Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Yumiko Kishikawa"'
Autor:
Yuka Hiraku, Toru Meguro, Yumiko Kishikawa, Ayako Sasaki, Tomoyuki Shimokaze, Hisaya Hasegawa, Kiyoshi Hayasaka, Tetsushi Yoshikawa
Publikováno v:
Journal of Human Genetics. 60:473-477
Examine the genotype-phenotype relationship in Japanese congenital central hypoventilation syndrome (CCHS) patients and estimate the incidence of CCHS in Japan. Subjects were 92 Japanese patients with PHOX2B mutations; 19 cases carried 25 polyalanine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bd18b51b4f48cc93692777d32caf5c5
https://doi.org/10.1038/jhg.2015.65
https://doi.org/10.1038/jhg.2015.65
Molecular analysis of the genes causing recessive demyelinating Charcot–Marie–Tooth disease in Japan
Autor:
Kyoko Watanabe, Mizue Iai, Satoshi Yamao, Hidee Arai, Nobuyuki Oka, Hideji Hattori, Akiko Abe, Keiji Chida, Yumiko Kishikawa, Tatsufumi Murakami, Kiyoshi Hayasaka, Makiko Hayashi
Publikováno v:
Journal of Human Genetics. 58:273-278
Charcot-Marie-Tooth disease (CMT), the most common hereditary neuropathy, has been classified into two types, demyelinating and axonal types. We previously analyzed the genes causing dominant demyelinating CMT in 227 Japanese patients to identify the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56996f598ea41ddd41f26d9d527d4ce0
https://doi.org/10.1038/jhg.2013.15
https://doi.org/10.1038/jhg.2013.15
Autor:
Yumiko Kishikawa, Toru Meguro, Ayako Sasaki, Narutaka Mochizuki, Yuki Yoshida, Kiyoshi Hayasaka, Makiko Hayashi, Tesshu Otagiri, Kentaro Toyota
Publikováno v:
Journal of Human Genetics. 57:335-337
Congenital central hypoventilation syndrome (CCHS; MIM 209880) is caused mostly by dominant alanine expansion (most prevalent is 7-alanine expansion) mutations in PHOX2B. More than 90% of the alanine expansion mutations had been considered to be de n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8756218e3999059011cc8fd642774b99
https://doi.org/10.1038/jhg.2012.27
https://doi.org/10.1038/jhg.2012.27
Autor:
Kazuyuki Nakamura, Yumiko Kishikawa, Chikahiko Numakura, Akiko Abe, Tomomi Honma, Emi Shirahata, Mitsuhiro Kato, Chizuru Seiwa, Kiyoshi Hayasaka, Aiko Itoh
Publikováno v:
Journal of human genetics. 55(11)
We present a 3⅓-year-old girl with severe Charcot-Marie-Tooth disease type 1 (Dejerine-Sottas disease), who was a compound heterozygote carrying a deletion of the whole peripheral myelin protein 22 (PMP22) and a deletion of exon 5 in the other PMP2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df1073b8d96b39ea5a8bf1e5440808a1
https://pubmed.ncbi.nlm.nih.gov/20739940
https://pubmed.ncbi.nlm.nih.gov/20739940
Autor:
Nobuyuki Oka, Kayoko Saito, Kiyoshi Hayasaka, Hiroyoshi Koide, Akiko Abe, Yumiko Kishikawa, Chikahiko Numakura, Akira Honma
Publikováno v:
Journal of human genetics. 54(2)
The neurofilament light chain polypeptide (NEFL) forms the major intermediate filament in neurons and axons. NEFL mutation is a cause of axonal or demyelinating forms of dominant Charcot-Marie-Tooth disease (CMT). We investigated NEFL in 223 Japanese
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ea2956476db6fe6d1ccb517b3a2cb63
https://pubmed.ncbi.nlm.nih.gov/19158810
https://pubmed.ncbi.nlm.nih.gov/19158810