Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Hideki, Tokuoka"'
Autor:
Hideki Tokuoka, Rieko Imae, Hitomi Nakashima, Hiroshi Manya, Chiaki Masuda, Shunsuke Hoshino, Kazuhiro Kobayashi, Dirk J. Lefeber, Riki Matsumoto, Takashi Okada, Tamao Endo, Motoi Kanagawa, Tatsushi Toda
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-13 (2022)
Ribitol-phospate modification is essential for the function of α-dystroglycan, and mutations in ISPD, an enzyme that synthesizes the the ribitol-phosphate donor CDP-ribitol, cause muscular dystrophy. Here, the authors show that recovery of CDP-ribit
Externí odkaz:
https://doaj.org/article/8eec98bd453046afa082b52bdd681c80
Autor:
Kento, Matoba, Norio, Chihara, Wataru, Satake, Hideki, Tokuoka, Yoshihisa, Otsuka, Takehiro, Ueda, Kenji, Sekiguchi, Masayuki, Itoh, Riki, Matsumoto
Publikováno v:
Neurology. Genetics. 8(5)
We describe 2 long-surviving siblings with a mild phenotype of Joubert syndrome (JBTS) harboring a novel compound heterozygous missense variant in theTargeted sequencing data of 2 middle-aged siblings (sister and brother) with JBTS were analyzed.The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2928c456f3579fc44470d6fbbffcc2ef
https://pubmed.ncbi.nlm.nih.gov/36176335
https://pubmed.ncbi.nlm.nih.gov/36176335
Autor:
Tetsuya Oda, Yoshikatsu Noda, Hirotoshi Hamaguchi, Hideki Tokuoka, Fumio Kanda, Tatsushi Toda, Kenji Sekiguchi
Publikováno v:
Journal of the Neurological Sciences. 377:1-5
Spontaneous anterior interosseous nerve (AIN) palsy develops following the resolution of nerve pain, which may be considered as distal neuralgic amyotrophy. NA is assumed to have a complex etiology, but an autoimmune mechanism is likely involved. How
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a017974b7fd997582972a1e942528b25
https://doi.org/10.1016/j.jns.2017.03.037
https://doi.org/10.1016/j.jns.2017.03.037
Publikováno v:
Human Pathobiochemistry ISBN: 9789811329760
A 1-year-old Japanese female patient with motor retardation was brought to our outpatient clinic by her mother. The child was found to have high serum creatine kinase (CK) level according to the 1-year-old medical checkup and was recommended further
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::83dfe4d49c99ab15bae7b49b84cd1aa4
https://doi.org/10.1007/978-981-13-2977-7_20
https://doi.org/10.1007/978-981-13-2977-7_20
Autor:
Yoshiaki, Nishida, Masayuki, Nakamura, Yuka, Urata, Kei, Kasamo, Hanae, Hiwatashi, Izumi, Yokoyama, Masahiro, Mizobuchi, Kotaro, Sakurai, Yasushi, Osaki, Yukari, Morita, Masako, Watanabe, Kenji, Yoshida, Kiyomi, Yamane, Natsuki, Miyakoshi, Ryouichi, Okiyama, Takehiro, Ueda, Noritaka, Wakasugi, Yuji, Saitoh, Takashi, Sakamoto, Yuji, Takahashi, Ken, Shibano, Hideki, Tokuoka, Atsushi, Hara, Kazunari, Monma, Katsuhisa, Ogata, Keita, Kakuda, Hideki, Mochizuki, Takeo, Arai, Manabu, Araki, Takeshi, Fujii, Kazuto, Tsukita, Haruhi, Sakamaki-Tsukita, Akira, Sano
Publikováno v:
Neurology: Genetics
Objective To identify mutations in vacuolar protein sorting 13A (VPS13A) for Japanese patients with suspected chorea-acanthocytosis (ChAc). Methods We performed a comprehensive mutation screen, including sequencing and copy number variation (CNV) ana
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::73304f1eea3a125cb07b05e3aa847e05
https://pubmed.ncbi.nlm.nih.gov/31192303
https://pubmed.ncbi.nlm.nih.gov/31192303
Autor:
Masako Watanabe, Kenji Yoshida, Kazuto Tsukita, Noritaka Wakasugi, Hideki Mochizuki, Ryouichi Okiyama, Yasushi Osaki, Atsushi Hara, Kiyomi Yamane, Katsuhisa Ogata, Kotaro Sakurai, Kei Kasamo, Yuka Urata, Kazunari Monma, Ken Shibano, Yukari Morita, Takehiro Ueda, Yuji Saitoh, Hanae Hiwatashi, Manabu Araki, Yuji Takahashi, Natsuki Miyakoshi, Masahiro Mizobuchi, Keita Kakuda, Akira Sano, Masayuki Nakamura, Haruhi Sakamaki-Tsukita, Takashi Sakamoto, Takeo Arai, Yoshiaki Nishida, Izumi Yokoyama, Takeshi Fujii, Hideki Tokuoka
Publikováno v:
Neurology Genetics. 5(3):e332-e332
ObjectiveTo identify mutations in vacuolar protein sorting 13A (VPS13A) for Japanese patients with suspected chorea-acanthocytosis (ChAc).MethodsWe performed a comprehensive mutation screen, including sequencing and copy number variation (CNV) analys
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a51e7aaa2b19ba7c02f702d9d25c2ea2
https://hdl.handle.net/20.500.14094/90006874
https://hdl.handle.net/20.500.14094/90006874
Publikováno v:
Journal of the Neurological Sciences. 381:1095
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9be17dec099b5ad85d972ac8295479fc
https://doi.org/10.1016/j.jns.2017.08.3090
https://doi.org/10.1016/j.jns.2017.08.3090
Autor:
Hideki Tokuoka, Reiko Sugiura, Kazuki Ohta, Tsutomu Suzuki, Akiko Noma, Rieko Ohte, Yan Ma, Satoshi Tsutsumi, Takayoshi Kuno
Publikováno v:
The Journal of biological chemistry. 282(46)
Inosine (I) at position 34 (wobble position) of tRNA is formed by the hydrolytic deamination of a genomically encoded adenosine (A). The enzyme catalyzing this reaction, termed tRNA A:34 deaminase, is the heterodimeric Tad2p/ADAT2.Tad3p/ADAT3 complex
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e667132ebae0bc9b35081e60a377dd2
https://pubmed.ncbi.nlm.nih.gov/17875641
https://pubmed.ncbi.nlm.nih.gov/17875641
Autor:
Tsutsumi, Satoshi1, Sugiura, Reiko2, Yan Ma1, Hideki Tokuoka1, Kazuki Ohta1, Rieko Ohte1, Akiko Noma3, Suzuki, Tsutomu3, Kuno, Takayoshi1 tkuno@med.kobe-u.ac.jp
Publikováno v:
Journal of Biological Chemistry. 11/16/2007, Vol. 282 Issue 46, p33459-33465. 7p. 4 Diagrams, 1 Chart, 2 Graphs.