|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association.
|
25355838 |
2014 |
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
|
15818833 |
2005 |
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Gene symbol: NOTCH3. Disease: CADASIL.
|
15300988 |
2004 |
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Detection of the founder effect in Finnish CADASIL families.
|
15378071 |
2004 |
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.
|
20298421 |
2010 |
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group.
|
10371548 |
1999 |
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mutation (C67Y)in the NOTCH3 gene in a Korean CADASIL patient.
|
12589106 |
2003 |
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genetic, clinical and pathological studies of CADASIL in Japan: a partial contribution of Notch3 mutations and implications of smooth muscle cell degeneration for the pathogenesis.
|
12810003 |
2003 |
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke.
|
12136071 |
2002 |
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL.
|
10802807 |
2000 |
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Reversible coma with raised intracranial pressure: an unusual clinical manifestation of CADASIL.
|
11810186 |
2002 |
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3 EGF-like repeat domains.
|
10854111 |
2000 |
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
CADASIL-associated Notch3 mutations have differential effects both on ligand binding and ligand-induced Notch3 receptor signaling through RBP-Jk.
|
15350543 |
2004 |
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of a novel mutation C144F in the Notch3 gene in an Australian CADASIL pedigree.
|
11058919 |
2000 |
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Quantitative MRI in CADASIL: correlation with disability and cognitive performance.
|
10227618 |
1999 |
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
CADASIL: a common form of hereditary arteriopathy causing brain infarcts and dementia.
|
12146805 |
2002 |
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G-C content.
|
11102981 |
2000 |
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients.
|
9388399 |
1997 |
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Spectrum of mutations in biopsy-proven CADASIL: implications for diagnostic strategies.
|
16009764 |
2005 |
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients.
|
15364702 |
2004 |
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mutation in the Notch3 gene in an Italian family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: genetic and magnetic resonance spectroscopic findings.
|
11559313 |
2001 |
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Hypomorphic NOTCH3 alleles do not cause CADASIL in humans.
|
24000151 |
2013 |
|
CADASIL Syndrome
|
|
0.030 |
GeneticVariation
|
BEFREE |
Homozygosity of the NOTCH3 p.R544C has a modestly deleterious effect on the CADASIL phenotype.
|
23602593 |
2013 |
|
CADASIL Syndrome
|
|
0.030 |
GeneticVariation
|
BEFREE |
Diversity of stroke presentation in CADASIL: study from patients harboring the predominant NOTCH3 mutation R544C.
|
21852154 |
2013 |
|
Cerebrovascular accident
|
|
0.030 |
GeneticVariation
|
BEFREE |
The purpose of this study is to assess whether CMBs are associated with symptomatic stroke in the CADASIL patients with R544C mutation and to compare the cerebral distribution of CMBs between CADASIL patients with and without symptomatic stroke.
|
25692567 |
2015 |