(Q60469194)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25344745%20AND%20SRC:MED&resulttype=core&format=json

21 February 2020

title

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

1 reference

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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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21 February 2020

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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21 February 2020

Maria Teresa Dotti

12

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21 February 2020

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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21 February 2020

issue

1

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21 February 2020

page(s)

134-141

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https://scigraph.springernature.com/pub.10.1007/s00415-014-7533-2

21 February 2020

exact match

0 references

cites work

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Changing clinical patterns and increasing prevalence in CADASIL.

1 reference

12 December 2020

Spectrum of mutations in biopsy-proven CADASIL: implications for diagnostic strategies

1 reference

12 December 2020

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

1 reference

12 December 2020

Glossary of descriptive terminology for ictal semiology: report of the ILAE task force on classification and terminology.

1 reference

12 December 2020

The minimum prevalence of CADASIL in northeast England.

1 reference

12 December 2020

The International Classification of Headache Disorders: 2nd edition

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

The spectrum of Notch3 mutations in 28 Italian CADASIL families

1 reference

12 December 2020

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

1 reference

12 December 2020

1 reference

12 December 2020

The Cerebral Autosomal-Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Scale: a screening tool to select patients for NOTCH3 gene analysis.

1 reference

12 December 2020

Quantitative MRI in CADASIL: correlation with disability and cognitive performance

1 reference

12 December 2020

Report of the Expert Committee on the Diagnosis and Classification of Diabetes Mellitus

1 reference

12 December 2020

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

1 reference

12 December 2020

Gene symbol: NOTCH3. Disease: CADASIL

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Diagnostic strategies in CADASIL

1 reference

12 December 2020

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

1 reference

12 December 2020

[Diagnosis, pathomechanism and treatment of CADASIL].

1 reference

12 December 2020

Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients

1 reference

12 December 2020

The phenotypic spectrum of CADASIL: clinical findings in 102 cases

1 reference

12 December 2020

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

1 reference

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).

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

The World Health Organization MONICA Project (monitoring trends and determinants in cardiovascular disease): a major international collaboration. WHO MONICA Project Principal Investigators

1 reference

12 December 2020

Clinical practice. Transient ischemic attack

1 reference

12 December 2020

Lipoproteins and atherosclerosis: current views, future trends. 17-18 October, 1986, Helsinki, Finland

1 reference

12 December 2020

2003 World Health Organization (WHO)/International Society of Hypertension (ISH) statement on management of hypertension

1 reference

12 December 2020

Cerebral microbleeds in CADASIL.

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1007/S00415-014-7533-2

Identifiers

DOI

1 reference

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21 February 2020

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