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Neovascular glaucoma as a first clinical manifestation of multiple sclerosis
(2010)
Purpose: To report a case with neovascular glaucoma caused by severe occlusive retinal vasculitis, as a first clinical manifestation of multiple sclerosis (MS). Methods: Examination on an otherwise healthy 45-year-old man ...
The protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants
(2014)
The best validated susceptibility variants for Parkinson's disease are located in the α-synuclein (SNCA) and microtubule-associated protein tau (MAPT) genes. Recently, a protective p.N551K-R1398H-K1423K haplotype in the ...
Population-specific Frequencies for LRRK2 Susceptibility Variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium
(2013)
BackgroundVariants within the leucine-rich repeat kinase 2 gene are recognized as the most frequent genetic cause of Parkinson's disease. Leucine-rich repeat kinase 2 variation related to disease susceptibility displays ...
Paraoxonase 1 gene polymorphisms in patients with osteonecrosis of the femoral head with and without cerebral white matter lesions
(2007)
Cerebral white matter lesions (WML) are present in more than 50% of patients with osteonecrosis of the femoral head (ONFH). Paraoxonase 1(PON1) gene product is a detoxifying and pesticide metabolizing enzyme. Genetic ...
A new stop codon mutation (Y52X) in the myophosphorylase gene in a Greek patient with McArdle's disease
(2002)
We identified a novel stop codon mutation in the myophosphorylase gene in a Greek patient with typical symptoms of McArdle's disease. This is the first genetic study of myophosphorylase deficiency in a Greek family, showing ...
IL-1RN and IL-1B gene polymorphisms and cerebral hemorrhagic events after traumatic brain injury
(2005)
Objective: To investigate the association of (variable number tandem repeat) interleukin (IL) 1RN and (-511) IL-1B gene polymorphisms with brain hemorrhagic events after traumatic brain injury (TBI). Methods: Data from ...
Molecular genetic study of myophosphorylase deficiency (McArdle's disease) in two Yemenite-Jewish families
(2002)
Using direct sequencing and restriction fragment length polymorphism analysis, we identified two novel mutations in two unrelated Yemenite-Jewish families with typical symptoms of McArdle's disease. In one family, both ...
Effect of angiotensin-converting enzyme tag single nucleotide polymorphisms on the outcome of patients with traumatic brain injury
(2015)
Background Genetic variants appear to influence, at least to some degree, the extent of brain injury and the clinical outcome of patients who have sustained a traumatic brain injury (TBI). Angiotensin-converting enzyme ...
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, ...
Non-replication of association for six polymorphisms from meta-analysis of genome-wide association studies of Parkinson's disease: Large-scale collaborative study
(2010)
Early genome-wide association (GWA) studies on Parkinson's disease (PD) have not been able to yield conclusive, replicable signals of association, perhaps due to limited sample size. We aimed to investigate whether association ...