Literature DB >> 30199759

A Japanese CADASIL patient with homozygous NOTCH3 p.Arg544Cys mutation confirmed pathologically.

Mao Mukai1, Ikuko Mizuta1, Akihiko Ueda2, Daisuke Nakashima1, Yukie Kushimura1, Yu-Ichi Noto1, Tomoyuki Ohara1, Kyoko Itoh3, Yukio Ando2, Toshiki Mizuno4.   

Abstract

Entities:  

Keywords:  Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL); Granular osmiophilic material (GOM); Homozygosity; p.Arg544Cys (p.R544C)

Mesh：

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Year:  2018        PMID： 30199759     DOI： 10.1016/j.jns.2018.08.029

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN： 0022-510X            Impact factor:   3.181


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  2 in total

1.  A novel NOTCH3 mutation and its clinical, neuroimaging and pathological presentation in a Chinese patient with CADASIL: A case report.

Authors:  Jing Dang; Shengsuo Lei; Mingwan Xia; Jihua Chen
Journal:  Medicine (Baltimore)       Date:  2022-02-18       Impact factor: 1.817

Review 2.  Clinical and Genetic Aspects of CADASIL.

Authors:  Toshiki Mizuno; Ikuko Mizuta; Akiko Watanabe-Hosomi; Mao Mukai; Takashi Koizumi
Journal:  Front Aging Neurosci       Date:  2020-05-07       Impact factor: 5.750
  2 in total

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