Two Japanese CADASIL Families Exhibiting Notch3 Mutation R75P Not Involving Cysteine Residue-Reference-Cited by-同舟云学术

Two Japanese CADASIL Families Exhibiting Notch3 Mutation R75P Not Involving Cysteine Residue

Published:2008 Issue:23 Volume:47 Page:2067-2072
ISSN:0918-2918
Container-title:Internal Medicine
language:en
Short-container-title:Intern. Med.

Author:

Mizuno Toshiki¹,Muranishi Manabu¹,Torugun Torusunjian¹,Tango Hiromi¹,Nagakane Yoshinari¹,Kudeken Tukasa²,Kawase Yuji²,Kawabe Kiyokazu²,Oshima Fumiko³,Yaoi Takeshi⁴,Itoh Kyoko⁴,Fushiki Shinji⁴,Nakagawa Masanori¹

Affiliation:

1. Department of Molecular Neurology, Kyoto Prefectural University of Medicine

2. Department of Neurology, Oomori Hospital, Toho University

3. Department of Neurology, Kyoto First Red Cross Hospital

4. Department of Pathology & Applied Neurobiology, Kyoto Prefectural University of Medicine

Publisher

Japanese Society of Internal Medicine

Subject

General Medicine,Internal Medicine

Link

http://www.jstage.jst.go.jp/article/internalmedicine/47/23/47_23_2067/_pdf

Reference25 articles.

1. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12

2. Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia

3. Spectrum of Mutations in Biopsy-Proven CADASIL

4. Genetic, clinical and pathological studies of CADASIL in Japan: a partial contribution of Notch3 mutations and implications of smooth muscle cell degeneration for the pathogenesis

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