|
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 |
|
Cerebrovascular accident
|
|
0.030 |
GeneticVariation
|
BEFREE |
p.R544C <i>NOTCH3</i> mutation is underdiagnosed in stroke patients in Taiwan, especially in those with small vessel occlusion and sibling history of stroke.
|
30656190 |
2019 |
|
CADASIL Syndrome
|
|
0.030 |
GeneticVariation
|
BEFREE |
This is a cohort study of patients who were diagnosed with genotype-confirmed R544C-mutation CADASIL.
|
25692567 |
2015 |
|
Cerebrovascular accident
|
|
0.030 |
GeneticVariation
|
BEFREE |
Diversity of stroke presentation in CADASIL: study from patients harboring the predominant NOTCH3 mutation R544C.
|
21852154 |
2013 |
|
Impaired cognition
|
|
0.020 |
GeneticVariation
|
BEFREE |
Subgroup analyses revealed that the R544C mutation is associated with lower frequency of anterior temporal involvement, later age at onset and higher frequency of cognitive dysfunction.
|
26308724 |
2015 |
|
Impaired cognition
|
|
0.020 |
GeneticVariation
|
BEFREE |
Non-Caucasian CADASIL patients with R544C mutation and Caucasian CADASIL patients show similar patterns of cognitive impairment.
|
24480794 |
2014 |
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Spectrum of NOTCH3 mutations in Korean patients with clinically suspicious cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
|
24139282 |
2014 |
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
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 |
CausalMutation
|
CLINVAR |
The remarkably variable expressivity of CADASIL: report of a minimally symptomatic man at an advanced age.
|
19252787 |
2009 |
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
CausalMutation
|
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 |
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles.
|
26308724 |
2015 |
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Diversity of stroke presentation in CADASIL: study from patients harboring the predominant NOTCH3 mutation R544C.
|
21852154 |
2013 |
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Headache among CADASIL patients with R544C mutation: prevalence, characteristics, and associations.
|
23847153 |
2014 |
|
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
Population-specific spectrum of NOTCH3 mutations, MRI features and founder effect of CADASIL in Chinese.
|
19242647 |
2009 |
|
LATERAL MENINGOCELE SYNDROME
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
MYOFIBROMATOSIS, INFANTILE, 2
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
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 |