Keywords: اختلالات میتوکندریایی; Mitochondrial disorders; Whole exome sequencing; mtDNA sequencing; Muscle biopsy;
مقالات ISI اختلالات میتوکندریایی (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: اختلالات میتوکندریایی; ADNmt; chaîne des OXPHOS; diagnostic moléculaire; maladies héréditaires du métabolisme; maladies mitochondriales; genetic diagnosis; metabolism inherited diseases; mitochondrial disorders; mtDNA; OXPHOS;
Keywords: اختلالات میتوکندریایی; Mitochondrial disorders; Epilepsy; MELAS; POLG1; Leukoencephalopathy;
Keywords: اختلالات میتوکندریایی; Myalgia; Myopathy; Muscle biopsy; Ultrasound; EMG; All neuromuscular diseases; Muscle disease; Mitochondrial disorders;
Keywords: اختلالات میتوکندریایی; Mitochondria; Mitochondrial disorders; Human complex I; Complex I assembly; Assembly factors;
Keywords: اختلالات میتوکندریایی; Mitochondrial disorders; MRI; m.3243AÂ >Â G; SURF1; POLG1; MELAS; Stroke like lesions;
Keywords: اختلالات میتوکندریایی; Maladie mitochondriale; ADN mitochondrial; ADN nucléaire; Mitochondrial disorders; Mitochondrial DNA; Nuclear DNA;
Keywords: اختلالات میتوکندریایی; Mitochondrial disorders; Epilepsy; Respiratory chain deficiency; Alpers syndrome; Ketogen diet; Maladies mitochondriales; Ãpilepsie; Déficit de la chaîne respiratoire; Syndrome d'Alpers; Régime cétogène;
Keywords: اختلالات میتوکندریایی; ACD; acid citrate dextrose; CI; complex I; CII; complex II; CIII; complex III; CIV; complex IV; ETS; electron transfer system; FCCP; carbonyl cyanide p-(trifluoromethoxy) phenylhydrazone; FFA; free fatty acids; mtDNA; mitochondrial DNA; OXPHOS; oxidative
Keywords: اختلالات میتوکندریایی; Mitochondrial disorders; Next generation sequencing; Massively parallel sequencing; mtDNA mutations; Comprehensive diagnosis of mitochondrial disorders; MITOME; MitoExome;
Keywords: اختلالات میتوکندریایی; Leukoencephalopathy; Alexander disease; Mitochondrial disorders; Lactic acid
Marked elevation in plasma trimethylamine-N-oxide (TMAO) in patients with mitochondrial disorders treated with oral l-carnitine
Keywords: اختلالات میتوکندریایی; l-carnitine; Trimethylamine N-oxide; Mitochondrial disorders;
Pathologies liées à des mutations de l'ADN mitochondrial
Keywords: اختلالات میتوکندریایی; ADN mitochondrial; chaîne respiratoire; hétéroplasmie; maladies mitochondriales; ségrégation mitotique; prestation de conseil; traçabilité; heteroplasmy; mitochondrial disorders; mitochondrial DNA; mitotic segregation; respiratory chain;
Les déficits de la chaîne respiratoire : démarche diagnostique des cytopathies mitochondriales
Keywords: اختلالات میتوکندریایی; activités enzymatiques; ADN mitochondrial; chaîne respiratoire; consommation d'oxygène; cytopathie mitochondriale; enzymatic activities; mitochondrial disorders; mitochondrial DNA; oxygen consumption; respiratory chain;
Mitochondrial leukoencephalopathies: A border zone between acquired and inherited white matter disorders in children?
Keywords: اختلالات میتوکندریایی; Leukoencephalopathies; Pediatric MS; ADEM; Mitochondrial disorders;
Case reportAdult-onset of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome with hypothyroidism and psychiatric disorders
Keywords: اختلالات میتوکندریایی; MELAS; mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; MIDs; Mitochondrial disorders; MRC; mitochondrial respiratory chain; ATP; adenosine triphosphate; CT; Computed tomography; MRI; magnetic resonance imaging; ROI; regio
Radboud Centre for Mitochondrial Medicine Pediatric MRI score
Keywords: اختلالات میتوکندریایی; MD; Mitochondrial Disorders; MRI; Magnetic Resonance Imaging; MELAS; Mitochondrial Encephalopathy with Lactic Acidosis and Stroke-like Episodes; MNGIE; Mitochondrial Neurogastrointestinal Encephalomyopathy; FLAIR; Fluid-attenuated Inversion Recovery; DWI;
Energy metabolism in neuronal/glial induction and in iPSC models of brain disorders
Keywords: اختلالات میتوکندریایی; Mitochondria; Metabolism; Neurons; Glia; Neural progenitors; Reprogramming; iPSCs; Mitochondrial disorders;
Coenzyme Q biosynthesis in health and disease
Keywords: اختلالات میتوکندریایی; Coenzyme Q; Ubiquinone; Coenzyme Q10 deficiency; Mitochondrial disorders; Steroid resistant nephrotic syndrome;
New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies
Keywords: اختلالات میتوکندریایی; Mitochondrial disorders; Next Generation Sequencing; Whole Exome sequencing; E4F1;
Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction
Keywords: اختلالات میتوکندریایی; Dominant optic atrophy; Brain imaging; Mitochondrial disorders; Magnetic resonance spectroscopy; OPA1; Optic nerve;
Cerebral hyperperfusion and decreased cerebrovascular reactivity correlate with neurologic disease severity in MELAS
Keywords: اختلالات میتوکندریایی; MELAS syndrome; Cerebrovascular reactivity; BOLD-fMRI; Mitochondrial disorders; Cerebral blood flow;
Review articleAlpha-fetoprotein, a fascinating protein and biomarker in neurology
Keywords: اختلالات میتوکندریایی; Alpha-fetoprotein (AFP); Diagnostic biomarker; AFP deficiency; Hereditary persistence of AFP; Ataxia Telangiectasia; Ataxia with oculomotor apraxia type 1 and 2; Mitochondrial disorders;
Small mitochondrial-targeted RNAs modulate endogenous mitochondrial protein expression in vivo
Keywords: اختلالات میتوکندریایی; Mitochondrial disorders; Translation inhibitors; Non-coding small chimeric RNA; Mitochondrial encoded proteins;
Metabolic White Matter Diseases and the Utility of MR Spectroscopy
Keywords: اختلالات میتوکندریایی; Brain tumor; Demyelination; Inborn errors of metabolism; Leukodystrophy; Mitochondrial disorders; MR Spectroscopy (MRS); Radiation therapy; Voxel;
A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - The NARP syndrome
Keywords: اختلالات میتوکندریایی; ffERG; full-field electroretinogram; LHON; Leber's hereditary optic neuropathy; MELAS; mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes; MERRF; myoclonic epilepsy with ragged red fibers; MID; mitochondrial disorders; mtDNA; mitoc
Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes
Keywords: اختلالات میتوکندریایی; CoQ; Coenzyme Q10; MDS; mitochondrial DNA depletion syndromes; HPLC; high pressure liquid chromatography; mtDNA; mitochondrial DNA; MRC; mitochondrial respiratory chain; CS; citrate synthase; Mitochondrial DNA depletion syndrome; Coenzyme Q10 deficiency;
Genetic and biochemical findings in Chinese children with Leigh syndrome
Keywords: اختلالات میتوکندریایی; Leigh syndrome; Mitochondrial disorders; Mitochondrial gene; Mitochondrial respiratory complex deficiency
Tres preguntas y una respuesta: algoritmo diagnóstico molecular en enfermedades mitocondriales
Keywords: اختلالات میتوکندریایی; Trastornos mitocondriales; Genética mitocondrial; Defectos de la fosforilación oxidativa; Mitochondrial disorders; Mitochondrial genetics; Oxidative phosporylation disorders;
A new mitochondrial point mutation in the transfer RNALys gene associated with progressive external ophthalmoplegia with impaired respiratory regulation
Keywords: اختلالات میتوکندریایی; Progressive external ophthalmoplegia; Mitochondrial disorders; Mitochondrial tRNA; Mitochondrial DNA mutation; Respiratory insufficiency;
Diagnostic accuracy of blood and CSF lactate in identifying children with mitochondrial diseases affecting the central nervous system
Keywords: اختلالات میتوکندریایی; Mitochondrial disorders; Cerebrospinal fluid; Lactate; Pyruvate; Children
Genetic variants in nuclear-encoded mitochondrial proteins are associated with oxidative stress in obsessive compulsive disorders
Keywords: اختلالات میتوکندریایی; Mitochondrial disorders; Nuclear DNA-encoded mitochondrial proteins; MnSOD; OCD; Oxidative stress; UCP-2
Cell-free synthesis of cytochrome bo3 ubiquinol oxidase in artificial membranes
Keywords: اختلالات میتوکندریایی; Cell-free protein synthesis; Cytochrome bo3 ubiquinol oxidase; Electron transport chain; Mitochondrial disorders; Artificial membrane; Synthetic bioarchitectures
Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells
Keywords: اختلالات میتوکندریایی; Micro-oxygraphy; Mitochondrial disorders; OXPHOS; Spectrophotometry;
Targeted array CGH as a valuable molecular diagnostic approach: Experience in the diagnosis of mitochondrial and metabolic disorders
Keywords: اختلالات میتوکندریایی; Targeted aCGH; Gene deletion; Mitochondrial disorders; Metabolic diseases; Molecular diagnosis
Fatal heart failure associated with CoQ10 and multiple OXPHOS deficiency in a child with propionic acidemia
Keywords: اختلالات میتوکندریایی; Mitochondrial disorders; Propionic acidemia; CoQ10 deficiency;
Mitochondrial dementia: A sporadic case of progressive cognitive and behavioral decline with hearing loss due to the rare m.3291T>C MELAS mutation
Keywords: اختلالات میتوکندریایی; Mitochondrial disorders; Dementia; Hearing loss; MELAS syndrome; Olanzapine; Wolff–Parkinson–White syndrome
Novel large-range mitochondrial DNA deletions and fatal multisystemic disorder with prominent hepatopathy
Keywords: اختلالات میتوکندریایی; Mitochondrial disorders; Hepatopathy; OXPHOS; Complex I; mtDNA deletion;
Relative frequency of known causes of multiple mtDNA deletions: Two novel POLG mutations
Keywords: اختلالات میتوکندریایی; Multiple deletions; POLG; Mitochondrial disorders; Cancer; mtDNA; Oxidative metabolism
Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation
Keywords: اختلالات میتوکندریایی; Mitochondria; Mitochondrial disorders; Hereditary spastic paraplegia; mtDNA; ATPase; ATP6 subunit
El espectro clÃnico de las mutaciones en POLG
Keywords: اختلالات میتوکندریایی; adCPEO; arCPEO; Enfermedades mitocondriales; Genes POLG1 y 2; Fenotipos clÃnicos; MIRAS; POLG γ; SANDO; adCPEO; arCPEO; Clinical phenotypes; Mitochondrial disorders; MIRAS; POLG1 and POLG2 genes; POLG γ; SANDO;
Elevated CSF-lactate is a reliable marker of mitochondrial disorders in children even after brief seizures
Keywords: اختلالات میتوکندریایی; Mitochondrial disorders; Epilepsy; Lactate; Alanine; Cerebrospinal fluid
Infantile mitochondrial encephalopathy
Keywords: اختلالات میتوکندریایی; Encephalomyopathies; Mitochondrial disorders; Mitochondrial DNA; Respiratory chain deficiencies
Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70
Keywords: اختلالات میتوکندریایی; TMEM70; Type IV 3-methylglutaconic aciduria; Hypertrophic cardiomyopathy; Reye-like syndrome; Hyperammonemia; ATP synthase; ATP5J; Respiratory complex V; Mitochondrial disorders; Case report;
174th ENMC International Workshop: Applying pre-implantation genetic diagnosis to mtDNA diseases: Implications of scientific advances 19-21 March 2010, Naarden, The Netherlands
Keywords: اختلالات میتوکندریایی; Mitochondrial DNA; Mitochondrial disorders; Pre-implantation genetic diagnosis (PGD); Ethics; Reproductive options; Genetic management;
Coexistence of mitochondrial and nuclear DNA mutations in a woman with mitochondrial encephalomyopathy and double cortex
Keywords: اختلالات میتوکندریایی; DCX; m.3243A > G; Mitochondrial disorders; Mental retardation
Cytopathies mitochondriales et dysfonction des muscles striés squelettiques : le point en 2010
Keywords: اختلالات میتوکندریایی; Mitochondrie; mitochondriopathies; diagnostic; métabolisme énergétique; myopathies métaboliques; Mitochondria; mitochondrial disorders; diagnosis; energetic metabolism; metabolic myopathies;
Treatment of mitochondrial electron transport chain disorders: A review of clinical trials over the past decade
Keywords: اختلالات میتوکندریایی; Controlled clinical trials; Mitochondrial disorders; Dichloroacetate; Arginine; Coenzyme Q10; Idebenone; Parkinson disease; Friedreich ataxia; Exercise;
Dysfonctions mitochondriales à l'origine de neuropathies périphériques
Keywords: اختلالات میتوکندریایی; Neuropathies périphériques; Maladies mitochondriales; ADN mitochondrial; Polymérase gamma; POLG; Mitofusine; Peripheral neuropathies; Mitochondrial disorders; Mitochondrial DNA; DNA polymerase gamma; POLG; Mitofusin;
Comparison of high-performance liquid chromatography with fluorescence detection versus enzymatic assay to measure blood pyruvate in clinical practice
Keywords: اختلالات میتوکندریایی; Pyruvate; Mitochondrial disorders; Analytical performance