Keywords: چشم دردناک خارجی پیشرفته; MD(s); mitochondrial disease(s)); OXPHOS; oxidative phosphorylation; FAO; fatty acid oxidation; SIRS; systemic inflammatory response syndrome; KD; knockdown; ChIP; chromatin immunoprecipitation; CD4-Cre; CD4 cre recombinase; DAMPs; damage associated molec
مقالات ISI چشم دردناک خارجی پیشرفته (ترجمه نشده)
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Keywords: چشم دردناک خارجی پیشرفته; 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: چشم دردناک خارجی پیشرفته; Mitochondrial diseases; MtDNA; Nuclear genome; Progressive external ophthalmoplegia; Exercise intolerance; Cerebellar ataxia; Refractory epilepsy; Movement disorders; Maladies mitochondriales; ADNmt; Génome nucléaire; Ophtalmoplégie progressive externe
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: چشم دردناک خارجی پیشرفته; 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
Pathogenicity in POLG syndromes: DNA polymerase gamma pathogenicity prediction server and database
Keywords: چشم دردناک خارجی پیشرفته; AHS; Alpers-Huttenlocher syndrome; ANS; Ataxia neuropathy spectrum; IP; Intrinsic processivity subdomain of POLGA spacer-domain; MCHS; Childhood myocerebrohepatopathy spectrum; MEMSA; Myoclonic epilepsy myopathy sensory ataxia; PDB ID; Four-character iden
Polymorphisms in DNA polymerase γ affect the mtDNA stability and the NRTI-induced mitochondrial toxicity in Saccharomyces cerevisiae
Keywords: چشم دردناک خارجی پیشرفته; d4T; 3â²-deoxy-2â²,3â²-didehydrothymidine or stavudine; ddC; 2â²,3â²-dideoxycytidine or zalcitabine; Ed4T; 2â²,3â²-didehydro-3â²-deoxy-4â²-ethynylthymidine; EryR; resistant to erythromycin; exo; exonuclease; FLT; 3â²-fluoro-3â²-deoxythymidine;
Neuromelanin MRI in a family with mitochondrial parkinsonism harboring a Y955C mutation in POLG1
Keywords: چشم دردناک خارجی پیشرفته; Progressive external ophthalmoplegia; Parkinsonism; POLG1; Neuromelanin imaging; Mitochondrial DNA;
The mitochondrial transporter family SLC25: Identification, properties and physiopathology
Keywords: چشم دردناک خارجی پیشرفته; AAC; ADP/ATP carrier; AGC; aspartate/glutamate carrier; ALA; δ-aminolevulinic acid; APC; ATP-Mg/Pi carrier; CAC; carnitine/acylcarnitine carrier; CoA; coenzyme A; FA; fatty acid; HHH; hyperornithinemia-hyperammonemia-homocitrullinuria; MC; mitochondrial
A new mitochondrial point mutation in the transfer RNALys gene associated with progressive external ophthalmoplegia with impaired respiratory regulation
Keywords: چشم دردناک خارجی پیشرفته; Progressive external ophthalmoplegia; Mitochondrial disorders; Mitochondrial tRNA; Mitochondrial DNA mutation; Respiratory insufficiency;
In vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletion
Keywords: چشم دردناک خارجی پیشرفته; COX; cytochrome c oxidase; COX II; cytochrome c oxidase subunit II; DGUOK; deoxyguanosine kinase; dNMP; deoxy-nucleoside monophosphate; dNDP; deoxy-nucleoside diphosphate; dNTP; deoxy-nucleoside triphosphate; HIV; human immunodeficiency virus; HRP; horser
Two novel mutations in PEO1 (Twinkle) gene associated with chronic external ophthalmoplegia
Keywords: چشم دردناک خارجی پیشرفته; Progressive external ophthalmoplegia; PEO1 (C10ORF2); Mitochondrial myopathy; mtDNA multiple deletions; COX deficiency;
A novel mitochondrial DNA deletion producing progressive external ophthalmoplegia associated with multiple sclerosis
Keywords: چشم دردناک خارجی پیشرفته; Mitochondrial disease; Multiple sclerosis; Progressive external ophthalmoplegia
Mitochondrial DNA abnormalities in ophthalmological disease
Keywords: چشم دردناک خارجی پیشرفته; mtDNA; Mitochondrial disease; Progressive external ophthalmoplegia; Optic atrophy; LHON; Retinopathy; Extraocular muscle
Purification and functional characterization of human mitochondrial DNA polymerase gamma harboring disease mutations
Keywords: چشم دردناک خارجی پیشرفته; Mitochondrial DNA; DNA polymerase γ; p55 accessory subunit; Alpers syndrome; Progressive external ophthalmoplegia
The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders
Keywords: چشم دردناک خارجی پیشرفته; Mitochondrial disease diagnosis; Mitochondrial DNA depletion syndrome; Alpers–Huttenlocher syndrome; Ataxia-neuropathy spectrum disorders; Progressive external ophthalmoplegia; Childhood myocerebrohepatopathy spectrum; Myoclonic epilepsy myopathy sensory
A mechanistic view of human mitochondrial DNA polymerase γ: Providing insight into drug toxicity and mitochondrial disease
Keywords: چشم دردناک خارجی پیشرفته; DNA polymerase gamma; Mitochondrial genome; Nucleoside analog toxicity; Progressive external ophthalmoplegia; Pre-steady-state kinetics
Molecular analysis in a family presenting with a mild form of late-onset autosomal dominant chronic progressive external ophthalmoplegia
Keywords: چشم دردناک خارجی پیشرفته; mtDNA multiple deletions; mtDNA copy number; Progressive external ophthalmoplegia
DNA polymerase gamma and mitochondrial disease: Understanding the consequence of POLG mutations
Keywords: چشم دردناک خارجی پیشرفته; mtDNA; mitochondrial DNA; PEO; progressive external ophthalmoplegia; pol γ; DNA polymerase γ; NRTI; nucleoside reverse-transcriptase inhibitor; ad; autosomal dominant; WT; wild-type; ROS; reactive oxygen species; 8-oxo-dG; 8-oxo-7,8-dihydro-2â²-deoxygu
Two novel POLG1 mutations in a patient with progressive external ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and parkinsonism
Keywords: چشم دردناک خارجی پیشرفته; Progressive external ophthalmoplegia; Parkinsonism; Polymerase gamma; Mitochondrial DNA; Multiple mtDNA deletions;
Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy
Keywords: چشم دردناک خارجی پیشرفته; Mitochondrial DNA; mtDNA multiple deletions; Progressive external ophthalmoplegia; Sensory–cerebellar ataxia; ANT1; POLG1
An unusual case of congenital muscular dystrophy with normal serum CK level, external ophtalmoplegia, and white matter changes on brain MRI
Keywords: چشم دردناک خارجی پیشرفته; Congenital muscular dystrophy; Progressive external ophthalmoplegia; Bulbar syndrome; Merosin; α-DystroglycanBAEPs, brainstem auditory evoked potentials; CK, creatine kinase; CMD, MDC, congenital muscular dystrophy; COL6, collagen type VI; COX, cytochrome
Consequences of mutations in human DNA polymerase γ
Keywords: چشم دردناک خارجی پیشرفته; Polγ; DNA polymerase γ; PEO; progressive external ophthalmoplegia; ar; autosomal recessive; ad; autosomal dominant; SANDO; sensory ataxia, neuropathy, dysarthria and ophthalmoparesis; SNP; single nucleotide polymorphism; Mitochondrial DNA replication; P
Disorders of nuclear-mitochondrial intergenomic signaling
Keywords: چشم دردناک خارجی پیشرفته; mtDNA; mitochondrial DNA; PEO; progressive external ophthalmoplegia; ad; autosomal dominant; ar; autosomal recessive; SANDO; sensory-atactic neuropathy, dysarthria and ophthalmoplegia; SCAE; spino-cerebellar ataxia-epilepsy; TP; thymidine phosphorylase;