson disease (PD). Mutations in certain genes are found to cause monogenic forms of the disorder, with autosomal ...
Mutated alpha-synuclein gene in two Greek kindreds with familial PD: Incomplete penetrance?
(1999)
The G209A mutation in the alpha-synuclein gene has been associated with autosomal dominant PD (ADPD) in a family from Contursi, Italy, and three apparently unrelated Greek families. Several groups around the world failed ...
Novel Twinkle (PE01) gene mutations in mendelian progressive external ophthalmoplegia
(2008)
Multiple deletions of mitochondrial DNA (mtDNA) are associated with different mitochondrial disorders inherited as autosomal dominant and recessive traits. Causative mutations have been found in five genes, mainly involved ...
THAP1 mutations and dystonia phenotypes: Genotype phenotype correlations
(2012)
THAP1 mutations have been shown to be the cause of DYT6. A number of different mutation types and locations in the THAP1 gene have been associated with a range of severity and dystonia phenotypes, but, as yet, it has been ...
Association Between the Interleukin-1 beta Gene (IL1B) C-511T Polymorphism and the Risk of Diabetic Nephropathy in Type 2 Diabetes: A Candidate-Gene Association Study
(2014)
Variants of the interleukin-1 beta gene (IL1B) are implicated in the development of diabetic nephropathy (DN). The present candidate-gene association study was conducted to investigate the association between the IL1B ...
Mutated α-synuclein gene in two greek kindreds with familial pd: Incomplete penetrance?
(1999)
The G209A mutation in the α-synuclein gene has been associated with autosomal dominant PD (ADPD) in a family from Contursi, Italy, and three apparently unrelated Greek families. Several groups around the world failed to ...
Independent and joint effects of the MAPT and SNCA genes in Parkinson disease
(2011)
Objective: We studied the independent and joint effects of the genes encoding alpha-synuclein (SNCA) and microtubule-associated protein tau (MAPT) in Parkinson disease (PD) as part of a large meta-analysis of individual ...