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Article

Systematic Review of Cerebral Phenotypes Associated With Monogenic Cerebral Small-Vessel Disease.

Journal of the American Heart Association - 21 Jun 2022

Whittaker Ed, Thrippleton Sophie, Chong Liza Y W, Collins Victoria G, Ferguson Amy C, Henshall David E, Lancastle Emily, Wilkinson Tim, Wilson Blair, Wilson Kirsty, Sudlow Cathie, Wardlaw Joanna, Rannikmäe Kristiina

Abstract excerpt

Background Cerebral small-vessel disease (cSVD) is an important cause of stroke and vascular dementia. Most cases are multifactorial, but an emerging minority have a monogenic cause. While NOTCH3 is the best-known gene, several others have been reported. We aimed to summarize the cerebral phenotypes associated with these more recent cSVD genes. Methods and Results We performed a systematic review (PROSPERO...

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Identifiers

PMID: 35699195
DOI: 10.1161/JAHA.121.025629
PMCID: PMC9238640

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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