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Genotypic and phenotypic spectrum of CADASIL in Japan: the experience at a referral center in Kumamoto University from 1997 to 2014.

Journal of neurology - 1 Aug 2015

Ueda Akihiko, Ueda Mitsuharu, Nagatoshi Akihito, Hirano Teruyuki, Ito Takaaki, Arai Nobutaka, Uyama Eiichiro, Mori Kota, Nakamura Masaaki, Shinriki Satoru, Ikeda Katsuyoshi, Ando Yukio

Abstract excerpt

This study elucidates the genotypic and phenotypic spectrum and histopathological findings related to cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in Japan. For this single-center retrospective observational study, we enrolled 215 patients who were clinically suspected of having CADASIL and were examined at Kumamoto University from 1997 to 2014, and we...

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PMID: 25980907
DOI: 10.1007/s00415-015-7782-8

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NOTCH3

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Genotypic and phenotypic spectrum of CADASIL in Japan: the experience at a referral center in Kumamoto University from 1997 to 2014.PMID 25980907Read ↗

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