Interpretation of NOTCH3 mutations in the diagnosis of CADASIL. (Q38213076)

31 August 2017

title

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

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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

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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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"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

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CADASIL: skin biopsy allows diagnosis in early stages.

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Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients

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

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Diagnostic value of ultrastructural skin biopsy studies in CADASIL.

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Hypomorphic NOTCH3 alleles do not cause CADASIL in humans.

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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

21 January 2018

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

21 January 2018

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

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21 January 2018

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NOTCH3 variants and risk of ischemic stroke

21 January 2018

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21 January 2018

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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

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10.1586/14737159.2014.922880

21 January 2018

Identifiers

DOI

1 reference

31 August 2017

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