نتایج جستجو برای: leigh disease
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When I tell people that I am a mathematics major and a studio art minor, overwhelmingly the response I get is one of surprise that I have chosen such a strange combination of disciplines. “They’re so different from each other!” people exclaim. Mathematics is often considered a “left-brained” discipline, logical and linear in its structure, and art a “rightbrained” activity, stirring one’s intui...
Biotin-thiamine responsive basal ganglia disease (BTBGD) is a rare metabolic condition caused by mutations in the SLC19A3 gene. BTBGD presents with encephalopathy and significant disease progression when not treated with biotin and/or thiamine. We present a patient of Mexican and European ancestry diagnosed with BTBGD found to have compound heterozygous frameshift mutations, one novel. Our repo...
Supernova can be polarized by an asymmetry in the explosion process, an off-center source of illumination, scattering in an envelope distorted by rotation or a binary companion, or scattering by the circumstellar dust. Careful polarimetry is the most powerful tool to study the 3-D geometry of supernovae. A deep understanding of the 3-D geometry of SNe is essential in using them as calibrated di...
We re-analyze the observed magnitude-redshift relation of type Ia supernovae (SNe Ia) and examine the possibility that the apparent acceleration of the cosmic expansion is not caused by dark energy, but is a consequence of large-scale inhomogeneities in the universe. We propose a method to describe phenomenologically the effects of the large-scale inhomogeneities, without depending on the speci...
Recent observations have extended the range of diversity among spectra of Type Ia supernovae. I briefly discuss SN Ia explosion models in the spectroscopic context, the observed diversity, and some recent results obtained with the Synow code for one normal and two peculiar SNe Ia. Relating the observational manifestations of diversity to their physical causes is looking like an ever more challe...
NEW CONSTRAINTS ON THE VARIABLE EQUATION OF STATE PARAMETER FROM X-RAY GAS MASS FRACTIONS AND SNE Ia
Recent measurements are suggesting that we live in a flat Universe and that its present accelerating stage is driven by a dark energy component whose equation of state may evolve in time. Assuming two different parameterizations for the function ω(z), we constrain their free parameters from a joint analysis involving measurements from X-Ray luminosity of galaxy clusters and SNe type Ia data.
We present the results of our analysis of Hubble Space Telescope (HST) and deep groundbased images to isolate the massive progenitor stars of the two recent core-collapse supernovae 2008bk and 2008cn. The identification of the progenitors is facilitated in one of these two cases by high-precision astrometry based on our HST imaging of SNe at late times.
Mitochondrial Complex IV [cytochrome c oxidase (COX)] deficiency is one of the most common respiratory chain defects in humans. The clinical phenotypes associated with COX deficiency include liver disease, cardiomyopathy and Leigh syndrome, a neurodegenerative disorder characterized by bilateral high signal lesions in the brainstem and basal ganglia. COX deficiency can result from mutations aff...
1. DiMauro, S., and Schon, E.A. 2003. Mitochondrial respiratory-chain diseases. N. Engl. J. Med. 348:2656–2668. 2. Janssen, R.J., Van Den Heuvel, L.P., and Smeitink, J.A. 2004. Genetic defects in the oxidative phosphorylation (OXPHOS) system. Expert Rev. Mol. Diagn. 4:143–156. 3. Zhu, Z., et al. 1998. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Lei...
Mitochondrial complex I (CI) deficiency is the most prevalent defect in the respiratory chain in paediatric mitochondrial disease. This heterogeneous group of diseases includes serious or fatal neurological presentations such as Leigh syndrome and there are very limited evidence-based treatment options available. Here we describe that cell membrane-permeable prodrugs of the complex II substrate...
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