Role of electron microscopy in the diagnosis of cadasil syndrome: a study of 32 patients (Q31120190)

17 August 2017

Role of electron microscopy in the diagnosis of cadasil syndrome: a study of 32 patients (English)

1 reference

17 August 2017

Teresa Lorenzi

7

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author name string

Manrico Morroni

1

1 reference

17 August 2017

Daniela Marzioni

2

1 reference

17 August 2017

Michele Ragno

3

1 reference

17 August 2017

Paolo Di Bella

4

1 reference

17 August 2017

Elisabetta Cartechini

5

1 reference

17 August 2017

Luigi Pianese

6

1 reference

17 August 2017

Mario Castellucci

8

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17 August 2017

Marina Scarpelli

9

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17 August 2017

language of work or name

English

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publication date

17 June 2013

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17 August 2017

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17 August 2017

8

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17 August 2017

6

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17 August 2017

e65482

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Creative Commons Attribution 4.0 International

17 August 2017

start time

17 June 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

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

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Pathogenesis of CADASIL: transgenic and knock-out mice to probe function and dysfunction of the mutated gene, Notch3, in the cerebrovasculature

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3684609

Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3684609

Skin biopsy findings and results of neuropsychological testing in the first confirmed cases of CADASIL in Norway

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3684609

The spectrum of Notch3 mutations in 28 Italian CADASIL families

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3684609

Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3684609

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3684609

Patterns of MRI lesions in CADASIL.

28 July 2018

1 reference

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Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3684609

CADASIL: skin biopsy allows diagnosis in early stages

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3684609

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3684609

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3684609

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3684609

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12

28 July 2018

1 reference

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Subcortical lacunar lesions: an MR imaging finding in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

21 January 2018

1 reference

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Autosomal dominant leukoencephalopathy and subcortical ischemic stroke. A clinicopathological study

21 January 2018

1 reference

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Histopathological abnormalities in ocular blood vessels of CADASIL patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0065482

Phenotypic variability of CADASIL and novel morphologic findings

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0065482

Nephroangiosclerosis in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: is NOTCH3 mutation the common culprit?

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0065482

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0065482

Diagnostic value of ultrastructural skin biopsy studies in CADASIL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0065482

Evaluation of diagnostic NOTCH3 immunostaining in CADASIL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0065482

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0065482

Renal involvement in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): report of a case with a six-year follow-up

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3684609

Renal involvement in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3684609

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

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3684609

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

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3684609

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

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3684609

Cerebral microbleeds in CADASIL: a gradient-echo magnetic resonance imaging and autopsy study

25 November 2018

1 reference

12 December 2020

Diagnostic strategies in CADASIL

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification of the characteristic vascular changes in a sural nerve biopsy of a case with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

1 reference

12 December 2020

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): a morphological study of a German family

1 reference

12 December 2020

Characteristic morphologic manifestation of CADASIL, cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy, in skeletal muscle and skin

1 reference

12 December 2020

Endothelial changes in muscle and skin biopsies in 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

10.1371/JOURNAL.PONE.0065482

Identifiers

DOI

1 reference

17 August 2017

0 references

1 reference

17 August 2017

PubMed publication ID

23799017

1 reference