(Q37158175)

18 August 2017

Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients (English)

1 reference

18 August 2017

0 references

Minna Pöyhönen

6

0 references

Marc Baumann

object named as

Marc Baumann

10

0 references

Anne Joutel

object named as

Anne Joutel

8

0 references

Hannele Yki-Järvinen

7

object named as

Hannele Yki-Järvinen

1 reference

18 August 2017

Saara Tikka

1

1 reference

18 August 2017

Kati Mykkänen

2

1 reference

18 August 2017

Marie-Magdeleine Ruchoux

3

1 reference

18 August 2017

Robert Bergholm

4

1 reference

18 August 2017

Maija Junna

5

1 reference

18 August 2017

Matti Viitanen

9

1 reference

18 August 2017

Hannu Kalimo

11

1 reference

18 August 2017

language of work or name

English

0 references

publication date

27 January 2009

1 reference

18 August 2017

1 reference

18 August 2017

132

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18 August 2017

Pt 4

1 reference

18 August 2017

933-939

1 reference

The spectrum of Notch3 mutations in 28 Italian CADASIL families

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668941

6 September 2017

Lessons from CADASIL.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668941

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: phenotypic and mutational spectrum

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668941

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668941

Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668941

Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668941

The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668941

Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668941

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668941

Systemic vascular smooth muscle cell impairment in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668941

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668941

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668941

CADASIL: skin biopsy allows diagnosis in early stages

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668941

Hereditary multi-infarct dementia. Morphological and clinical studies of a new disease

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668941

Hereditary multi-infarct dementia of the Swedish type is a novel disorder different from NOTCH3 causing CADASIL.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668941

Evaluation of diagnostic NOTCH3 immunostaining in CADASIL.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668941

Morphometric analysis of ultrastructural vascular changes in CADASIL: analysis of 50 skin biopsy specimens and pathogenic implications

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668941

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668941

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668941

Autosomal dominant leukoencephalopathy and subcortical ischemic stroke. A clinicopathological study

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668941

Systemic vascular smooth muscle cell impairment in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

3 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWN364

Notch3 ectodomain is a major component of granular osmiophilic material (GOM) in CADASIL

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668941

Diagnostic strategies in CADASIL

20 October 2018

1 reference

12 December 2020

Presence of ultrastructural arterial lesions in muscle and skin vessels of patients with CADASIL

1 reference

12 December 2020

Muscle and skin biopsies are a sensitive diagnostic tool in the diagnosis of CADASIL

1 reference

12 December 2020

Fibrosis and stenosis of the long penetrating cerebral arteries: the cause of the white matter pathology in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

1 reference

12 December 2020

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

1 reference

12 December 2020

Skin biopsy value and leukoaraiosis

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

Diagnostic strategies in CADASIL

1 reference

12 December 2020

Identifiers

DOI

10.1093/BRAIN/AWN364

1 reference

18 August 2017

1 reference

18 August 2017

PubMed publication ID

19174371

1 reference