Keywords: سندرم ولفرام; Wolfram syndrome; Bladder dysfunction; Urodynamics; Diabetes mellitus; Diabetes insipidis; Megacystis;
مقالات ISI سندرم ولفرام (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 ولفرام; 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 ولفرام; 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: سندرم ولفرام; 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: سندرم ولفرام; Wolfram Syndrome; Leber hereditary optic neuropathy; Optic nerve; Retinal ganglion cell; Axonal degeneration; Myelin basic protein;
Keywords: سندرم ولفرام; Hereditary optic neuropathies; Dominant optic atrophy; Wolfram syndrome; Diabetes mellitus; Deafness
Hippocampus and Hypothalamus RNA-sequencing of WFS1-deficient Mice
Keywords: سندرم ولفرام; AVP; arginine vasopressin; Avpr1a; arginine vasopressin receptor subtype V1a gene in mouse; Avpr1b; vasopressin receptor subtype V1b gene in mouse; ER; endoplasmic reticulum; FDR; False Discovery Rate; LogFC; Log2 Fold Change; PVH; paraventricular nucleus
A nonsynonymous mutation in the WFS1 gene in a Finnish family with age-related hearing impairment
Keywords: سندرم ولفرام; Age-related hearing impairment; Presbyacusis; Wolfram syndrome; High-frequency hearing impairment; ARHI; age-related hearing impairment; BEHL; better ear hearing level; HI; hearing impairment; WFS1; Wolfram Syndrome 1; WS; Wolfram syndrome; LFSNHI; low-fr
Genetics of Diabetes Insipidus
Keywords: سندرم ولفرام; Familial neurohypophyseal diabetes insipidus; Familial nephrogenic diabetes insipidus; Arginine vasopressin; Arginine vasopressin receptor type 2; Aquaporin 2; Wolfram syndrome;
c.376G>A mutation in WFS1 gene causes Wolfram syndrome without deafness
Keywords: سندرم ولفرام; Wolfram syndrome; WFS1; Psychiatric illness; Mutation
Identification of a novel WFS1 homozygous nonsense mutation in Jordanian children with Wolfram syndrome
Keywords: سندرم ولفرام; Wolfram syndrome; Wolframin; WFS1; Novel mutation; Compound heterozygosity;
Genetic forms of neurohypophyseal diabetes insipidus
Keywords: سندرم ولفرام; diabetes insipidus; AVP gene; neurogenic; arginine vasopressin; neurophysin; mutation; endoplasmic reticulum; Wolfram syndrome
Deletion of the Wolfram syndrome-related gene Wfs1 results in increased sensitivity to ethanol in female mice
Keywords: سندرم ولفرام; Ethanol; Elevated plus-maze; Loss of righting reflex; Gene expression; GABAA receptor; Wfs1-deficient mice; WS; Wolfram syndrome; GABA; gamma-aminobutyric acid; LORR; loss of righting reflex; NMDA; N-methyl-D-aspartate; qRT-PCR; quantitative real-time PCR
Tunicamycin-induced unfolded protein response in the developing mouse brain
Keywords: سندرم ولفرام; AD; Alzheimer's disease; ALS; amyotrophic lateral sclerosis; CGNs; cerebellar granule neurons; DAB; 3,3â²-diaminobenzidine; DAPI; 4,6-diamidino-phenylindole; DCN; deep cerebellar nucleus; DG; dentate gyrus; DIV; days in vitro; EGL; external germinal laye
Troubles vésicosphinctériens au cours du syndrome de Wolfram
Keywords: سندرم ولفرام; Syndrome de Wolfram; Miction; Rétention urinaire; Incontinence urinaire; Qualité de vie; Wolfram syndrome; Micturition; Urinary retention; Urinary incontinence; Quality of life;
Le syndrome de Wolfram : une maladie « orpheline » que les diabétologues ne peuvent pas ignorer
Keywords: سندرم ولفرام; syndrome de Wolfram; DIDMOAD; stress du réticulum endoplasmique; réponse UPR; diabète; Wolfram syndrome; DIDMOAD; Endoplasmic Reticulum stress; Unfolded Protein Response (UPR); diabetes mellitus;
Les neuropathies optiques héréditaires : du signe clinique au diagnostic
Keywords: سندرم ولفرام; Atrophie optique dominante; Neuropathie optique de Leber; OPA1; ADN mitochondrial; Syndrome de Wolfram; Télangiectasies papillaires; Dominant optic atrophy; Leber's optic atrophy; OPA1; Mitochondrial DNA; Wolfram syndrome; Optic nerve head telangiectasia
Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro)
Keywords: سندرم ولفرام; Autosomal recessive; Hearing impairment; Inbred; Missense; Mutation; Renal failure; WFS1; Wolfram syndrome
Balance impairment in individuals with Wolfram syndrome
Keywords: سندرم ولفرام; Wolfram syndrome; Balance; Neurodevelopment; Pediatric rehabilitation; Clinical scale;
Le syndrome de Wolfram : mise au point clinique et génétique à propos du cas de deux sÅurs
Keywords: سندرم ولفرام; Syndrome de Wolfram; Atrophie optique; Diabète; Gène WFS1; Wolfram syndrome; Optic atrophy; Diabetes mellitus; WFS1 gene;
The mitochondrial ND1 m.3337G>A mutation associated to multiple mitochondrial DNA deletions in a patient with Wolfram syndrome and cardiomyopathy
Keywords: سندرم ولفرام; Wolfram syndrome; Mitochondrial deletion; m.3337G>A; Mitochondrial mutations; Skeletal muscle;
Wfs1-deficient mice display impaired behavioural adaptation in stressful environment
Keywords: سندرم ولفرام; Wfs1; Wolfram syndrome; Transgenic mice; Homologous recombination; Stress; Corticosterone; Anxiety; Behavioural adaptation; Stress-induced analgesia; Motility box; Amphetamine; Apomorphine; Mesolimbic system; Dopamine; Exploratory behaviour; Diazepam; Rot
Wolfram syndrome 1 (WFS1) protein expression in retinal ganglion cells and optic nerve glia of the cynomolgus monkey
Keywords: سندرم ولفرام; retina; degeneration; Wolfram syndrome; immunohistochemistry
Wolfram syndrome-associated mutations lead to instability and proteasomal degradation of wolframin
Keywords: سندرم ولفرام; Wolfram syndrome; WFS1; Wolframin; Mutation; Endoplasmic reticulum
The characterisation of the human Wolfram syndrome gene promoter demonstrating regulation by Sp1 and Sp3 transcription factors
Keywords: سندرم ولفرام; WFS1; Wolfram syndrome; Minimal promoter; Sp1; Sp3; CCAAT; ERSE;
Identification of a novel WFS1 mutation (AFF344-345ins) in Japanese patients with Wolfram syndrome
Keywords: سندرم ولفرام; Wolfram syndrome; Hypopituitarism; WFS1;