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Article

Role of electron microscopy in the diagnosis of cadasil syndrome: a study of 32 patients.

PloS one - 1 Jan 2013

Morroni Manrico, Marzioni Daniela, Ragno Michele, Di Bella Paolo, Cartechini Elisabetta, Pianese Luigi, Lorenzi Teresa, Castellucci Mario, Scarpelli Marina

Abstract excerpt

BACKGROUND AND PURPOSE: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by NOTCH3 gene mutations that result in vascular smooth muscle cell (VSMC) degeneration. Its distinctive feature by electron microscopy (EM) is granular osmiophil...

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Source

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Identifiers

PMID: 23799017
DOI: 10.1371/journal.pone.0065482
PMCID: PMC3684609

Genes

NOTCH3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23799017-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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