Webb16 juni 2014 · Ataxic mutant mice can be used to represent models of cerebellar degenerative disorders. They serve for investigation of cerebellar function, pathogenesis of degenerative processes as well as of therapeutic approaches. Webb23 dec. 2024 · Ataxia-telangiectasia (A-T) is a rare genetic disorder characterized by progressive and severe ataxia linked to cerebellar atrophy, immunodeficiency …
A novel, ataxic mouse model of Ataxia Telangiectasia caused ... - bioRxiv
Webb6 aug. 2024 · Background Spinocerebellar ataxia 38 (SCA38) is a rare autosomal neurological disorder characterized by ataxia and cerebellar atrophy. SCA38 is caused by mutations of ELOVL5 gene. ELOVL5 gene encodes a protein, which elongates long chain polyunsaturated fatty acids (PUFAs). Knockout mice lacking Elovl5 recapitulate SCA38 … Webb1 jan. 2024 · To test whether SMRT compounds effectively treat A-T caused by a PTC, we need to create and validate a mouse model of A-T that incorporates a patient-derived PTC and displays ataxia. As a first step, we have created a mutant mouse that expresses a PTC in the Atm gene at the location on exon 15 that it occurs in many patients with A-T. list of perfect game pitchers
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Webb11 jan. 2024 · Brains from the C57BL6 mice dosed with DMF were used to perform a quantitative measurement on aconitase activity, and the results indicated a significant ( P < 0.05, 1-tailed t -test) and mean 1.12-fold increase in aconitase activity within the brain from mice dosed with 80 mg/kg DMF comparing to vehicle ( Fig. 2A ). WebbWe investigated 13 patients with Huntington's disease and assessed gait by filming and by gait analyzer before and after increasing haloperidol dosage, until chorea was suppressed or side effects intervened. The severity of chorea and ataxia was scored blindly from videotapes. Gaits were abnormal in 12 of 13 patients and 5 of 6 patients … Webb16 mars 2016 · Cerebellar Purkinje cells (PCs) are primarily affected in many spinocerebellar ataxias (SCA). In this study we investigated functional activity of PCs in transgenic mouse model of SCA2, a polyglutamine neurodegenerative hereditary disorder. In our studies we used extracellular single-unit recording method to compare … list of perfect 5th powers