|
Arteriopathic disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Features of cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy <b>(</b> CADASIL) caused by <i>NOTCH3</i> mutations vary between ethnicities and regions.
|
30656190 |
2019 |
|
Arteriopathic disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary arteriopathy associated with the NOTCH3 gene.
|
31146726 |
2019 |
|
Arteriopathic disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy.
|
25870235 |
2015 |
|
Arteriopathic disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Two novel mutations in NOTCH3 gene causes cerebral autosomal dominant arteriopathy with subcritical infarct and leucoencephalopathy in two Chinese families.
|
25973016 |
2015 |
|
Arteriopathic disease
|
0.100 |
Biomarker
|
group |
BEFREE |
To appreciate the pathogenic potential of damaged small blood vessels in the brain, it is useful to consider the clinical course and the pathogenesis of CADASIL, a heritable arteriopathy that leads to damaged small blood vessels and irreversible dementia.
|
24378989 |
2014 |
|
Arteriopathic disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
These neurological symptoms may also be due to DST gene mutation, although he has a concomitant diagnosis of CADASIL (cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy), a cerebral small-vessel arteriopathy, which thus complicates the genotype-phenotype interpretation.
|
20164846 |
2010 |
|
Arteriopathic disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
This cerebral autosomal dominant arteriopathy with pontine infarcts and leukoencephalopathy is characterized by a special lesion pattern strikingly different from CADASIL.
|
19187480 |
2010 |
|
Arteriopathic disease
|
0.100 |
Biomarker
|
group |
BEFREE |
CADASIL is a hereditary arteriopathy causing recurrent strokes and cognitive decline.
|
19372454 |
2009 |
|
Arteriopathic disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
CADASIL is an autosomal dominant arteriopathy characterised by diffuse white matter lesions and small subcortical infarcts on neuroimaging and a variable combination of recurrent cerebral ischaemic episodes, cognitive deficits, migraine with aura and psychiatric symptoms.
|
17690848 |
2007 |
|
Arteriopathic disease
|
0.100 |
Biomarker
|
group |
BEFREE |
Our results suggest that the arteriopathy in CADASIL is caused by other mechanisms not necessarily involving Notch3 processing and activation.
|
16791082 |
2006 |
|
Arteriopathic disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
CADASIL is an autosomal dominant inherited arteriopathy caused by a point mutation in the Notch3 gene.
|
17323840 |
2006 |
|
Arteriopathic disease
|
0.100 |
Biomarker
|
group |
BEFREE |
Human Notch genes are linked to Alagille's Syndrome, a developmental disorder with vascular defects, and CADASIL, a cerebral arteriopathy.
|
14988924 |
2004 |
|
Arteriopathic disease
|
0.100 |
Biomarker
|
group |
BEFREE |
CADASIL is an arterial disease that has been linked to nucleotide substitutions and deletions in the Notch 3 gene.
|
12597610 |
2002 |
|
Arteriopathic disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
CADASIL is an autosomal dominant arteriopathy, characterized by multiple brain infarcts, cognitive decline, and finally dementia, which is caused by mutations in Notch3 gene encoding a Notch3 receptor protein.
|
11486103 |
2001 |
|
Arteriopathic disease
|
0.100 |
Biomarker
|
group |
BEFREE |
CADASIL arteriopathy is characterized by major alterations of vascular smooth muscle cells and the presence of specific granular osmiophilic deposits.
|
10712431 |
2000 |
|
Arteriopathic disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Recently, an autosomal dominant form of cerebral arteriopathy (CADASIL) has been described in association with a Notch3 family gene on the short arm of chromosome 19.
|
9877528 |
1998 |
|
Arteriopathic disease
|
0.100 |
GeneticVariation
|
group |
BEFREE |
One hallmark of this arteriopathy due to mutations of Notch 3 gene is the presence of MRI signal abnormalities in both symptomatic and asymptomatic patients.
|
9710018 |
1998 |