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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 ...
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 ...
Evidence of an association between the scavenger receptor class B member 2 gene and Parkinson's disease
(2012)
Lysosomal protein 2 (LIMP2), the product of the scavenger receptor class B member 2 (SCARB2) gene, is a ubiquitously expressed transmembrane protein that is the mannose-6-phosphateindependent receptor for glucocerebrosidase ...
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study
(2011)
Background The leucine-rich repeat kinase 2 gene (LRRK2) harbours highly penetrant mutations that are linked to familial parkinsonism. However, the extent of its polymorphic variability in relation to risk of Parkinson's ...
Genetic assessment of familial and early-onset Parkinson's disease in a Greek population
(2014)
Background and purpose Although the first mutation associated with Parkinson's disease (PD) was identified several years ago in the alpha-synuclein (SNCA) gene in families of Greek and Italian ancestry, a more systematic ...
Investigation of Unmedicated Early Onset Restless Legs Syndrome by Voxel-Based Morphometry, T2 Relaxometry, and Functional MR Imaging during the Night-Time Hours
(2012)
BACKGROUND AND PURPOSE: The pathophysiology of eRLS has not yet been elucidated. The purpose of the study was to assess, in patients with eRLS, the volume, iron content, and activation of the brain during night-time episodes ...
Quantitative spectral analysis of vigilance EEG in patients with obstructive sleep apnoea syndrome
(2011)
Sleep disruption and blood gas abnormalities, observed in patients with obstructive sleep apnoea (OSA) syndrome, prevent sleep-related restorative processes and induce chemical or structural central nervous system cellular ...
Restless legs syndrome in hemodialysis patients: an epidemiologic survey in Greece
(2013)
Background: Restless legs syndrome (RLS) is a sensorimotor disorder characterized by an uncontrolled need to move extremities accompanied by unpleasant sensations, which frequently leads to sleep disturbances. In hemodialysis ...