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Novel Twinkle (PE01) gene mutations in mendelian progressive external ophthalmoplegia
(2008)
Multiple deletions of mitochondrial DNA (mtDNA) are associated with different mitochondrial disorders inherited as autosomal dominant and recessive traits. Causative mutations have been found in five genes, mainly involved ...
Association between AKT1 gene and Parkinson's disease: A protective haplotype
(2008)
Variation in AKT1 has been associated with schizophrenia, bipolar disease and type 11 diabetes. The aim of the present study was to investigate the potential role of variability within AKT1 as a risk factor for Parkinson's ...
Haemodialysis patients with sleep apnoea syndrome experience increased central adiposity and altered muscular composition and functionality
(2008)
Background. Sleep apnoea frequently affects patients with end-stage renal disease. However, it is still unclear whether or to what extent sleep disorders may affect functional capacity and quality of life in haemodialysis ...
Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13
(2008)
Five loci for restless legs syndrome (RLS) on chromosomes 12q, 14q, 9p, 2q, and 20p (RLS1-RLS5) have been mapped in RLS families, with a recessive in the first and autosomal-dominant mode of inheritance in the latter cases. ...
Alpha-1 antichymotrypsin gene signal peptide A/T polymorphism and primary intracerebral hemorrhage
(2008)
Background/Aims: Alpha-1 antichymotrypsin (ACT), a serine proteinase inhibitor, has been implicated in vascular pathology. The TT genotype of the ACT signal peptide A/T polymorphism has been reported to confer susceptibility ...
Intradialytic aerobic exercise training ameliorates symptoms of restless legs syndrome and improves functional capacity in patients on hemodialysis
(2008)
We present the first study on the influence of exercise training on restless legs syndrome (RILS) in patients on hemodialysis (HD). Restless legs syndrome has been treated pharmacologically with satisfactory results; ...