×
Entrez Id:
4854
Gene Symbol:
NOTCH3
NOTCH3
0.800
CausalMutation
disease
CLINVAR
Evaluation of NOTCH3 Pro167Ser Variation in a Japanese Family with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.
27350778
2016
×
Entrez Id:
4854
Gene Symbol:
NOTCH3
NOTCH3
0.800
CausalMutation
disease
CLINVAR
NOTCH3 variants in patients with subcortical vascular cognitive impairment: a comparison with typical CADASIL patients.
26002683
2015
×
Entrez Id:
4854
Gene Symbol:
NOTCH3
NOTCH3
0.800
CausalMutation
disease
CLINVAR
Genotypic and phenotypic spectrum of CADASIL in Japan: the experience at a referral center in Kumamoto University from 1997 to 2014.
25980907
2015
×
Entrez Id:
4854
Gene Symbol:
NOTCH3
NOTCH3
0.800
CausalMutation
disease
CLINVAR
CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients.
25344745
2015
×
Entrez Id:
4854
Gene Symbol:
NOTCH3
NOTCH3
0.800
CausalMutation
disease
CLINVAR
Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles.
26308724
2015
×
Entrez Id:
4854
Gene Symbol:
NOTCH3
NOTCH3
0.800
CausalMutation
disease
CLINVAR
Headache among CADASIL patients with R544C mutation: prevalence, characteristics, and associations.
23847153
2014
×
Entrez Id:
4854
Gene Symbol:
NOTCH3
NOTCH3
0.800
CausalMutation
disease
CLINVAR
Case report: bipolar disorder as the first manifestation of CADASIL.
24929957
2014
×
Entrez Id:
4854
Gene Symbol:
NOTCH3
NOTCH3
0.800
Biomarker
disease
GENOMICS_ENGLAND
A practical approach to diagnosing adult onset leukodystrophies.
24357685
2014
×
Entrez Id:
4854
Gene Symbol:
NOTCH3
NOTCH3
0.800
CausalMutation
disease
CLINVAR
Spectrum of NOTCH3 mutations in Korean patients with clinically suspicious cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
24139282
2014
×
Entrez Id:
4854
Gene Symbol:
NOTCH3
NOTCH3
0.800
GeneticVariation
disease
UNIPROT
Hypomorphic NOTCH3 alleles do not cause CADASIL in humans.
24000151
2013
×
Entrez Id:
4854
Gene Symbol:
NOTCH3
NOTCH3
0.800
CausalMutation
disease
CLINVAR
A homozygous NOTCH3 mutation p.R544C and a heterozygous TREX1 variant p.C99MfsX3 in a family with hereditary small vessel disease of the brain.
23602593
2013
×
Entrez Id:
4854
Gene Symbol:
NOTCH3
NOTCH3
0.800
CausalMutation
disease
CLINVAR
Diversity of stroke presentation in CADASIL: study from patients harboring the predominant NOTCH3 mutation R544C.
21852154
2013
×
Entrez Id:
4854
Gene Symbol:
NOTCH3
NOTCH3
0.800
CausalMutation
disease
CLINVAR
Abnormal recruitment of extracellular matrix proteins by excess Notch3 ECD: a new pathomechanism in CADASIL.
23649698
2013
×
Entrez Id:
4854
Gene Symbol:
NOTCH3
NOTCH3
0.800
CausalMutation
disease
CLINVAR
Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
22664156
2012
×
Entrez Id:
4854
Gene Symbol:
NOTCH3
NOTCH3
0.800
CausalMutation
disease
CLINVAR
Amyotrophic lateral sclerosis and frontotemporal lobar degeneration in association with CADASIL.
22367839
2012
×
Entrez Id:
4854
Gene Symbol:
NOTCH3
NOTCH3
0.800
CausalMutation
disease
CLINVAR
NOTCH3 mutations and clinical features in 33 mainland Chinese families with CADASIL.
20935329
2011
×
Entrez Id:
4854
Gene Symbol:
NOTCH3
NOTCH3
0.800
Biomarker
disease
MGD
Notch3 Arg170Cys knock-in mice display pathologic and clinical features of the neurovascular disorder cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
21940951
2011
×
Entrez Id:
4854
Gene Symbol:
NOTCH3
NOTCH3
0.800
CausalMutation
disease
CLINVAR
The remarkably variable expressivity of CADASIL: report of a minimally symptomatic man at an advanced age.
19252787
2009
×
Entrez Id:
4854
Gene Symbol:
NOTCH3
NOTCH3
0.800
GeneticVariation
disease
CLINVAR
Acute confusional migraine may be a presenting feature of CADASIL.
19245392
2009
×
Entrez Id:
4854
Gene Symbol:
NOTCH3
NOTCH3
0.800
CausalMutation
disease
CLINVAR
Population-specific spectrum of NOTCH3 mutations, MRI features and founder effect of CADASIL in Chinese.
19242647
2009
×
Entrez Id:
4854
Gene Symbol:
NOTCH3
NOTCH3
0.800
Biomarker
disease
GENOMICS_ENGLAND
Cysteine-sparing notch3 mutations: cadasil or cadasil variants?
19528524
2009
×
Entrez Id:
4854
Gene Symbol:
NOTCH3
NOTCH3
0.800
CausalMutation
disease
CLINVAR
Characteristics of CADASIL in Korea: a novel cysteine-sparing Notch3 mutation.
16717210
2006
×
Entrez Id:
4854
Gene Symbol:
NOTCH3
NOTCH3
0.800
GeneticVariation
disease
UNIPROT
Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
15818833
2005
×
Entrez Id:
4854
Gene Symbol:
NOTCH3
NOTCH3
0.800
GeneticVariation
disease
UNIPROT
Spectrum of mutations in biopsy-proven CADASIL: implications for diagnostic strategies.
16009764
2005
×
Entrez Id:
4854
Gene Symbol:
NOTCH3
NOTCH3
0.800
GeneticVariation
disease
UNIPROT
The influence of genetic and cardiovascular risk factors on the CADASIL phenotype.
15229130
2004