Keywords: میتوکندریوپاتی; Fanconi syndrome; mitochondriopathy; fatty acid oxidation; supercomplexes
مقالات ISI میتوکندریوپاتی (ترجمه نشده)
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در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778GÂ >Â A and m.14484TÂ >Â C of the mitochondrial DNA
Keywords: میتوکندریوپاتی; LHON; Mitochondriopathy; Mitochondrial DNA; Complex I; Respiratory chain; Oxidative phosphorylation;
Mitochondrial proteomic profile of complex IV deficiency fibroblasts: rearrangement of oxidative phosphorylation complex/supercomplex and other metabolic pathways
Keywords: میتوکندریوپاتی; Mitochondriopathy; Respiratory complex; Oxidative phosphorylation (OXPHOS); Proteome; MitocondriopatÃa; Complejo respiratorio; Fosforilación oxidativa (OXPHOS); Proteoma;
Mitochondrial proteomic profile of complex IV deficiency fibroblasts: rearrangement of oxidative phosphorylation complex/supercomplex and other metabolic pathways
Keywords: میتوکندریوپاتی; Mitochondriopathy; Respiratory complex; Oxidative phosphorylation (OXPHOS); Proteome; MitocondriopatÃa; Complejo respiratorio; Fosforilación oxidativa (OXPHOS); Proteoma;
LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study
Keywords: میتوکندریوپاتی; LYRM7; Mitochondriopathy; Complex III; Lactic acidosis; Encephalopathy; Whole exome sequencing;
Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules
Keywords: میتوکندریوپاتی; Mitochondriopathy; Complex I deficiency; ACAD9 defect; Lethal neonatal lactic acidosis; Multiorgan failure; Metabolic disease; Mitochondrial hyperplasia; Whole-exome sequencing
Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene
Keywords: میتوکندریوپاتی; LBSL; DARS2; Mitochondriopathy; Leukoencephalopathy; Magnetic resonance imaging;
Adrenal insufficiency in a child with MELAS syndrome
Keywords: میتوکندریوپاتی; MELAS; Adrenal insufficiency; Mitochondriopathy; Endocrinopathy
Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?
Keywords: میتوکندریوپاتی; CK elevation; Lipid myopathy; 3-Methylglutaconic aciduria; Muscular hypotonia; MELAS syndrome; Mitochondriopathy
Treatment of mitochondrial disorders
Keywords: میتوکندریوپاتی; Respiratory chain; Oxidative phosphorylation; Encephalomyopathy; Mitochondriopathy; Mitochondrial cytopathy; Cerebrum; Brain; Spinal cord; Multi-system diseaseAHS, Alpers Huttenlocher syndrome; ATP, adenosine-tri-phosphate; CCT, cerebral computed tomograp
Laminar cortical necrosis in mitochondrial disorders
Keywords: میتوکندریوپاتی; Respiratory chain; Oxidative phosphorylation; Encephalomyopathy; Mitochondriopathy; Mitochondrial cytopathy; Cerebrum; Brain; Imaging; Cerebral magnetic resonance imaging; Autopsy; Cortex
La l-arginine, une thérapeutique symptomatique efficace au cours d'un syndrome MELAS
Keywords: میتوکندریوپاتی; MELAS; l-arginine; Mitochondriopathie; Ãpisodes pseudovasculaires; MELAS; l-arginine; Mitochondriopathy; Stroke-like episodes;
Histopathological analysis of skeletal muscle in patients with Parkinson's disease and ‘dropped head’/‘bent spine’ syndrome
Keywords: میتوکندریوپاتی; Bent spine syndrome; Dropped head syndrome; Mitochondriopathy; ParkinsonismBSS, Bent spine syndrome; CS, Citrate synthase; DHS, Dropped head syndrome; EMG, Electromyography; H&E, Hematoxylin–eosin; PD, Parkinson's disease; MRI, Magnetic resonance imaging
Fatal manifestation of a de novo ND5 mutation: Insights into the pathogenetic mechanisms of mtDNA ND5 gene defects
Keywords: میتوکندریوپاتی; Leigh syndrome; Mitochondriopathy; Parkinsonism; Complex I; WPW; Diencephalic epilepsy
Investigation of children for mitochondriopathy confirms need for strict patient selection, improved morphological criteria, and better laboratory methods
Keywords: میتوکندریوپاتی; Mitochondriopathy; Children; Muscle biopsy; Electron transport complex; Histochemistry; Electron microscopy