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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 ...
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; ...
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 ...