Keywords: ANK; ankyrin; CADASIL; cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CSL; CBF1, Suppressor of Hairless Lag 1; CHYS1; chondroitin sulfate synthase; Dll; Delta-like; EGF; epidermal growth factor; EOGT; EGF domai
مقالات ISI (ترجمه نشده)
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Keywords: CADASIL; NOTCH3; diagnostic criteria; genetic testing;
Keywords: AD; Alzheimer's disease; APP; Aβ precursor protein; CAA; cerebral amyloid angiopathy; CADASIL; cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASIL; cerebral autosomal recessive arteriopathy with subcortic
Keywords: Cadasil; Notch3; Matrice extracellulare vascolare; Lacuna; Leucoaraiosi; Leucoencefalopatia; AVC; Ereditarietà ; Demenza vascolare;
Keywords: amyloid angiopathy; CADASIL; haemorrhage; infarction; ischaemia; post-mortem; small vessel disease
Keywords: Demenza vascolare; Disturbi cognitivi vascolari maggiori; Angiopatia amiloide cerebrale; CADASIL; Neuropsicologia;
Keywords: gLE; genetic leukoencephalopathy; CNS; central nervous system; MRI; magnetic resonance imaging; MSUD; Maple Syrup Urine Disease; ClC-2; Chloride Ion Channel 2; MLC; Megalencephalic Leukoencephalopathy with subcortical cysts; X-ALD; X-linked Adrenoleukodys
Keywords: Genetic counseling; Predictive genetic testing; Presymptomatic testing protocol; Huntington disease; Alzheimer disease; Frontotemporal degeneration; CADASIL; Prion disease;
Keywords: Microbleeds; gradient echo T2*; cerebral amyloid angiopathy; endocarditis; CADASIL; COL4a1;
Keywords: Vascular dementia; MR imaging; Subcortical vascular dementia; CADASIL; Cerebral amyloid angiopathy (CAA);
Keywords: ACE; angiotensin I converting enzyme; AGT; angiotensinogen; APOE; apolipoprotein E; APP; amyloid beta (A4) precursor protein; AR; androgen receptor; CADASIL; cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy; CST
Keywords: Stroke; CADASIL; tPA; genetic; complications
CADASIL
Keywords: CADASIL; LeucoencefalopatÃa; ArteriopatÃa; Gen Notch 3; Infarto lacunar; Demencia;
Multiple sclerosis or “inflammatory CADASIL?”: Case Report and review of the literature
Keywords: Multiple sclerosis; Dementia; CADASIL; Oligoclonal bands;
Recognition of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) in Two Oligosymptomatic Sisters with Low CADASIL Scale Scores and a Venous Dysplasia: Report of a Novel Greek Family
Keywords: Subcortical vascular disease; vascular dementia; stroke; CADASIL; CADASIL scale; NOTCH3;
Genetic diagnosis of CADASIL in three Hong Kong Chinese patients: A novel mutation within the intracellular domain of NOTCH3
Keywords: Adult onset hereditary stroke; CADASIL; Cerebral autosomal dominant arteriopathy with subcortical infarcts and Leukoencephalopathy; Hong Kong Chinese; NOTCH3 mutations;
Notch3 protein expression in skin fibroblasts from CADASIL patients
Keywords: Notch3 protein; CADASIL; NOTCH3 gene; Fibroblasts;
Smooth muscle cell-driven vascular diseases and molecular mechanisms of VSMC plasticity
Keywords: Vascular smooth muscle; Vasoproliferative disease; Vascular smooth muscle cell; Phenotype switching; Signalling pathways; AJ; adherens junction; ApoE; apolipoprotein E; BMP; bone morphogenetic protein; CAD; coronary artery diseases; CADASIL; cerebral auto
First Report of Arg587Cys Mutation of Notch3 Gene in Two Chinese Families with CADASIL
Keywords: CADASIL; mutations; Notch3 gene; stroke;
Hemorragia cerebral en CADASIL
Keywords: CADASIL; Hemorragia cerebral; Microsangrados cerebrales; CADASIL; Intracerebral hemorrhage; Microbleeds;
Original contribution7Â Tesla MRA for the differentiation between intracranial aneurysms and infundibula
Keywords: SAH; subarachnoid hemorrhage; CADASIL; cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; Intracranial aneurysms; Infundibula; High resolution MRA; 7Â Tesla; Time-of-flight MRA;
Novel heterozygous NOTCH3 pathogenic variant found in two Chinese patients with CADASIL
Keywords: NOTCH3; CADASIL; Whole genome sequencing; Mutation;
Serum amyloid P component: A novel potential player in vessel degeneration in CADASIL
Keywords: BSA; bovine serum albumin; CAA; cerebral amyloid angiopathy; CADASIL; cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CPHPC; (R)-1-[6-[(R)-2-carboxy-pyrrolidin-1-yl]-6-oxo-hexanoyl]pyrrolidine-2-carboxylic acid;
Circulating Biomarkers in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Patients
Keywords: CADASIL; circulating progenitor cells; cerebral small vessel disease; endothelial impairment; von Willebrand factor;
Genotype-phenotype correlations of cysteine replacement in CADASIL
Keywords: CADASIL; NOTCH3; Hereditary leukoaraiosis; Genetics;
CADASIL as a Useful Medical Model and Genetic Form of Vascular Depression
Keywords: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CADASIL; white matter hyperintensities; lacunes; cerebral microbleeds; vascular depression;
Phenotypic comparison of individuals with homozygous or heterozygous mutation of NOTCH3 in a large CADASIL family
Keywords: CADASIL; NOTCH3; Homozygous; Heterozygous; Mutation; Stroke;
Research ReportBlood biomarkers in a mouse model of CADASIL
Keywords: SVD; small-vessel disease; CADASIL; cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; VSMC; vascular smooth muscle cells; IGFBP-1; Insulin-like growth factor-binding protein-1; SDF-1; stromal cell-derived factor-1
The first report of CADASIL in Peru: Olfactory dysfunction on initial presentation
Keywords: CADASIL; Stroke; Olfactory dysfunction; Olfaction; MRI; NOTCH3; Peru; South America;
Cholinergic circuitry functioning in patients with vascular cognitive impairment - no dementia
Keywords: A ratio; motor evoked potential amplitude ratio; AD; Alzheimer's disease; ADL; Activity of Daily Living; AS; Apathy Scale; CADASIL; cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CMAP; compound motor action pot
Intracranial arterial disease in CADASIL patients
Keywords: CADASIL; Intracranial artery disease; Infarction;
New mutations in the Notch3 gene in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL)
Keywords: CADASIL; White matter lesions; NOTCH3 gene; Mutations; Phenotypic heterogeneity; Russian population;
Hypomorphic NOTCH3 mutation in an Italian family with CADASIL features
Keywords: CADASIL; NOTCH3; Stroke; Dementia; Genetic;
The genetic spectrum and the evaluation of CADASIL screening scale in Chinese patients with NOTCH3 mutations
Keywords: CADASIL; CADASIL scale; NOTCH3 gene; Novel mutation; Mainland China
NOTCH3 variants in patients with subcortical vascular cognitive impairment: a comparison with typical CADASIL patients
Keywords: CADASIL; NOTCH3; Subcortical vascular cognitive impairment (SVCI);
Mouse model of CADASIL reveals novel insights into Notch3 function in adult hippocampal neurogenesis
Keywords: BrdU; bromodeoxyuridine; CADASIL; cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; E; embryonic day; DG; dentate gyrus; DCX; doublecortin; GFAP; glial fibrillaric acid protein; GOM; granular osmiophilic material;
Stem cell factor and granulocyte colony-stimulating factor exhibit therapeutic effects in a mouse model of CADASIL
Keywords: CADASIL; cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalophy; SCF; stem cell factor; G-CSF; granulocyte colony-stimulating factor; CAA; cerebral amyloid angiopathy; SVZ; the subventricular zone; BrdU; bromodeoxyuridine
Latent NOTCH3 epitopes unmasked in CADASIL and regulated by protein redox state
Keywords: CADASIL; Small vessel disease; Leptomeningeal; Redox state; NOTCH3
Inherited leukoencephalopathies with clinical onset in middle and old age
Keywords: ADLD; Adult onset autosomal dominant leukodystrophy; CADASIL; Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; CARASIL; Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy;
A homozygous NOTCH3 mutation p.R544C and a heterozygous TREX1 variant p.C99MfsX3 in a family with hereditary small vessel disease of the brain
Keywords: CADASIL; homozygous NOTCH3 mutation; NOTCH3; RCVL; TREX1
Leucoencéphalopathies vasculaires chez des patients sans facteur de risque vasculaire ni mutation de NOTCH3Â : description clinique et radiologique
Keywords: Leucoencéphalopathie vasculaire; NOTCH3; CADASIL; Microangiopathie cérébrale; Vascular leukoencephalopathy; NOTCH3; CADASIL; Cerebral microangiopathy; Small vessel disease of the brain;
Diversity of Stroke Presentation in CADASIL: Study from Patients Harboring the Predominant NOTCH3 Mutation R544C
Keywords: CADASIL; stroke; NOTCH3
Cerebral hemorrhages in CADASIL: Report of four cases and a brief review
Keywords: CADASIL; Cerebral hemorrhage; Subarachnoid hemorrhage; Stroke; NOTCH3; Antiplatelet; Hypertension
Education modifies the relation of vascular pathology to cognitive function: cognitive reserve in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Keywords: Vascular cognitive impairment; Cognitive reserve; CADASIL; Lacunar infarction; Education
Visual System Involvement in CADASIL
Keywords: CADASIL; neuro-ophthalmology; small-vessel disease; retinal vessels
Experimental studies of mitochondrial function in CADASIL vascular smooth muscle cells
Keywords: CADASIL; Proliferation; VSMC; Mitochondrial membrane potential; Mitochondrial connectivity; NOTCH3.
Hereditary diffuse leukoencephalopathy with axonal spheroids caused by R782H mutation in CSF1R: Case report
Keywords: Dementia; Leukoencephalopathy; CADASIL; Neuroaxonal spheroids; Colony stimulating factor 1 receptor;
Multi-organ investigation in 16 CADASIL families from central Italy sharing the same R1006C mutation
Keywords: CADASIL; Vascular dementia; Stroke; Myopathy; Multi-systemic disease;
Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
Keywords: CADASIL; NOTCH3 mutations; NOTCH3 haplotypes; Founder effect; ASPE
Hereditary cerebral small vessel diseases: A review
Keywords: Small vessels; CADASIL; CARASIL; Hereditary stroke;