Keywords: نوروپاتی اپتیکی ارثی Leber; EGP; Egyptian person; HQ; High quality; LD; Linkage disequilibrium; LHON; Leber's hereditary optic neuropathy; mtDNA; Mitochondrial DNA; NGS; Next generation sequencing; rCRS; revised Cambridge reference sequence; SNP; Single nucleotide polymorphism; WGS;
مقالات ISI نوروپاتی اپتیکی ارثی Leber (ترجمه نشده)
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Keywords: نوروپاتی اپتیکی ارثی Leber; Inherited optic neuropathies; Leber's Hereditary Optic Neuropathy; Dominant optic atrophy; Incomplete penetrance; Genetic modifiers; Environmental triggers;
Keywords: نوروپاتی اپتیکی ارثی Leber; Melanopsin; Retinal ganglion cells; Mitochondria; Leber's hereditary optic neuropathy; Dominant optic atrophy; Optic atrophy; Light; Robustness; Alzheimer;
Keywords: نوروپاتی اپتیکی ارثی Leber; Neuropathies optiques; Neuropathie optique héréditaire de Leber; Atrophie optique dominante; Maladie de Kjer; Syndrome de Wolfram; Optic neuropathy; Chronic progressive external ophthalmoplegia; Retinitis pigmentosa; Leber's hereditary optic neuropathy;
Keywords: نوروپاتی اپتیکی ارثی Leber; Hereditary optic neuropathy; Leber's hereditary optic neuropathy; Autosomal dominant optic atrophy; Wolfram syndrome; Toxic mitochondrial optic neuropathies; Neuropathie optique héréditaire; Neuropathie optique héréditaire de Leber; Atrophie optique d
Keywords: نوروپاتی اپتیکی ارثی Leber; 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: نوروپاتی اپتیکی ارثی Leber; 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: نوروپاتی اپتیکی ارثی Leber; AD; Alzheimer's disease; AIF; apoptosis-inducing factor; ATP; adenosine triphosphate; CI; complex I, NADH:ubiquinone oxidoreductase; coQ; coenzyme Q10, ubiquinone; kDa; kilo Dalton; LHON; Leber's hereditary optic neuropathy; MIM; mitochondrial inner membr
Keywords: نوروپاتی اپتیکی ارثی Leber; AD; Alzheimer disease; Aβ; amyloid-β; APP; amyloid-β protein precursor; ADDL; Aβ-derived diffusible ligand; ApoE4; apolipoprotein E; COX; cytochrome c oxidase; DLP1, aka Drp1; dynamin-like protein 1; ETC; electron transport chain; LHON; Leber's heredi
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: نوروپاتی اپتیکی ارثی Leber; 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
Mitochondrial tRNALeu(UUR) C3275T, tRNAGln T4363C and tRNALys A8343G mutations may be associated with PCOS and metabolic syndrome
Keywords: نوروپاتی اپتیکی ارثی Leber; PCOS; polycystic ovary syndrome; T2DM; type 2 diabetes mellitus; MetS; metabolic syndrome; mtDNA; mitochondrial DNA; TG; triglyceride; HbA1c; Hemoglobin A1c; MMP; mitochondrial membrane potential; ROS; reactive oxygen species; PMNs; polymononuclear leukoc
Whole mitochondrial genome analysis in South Indian patients with Leber's hereditary optic neuropathy
Keywords: نوروپاتی اپتیکی ارثی Leber; Leber's hereditary optic neuropathy; Mitochondria; Mutation; Haplogroup; South India; Primary mutation;
ReviewInvestigating Leber's hereditary optic neuropathy: Cell models and future perspectives
Keywords: نوروپاتی اپتیکی ارثی Leber; CRISPR; Clustered Regularly Interspaced Short Palindromic Repeats; EBV; Epstein Barr virus; LHON; Leber's hereditary optic neuropathy; RGC; retinal ganglion cells; EtBr; ethidium bromide; mitoTALENs; mitochondria targeted transcription-activator-like effe
Natural History of Conversion of Leber's Hereditary Optic Neuropathy
Keywords: نوروپاتی اپتیکی ارثی Leber; HVF; Humphrey Visual Field; LHON; Leber's hereditary optic neuropathy; logMAR; logarithm of the minimum angle of resolution; MD; mean deviation; OCT; optical coherence tomography; RNFL; retinal nerve fiber layer;
Novel MT-ND5 gene mutation identified in Leber's hereditary optic neuropathy patient using mitochondrial genome sequencing
Keywords: نوروپاتی اپتیکی ارثی Leber; Leber's hereditary optic neuropathy; LHON; Mitochondrial genome sequencing; Next-generation sequencing; Molecular diagnosis;
NeuropatÃa óptica hereditaria de Leber por mutación G11778A del ADN mitocondrial. Manejo de un caso
Keywords: نوروپاتی اپتیکی ارثی Leber; NeuropatÃa óptica hereditaria de Leber; Mutación G11778A; Penetrancia incompleta; Consejo genético; Telangiectasias; Leber's hereditary optic neuropathy; G11778A mutation; Incomplete penetrance; Genetic counseling; Telangiectasia;
Mitochondrial DNA copy number, but not haplogroup is associated with keratoconus in Han Chinese population
Keywords: نوروپاتی اپتیکی ارثی Leber; Keratoconus; mtDNA; Copy number; Haplogroup; Association study; KC; keratoconus; mtDNA; mitochondrial DNA; ROS; reactive oxygen species; OS; oxidative stress; OXPHOS; oxidative phosphorylation; LHON; Leber's hereditary optic neuropathy; rCRS; revised Camb
Leber's hereditary optic neuropathy caused by the homoplasmic ND1 m.3635G>A mutation in nine Han Chinese families
Keywords: نوروپاتی اپتیکی ارثی Leber; Leber's hereditary optic neuropathy; Mitochondria; Mutation; NADH:ubiquinone oxidoreductase; Maternal inheritance;
ND3, ND1 and 39Â kDa subunits are more exposed in the de-active form of bovine mitochondrial complex I
Keywords: نوروپاتی اپتیکی ارثی Leber; 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
A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - The NARP syndrome
Keywords: نوروپاتی اپتیکی ارثی Leber; 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
Short CommunicationApplications of the method of high resolution melting analysis for diagnosis of Leber's disease and the three primary mutation spectrum of LHON in the Han Chinese population
Keywords: نوروپاتی اپتیکی ارثی Leber; LHON; Leber's hereditary optic neuropathy; HRM; high-resolution melt; mtDNA; mitochondrial DNA; SNP; single nucleotide polymorphism; HRM; Leber's hereditary optic neuropathy; Mitochondrial DNA; Polymorphism;
Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated m.14484T>C (MT-ND6) mutation in Chinese families
Keywords: نوروپاتی اپتیکی ارثی Leber; Leber's hereditary optic neuropathy; Mitochondrial DNA mutation; ND6; Penetrance; Haplogroup; Chinese;
TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane
Keywords: نوروپاتی اپتیکی ارثی Leber; HON; hereditary optic neuropathy; RGC; retinal ganglion cell; mtDNA; mitochondrial DNA; LHON; Leber's Hereditary Optic Neuropathy; OPA; optic atrophy; TMEM126A; transmembrane protein 126A; IMS; intermembrane space; OM; outer membrane; IM; inner membrane;
Complex I impairment in mitochondrial diseases and cancer: Parallel roads leading to different outcomes
Keywords: نوروپاتی اپتیکی ارثی Leber; 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
Tobacco–alcohol amblyopia: A diagnostic dilemma
Keywords: نوروپاتی اپتیکی ارثی Leber; Amblyopia; Scotoma; Wernickes Korsakoff; Leber's Hereditary Optic Neuropathy
Neuropathies optiques héréditaires
Keywords: نوروپاتی اپتیکی ارثی Leber; Neuropathies optiques héréditaires; Neuropathie optique héréditaire de Leber; Atrophie optique autosomique dominante; Maladie de Kjer; Hereditary optic neuropathies; Leber's hereditary optic neuropathy; Autosomal dominant optic atrophy; Kjer's disease
Vision improvement in a Taiwanese (Han Chinese) family with Leber's hereditary optic neuropathy
Keywords: نوروپاتی اپتیکی ارثی Leber; Han Chinese; Leber's hereditary optic neuropathy; Mitochondrial DNA; m.14484T>C mutation
Oxidative phosphorylation differences between mitochondrial DNA haplogroups modify the risk of Leber's hereditary optic neuropathy
Keywords: نوروپاتی اپتیکی ارثی Leber; Leber's hereditary optic neuropathy; Oxidative phosphorylation; Mitochondrial DNA; Haplogroup; Cybrid;
The effects of idebenone on mitochondrial bioenergetics
Keywords: نوروپاتی اپتیکی ارثی Leber; CRC; calcium retention capacity; Cs; cyclosporin; DMEM; Dulbecco's modified Eagle's medium; ÎÏm; mitochondrial membrane potential difference; DTT; dithiothreitol; FCCP; carbonylcyanide-p-trifluoromethoxyphenyl hydrazone; LHON; Leber's hereditary optic n
Mitochondrial dysfunction in glaucoma: Understanding genetic influences
Keywords: نوروپاتی اپتیکی ارثی Leber; RGC; retinal ganglion cell; POAG; primary open angle glaucoma; mtDNA; mitochondrial DNA; IOP; intraocular pressure; ADOA; autosomal dominant optic atrophy; LHON; Leber's hereditary optic neuropathy; ROS; reactive oxygen species; OXPHOS; oxidative phosphor
Hypersensitivity of A8344G MERRF mutated cybrid cells to staurosporine-induced cell death is mediated by calcium-dependent activation of calpains
Keywords: نوروپاتی اپتیکی ارثی Leber; CPEO; Chronic Progressive External Ophthalmoplegia; KSS; Kearns-Sayre Syndrome; LHON; Leber's Hereditary Optic Neuropathy; MELAS; Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-like episodes; MERRF; Myoclonic Epilepsy with Ragged Red Fibers;
Mitochondrial dysfunction due to Leber's hereditary optic neuropathy as a cause of visual loss during assessment for epilepsy surgery
Keywords: نوروپاتی اپتیکی ارثی Leber; Wada test; Leber's hereditary optic neuropathy; Mitochondria; Epilepsy; Visual disturbance;
Mitochondrial dysfunction and Alzheimer's disease
Keywords: نوروپاتی اپتیکی ارثی Leber; ABAD; amyloid-beta (Aβ) binding alcohol dehydrogenase; AD; Alzheimer's disease; APOE2; Apolipoprotein E epsilon-2 allele; APOE3; Apolipoprotein E epsilon-3 allele; APOE4; Apolipoprotein E epsilon-4 allele; APP; amyloid precursor protein; ATP; Adenosine-5
Mitochondrial haplogroup M9a specific variant ND1 T3394C may have a modifying role in the phenotypic expression of the LHON-associated ND4 G11778A mutation
Keywords: نوروپاتی اپتیکی ارثی Leber; Leber's hereditary optic neuropathy; Visual loss; Mitochondrial DNA; Mutation; Haplogroup; Modifier; Chinese;
Characterization of two different acyl carrier proteins in complex I from Yarrowia lipolytica
Keywords: نوروپاتی اپتیکی ارثی Leber; 2D BN/SDS PAGE; two dimensional blue native/sodium dodecyl sulfate polyacrylamide gel electrophoresis; ACP; acyl carrier protein; ACPM; mitochondrial acyl carrier protein; DBQ; n-decylubiquinone; dNADH; deamino nicotinamide adenine dinucleotide, reduced f
Low penetrance of Leber's hereditary optic neuropathy in ten Han Chinese families carrying the ND6 T11484C mutation
Keywords: نوروپاتی اپتیکی ارثی Leber; Mitochondria; Leber's hereditary optic neuropathy; Penetrance; Haplogroup; Mutation; Chinese; ND6;
Multiple sclerosis associated with Leber's Hereditary Optic Neuropathy
Keywords: نوروپاتی اپتیکی ارثی Leber; Multiple sclerosis; Leber's Hereditary Optic Neuropathy; Mitochondria; Harding's disease
Mitochondrial variants may influence the phenotypic manifestation of Leber's hereditary optic neuropathy-associated ND4 G11778A mutation
Keywords: نوروپاتی اپتیکی ارثی Leber; Leber's hereditary optic neuropathy; mitochondrial DNA; mutation; haplotype; vision loss; modifier; Chinese
Atypical presentation of Leber's hereditary optic neuropathy associated to mtDNA 11778G>A point mutation—A case report
Keywords: نوروپاتی اپتیکی ارثی Leber; Leber's hereditary optic neuropathy; MtDNA; 11778G>A; Atypical presentation; Epilepsy; Neurodegeneration
Mitochondrial D-Loop Variation in Leber Hereditary Neuropathy Patients Harboring Primary G11778A, G3460A, T14484C Mutations: J and W Haplogroups as High-Risk Factors
Keywords: نوروپاتی اپتیکی ارثی Leber; Mitochondrial DNA; Leber's hereditary optic neuropathy; Haplogroup; D-loop
Leber's hereditary optic neuropathy: A multifactorial disease
Keywords: نوروپاتی اپتیکی ارثی Leber; Leber's hereditary optic neuropathy; LHON; Mitochondria; Optic neuropathy; Complex I; Heteroplasmy
Leber's hereditary optic neuropathy: a case report
Keywords: نوروپاتی اپتیکی ارثی Leber; Hypoplastic disk; Leber's hereditary optic neuropathy; mitochondrial DNA point mutation; Paton's folds; telangiectasia;
Mitochondrial dysfunction in cardiovascular disease
Keywords: نوروپاتی اپتیکی ارثی Leber; Mitochondria; Cardiovascular; Atherosclerosis; mtDNA; Oxidative stress; CVD; cardiovascular disease; oxLDL; oxidized low-density lipoprotein; OXPHOS; oxidative phosphorylation; ANT; adenine nucleotide translocase; LHON; Leber's hereditary optic neuropathy