CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients (Q60469194)

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21 February 2020

title

CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients (English)

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21 February 2020

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1

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21 February 2020

Francesca Pescini

5

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21 February 2020

Antonio Federico

11

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author name string

Enza Zicari

2

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21 February 2020

Alessandra Carluccio

3

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21 February 2020

Ilaria Di Donato

4

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21 February 2020

Serena Nannucci

6

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21 February 2020

Raffaella Valenti

7

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21 February 2020

Michele Ragno

8

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21 February 2020

Domenico Inzitari

9

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21 February 2020

Leonardo Pantoni

10

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Maria Teresa Dotti

12

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publication date

26 October 2014

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21 February 2020

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21 February 2020

volume

262

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issue

1

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page(s)

134-141

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

21 February 2020

cites work

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12 December 2020

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

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

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

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A novel mutation in the Notch3 gene in an Italian family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: genetic and magnetic resonance spectroscopic findings

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

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

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The spectrum of Notch3 mutations in 28 Italian CADASIL families

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CADASIL: a common form of hereditary arteriopathy causing brain infarcts and dementia

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Quantitative MRI in CADASIL: correlation with disability and cognitive performance

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

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12 December 2020

Gene symbol: NOTCH3. Disease: CADASIL

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Novel human pathological mutations. Gene symbol: NOTCH3. Disease: CADASIL, exon 2 mutation

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12 December 2020

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

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12 December 2020

Cardiac autonomic nervous system and risk of arrhythmias in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

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12 December 2020

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

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12 December 2020

Diagnostic strategies in CADASIL

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12 December 2020

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

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12 December 2020

[Diagnosis, pathomechanism and treatment of CADASIL].

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12 December 2020

Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients

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12 December 2020

The phenotypic spectrum of CADASIL: clinical findings in 102 cases

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12 December 2020

Identification of a novel mutation C144F in the Notch3 gene in an Australian CADASIL pedigree.

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12 December 2020

High recurrence of the R1006C NOTCH3 mutation in central Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

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12 December 2020

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

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12 December 2020

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12 December 2020

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

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12 December 2020

10.1007/S00415-014-7533-2

Identifiers

DOI

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21 February 2020

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