Keywords: آتروفی اپتیکی; Melanopsin; Retinal ganglion cells; Mitochondria; Leber's hereditary optic neuropathy; Dominant optic atrophy; Optic atrophy; Light; Robustness; Alzheimer;
مقالات ISI آتروفی اپتیکی (ترجمه نشده)
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Keywords: آتروفی اپتیکی; glutaric aciduria type 1; newborn screening; nystagmus; optic atrophy; Taiwan;
Keywords: آتروفی اپتیکی; MetS; metabolic syndrome; GFR; glomerular filtration rate; ROS; reactive oxygen species; Ox-LDL; oxidized low-density lipoprotein; ELAM; elamipretide; mPTP; mitochondrial permeability transition pore; PBS; phosphate-buffered saline; PRA; plasma renin acti
Keywords: آتروفی اپتیکی; Adenoid hypertrophy; Palatine tonsil; Sleep apnea syndromes; Optic atrophy; Retinal nerve fiber layer;
Keywords: آتروفی اپتیکی; Optical coherence tomography; Optic nerve imaging; Macular imaging; Macular volume; Circumpapillary retinal nerve fiber analysis; Retinal nerve fiber bundle defect; Ganglion cell layer; Optic nerve swelling; Optic atrophy;
Keywords: آتروفی اپتیکی; CYP11A1; cytochrome P450, family 11, subfamily A, polypeptide 1; PKA; cyclic-AMP-dependent protein kinase; ACTH; adrenocorticotropin hormone; LH; luteinizing hormone; IMM; inner mitochondrial membrane; P5; pregnenolone; ER; the endoplasmic reticulum; OMM;
Keywords: آتروفی اپتیکی; PEHO; encephalopathy; whole-exome sequencing; optic atrophy; neurodevelopmental disorder
Childhood hearing loss is a key feature of CAPOS syndrome: A case report
Keywords: آتروفی اپتیکی; CAPOS; Hearing loss; Auditory neuropathy; Optic atrophy; Ataxia; Areflexia;
Further characterization of CAPOS/CAOS syndrome with the Glu818Lys mutation in the ATP1A3 gene: A case report
Keywords: آتروفی اپتیکی; ATP1A3; Alternating hemiplegia of childhood; Relapsing encephalopathy; CAPOS syndrome; Optic atrophy; Ophthalmoplegia; Chorea;
Clinical ObservationsEarly Diagnosis of CAPOS Syndrome Before Acute-Onset Ataxia-Review of the Literature and a New Family
Keywords: آتروفی اپتیکی; CAPOS syndrome; ATP1A3 gene; cerebellar ataxia; sensorineural hearing loss; optic atrophy;
Atypical Tolosa Hunt syndrome with bilateral sclerokeratitis and optic atrophy in Takayasu's arteritis
Keywords: آتروفی اپتیکی; Takayasu's arteritis; Tolosa Hunt syndrome; Sclerokeratitis; Optic atrophy;
Research PaperAge-related accumulation of phosphorylated mitofusin 2 protein in retinal ganglion cells correlates with glaucoma progression
Keywords: آتروفی اپتیکی; CMT; Charcot-Marie-Tooth; DBA; DBA/2J; DOA; dominant optic atrophy; D2G; DBA/2JGpnmb +;  IOP; intraocular pressure; Mfn1; mitofusin 1; Mfn2; mitofusin 2; NICIF; nanoimmuno capillary isoelectric focusing; NP; NanoPro; ON; optic nerve; Opa1; optic atrophy
Sequential NAION presenting as pseudo Foster Kennedy syndrome
Keywords: آتروفی اپتیکی; Ischemic optic neuropathy; Bilateral NAION; Pseudo-Foster Kennedy syndrome; Optic atrophy;
The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene
Keywords: آتروفی اپتیکی; CAPOS syndrome; ATP1A3 gene; cerebellar ataxia; areflexia; pes cavus; optic atrophy; sensorineural hearing loss;
Clinical and allelic heterogeneity in a pediatric cohort of 11 patients carrying MFN2 mutation
Keywords: آتروفی اپتیکی; Charcot–Marie–Tooth (CMT); Mitofusin 2 (MFN2); Neuropathy; Optic atrophy; White matter lesion; Subacute polyneuropathy; Respiratory chain deficiency
Diabetes mellitus, diabetes insipidus, optic atrophy, and deafness: A case of Wolfram (DIDMOAD) syndrome
Keywords: آتروفی اپتیکی; Diabetes mellitus; Diabetes insipidus; Optic atrophy; Deafness
Optic neuropathy in a case of recurrent idiopathic hypertrophic pachymeningitis unresponsive to steroids and immunosuppressants
Keywords: آتروفی اپتیکی; Idiopathic hypertrophic pachymeningitis; Optic neuropathy; Optic atrophy; Steroids; ImmunosuppressantsPaquimeningitis hipertrófica idiopática; Neuropatía óptica; Atrofia óptica; Corticoides; Inmunosupresores
NeuropatÃa óptica en un caso de paquimeningitis hipertrófica idiopática recurrente sin respuesta a esteroides e inmunosupresores
Keywords: آتروفی اپتیکی; Paquimeningitis hipertrófica idiopática; NeuropatÃa óptica; Atrofia óptica; Corticoides; Inmunosupresores; Idiopathic hypertrophic pachymeningitis; Optic neuropathy; Optic atrophy; Steroids; Immunosuppressants;
Mitochondrial Ca2+ uptake correlates with the severity of the symptoms in autosomal dominant optic atrophy
Keywords: آتروفی اپتیکی; Optic atrophy; Fibroblast; OPA1; Calcium ion; Mitochondria; Apoptosis; Ganglion cell;
TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane
Keywords: آتروفی اپتیکی; 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;
The optic nerve: A “mito-window” on mitochondrial neurodegeneration
Keywords: آتروفی اپتیکی; Mitochondrial disease; Optic atrophy; Mitochondrial functions; LHON; DOA; Retinal ganglion cells;
Pontocerebellar hypoplasia type 3 with tetralogy of Fallot
Keywords: آتروفی اپتیکی; Optic atrophy; Pontocerebellar hypoplasia; Tetralogy of Fallot
Le syndrome de Wolfram : mise au point clinique et génétique à propos du cas de deux sÅurs
Keywords: آتروفی اپتیکی; Syndrome de Wolfram; Atrophie optique; Diabète; Gène WFS1; Wolfram syndrome; Optic atrophy; Diabetes mellitus; WFS1 gene;
Leber hereditary optic neuropathy – Therapeutic challenges and early promise
Keywords: آتروفی اپتیکی; gene therapy; idebenone; Leber hereditary optic neuropathy; LHON; mitochondrial DNA; optic atrophy
Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations
Keywords: آتروفی اپتیکی; Optic atrophy; Semi-dominant inheritance; Mitochondrial dysfunction; Neurological disease; Compound heterozygosity
Mouse models of dominant optic atrophy: What do they tell us about the pathophysiology of visual loss?
Keywords: آتروفی اپتیکی; Opa1; Optic atrophy; Optic nerve; Retinal ganglion cell; Mitochondrion
Specific deficits in visual electrophysiology in a mouse model of dominant optic atrophy
Keywords: آتروفی اپتیکی; optic atrophy; Opa1; retina; ganglion cell; ERG; VEP; electrophysiology
Mitochondrial DNA abnormalities in ophthalmological disease
Keywords: آتروفی اپتیکی; mtDNA; Mitochondrial disease; Progressive external ophthalmoplegia; Optic atrophy; LHON; Retinopathy; Extraocular muscle
OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria
Keywords: آتروفی اپتیکی; Optic atrophy; OPA3; 3-Methylglutaconic acid; Mitochondrion; Peroxisome; Green fluorescent protein; Sorting signal
Vision impairment in tuberculous meningitis: Predictors and prognosis
Keywords: آتروفی اپتیکی; Pulmonary tuberculosis; Tuberculous meningitis; Cerebral tuberculoma; Vision loss; Optic atrophy; Optochiasmatic arachnoiditis
Nonglaucomatous Optic Atrophy
Keywords: آتروفی اپتیکی; Optic atrophy; Optic disc; Optic neuropathy; Pallor;
Visual evoked potentials in idiopathic intracranial hypertension
Keywords: آتروفی اپتیکی; Idiopathic intracranial hypertension; Pseudotumor cerebri; Optic atrophy; Visual evoked potentials; VEP
Enlargement of internal carotid artery aneurysm presenting with severe visual sequela: A case report and anatomy review
Keywords: آتروفی اپتیکی; Intracranial aneurysm; Carotid artery, internal; Optic atrophy; Vision disorders;
Pervasive ocular anomalies in posterior microphthalmos
Keywords: آتروفی اپتیکی; Amblyopia; Esotropia; Hyperopia; Optic nerve hypoplasia; Macular fold; Microphthalmos; Optical coherence tomography; Optic atrophy; Optic nerve head
Optic atrophy after sildenafil use
Keywords: آتروفی اپتیکی; Optic atrophy; Optic neuropathy; Nonarteritic anterior ischemic optic neuropathy; Sildenafil; Erectile-enhancing medications; Phosphodiesterase inhibitor
Structural model of the OPA1 GTPase domain may explain the molecular consequences of a novel mutation in a family with autosomal dominant optic atrophy
Keywords: آتروفی اپتیکی; optic atrophy; OPA1; homology modeling; dynamin A
The dynamin-related mouse mitochondrial GTPase OPA1 alters the structure of the mitochondrial inner membrane when exogenously introduced into COS-7 cells
Keywords: آتروفی اپتیکی; Mitochondria; Morphology; Fission; G protein; Dynamin; Optic atrophy
Atrophie optique, cataracte et signes extra-pyramidaux par mutation du gène OPA3
Keywords: آتروفی اپتیکی; Atrophie optique; Cataracte; Syndrome extrapyramidal; Autosomique dominant; OPA3; Optic atrophy; Cataract; Extrapyramidal syndrome; Autosomal dominant OPA3;
Low vision and blindness in children with multiple handicaps
Keywords: آتروفی اپتیکی; Blindness; Multiple disability; Low vision; Optic atrophy; Visual cortical impairment;
Msp1p is an intermembrane space dynamin-related protein that mediates mitochondrial fusion in a Dnm1p-dependent manner in S. pombe
Keywords: آتروفی اپتیکی; MA; matrix; IMS; intermembrane space; IM; inner membrane; OM; outer membrane; Mito-GFP; mitochondrial-targeted green fluorescent protein; mtDNA; mitochondrial DNA; DAPI; 4â²,6â²-diamino-2-phenylindole; CAT; chloroamphenicol-acetyl-transferase; TEV; toba
Tuberculum sellae meningioma associated with lymphomatoid papulosis
Keywords: آتروفی اپتیکی; Lymphomatoid papulosis; meningioma; optic atrophy; optic nerve decompression; skin tumors; tuberculum sellae meningioma; visual loss;