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BACKGROUND Huntington's disease (HD) is a rare triplet repeat (CAG) disorder. Advanced, multi-centre, multi-national research frameworks are needed to study simultaneously multiple complementary aspects of HD. This includes the natural history of HD, its management and the collection of clinical information and biosamples for research. METHODS We report(More)
Mitochondria are semiautonomous organelles which contain their own genome. Both maintenance and expression of mitochondrial DNA require activity of RNA and DNA helicases. In Saccharomyces cerevisiae the nuclear genome encodes four DExH/D superfamily members (MSS116, SUV3, MRH4, IRC3) that act as helicases and/or RNA chaperones. Their activity is necessary(More)
PURPOSE Although the androgen receptor (AR) has been found to be expressed in female breast tumours, its role in breast cancer remains unclear. In addition to the oestrogen receptor (OR) and progesterone receptor (PR), AR functional status may be important in the control of female breast cancer growth. METHODS In order to define AR in breast cancer, 67(More)
In this study, the nitrogen fixing Astragalus glycyphyllos symbionts were characterized by phenotypic properties, restriction fragment length polymorphism (RFLP), and sequences of 16S rDNA. The generation time of A. glycyphyllos rhizobia in yeast extract mannitol medium was in the range 4–6 h. The studied isolates exhibited a low resistance to antibiotics,(More)
The phylogeny of symbiotic genes of Astragalus glycyphyllos L. (liquorice milkvetch) nodule isolates was studied by comparative sequence analysis of nodA, nodC, nodH and nifH loci. In all these genes phylograms, liquorice milkvetch rhizobia (closely related to bacteria of three species, i.e. Mesorhizobium amorphae, Mesorhizobium septentrionale and(More)
In this study, the phylogenetic relationship and taxonomic status of six strains, representing different phenons and genomic groups of Astragalus glycyphyllos symbionts, originating from Poland, were established by comparative analysis of five concatenated housekeeping gene sequences (atpD, dnaK, glnA, recA and rpoB), DNA-DNA hybridization and total DNA G+C(More)
Tremor often accompanies dystonia and some other movement disorders. There are no reports describing tremor in patients with hemifacial spasm (HFS). The aim of the study was to assess the occurrence, type and parameters of tremor in HFS patients. The study included 47 HFS patients (mean age: 58.6 ± 10.7-years-old) and 48 healthy volunteers matched by sex(More)
Several candidate modifier genes which, in addition to the pathogenic CAG repeat expansion, influence the age at onset (AO) in Huntington disease (HD) have already been described. The aim of this study was to replicate association of variations in the N-methyl D-aspartate receptor subtype genes GRIN2A and GRIN2B in the "REGISTRY" cohort from the European(More)
We aimed to assess the effect of three drugs belonging to amphiphilic cations, imipramine, amitriptyline and propranolol, on lipid synthesis and intracellular calcium homeostasis in glioma C6 cells. Antidepressants, imipramine and amitriptyline, had a stimulatory effect on [14C]serine incorporation into phosphatidylserine. Similar effect was induced by(More)
Hemifacial spasm (HFS) is a chronic movement disorder which presents as clonic and/or tonic facial muscle contractions frequently accompanied by many other sensory (visual or auditory disturbances, pain), motor (facial weakness, trismus, bruxism, dysarthria) and/or autonomic (lacrimation, salivation) symptoms. The aim of the study was to assess the(More)