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Article

Genotype-phenotype correlations of cysteine replacement in CADASIL.

Neurobiology of aging - 1 Feb 2017

Matsushima Takashi, Conedera Silvio, Tanaka Ryota, Li Yuanzhe, Yoshino Hiroyo, Funayama Manabu, Ikeda Aya, Hosaka Yuka, Okuzumi Ayame, Shimada Yoshiaki, Yamashiro Kazuo, Motoi Yumiko, Nishioka Kenya, Hattori Nobutaka

Abstract excerpt

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is characterized by cerebral infarction related to mutations in the notch homolog protein 3 (NOTCH3). We enrolled 10 patients whose brain magnetic resonance imaging (MRI) fluid-attenuated inversion recovery images showed hyperintensities (HIs) in the deep white matter and the external capsule. We then investigated...

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Source

Identifiers

PMID: 27890607
DOI: 10.1016/j.neurobiolaging.2016.10.026

Genes

NOTCH3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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