نتایج جستجو برای: leigh disease
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IntroductionThe phenotypic variability of NARS2 associated disease is vast, yet not thoroughly explored. We present the and genetic features 2 siblings with early-onset mitochondrial encephalopathy due to pathogenic variant in NARS2, along results from a systematic literature review.AimsTo better delineate natural history disease.MethodsThe clinical radiological phenotype, morphological biochem...
BACKGROUND An increasing number of mitochondrial DNA (mtDNA) mutations, mainly in complex I genes, have been associated with variably overlapping phenotypes of Leber's hereditary optic neuropathy (LHON), mitochondrial encephalomyopathy with stroke-like episodes (MELAS) and Leigh syndrome (LS). We here describe the first case in which the m.4171C>A/MT-ND1 mutation, previously reported only in as...
BACKGROUND Leigh syndrome is an early onset, progressive, neurodegenerative disorder with developmental and motor skills regression. Characteristic magnetic resonance imaging abnormalities consist of focal bilateral lesions in the basal ganglia and/or the brainstem. The main cause is a deficiency in oxidative phosphorylation due to mutations in an mtDNA or nuclear oxidative phosphorylation gene...
We construct a new class of supersymmetric $AdS_3\times Y_7$ solutions type IIB supergravity, where $Y_7$ is an $S^5$ fibration over spindle, which are dual to $d=2$, $\mathcal{N}=(0,2)$ SCFTs. The constructed in sub-truncation $D=5$, $SO(6)$ maximal gauged supergravity and they all lie within the anti-twist class. show that central charge computed from gravity agrees with anomaly polynomial ca...
We report an exceptional case of life-threatening Escherichia coli-induced necrotizing fasciitis. A combined host-pathogen genetic analysis explained the phenotype: the host displayed a susceptibility to intravascular coagulation, and the strain was capable of producing a necrotic toxin (cytotoxic necrotizing factor 1), showing how E. coli can be a dermonecrotic pathogen.
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