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Article

Diversity of stroke presentation in CADASIL: study from patients harboring the predominant NOTCH3 mutation R544C.

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association - 1 Feb 2013

Choi Jay Chol, Song Sook-Keun, Lee Jung Seok, Kang Sa-Yoon, Kang Ji-Hoon

Abstract excerpt

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a single-gene disorder of the cerebral small blood vessels caused by mutations in the NOTCH3 gene. Several characteristic population-specific clinical phenotypes and neuroimaging features have been reported in CADASIL. This study investigated the clinical stroke presentation and cranial magnetic resonance...

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Source

Identifiers

PMID: 21852154
DOI: 10.1016/j.jstrokecerebrovasdis.2011.07.002

Genes

NOTCH3

Variants

Provenance

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Diversity of stroke presentation in CADASIL: study from patients harboring the predominant NOTCH3 mutation R544C.PMID 21852154Read ↗

Sex Differences in the Clinical and Imaging Characteristics of Korean CADASIL Patients: A Korean Nationwide Retrospective StudySemantic proximity Read ↗

Clinical significance of cerebral microbleeds locations in CADASIL with R544C NOTCH3 mutation.Semantic proximity Read ↗

R558C NOTCH3 Mutation in a CADASIL Patient with Intracerebral Hemorrhage: A Case Report with Literature Review.Semantic proximity Read ↗

Clinical and radiological features in CADASIL and NOTCH3-negative patients: a multicenter study from Turkey.Semantic proximity Read ↗

Genotype and Phenotype Differences in CADASIL from an Asian Perspective.Semantic proximity Read ↗

Intracerebral Hemorrhage in Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.Semantic proximity Read ↗

Comparison of clinical, familial, and MRI features of CADASIL and NOTCH3-negative patients.Semantic proximity Read ↗

Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles.Semantic proximity Read ↗

CADASIL.Semantic proximity Read ↗

Cerebral hemorrhages in CADASIL: report of four cases and a brief review.Semantic proximity Read ↗

Management of Inherited CNS Small Vessel Diseases: The CADASIL Example: A Scientific Statement From the American Heart Association.Semantic proximity Read ↗

Characteristics of CADASIL in Korea: a novel cysteine-sparing Notch3 mutation.Semantic proximity Read ↗

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