(Q44480153)

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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

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scholarly article

1 reference

Europe PubMed Central

3 December 2017

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 (English)

1 reference

Europe PubMed Central

3 December 2017

author name string

Yo Santa

1

1 reference

Europe PubMed Central

3 December 2017

Eiichiro Uyama

2

1 reference

Europe PubMed Central

3 December 2017

De Hua Chui

3

1 reference

Europe PubMed Central

3 December 2017

Masakuni Arima

4

1 reference

Europe PubMed Central

3 December 2017

Satoshi Kotorii

5

1 reference

Europe PubMed Central

3 December 2017

Keikichi Takahashi

6

1 reference

Europe PubMed Central

3 December 2017

Takeshi Tabira

7

1 reference

Europe PubMed Central

3 December 2017

publication date

1 August 2003

1 reference

Europe PubMed Central

3 December 2017

Journal of the Neurological Sciences

1 reference

Europe PubMed Central

3 December 2017

212

1 reference

Europe PubMed Central

3 December 2017

1-2

1 reference

Europe PubMed Central

3 December 2017

79-84

1 reference

Europe PubMed Central

3 December 2017

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900109-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900109-6

7 January 2021

Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900109-6

7 January 2021

Mutations of the notch3 gene in non-caucasian patients with suspected CADASIL syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900109-6

7 January 2021

Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900109-6

7 January 2021

Migraine with aura and white matter abnormalities: Notch3 mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900109-6

7 January 2021

Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3 EGF-like repeat domains

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900109-6

7 January 2021

A Novel Mutation in the Notch3 Gene in an Italian Family With Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900109-6

7 January 2021

De novo mutation in theNotch3 gene causing CADASIL

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900109-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900109-6

7 January 2021

Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900109-6

7 January 2021

NOTCH3 mutation involving three cysteine residues in a family with typical CADASIL

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900109-6

7 January 2021

Autosomal dominant early onset dementia and leukoencephalopathy in a Japanese family: clinical, neuroimaging and genetic studies.

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900109-6

7 January 2021

Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900109-6

7 January 2021

Familial young-adult-onset arteriosclerotic leukoencephalopathy with alopecia and lumbago without arterial hypertension

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900109-6

7 January 2021

Subcortical vascular encephalopathy in a normotensive, young adult with premature baldness and spondylitis deformans. A clinicopathological study and review of the literature

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900109-6

7 January 2021

CADASIL: a review with proposed diagnostic criteria

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900109-6

7 January 2021

Differential diagnosis of a vascular leukoencephalopathy within a CADASIL family: use of skin biopsy electron microscopy study and direct genotypic screening.

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900109-6

7 January 2021

Retinal findings in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (cadasil).

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900109-6

7 January 2021

Vascular expression of Notch pathway receptors and ligands is restricted to arterial vessels.

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900109-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900109-6

7 January 2021

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://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900109-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900109-6

7 January 2021

Nocturnal blood pressure dip in CADASIL.

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900109-6

7 January 2021

Identification of a Notch3 mutation in a Japanese CADASIL family. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900109-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Arg133Cys mutation of Notch3 in two unrelated Japanese families with CADASIL.

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900109-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S0022-510X(03)00109-6

1 reference

Europe PubMed Central

3 December 2017

1 reference

Europe PubMed Central

3 December 2017

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