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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 ...
Lack of evidence for a genetic association between FGF20 and Parkinson's disease in Finnish and Greek patients
(2005)
Background: Fibroblast growth factor 20 (FGF20) is a neurotrophic factor preferentially expressed in the substantia nigra of rat brain and could be involved in dopaminergic neurons survival. Recently, a strong genetic ...
Low RLS prevalence and awareness in central Greece: an epidemiological survey
(2007)
Restless legs syndrome (RLS) is a sensorimotor disorder with a general population prevalence of 3-10%. A single, previous epidemiological study performed in southeast Europe reported the lowest prevalence rate amongst ...
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. ...
Paraoxonase 1 gene polymorphisms in patients with osteonecrosis of the femoral head with and without cerebral white matter lesions
(2007)
Cerebral white matter lesions (WML) are present in more than 50% of patients with osteonecrosis of the femoral head (ONFH). Paraoxonase 1(PON1) gene product is a detoxifying and pesticide metabolizing enzyme. Genetic ...
A new stop codon mutation (Y52X) in the myophosphorylase gene in a Greek patient with McArdle's disease
(2002)
We identified a novel stop codon mutation in the myophosphorylase gene in a Greek patient with typical symptoms of McArdle's disease. This is the first genetic study of myophosphorylase deficiency in a Greek family, showing ...
IL-1RN and IL-1B gene polymorphisms and cerebral hemorrhagic events after traumatic brain injury
(2005)
Objective: To investigate the association of (variable number tandem repeat) interleukin (IL) 1RN and (-511) IL-1B gene polymorphisms with brain hemorrhagic events after traumatic brain injury (TBI). Methods: Data from ...
Molecular genetic study of myophosphorylase deficiency (McArdle's disease) in two Yemenite-Jewish families
(2002)
Using direct sequencing and restriction fragment length polymorphism analysis, we identified two novel mutations in two unrelated Yemenite-Jewish families with typical symptoms of McArdle's disease. In one family, both ...
Virus-mediated autoimmunity in multiple sclerosis
(2006)
Epidemiological data suggest the notion that in Multiple Sclerosis (MS) is an acquired autoimmune disease and the cause may be an environmental factor(s), probably infectious, in genetically susceptible individuals. Several ...