Keywords: سندرم لی; Mitochondrial encephalomyopathies; Brain disease; Leigh syndrome; Metabolic stroke; Inborn error; Treatment;
مقالات ISI سندرم لی (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: سندرم لی; 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: سندرم لی; Mitochondrial diseases; Leigh syndrome; Stem cells from human exfoliated deciduous teeth; Bone health; Osteogenic differentiation; Osteoblasts;
Keywords: سندرم لی; Mitochondria; Nuclear transfer; Meiotic spindle; Oocyte; Leigh syndrome; Cytoplasm;
Keywords: سندرم لی; Leigh syndrome; mitochondrial disease; mitochondrial DNA; treatment;
Keywords: سندرم لی; Mitochondrial disease; Oxidative stress; Friedreich ataxia; Leber hereditary optic neuropathy; Leigh syndrome; MELAS; MERRF; Inflammation; Neurodegeneration; Neuroinflammation; Free radicals;
Keywords: سندرم لی; Leigh syndrome; FCMD; Mitochondria; Complex I + II deficiency
Keywords: سندرم لی; Leigh syndrome; Complex I deficiency; Heteroplasmy; mDNA mutation
Keywords: سندرم لی; Leigh syndrome; Induced pluripotent stem cells; iPSC; iPS cells; MT-ND5
Keywords: سندرم لی; FDG-PET; Leigh syndrome; neuroimaging; positron emission tomography; mitochondrial disease; PET
Novel IARS2 mutations in Japanese siblings with CAGSSS, Leigh, and West syndrome
Keywords: سندرم لی; CAGSSS; Whole-exome sequencing; Leigh syndrome; West syndrome; Mitochondrial disease;
Japanese Leigh syndrome case treated with EPI-743
Keywords: سندرم لی; Leigh syndrome; EPI-743; Succinate; Mitochondrial DNA;
Leigh syndrome with spinal cord involvement due to a hemizygous NDUFA1 mutation
Keywords: سندرم لی; NDUFA1; Leigh syndrome; Spinal cord involvement; Complex â
deficiency;
Cytochrome C oxydase deficiency: SURF1 gene investigation in patients with Leigh syndrome
Keywords: سندرم لی; SURF1 gene; Cytochrome C oxydase; Leigh syndrome; splicing defects;
Identification of homocysteine-suppressive mitochondrial ETC complex genes and tissue expression profile - Novel hypothesis establishment
Keywords: سندرم لی; Bet; betaine; BM; bone marrow; C. elegans; caenorhabditis elegans; CBS; cystathionine-β-synthase; CELMP; cardioencephalomyopathy; Cho; choline; CSE; cystathionineγ-lyase; CT; connective tissue; Cysta; cystathionine; D; days; DCC; dog cardiac cells; DD;
SURF1 knockout cloned pigs: Early onset of a severe lethal phenotype
Keywords: سندرم لی; Leigh syndrome; SURF1 KO; Genome editing; Pig; Mitochondrial disease;
Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome
Keywords: سندرم لی; BN-PAGE; blue native polyacryl amide gel electrophoresis; MRI; magnetic resonance imaging; EEG; electroencephalogram; OXPHOS; oxidative phosphorylation; SDS-PAGE; sodium dodecyl polyacrylamide gel electrophoresis; MRS; magnetic resonance spectroscopy; NDU
Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum
Keywords: سندرم لی; Mitochondrial disorder; Epilepsia partialis continua; MELAS; Leigh syndrome;
Modulation of mitochondrial dysfunction-related oxidative stress in fibroblasts of patients with Leigh syndrome by inhibition of prooxidative p66Shc pathway
Keywords: سندرم لی; Reactive oxygen species; Leigh syndrome; Complex I deficiency; Mitochondrial dysfunction; Hispidin;
Short communicationIdentification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency
Keywords: سندرم لی; Leigh syndrome; SURF1; COX deficiency; Deletion; Nonsense mutation;
Response to immunotherapy in a patient with adult onset Leigh syndrome and T9176C mtDNA mutation
Keywords: سندرم لی; Leigh syndrome; ATP6A; T9176C; Autoimmune encephalitis; Plasmapheresis; Intravenous immunoglobulin
Ndufs4 related Leigh syndrome: A case report and review of the literature
Keywords: سندرم لی; Leigh syndrome; Respiratory chain complex I; NDUFS4; BN-PAGE; Next generation sequencing;
Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene
Keywords: سندرم لی; Exome sequencing; NDUFAF6; Leigh syndrome; RNA analysis;
Identification of HIBCH Gene Mutations Causing Autosomal Recessive Leigh Syndrome: A Gene Involved in Valine Metabolism
Keywords: سندرم لی; Leigh syndrome; valine; inborn error of metabolism; HIBCH; whole exome sequencing
A mutation in MT-TW causes a tRNA processing defect and reduced mitochondrial function in a family with Leigh syndrome
Keywords: سندرم لی; LS; Leigh Syndrome; MT-TW; mitochondrial tRNA tryptophan; OXPHOS; oxidative phosphorylation; rRNA; ribosomal ribonucleic acid; tRNA; transfer ribonucleic acid; NGS; next generation sequencing; IUGR; intrauterine growth retardation; Leigh syndrome; Multi-o
Evolution of FOXRED1, an FAD-dependent oxidoreductase necessary for NADH:ubiquinone oxidoreductase (Complex I) assembly
Keywords: سندرم لی; DAO; D-amino acid oxidase; DDO; D-aspartate oxidase; DMGDH; dimethylglycine dehydrogenase; DMGO; dimethylglycine oxidase; FOXRED; FAD-dependent oxidoreductase; L2HGDH; L-2-hydroxyglutarate dehydrogenase; PDPR; pyruvate dehydrogenase phosphatase regulatory
Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease
Keywords: سندرم لی; HIBCH deficiency; Hydroxy-C4-carnitine; Valine metabolism; Newborn screening; Leigh syndrome
Glutathione metabolism links FOXRED1 to NADH:ubiquinone oxidoreductase (complex I) deficiency: A hypothesis
Keywords: سندرم لی; ABC; ATP-binding cassette; ADH3; alcohol dehydrogenase 3; ALDH; aldehyde dehydrogenase; CFTR; cystic fibrosis transmembrane conductance regulator; CPS1; carbamoyl phosphate synthase; DMGDH; dimethylglycine dehydrogenase; DHF; dihydrofolate; DMGO; dimethyl
A structural model for FOXRED1, an FAD-dependent oxidoreductase necessary for NADH: Ubiquinone oxidoreductase (complex I) assembly
Keywords: سندرم لی; CPS; carbamoyl phosphate synthase; DAO; d-amino acid oxidase; DMGDH; dimethylglycine dehydrogenase; DMGO; dimethylglycine oxidase; FOXRED; FAD-dependent oxidoreductase; HADHA; hydroxyacyl dehydrogenase; MDH; malate dehydrogenase; MSOX; monomeric sarcosine
Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome
Keywords: سندرم لی; Leigh syndrome; Mitochondria; NDUFV2; Complex I; Exome sequencingbp, base pair; In/Del, insertion/deletion; LHON, Leber's Hereditary Optic Neuropathy; MELAS, mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; MERFF, myocloni
Identification of a deletion in the NDUFS4 gene using array-comparative genomic hybridization in a patient with suspected mitochondrial respiratory disease
Keywords: سندرم لی; a-CGH; array-comparative genomic hybridization; CNVs; copy number variants; NDUFS4; NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18Â kDa (NADH-coenzyme Q reductase); PCR; polymerase chain reaction; ATPase6; ATP Synthase 6; SURF1; surfeit 1; Leigh syn
Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease
Keywords: سندرم لی; Biotin thiamine responsive basal ganglia disease; BTBGD; Leigh syndrome; SLC19A3; Basal ganglia; Thiamine transporter-2
Clinical and magnetic resonance imaging findings in patients with Leigh syndrome and SURF1 mutations
Keywords: سندرم لی; Leigh syndrome; COX deficiency; SURF1 mutation; Dentate nucleus; Inferior olivary nucleus
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening
Keywords: سندرم لی; MTFMT; Mitochondrial translation; OXPHOS deficiency; Exome sequencing; Leigh syndrome
Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT
Keywords: سندرم لی; Mitochondrial encephalomyopathy; Leigh syndrome; Mitochondrial translation; mt-tRNA modification;
Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2
Keywords: سندرم لی; A; Alanine; C; Cysteine; CSF; Cerebrospinal fluid; E; Glutamic acid; F; Phenylalanine; G; Glycine; L; Leucine; LS; Leigh syndrome; MRI; Magnetic resonance imaging; MRS; Magnetic resonance spectrometry; mtDNA; Mitochondrial DNA; NAA; N-acetylaspartic acid;
Glutathione: A redox signature in monitoring EPI-743 therapy in children with mitochondrial encephalomyopathies
Keywords: سندرم لی; Glutathione; EPI-743; Leigh syndrome; Oxidative stress; Mitochondrial encephalomyopathies;
Complex I impairment in mitochondrial diseases and cancer: Parallel roads leading to different outcomes
Keywords: سندرم لی; CI; complex I; CIII; complex III; CIV; complex IV; CV; complex V; DB; decyl-benzoquinone; D-loop; displacement loop; HIF1α; hypoxia inducible factor 1α; LDH; lactate dehydrogenase; LHON; Leber's hereditary optic neuropathy; LS; Leigh syndrome; MELAS; mi
Genetic and biochemical findings in Chinese children with Leigh syndrome
Keywords: سندرم لی; Leigh syndrome; Mitochondrial disorders; Mitochondrial gene; Mitochondrial respiratory complex deficiency
Late-onset Leigh syndrome with myoclonic epilepsy with ragged-red fibers
Keywords: سندرم لی; Leigh syndrome; MERRF; m.8344A>G
Juvenile parkinsonism, hypogonadism and Leigh-like MRI changes in a patient with m.4296G>A mutation in mitochondrial DNA
Keywords: سندرم لی; Hypogonadism; Leigh syndrome; Mitochondrial disease; Parkinsonism; tRNA isoleucine
Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome
Keywords: سندرم لی; Mitochondrial genome; Exome; Next-generation sequencing; Leigh syndrome; Homoplasmy; MT-ATP6; Lactic academia; Mitochondrial complex I; Inborn error of metabolism; CoQ10 deficiency; Molecular diagnostics
The role of complex II in disease
Keywords: سندرم لی; Paraganglioma; Pheochromocytoma; Renal cell carcinoma; Gastrointestinal stromal tumor; Carney–Stratakis syndrome; Leigh syndrome
Leigh syndrome caused by a novel m.4296GÂ >Â A mutation in mitochondrial tRNA isoleucine
Keywords: سندرم لی; Leigh syndrome; tRNA isoleucine; Mitochondrial DNA mutation; Heteroplasmy;
Beneficial effect of pyruvate therapy on Leigh syndrome due to a novel mutation in PDH E1α gene
Keywords: سندرم لی; Leigh syndrome; PDH E1α mutation; Pyruvate; Lactic acidosis; Therapy
Two Japanese patients with Leigh syndrome caused by novel SURF1 mutations
Keywords: سندرم لی; Leigh syndrome; SURF1 deficiency; Facial dysmorphism; Hypertrichosis
EPI-743 reverses the progression of the pediatric mitochondrial disease-Genetically defined Leigh Syndrome
Keywords: سندرم لی; Leigh syndrome; Mitochondrial disease; EPI-743;
Late-adult onset Leigh syndrome
Keywords: سندرم لی; Complex IV activity; Cytochrome oxidase deficiency; Late-adult onset; Leigh syndrome; Mitochondrial encephalopathy; Non-alcoholic Wernicke’s disease
Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: Lack of correlation with genotype
Keywords: سندرم لی; CIDEM; Center for Inherited Disorders of Energy Metabolism; CQ; cognitive quotient; DCA; dichloroacetate; MELAS; mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes; PDC; pyruvate dehydrogenase complex; TPP; thiamine pyrophosphat
Brain uptake of Tc99m-HMPAO correlates with clinical response to the novel redox modulating agent EPI-743 in patients with mitochondrial disease
Keywords: سندرم لی; HMPAO; Mitochondrial disease; EPI-743; Redox; SPECT; Leigh syndrome