about
Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficienciesMutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial diseaseStructural insight into processive human mitochondrial DNA synthesis and disease-related polymerase mutationsMutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndromeMitochondrial DNA mutations in human diseaseMitochondria in White, Brown, and Beige AdipocytesWhen should MELAS (Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes) be the diagnosis?Mitochondrial Oxidative Stress, Mitochondrial DNA Damage and Their Role in Age-Related Vascular DysfunctionLeber hereditary optic neuropathy: current perspectivesEvolutionary defined role of the mitochondrial DNA in fertility, disease and ageingA splicing mutation in the novel mitochondrial protein DNAJC11 causes motor neuron pathology associated with cristae disorganization, and lymphoid abnormalities in miceBiochemical diagnosis of mitochondrial disordersToward a therapy for mitochondrial diseaseMitochondrial rejuvenation after induced pluripotencyAssociation of mitochondrial antioxidant enzymes with mitochondrial DNA as integral nucleoid constituentsMitochondrial DNA depletion and fatal infantile hepatic failure due to mutations in the mitochondrial polymerase γ (POLG) gene: a combined morphological/enzyme histochemical and immunocytochemical/biochemical and molecular genetic studyCorrelative 3D superresolution fluorescence and electron microscopy reveal the relationship of mitochondrial nucleoids to membranes.Central nervous system manifestations of mitochondrial disorders.EFNS guidelines on the molecular diagnosis of mitochondrial disorders.Secondary dystonia-clinical clues and syndromic associationsFall in circulating mononuclear cell mitochondrial DNA content in human sepsis.Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathyrAAV/ABAD-DP-6His attenuates oxidative stress-induced injury of PC12 cells.Small Circular DNAs in Human Pathology.Therapeutic prospects for mitochondrial disease.Mitochondrial ATP synthase: architecture, function and pathology.New MT-ND6 and NDUFA1 mutations in mitochondrial respiratory chain disorders.The neuro-ophthalmology of mitochondrial diseaseGene therapy for the treatment of mitochondrial DNA disorders.Disrupting mitochondrial-nuclear coevolution affects OXPHOS complex I integrity and impacts human health.Neuroimaging of mitochondrial disease.Comprehensive association testing of common mitochondrial DNA variation in metabolic disease.Increased protein nitration in mitochondrial diseases: evidence for vessel wall involvement.Mito-nuclear co-evolution: the positive and negative sides of functional ancient mutationsMitochondrial encephalopathy, lactic acidosis, and stroke-like episode syndrome presenting with prolonged visual aura.Mitochondrial DNA mutations in disease and agingIn vivo correction of COX deficiency by activation of the AMPK/PGC-1α axis.Mice lacking TR4 nuclear receptor develop mitochondrial myopathy with deficiency in complex I.Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome.Maternally inherited mitochondrial DNA disease in consanguineous families.
P2860
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P2860
description
2004 nî lūn-bûn
@nan
2004 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Mitochondrial disorders
@ast
Mitochondrial disorders
@en
Mitochondrial disorders
@nl
type
label
Mitochondrial disorders
@ast
Mitochondrial disorders
@en
Mitochondrial disorders
@nl
prefLabel
Mitochondrial disorders
@ast
Mitochondrial disorders
@en
Mitochondrial disorders
@nl
P3181
P356
P1433
P1476
Mitochondrial disorders
@en
P2093
Stefano Di Donato
P304
P3181
P356
10.1093/BRAIN/AWH259
P407
P577
2004-10-01T00:00:00Z