(Q35754682)

10 August 2017

0 references

Prevalence of CADASIL and Fabry Disease in a Cohort of MRI Defined Younger Onset Lacunar Stroke (English)

1 reference

10 August 2017

1 reference

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26305465%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Loes Rutten-Jacobs

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26305465%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Steve Bevan

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26305465%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Derralynn A Hughes

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26305465%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

author name string

Rob Baker

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26305465%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Ahamad Hassan

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26305465%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Hugh S Markus

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26305465%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

UK Young Lacunar Stroke DNA Study

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26305465%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

language of work or name

English

0 references

publication date

25 August 2015

1 reference

10 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26305465%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

volume

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26305465%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26305465%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

page(s)

e0136352

1 reference

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Creative Commons Attribution 4.0 International

1 June 2020

copyright license

start time

25 August 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Prevalence of Fabry disease in stroke patients--a systematic review and meta-analysis

1 reference

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Considerations on a mutation in the NOTCH3 gene sparing a cysteine residue: a rare polymorphism rather than a CADASIL variant

2 October 2017

1 reference

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Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study

2 October 2017

1 reference

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MutationTaster evaluates disease-causing potential of sequence alterations

2 October 2017

1 reference

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A method and server for predicting damaging missense mutations

2 October 2017

1 reference

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Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke

2 October 2017

1 reference

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Narrative review: Fabry disease

2 October 2017

1 reference

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High incidence of later-onset fabry disease revealed by newborn screening

2 October 2017

1 reference

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Magnetic resonance imaging changes in Fabry disease.

2 October 2017

1 reference

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Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study.

2 October 2017

1 reference

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SIFT: Predicting amino acid changes that affect protein function

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4549151

Description of a simple test for CADASIL disease and determination of mutation frequencies in sporadic ischaemic stroke and dementia patients

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4549151

Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4549151

Classification of subtype of acute ischemic stroke. Definitions for use in a multicenter clinical trial. TOAST. Trial of Org 10172 in Acute Stroke Treatment

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4549151

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4549151

Classification and natural history of clinically identifiable subtypes of cerebral infarction

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4549151

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4549151

Cysteine-sparing CADASIL mutations in NOTCH3 show proaggregatory properties in vitro

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4549151

Prevalence of Fabry disease in young patients with cryptogenic ischemic stroke

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4549151

Zurich Fabry study - prevalence of Fabry disease in young patients with first cryptogenic ischaemic stroke or TIA.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4549151

Fabry disease in unselected patients with TIA or stroke: population-based study.

25 September 2018

1 reference

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Screening for NOTCH3 gene mutations among 151 consecutive Korean patients with acute ischemic stroke.

25 September 2018

1 reference

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The use of high resolution melting analysis to detect Fabry mutations in heterozygous females via dry bloodspots.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4549151

Belgian Fabry study: prevalence of Fabry disease in a cohort of 1000 young patients with cerebrovascular disease.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4549151

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4549151

Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study--screening genetic conditions in Portuguese young stroke patients

25 September 2018

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Middelheim Fabry Study (MiFaS): a retrospective Belgian study on the prevalence of Fabry disease in young patients with cryptogenic stroke.

25 September 2018

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Two novel mutations of the NOTCH3 gene in Korean patients with CADASIL.

25 September 2018

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Evaluating the genetic component of ischemic stroke subtypes: a family history study

25 September 2018

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Yield of screening for CADASIL mutations in lacunar stroke and leukoaraiosis

25 September 2018

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A semiquantative rating scale for the assessment of signal hyperintensities on magnetic resonance imaging

25 September 2018

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Gene Mutations Versus Clinically Relevant Phenotypes

25 September 2018

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Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0136352

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

21 January 2018

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12 December 2020

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12 December 2020

Family history of stroke is an independent risk factor for lacunar stroke subtype with asymptomatic lacunar infarcts at younger ages

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12 December 2020

Diagnostic strategies in CADASIL

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12 December 2020

Pathologic correlates of incidental MRI white matter signal hyperintensities

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12 December 2020

10.1371/JOURNAL.PONE.0136352

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26305465%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

0 references

release_igwyggxzmjbfba2ab4eqiumj2a

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/igwyggxzmjbfba2ab4eqiumj2a

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26305465%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

26305465

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26305465%20AND%20SRC:MED&resulttype=core&format=json