Cerca
Items 31-40 di 55
Absence of aprataxin gene mutations in a Greek cohort with sporadic early onset ataxia and normal GAA triplets in frataxin gene
(2010)
Phenotype of patients with the aprataxin gene mutation varies and according to previous studies, screening of aprataxin gene could be useful, once frataxin gene mutation is excluded in patients with normal GAA expansion ...
The interplay between environmental and genetic factors in Parkinson's disease susceptibility: The evidence for pesticides
(2013)
Parkinson's disease (PD) is a common neurodegenerative disorder characterized by dopaminergic neuron loss in the substantia nigra. Several genetic and environmental factors have been implicated in the pathogenesis of PD. ...
Cognitive impairment in heart failure
(2012)
Cognitive impairment (CI) is increasingly recognized as a common adverse consequence of heart failure (HF). Although the exact mechanisms remain unclear, microembolism, chronic or intermittent cerebral hypoperfusion, and/or ...
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 ...
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 ...
Uremic Versus Idiopathic Restless Legs Syndrome: Impact on Aspects Related to Quality of Life
(2012)
Restless legs syndrome (RLS) affects both the general population and patients with chronic renal failure. Even though it has been suggested that all forms of RLS share a common pathophysi-ology, not much evidence exists ...