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Absence of linkage to chromosomes 6q and 16p in a Greek population with knee osteoarthritis
(2006)
Osteoarthritis (OA) is a common age-related debilitating disease of the joints characterized by degeneration of the articular cartilage which leads to joint pain, discomfort, and immobility. Several risk factors have been ...
Genetics of restless legs syndrome (RLS): State-of-the-art and future directions
(2007)
Several studies demonstrated that 60% of restless legs syndrome (RLS) patients have a positive family history and it has been suggested that RLS is a highly hereditary trait. To date, several loci have been mapped but no ...
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 ...
Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations
(2000)
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder defined clinically by severe gastrointestinal dysmotility; cachexia; ptosis, ophthalmoparesis, or both; peripheral neuropathy; ...
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 ...
Brain MRI and proton MRS findings in infants and children with respiratory chain defects
(2005)
Objective: The aim of this study is to describe neuroimaging patterns in children with respiratory chain (RC) defects using magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (MRS) and to assess ...