Keywords: میوپاتی میتوکندری; Mitochondrial myopathy; Renal transplant; Anesthesia;
مقالات ISI میوپاتی میتوکندری (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.
Keywords: میوپاتی میتوکندری; Biventricular noncompaction; Mitochondrial myopathy; Hypertrabeculation;
Keywords: میوپاتی میتوکندری; Oxygenation; Arterial occlusion; O2 supply; O2 extraction; Mitochondrial myopathy
Keywords: میوپاتی میتوکندری; Mitochondrial myopathy; Lactate kinetics; Lactate acidosis; Premature fatigue;
Two new cases of mitochondrial myopathy with exercise intolerance, hyperlactatemia and cardiomyopathy, caused by recessive SLC25A4 mutations
Keywords: میوپاتی میتوکندری; SLC25A4; ANT1; Exercise intolerance; Cardiomyopathy; Mitochondrial myopathy;
Progressive fat replacement of muscle contributes to the disease mechanism of patients with single, large-scale deletions of mitochondrial DNA
Keywords: میوپاتی میتوکندری; Single large-scale deletion; Chronic progressive external ophthalmoplegia; CPEO; Mitochondrial myopathy; Mitochondrial DNA deletion; Muscle fat fraction; MRI; 3243A>G;
MERRF Classification: Implications for Diagnosis and Clinical Trials
Keywords: میوپاتی میتوکندری; myoclonic epilepsy; mitochondrial myopathy; MT-TK; MT-TL1; POLG; MT-tRNA; gene-disease relationship; variant curation;
Dysphagia is prevalent in patients with CPEO and single, large-scale deletions in mtDNA
Keywords: میوپاتی میتوکندری; Chronic progressive external ophthalmoplegia; Dysphagia; Mitochondrial myopathy; Single large-scale deletion; CPEO;
Mitochondrial tRNA genes are hotspots for mutations in a cohort of patients with exercise intolerance and mitochondrial myopathy
Keywords: میوپاتی میتوکندری; Mitochondrial myopathy; Exercise intolerance; Mitochondrial DNA; tRNA gene;
A new mutation in the mitochondrial tRNAPro gene associated with early-onset neuromuscular phenotype and ragged-red fibers
Keywords: میوپاتی میتوکندری; Mitochondrial myopathy; mtDNA; MTTP gene; Neuromuscular disease; New mutation; NGS;
Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency
Keywords: میوپاتی میتوکندری; Pontocerebellar hypoplasia; SEPSECS; Selenoprotein biosynthesis deficiency; Optic nerve atrophy; Mitochondrial myopathy; MRI; Magnetic resonance imaging; PCH; Pontocerebellar hypoplasia; WES; Whole exome sequencing; RCE; Respiratory chain enzyme analysis;
Inactivation of Pif1 helicase causes a mitochondrial myopathy in mice
Keywords: میوپاتی میتوکندری; COX; cytochrome c oxydase; SDH; succinate dehydrogenase; NADH-TR; nicotinamide adenine dinucleotide dehydrogenase tetrazolium reductase; mtDNA; mitochondrial DNA; OXPHOS; oxidative phosphorylation; LX-PCR; long extension-PCR; mPIF67; mitochondrial PIF1 is
Obstetric complications in carriers of the m.3243AÂ >Â G mutation, a retrospective cohort study on maternal and fetal outcome
Keywords: میوپاتی میتوکندری; m.3243AÂ >Â G mutation; Mitochondrial myopathy; Encephalomyopathy; Lactic acidosis and stroke-like episodes (MELAS syndrome); Maternally inherited diabetes deafness (MIDD); Mitochondrial medicine; Preeclampsia; Diabetes gravidarum; Prematurity; Dysmaturit
Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene
Keywords: میوپاتی میتوکندری; MLASA; mitochondrial myopathy, lactic acidosis, and sideroblastic anemia; ETC; electron transport chain; CS; citrate synthase; OCR; oxygen consumption rate; OSR; oligomycin sensitive respiration; RC; respiratory capacity; SRC; spare respiratory capacity;
Mitochondrial DNA depletion in single fibers in a patient with novel TK2 mutations
Keywords: میوپاتی میتوکندری; Mitochondrial DNA depletion syndrome; Myopathy; Thymidine kinase 2; TK2; Mitochondrial myopathy
Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2
Keywords: میوپاتی میتوکندری; Dihydrolipoamide dehydrogenase deficiency; Mitochondrial myopathy; Branched-chain amino acids; α-Keto acids; Riboflavin; Chaperon;
The effect of citrulline and arginine supplementation on lactic acidemia in MELAS syndrome
Keywords: میوپاتی میتوکندری; Mitochondrial myopathy; Stroke-like episodes; Lactic acidosis; Endothelial dysfunction; Nitric oxide (NO); m.3243A>G heteroplasmy
Muscle regeneration in mitochondrial myopathies
Keywords: میوپاتی میتوکندری; Mitochondria; Muscle regeneration; Mitochondrial myopathy; mtDNA; Neonatal myosin heavy chain
Noninflammatory Myopathies
Keywords: میوپاتی میتوکندری; Myopathy; Metabolic myopathy; Differential diagnosis; Polymyositis; Mitochondrial myopathy; Muscle glycogenoses;
Case reportA case of myelopathy, myopathy, peripheral neuropathy and subcortical grey matter degeneration associated with recessive compound heterozygous POLG1 mutations
Keywords: میوپاتی میتوکندری; Compound heterozygous polymerase-gamma (POLG) mutations; Spinal cord degeneration; Dorsal column and dorsal spinocerebellar tract degeneration; Multiple mitochondrial DNA deletions; Peripheral neuropathy; Mitochondrial myopathy; COX-negative fibres; Ragge
Mitochondrial myopathy due to novel missense mutation in the cytochrome c oxidase 1 gene
Keywords: میوپاتی میتوکندری; Mitochondrial myopathy; Muscle inflammation; Cytochrome c oxidase; COX; MTCO1
Partial tandem duplication of mtDNA–tRNAPhe impairs mtDNA translation in late-onset mitochondrial myopathy
Keywords: میوپاتی میتوکندری; Mitochondrial myopathy; Oxidative phosphorylation; mtDNA; Cytochrome c oxidase; mtDNA translation; mtDNA mutation
Cytochrome c oxidase-intermediate fibres: Importance in understanding the pathogenesis and treatment of mitochondrial myopathy
Keywords: میوپاتی میتوکندری; Mitochondrial myopathy; mtDNA; cytochrome c oxidase; enzyme histochemistry;
Two novel mutations in PEO1 (Twinkle) gene associated with chronic external ophthalmoplegia
Keywords: میوپاتی میتوکندری; Progressive external ophthalmoplegia; PEO1 (C10ORF2); Mitochondrial myopathy; mtDNA multiple deletions; COX deficiency;
Recurrent myoglobinuria in a sporadic patient with a novel mitochondrial DNA tRNAIle mutation
Keywords: میوپاتی میتوکندری; Mitochondrial myopathy; Myoglobinuria; Mitochondrial DNA; tRNAIle; Myalgia; Elevated serum CK;
Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene
Keywords: میوپاتی میتوکندری; Mitochondrial myopathy; mt-tRNA gene; Exercise intolerance;
MERRF: Clinical features, muscle biopsy and molecular genetics in Brazilian patients
Keywords: میوپاتی میتوکندری; MERRF; Mitochondrial DNA; Mitochondrial myopathy; Muscle biopsy; Genetics;
MELAS syndrome, cardiomyopathy, rhabdomyolysis, and autism associated with the A3260G mitochondrial DNA mutation
Keywords: میوپاتی میتوکندری; MELAS syndrome; Leucine transfer RNA; Mitochondrial myopathy; Ragged red fibres;
Research ArticleClinical, biochemical, and pathological characteristics of clevudine-associated myopathy
Keywords: میوپاتی میتوکندری; Clevudine; Mitochondrial myopathy; Hepatitis B;
La miopatÃa isquémica en la enfermedad arterial periférica
Keywords: میوپاتی میتوکندری; Daño oxidativo; Enfermedad arterial periférica; MiopatÃas mitocondriales; Oxidative stress; Peripheral arterial disease; Mitochondrial myopathy;
A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion
Keywords: میوپاتی میتوکندری; mtDNA depletion; Mitochondrial myopathy; RRM2B; p53R2; Ribonucleotide reductase; dNTP synthesis;
Severe lactic acidosis secondary to minocycline in a teenager with infectious mononucleosis and mitochondrial myopathy
Keywords: میوپاتی میتوکندری; Mitochondrial myopathy; Lactic acidosis; Minocycline; Infectious mononucleosis; G8363A mutation; Ribosome inhibitor; Respiratory chain complexes
The m.5650GÂ >Â A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy
Keywords: میوپاتی میتوکندری; Mitochondrial myopathy; Mitochondrial tRNA mutation; Maternal inheritance;
Tubular aggregate myopathy: A rare form of myopathy
Keywords: میوپاتی میتوکندری; Tubular aggregate myopathy; Electron microscopy; Enzyme histochemistry; Metabolic myopathy; Mitochondrial myopathy
A defect in the thymidine kinase 2 gene causing isolated mitochondrial myopathy without mtDNA depletion
Keywords: میوپاتی میتوکندری; Mitochondrial myopathy; Thymidine kinase 2; mtDNA depletion; Respiratory chainMM, mitochondrial myopathy; TK2, thymidine kinase 2; COX, cytochrome c oxidase; RC, respiratory chain; MDS, mitochondrial depletion syndrome
Novel mitochondrial tRNALeu(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype
Keywords: میوپاتی میتوکندری; mtDNA; Mitochondrial myopathy; FSHD;
Serial brain imaging analysis of stroke-like episodes in MELAS
Keywords: میوپاتی میتوکندری; Mitochondrial myopathy; Encephalopathy; Lactic acidosis and stroke-like episodes (MELAS); 1H-MRS
Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene
Keywords: میوپاتی میتوکندری; mtDNA depletion; Mitochondrial myopathy; RRM2B
The mitochondrial cocktail: Rationale for combined nutraceutical therapy in mitochondrial cytopathies
Keywords: میوپاتی میتوکندری; Antioxidant; MELAS; LHON; Mitochondrial myopathy; Neuroprotection
Clinical implications of mitochondrial disease
Keywords: میوپاتی میتوکندری; Mitochondrial myopathy; Mitochondrial cytopathy; Inherited encephalomyopathy; Oxidative stress; Aging; Ischemic preconditioning; Anesthetic toxicity; Bioenergetics; Apoptosis
Mitochondrial myopathy associated with myasthenia gravis in a young man
Keywords: میوپاتی میتوکندری; Myasthenia gravis; Mitochondrial myopathy; Chronic progressive external ophthalmoplegia (CPEO); Ragged-red fibers; Acetylcholine receptor antibody
A novel mutation 3090 GÂ >Â A of the mitochondrial 16S ribosomal RNA associated with myopathy
Keywords: میوپاتی میتوکندری; Mitochondrial myopathy; mtDNA; 16S ribosomal RNA gene mutation; Combined respiratory chain deficiency;
Oculopharyngeal somatic myopathy in a patient with a novel large-scale 3399Â bp deletion and a homoplasmic T5814C transition of the mitochondrial DNA
Keywords: میوپاتی میتوکندری; Oculopharyngeal somatic myopathy; Mitochondrial myopathy; Large-scale deletion; Mutation; Polymorphism; Mitochondrial DNA; tRNACys;
A novel sporadic mutation G14739A of the mitochondrial tRNAGlu in a girl with exercise intolerance
Keywords: میوپاتی میتوکندری; Mitochondria; mtDNA; tRNA; Mitochondrial myopathy
Cochlear damage due to germanium-induced mitochondrial dysfunction in guinea pigs
Keywords: میوپاتی میتوکندری; Hearing loss; Mitochondrial myopathy; Mitochondrial DNA; Cochlea; Muscle; Kidney
Novel mutations in the thymidine kinase 2 gene (TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA depletion
Keywords: میوپاتی میتوکندری; Mitochondrial DNA depletion; Thymidine kinase-2; Mitochondrial myopathy; Infants; Children;
Congenital or late-onset myopathy in patients with the T14709C mtDNA mutation
Keywords: میوپاتی میتوکندری; Mitochondrial myopathy; Diabetes mellitus; Maternal inheritance; mtDNA;
Mutations in mtDNA-encoded cytochrome c oxidase subunit genes causing isolated myopathy or severe encephalomyopathy
Keywords: میوپاتی میتوکندری; Mitochondrial myopathy; Cytochrome c oxidase deficiency; COII; COIII mutations;
Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genes
Keywords: میوپاتی میتوکندری; Mitochondrial myopathy; Mitochondrial encephalomyopathy; Pigmentary retinopathy; Mitochondrial DNA; Mitochondrial tRNA mutation; Complex I deficiency; Complex IV deficiency; Cytochrome c oxidase negative fibers; Hair root analysis; Pathogenesis of mitocho