(Q38213076)

31 August 2017

title

Interpretation of NOTCH3 mutations in the diagnosis of CADASIL. (English)

1 reference

31 August 2017

3

Gisela M Terwindt

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31 August 2017

Julie W Rutten

1

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31 August 2017

Joost Haan

2

1 reference

31 August 2017

Sjoerd G van Duinen

4

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31 August 2017

Elles M J Boon

5

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31 August 2017

Saskia A J Lesnik Oberstein

6

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31 August 2017

publication date

1 June 2014

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Expert Review of Molecular Diagnostics: new diagnostic technologies are set to revolutionise healthcare

31 August 2017

published in

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31 August 2017

volume

14

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31 August 2017

issue

5

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31 August 2017

page(s)

593-603

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Autosomal dominant syndrome with strokelike episodes and leukoencephalopathy.

31 August 2017

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Notch3 is required for arterial identity and maturation of vascular smooth muscle cells

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Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients

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

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Abnormal recruitment of extracellular matrix proteins by excess Notch3 ECD: a new pathomechanism in CADASIL

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

21 January 2018

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Reduced cerebrovascular CO(2) reactivity in CADASIL: A transcranial Doppler sonography study

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

21 January 2018

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

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Clinical spectrum of CADASIL and the effect of cardiovascular risk factors on phenotype: study in 200 consecutively recruited individuals

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The pattern of cognitive performance in CADASIL: a monogenic condition leading to subcortical ischemic vascular dementia.

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Apathy: a major symptom in CADASIL.

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"CADASIL coma": an underdiagnosed acute encephalopathy

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"CADASIL coma" in an Italian homozygous CADASIL patient: comparison with clinical and MRI findings in age-matched heterozygous patients with the same G528C NOTCH3 mutation

21 January 2018

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Patterns of MRI lesions in CADASIL.

21 January 2018

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Differential lesion patterns in CADASIL and sporadic subcortical arteriosclerotic encephalopathy: MR imaging study with statistical parametric group comparison.

21 January 2018

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Cerebral microbleeds in CADASIL.

21 January 2018

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Subcortical lacunar lesions: an MR imaging finding in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

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NOTCH3 mutations and clinical features in 33 mainland Chinese families with CADASIL.

21 January 2018

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Is inadequate family history a barrier to diagnosis in CADASIL?

21 January 2018

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De novo mutation in theNotch3 gene causing CADASIL

21 January 2018

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Evaluation of diagnostic NOTCH3 immunostaining in CADASIL.

21 January 2018

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CADASIL: skin biopsy allows diagnosis in early stages.

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.2014.922880

Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients

21 January 2018

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Role of electron microscopy in the diagnosis of cadasil syndrome: a study of 32 patients

21 January 2018

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Diagnostic value of ultrastructural skin biopsy studies in CADASIL.

21 January 2018

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Diet and risk of dementia: does fat matter? The Rotterdam Study.

21 January 2018

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C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke

21 January 2018

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

21 January 2018

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Quantitative MRI in CADASIL: correlation with disability and cognitive performance

21 January 2018

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Different clinical phenotypes in monozygotic CADASIL twins with a novel NOTCH3 mutation

21 January 2018

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A homozygous NOTCH3 mutation p.R544C and a heterozygous TREX1 variant p.C99MfsX3 in a family with hereditary small vessel disease of the brain.

21 January 2018

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Homozygosity and severity of phenotypic presentation in a CADASIL family.

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.2014.922880

Hypomorphic NOTCH3 alleles do not cause CADASIL in humans.

21 January 2018

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

21 January 2018

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

21 January 2018

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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy affecting an African American man: identification of a novel 15-base pair NOTCH3 duplication

21 January 2018

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Skin and sural nerve biopsies: ultrastructural findings in the first genetically confirmed cases of CADASIL in Serbia.

21 January 2018

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

21 January 2018

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First deep intronic mutation in the NOTCH3 gene in a family with late-onset CADASIL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.2014.922880

Two Japanese CADASIL families exhibiting Notch3 mutation R75P not involving cysteine residue

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.2014.922880

Two novel mutations and a previously unreported intronic polymorphism in the NOTCH3 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.2014.922880

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.2014.922880

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and CADASIL-like disorders in Japan

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.2014.922880

CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.2014.922880

Cysteine-sparing notch3 mutations: cadasil or cadasil variants?

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.2014.922880

Case records of the Massachusetts General Hospital. Case 12-2009. A 46-year-old man with migraine, aphasia, and hemiparesis and similarly affected family members

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.2014.922880

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.2014.922880

A novel NOTCH3 frameshift deletion and mitochondrial abnormalities in a patient with CADASIL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.2014.922880

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

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.2014.922880

Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis

21 January 2018

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https://api.crossref.org/works/10.1586%2F14737159.2014.922880

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.2014.922880

NOTCH3 variants and risk of ischemic stroke

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.2014.922880

Genetic variants of the NOTCH3 gene in the elderly and magnetic resonance imaging correlates of age-related cerebral small vessel disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.2014.922880

Archetypal Arg169Cys Mutation in NOTCH3 Does Not Drive the Pathogenesis in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leucoencephalopathy via a Loss-of-Function Mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2F14737159.2014.922880

10.1586/14737159.2014.922880

21 January 2018

Identifiers

DOI

1 reference

31 August 2017

1 reference