Keywords: Mitochondrial disorders; Epilepsy; MELAS; POLG1; Leukoencephalopathy;
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Keywords: MDs; mitochondrial diseases; PEO; progressive external ophthalmoplegia; MELAS; mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes; MERRF; myoclonic epilepsy with ragged-red fibres; MIDD; maternally inherited diabetes and deafness;
Keywords: Optic nerve; Second cranial nerve; Optic neuropathy; mtDNA; Oxidative phosphorylation; Mitochondrial; Respiratory chain; ADOA; Autosomal dominant optic atrophy; AION; Anterior ischemic optic neuropathy; AROA; Autosomal recessive optic atrophy; ATP; Adenos
Keywords: 1 RM; one repetition maximum; CM; citrulline malate; Cr; creatine; EE; endurance exercise; HIT; high intensity training; HMB; β-hydroxy-β-methylbutyric acid; MELAS; maternally inherited mitochondrial encephalomyopathy, lactic acidosis, and stroke-like e
Keywords: PD; Parkinson's disease; AD; Alzheimer's disease; ROS; reactive oxygen species; SNpc; substantia nigra pars compacta; MnSOD; manganese superoxide dismutase; CuSOD; copper superoxide dismutase; NO; nitric oxide; O2â; superoxide anion; ONOOâ; peroxy
Keywords: Molecular analysis; Neurodegenerative disorders; MELAS; Metabolic imaging; Hyperspectral;
Keywords: HRM; high-resolution melt profiling; MELAS; mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes; MERRF; myoclonic epilepsy with ragged red fibers; mtDNA; mitochondrial DNA; Amish; MELAS; Mitochondrial disease; ND5 gene; NDUFAF2 gene
Keywords: NAMDC; North American Mitochondrial Disease Consortium; RDCRN; Rare Disease Clinical Research Network; MD; mitochondrial disease; CPEO; chronic progressive external ophthalmoplegia; MELAS; mitochondrial encephalomyopathy with lactic acidosis and stroke; M
Keywords: monogenic diabetes; young type 2 diabetes; personalised medicine; CRP; C-reactive protein; HNF1A; hepatocyte nuclear factor 1 alpha; HNF4A; hepatocyte nuclear factor 4 alpha; HNF1B; hepatocyte nuclear factor 1 beta; GCK; glucokinase; IPSAD; International
Keywords: AHS; Alpers-Huttenlocher Syndrome; EPC; epilepsia-partialis-continua; KSS; Kearns-Sayre Syndrome; MELAS; Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like episodes; MIDD; Maternally Inherited Diabetes and Deafness; mtDNA; Mitochondrial DNA;
Keywords: GDM; MELAS; A3243G; MERRF; A8344G; Mitochondria
Keywords: Mitochondrial disease; Oxidative stress; Friedreich ataxia; Leber hereditary optic neuropathy; Leigh syndrome; MELAS; MERRF; Inflammation; Neurodegeneration; Neuroinflammation; Free radicals;
Keywords: Mitochondrial disorders; MRI; m.3243AÂ >Â G; SURF1; POLG1; MELAS; Stroke like lesions;
Keywords: NPMDS; Newcastle Pediatric Mitochondrial Disease Scale; GMFM-88; Gross Motor Function Measure with 88 items; JMDRS; Japanese Mitochondrial Disease Rating Scale; OXPHOS; Oxidative phosphorylation; MELAS; Mitochondrial myopathy, encephalopathy, lactic acido
Keywords: Mitochondria; Mitochondrial diseases; Neurodegenerative disorders; Pharmacological neuroprotection; Mitochondrie; Maladies mitochondriales; Maladies neurodégénératives; Neuroprotection pharmacologique; AD; Alzheimer's disease; AICAR; 5-aminoimidazole-4
Keywords: Mitochondrial diseases; MtDNA; Nuclear genome; Progressive external ophthalmoplegia; Exercise intolerance; Cerebellar ataxia; Refractory epilepsy; Movement disorders; Maladies mitochondriales; ADNmt; Génome nucléaire; Ophtalmoplégie progressive externe
Keywords: ADP; adenosine diphosphate; ALT; alanine aminotransferase; ATP; adenine triphosphate; CoA; coenzyme A; FAD; flavin adenine dinucleotide; FADH2; reduced flavin adenine dinucleotide; GPT; glutamate pyruvate transaminase; HIV; human immunodeficiency virus; L
Keywords: AED; antiepileptic drug; AHS; Alpers-Huttenlocher-syndrome; CNS; central nervous system; COX; Cytochrome-c-oxidase; CPEO; mitochondrial or nuclear chronic progressive external ophthalmoplegia; CSF; cerebro-spinal fluid; EMP; enecephalomyopathy; EP; ence
Keywords: CSF; cerebrospinal fluid; DCA; dichloroacetate; EDTA; ethylenediaminetetraacetic acid; GSTZ1; glutathione transferase zeta 1; MA; maleylacetone; MAAI; maleylacetoacetate isomerase; MELAS; mitochondrial encephalomyopathy, lactic acidosis and stroke-like ep
Keywords: ADR; adverse drug reaction; AED; antiepileptic drug; AHS; Alpers-Huttenlocher syndrome; ALP; alkaline phosphatase; ALT; alanine aminotransferase; AST; aspartate aminotransferase; CI; confidence interval; CYP; cytochrome p450; DRESS; drug reaction with eos
Keywords: Mitochondrial DNA (mtDNA); MELAS; Kearns–Sayre syndrome; Point mutation; Myoclonus epilepsy
Keywords: mt; mitochondrial; bp; base-pair; MELAS; mitochondrial encephalomyophathy, lactic acidosis, and stroke-like episodes; aa; amino acid(s); aa-RS; aminoacyl-tRNA synthetase; rho+; mt DNA wild-type; rho; mt DNA absent; NAM2; gene coding for the yeast mitochon
Survival analysis of a cohort of Chinese patients with mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) based on clinical features
Keywords: MELAS; Prognosis; Survival analysis; Survival curve; Risk factor;
Early identification of anti-NMDA receptor encephalitis presenting cerebral lesions in unconventional locations on magnetic resonance imaging
Keywords: ANA; antinuclear antibodies; AQP4-IgG; Aquaporin-4 antibodies; BLUL; brain lesions in unconventional locations; BG; basal ganglia; CSF; cerebrospinal fluid; CTX; intravenous cyclophosphamide; DWI; diffusion-weighted imaging; FLAIR; fluid attenuated invers
Different mitochondrial genetic defects exhibit the same protein signature of metabolism in skeletal muscle of PEO and MELAS patients: A role for oxidative stress
Keywords: α-F1 and β-F1; Alpha and beta subunits of the ATP synthase; ACO1; Aconitase 1; CORE II; Ubiquinol-cytochrome c reductase complex; CPT1; Carnitine palmitoyltransferase I; CS; Citrate synthase; ENO 1; Enolase 1; G6PDH; Glucose-6-phosphate dehydrogenase; G
Association between stroke-like episodes and neuronal hyperexcitability in MELAS with m.3243A>G: A case report
Keywords: MELAS; Stroke-like episodes; Hyperexcitability; Levetiracetam;
Anatomic & metabolic brain markers of the m.3243A>G mutation: A multi-parametric 7T MRI study
Keywords: 15-WLT; 15-Words Learning Task; ADL; Activities daily life; ASL; Arterial spin labeling; CBF; Cerebral blood flow; cGM; Cortical gray matter; CSF; Cerebral spinal fluid; CN; Caudate nucleus; CNR; Contrast-to-noise ratio; DN; Dentate nucleus; EPI; Echo pla
Molecular genetic analysis of Type II diabetes associated m.3243A>G mitochondrial DNA mutation in a Pakistani family
Keywords: mtDNA; mitochondrial DNA; tRNALeu; transfer RNA leucine; MELAS; encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome; MT-TL1; mitochondrial transfer RNA leucine 1; Type II diabetes; Mitochondrial DNA; PCR; DNA sequencing; m.3243A>G;
Short communicationIdentification of FASTKD2 compound heterozygous mutations as the underlying cause of autosomal recessive MELAS-like syndrome
Keywords: COX; cytochrome c oxidase; FASTKD2; FAS-activated serine-threonine kinase domain 2; GERP; genomic evolutionary rate profiling; GTC; generalized tonic-clonic seizure; HE; hematoxylin-eosin; MAF; minor allele frequency; mGT; modified Gomori trichrome; MELAS
Case reportAdult-onset of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome with hypothyroidism and psychiatric disorders
Keywords: 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
Original ArticleBlack Toenail Sign in MELAS Syndrome
Keywords: MELAS; mitochondria; FLAIR; gyrus; necrosis;
Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum
Keywords: Mitochondrial disorder; Epilepsia partialis continua; MELAS; Leigh syndrome;
Radboud Centre for Mitochondrial Medicine Pediatric MRI score
Keywords: 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;
Mitochonic Acid 5 (MA-5) Facilitates ATP Synthase Oligomerization and Cell Survival in Various Mitochondrial Diseases
Keywords: MA-5; 4-(2,4-difluorophenyl)-2-(1H-indole-3-yl)-4-oxobutanoic acid; MELAS; myopathy encephalopathy lactic acidosis and stroke-like episodes; KSS; Kearns-Sayre syndrome; LHON; Leber hereditary optic neuropathy; ETC; electron transfer complex; BSO; l-buthio
Case report: 5Â year follow-up of adult late-onset mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS)
Keywords: MELAS; Mitochondrial encephalomyopathy with lactic acid and stroke-like episodes; mtDNA; Mitochondrial DNA;
Audiological manifestations in mitochondrial encephalomyopathy lactic acidosis and stroke like episodes (MELAS) syndrome
Keywords: MELAS; Sensory neural deafness; Auditory neuropathy; m.3243A > G
The expanding phenotype of MELAS caused by the m.3291T > C mutation in the MT-TL1 gene
Keywords: MELAS; MELAS 3291T > C; tRNAleu (UUR) mutation; Phenotypic features; Mitochondrial
Distinctive distribution of brain volume reductions in MELAS and mitochondrial DNA A3243G mutation carriers: A voxel-based morphometric study
Keywords: MELAS; Mitochondrial DNA A3243G mutation carriers; Voxel-based morphometry; Superior parietal lobule; Precuneus; Middle temporal gyrus; Posterior lobe;
Original ArticleEpilepsy Characteristics and Clinical Outcome in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS)
Keywords: mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes; mitochondria; pediatric; seizures; epilepsy; MELAS;
The phenotypic spectrum of fifty Czech m.3243A>Â G carriers
Keywords: MELAS; m.3243AÂ >Â G; Heteroplasmy; Natural course; Fully expressed phenotype; Oligosymptomatic patients;
Acute encephalopathy of the temporal lobes leading to m.3243AÂ >Â G. When MELAS is not always MELAS
Keywords: MELAS; Encephalitis; Temporal lobes;
G7731A mutation in mouse mitochondrial tRNALys regulates late-onset disorders in transmitochondrial mice
Keywords: G7731A mtDNA mutation; Mitochondrial tRNALys gene; Transmitochondrial mice; Respiration defects; Late-onset disorders; Mitochondrial disease models; mtDNA; mitochondrial DNA; ÎmtDNA; mtDNA with large-scale deletions; CPEO; chronic progressive external op
Mutation loads in different tissues from six pathogenic mtDNA point mutations
Keywords: DNA; mtDNA, mitochondrial; MELAS; mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes; MD; mitochondrial disease; Mitochondrial DNA point mutations; Mutation load; Urine; MELAS; Mitochondrial diseases;
Skeletal muscle increases FGF21 expression in mitochondrial disorders to compensate for energy metabolic insufficiency by activating the mTOR-YY1-PGC1α pathway
Keywords: CS; citrate synthase; ECAR; extracellular acidification rate; FGF21; fibroblast growth factor; MELAS; mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes; mtDNA; mitochondrial DNA; mTOR; mammalian target of rapamycin; mTORC; mTOR co
Adrenal insufficiency in a child with MELAS syndrome
Keywords: MELAS; Adrenal insufficiency; Mitochondriopathy; Endocrinopathy
Mitochondrial Encephalopathy With Lactic Acidosis and Stroke-like Episodes (MELAS) May Respond to Adjunctive Ketogenic Diet
Keywords: MELAS; status epilepticus; ketogenic diet; magnesium; refractory seizures; respiratory chain complexes
β-Lapachone attenuates mitochondrial dysfunction in MELAS cybrid cells
Keywords: β-Lapachone; NQO1; MELAS; Mitochondria;
Mitochondrial tRNA cleavage by tRNA-targeting ribonuclease causes mitochondrial dysfunction observed in mitochondrial disease
Keywords: mnm5U; 5-methylaminomethyluridine; MELAS; mitochondrial myopathy, encephalopathy, lactic acidosis, stroke-like episodes; MERRF; myoclonic epilepsy with ragged-red fibers; MTS; mitochondrial-targeting sequence; TALEN; transcription activator-like effector
The yeast model suggests the use of short peptides derived from mt LeuRS for the therapy of diseases due to mutations in several mt tRNAs
Keywords: mt; mitochondrial; bp; base-pair; WT; wild type; MELAS; mitochondrial encephalomyophathy, lactic acidosis and stroke-like episodes; aa; amino acid(s); aaRS; aminoacyl-tRNA synthetase(s) (specificity is indicated by the name of the amino acid, abbreviated
ND3, ND1 and 39Â kDa subunits are more exposed in the de-active form of bovine mitochondrial complex I
Keywords: A/D; active/de-active transition; AH; amphipathic helix; BN-PAGE; blue native polyacrylamide gel electrophoresis; DIGE; difference gel electrophoresis; dSDS-PAGE; double SDS-PAGE; DTT; dithiothreitol; F-NHS; fluorescein-N-hydroxysulfosuccinimide ester; hr