(Q33775902)

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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a genetic cause of cerebral small vessel disease

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scholarly article

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Europe PubMed Central

PubMed publication ID

29 July 2017

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Europe PubMed Central

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: a genetic cause of cerebral small vessel disease (English)

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

author name string

Jay Chol Choi

1

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

publication date

26 March 2010

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Journal of clinical neurology

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

6

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

1

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

1-9

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

copyright license

Creative Commons Attribution-NonCommercial 3.0 Unported

1 January 2010

1 reference

April 2022 Public Data File from Crossref

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0 references

CADASIL mutations enhance spontaneous multimerization of NOTCH3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

4 July 2018

Distinct phenotypic and functional features of CADASIL mutations in the Notch3 ligand binding domain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

4 July 2018

Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

4 July 2018

Psychiatric disturbances in CADASIL: a brief review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

4 July 2018

Donepezil in patients with subcortical vascular cognitive impairment: a randomised double-blind trial in CADASIL.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

4 July 2018

Activating NOTCH3 mutation in a patient with small-vessel-disease of the brain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

4 July 2018

Cortical neuronal apoptosis in CADASIL.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

4 July 2018

Brain volume changes in CADASIL: a serial MRI study in pure subcortical ischemic vascular disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

4 July 2018

Cognitive profile in CADASIL.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

4 July 2018

Diffusion magnetic resonance histograms as a surrogate marker and predictor of disease progression in CADASIL: a two-year follow-up study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

4 July 2018

Is inadequate family history a barrier to diagnosis in CADASIL?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

4 July 2018

The prevalence of cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) in the west of Scotland

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

4 July 2018

The spectrum of Notch3 mutations in 28 Italian CADASIL families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

4 July 2018

Cerebral small vessel diseases: cerebral microangiopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

4 July 2018

Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

4 July 2018

Notch signaling in vascular morphogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

4 July 2018

A two-year clinical follow-up study in 80 CADASIL subjects: progression patterns and implications for clinical trials

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

4 July 2018

Pathogenic mutations associated with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy differently affect Jagged1 binding and Notch3 activity via the RBP/JK signaling Pathway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

4 July 2018

Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

4 July 2018

Cerebral hemodynamics in CADASIL before and after acetazolamide challenge assessed with MRI bolus tracking

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

4 July 2018

De novo mutation in the Notch3 gene causing CADASIL

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

4 July 2018

The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

4 July 2018

Notch signaling: cell fate control and signal integration in development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

4 July 2018

Patterns of MRI lesions in CADASIL.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

4 July 2018

Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

4 July 2018

CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

4 July 2018

CADASIL: skin biopsy allows diagnosis in early stages

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

4 July 2018

Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

4 July 2018

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

4 July 2018

Systemic vascular smooth muscle cell impairment in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

4 July 2018

Clinical spectrum of CADASIL: a study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

4 July 2018

Hereditary multi-infarct dementia. Morphological and clinical studies of a new disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

4 July 2018

Nerve conduction studies in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

30 October 2018

Apathy: a major symptom in CADASIL.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

30 October 2018

Population-specific spectrum of NOTCH3 mutations, MRI features and founder effect of CADASIL in Chinese

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

30 October 2018

Lacunar lesions are independently associated with disability and cognitive impairment in CADASIL.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

30 October 2018

Lacunar infarcts are the main correlate with cognitive dysfunction in CADASIL.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

30 October 2018

Hereditary multi-infarct dementia of the Swedish type is a novel disorder different from NOTCH3 causing CADASIL.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

30 October 2018

Intracerebral hemorrhages in CADASIL.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

30 October 2018

Arterioles of the lenticular nucleus in CADASIL.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

30 October 2018

Notch3 ectodomain is a major component of granular osmiophilic material (GOM) in CADASIL

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

30 October 2018

Blood pressure and haemoglobin A1c are associated with microhaemorrhage in CADASIL: a two-centre cohort study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

30 October 2018

The cognitive profiles of CADASIL and sporadic small vessel disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

30 October 2018

Characteristics of CADASIL in Korea: a novel cysteine-sparing Notch3 mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

30 October 2018

Two novel mutations of the NOTCH3 gene in Korean patients with CADASIL.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

30 October 2018

Large cerebral artery involvement in CADASIL.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

30 October 2018

Detection of the founder effect in Finnish CADASIL families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

30 October 2018

A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

30 October 2018

The influence of genetic and cardiovascular risk factors on the CADASIL phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

30 October 2018

Positron emission tomography examination of cerebral blood flow and glucose metabolism in young CADASIL patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

30 October 2018

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy: MR Imaging Findings at Different Ages—3rd–6th Decades

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

30 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

30 October 2018

Yield of screening for CADASIL mutations in lacunar stroke and leukoaraiosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

30 October 2018

Arterial changes in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in relation to pathogenesis of diffuse myelin loss of cerebral white matter: examination of cerebral medullary arteries by recon

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

30 October 2018

Acetazolamide for the treatment of migraine with aura in CADASIL.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

30 October 2018

MRI hyperintensities of the temporal lobe and external capsule in patients with CADASIL.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

30 October 2018

SPECT study of a German CADASIL family: a phenotype with migraine and progressive dementia only

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

30 October 2018

Autosomal dominant leukoencephalopathy and subcortical ischemic stroke. A clinicopathological study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

30 October 2018

Summary of the proceedings of the First International Workshop on CADASIL. Paris, May 19-21, 1993.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

30 October 2018

Right-to-Left Shunt in CADASIL Patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2851292

30 October 2018

A new de novo Notch3 mutation causing CADASIL

1 reference

https://pubmed.ncbi.nlm.nih.gov/20386637

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cysteine-sparing notch3 mutations: cadasil or cadasil variants?

1 reference

https://pubmed.ncbi.nlm.nih.gov/20386637

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chronic familial vascular encephalopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/20386637

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Presence of ultrastructural arterial lesions in muscle and skin vessels of patients with CADASIL

1 reference

https://pubmed.ncbi.nlm.nih.gov/20386637

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Angiographic complications in CADASIL

1 reference

https://pubmed.ncbi.nlm.nih.gov/20386637

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Acetazolamide-responsive migraine in CADASIL

1 reference

https://pubmed.ncbi.nlm.nih.gov/20386637

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The phenotypic spectrum of CADASIL: clinical findings in 102 cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/20386637

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The natural history of CADASIL: a pooled analysis of previously published cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/20386637

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotype of a homozygous CADASIL patient in comparison to 9 age-matched heterozygous patients with the same R133C Notch3 mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/20386637

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fibrosis and stenosis of the long penetrating cerebral arteries: the cause of the white matter pathology in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/20386637

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnostic strategies in CADASIL

1 reference

https://pubmed.ncbi.nlm.nih.gov/20386637

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.3988/JCN.2010.6.1.1

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

ResearchGate publication ID

0 references

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