(Q50265321)

28 February 2018

title

First report of a pathogenic mutation on exon 24 of the NOTCH3 gene in a CADASIL family. (English)

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28 February 2018

author

Francesca Pescini

3

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28 February 2018

Silvia Bianchi

object named as

Silvia Bianchi

2

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author name string

Raffaella Valenti

1

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28 February 2018

Camilla D'Eramo

4

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28 February 2018

Domenico Inzitari

5

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28 February 2018

Maria Teresa Dotti

6

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28 February 2018

Leonardo Pantoni

7

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28 February 2018

publication date

16 March 2011

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28 February 2018

published in

Journal of Neurology

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28 February 2018

volume

258

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28 February 2018

issue

9

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28 February 2018

page(s)

1632-1636

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28 February 2018

https://scigraph.springernature.com/pub.10.1007/s00415-011-5983-3

exact match

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-5983-3

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-5983-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-5983-3

Acute unilateral visual loss as the first symptom of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-5983-3

Intracerebral hemorrhages in CADASIL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-5983-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-5983-3

Patterns of MRI lesions in CADASIL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-5983-3

Comparison of clinical, familial, and MRI features of CADASIL and NOTCH3-negative patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-5983-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-5983-3

The spectrum of Notch3 mutations in 28 Italian CADASIL families

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-5983-3

The spectrum of mutations for CADASIL diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-5983-3

Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-5983-3

Consensus guidelines for the clinical and pathologic diagnosis of dementia with Lewy bodies (DLB): report of the consortium on DLB international workshop

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00415-011-5983-3

Progressive supranuclear palsy: clinicopathological concepts and diagnostic challenges

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00415-011-5983-3

Vascular parkinsonism: a clinical review

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-5983-3

Vascular parkinsonism in a CADASIL case with an intact nigrostriatal dopaminergic system

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-5983-3

Progressive supranuclear palsy phenotype secondary to CADASIL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-5983-3

A pathogenic mutation on exon 21 of the NOTCH3 gene causing CADASIL in an octogenarian paucisymptomatic patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-5983-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-011-5983-3

High frequency of exon 10 mutations in the NOTCH3 gene in Italian CADASIL families: phenotypic peculiarities

21 January 2018

1 reference

12 December 2020

The spatial distribution of MR imaging abnormalities in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy and their relationship to age and clinical features.

1 reference

12 December 2020

Multiple System Atrophy

1 reference

12 December 2020

Thrombophilic risk factors and unusual clinical features in three Italian CADASIL patients

1 reference

12 December 2020

Fundamentals of sequencing of difficult templates--an overview

1 reference

12 December 2020

Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G-C content

1 reference

12 December 2020

Myocardial infarction in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

1 reference

12 December 2020

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

1 reference

12 December 2020

Diagnostic strategies in CADASIL

1 reference

12 December 2020

Autopsy-confirmed, co-existent CADASIL and multiple system atrophy

1 reference

12 December 2020

10.1007/S00415-011-5983-3

Identifiers

DOI

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28 February 2018

1 reference

28 February 2018