Zobrazeno 1 - 10
of 49
pro vyhledávání: '"Mizue Iai"'
Autor:
Atsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu, Takeshi Mizuguchi, Satomi Mitsuhashi, Yukitoshi Takahashi, Nobuhiko Okamoto, Hitoshi Osaka, Kazuyuki Nakamura, Jun Tohyama, Kazuhiro Haginoya, Saoko Takeshita, Ichiro Kuki, Tohru Okanishi, Tomohide Goto, Masayuki Sasaki, Yasunari Sakai, Noriko Miyake, Satoko Miyatake, Naomi Tsuchida, Kazuhiro Iwama, Gaku Minase, Futoshi Sekiguchi, Atsushi Fujita, Eri Imagawa, Eriko Koshimizu, Yuri Uchiyama, Kohei Hamanaka, Chihiro Ohba, Toshiyuki Itai, Hiromi Aoi, Ken Saida, Tomohiro Sakaguchi, Kouhei Den, Rina Takahashi, Hiroko Ikeda, Tokito Yamaguchi, Kazuki Tsukamoto, Shinsaku Yoshitomi, Taikan Oboshi, Katsumi Imai, Tomokazu Kimizu, Yu Kobayashi, Masaya Kubota, Hirofumi Kashii, Shimpei Baba, Mizue Iai, Ryutaro Kira, Munetsugu Hara, Masayasu Ohta, Yohane Miyata, Rie Miyata, Jun-ichi Takanashi, Jun Matsui, Kenji Yokochi, Masayuki Shimono, Masano Amamoto, Rumiko Takayama, Shinichi Hirabayashi, Kaori Aiba, Hiroshi Matsumoto, Shin Nabatame, Takashi Shiihara, Mitsuhiro Kato, Naomichi Matsumoto
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)
Many causative genes are known for epileptic or developmental and epileptic encephalopathies (EE/DEE) yet a genetic diagnosis cannot be made for many patients. Here, the authors analyse whole exome sequencing data from a Japanese case−control cohor
Externí odkaz:
https://doaj.org/article/16a9920cc8234e80bb6236676c9ac817
Autor:
Azusa Ikeda, Ayako Yamamoto, Kazushi Ichikawa, Yu Tsuyusaki, Megumi Tsuji, Mizue Iai, Yumi Enomoto, Hiroaki Murakami, Kenji Kurosawa, Satoko Miyatake, Naomichi Matsumoto, Tomohide Goto
Publikováno v:
Epilepsy & Behavior Reports, Vol 13, Iss , Pp - (2020)
Christianson syndrome (CS) is an X-linked intellectual disorder caused by mutations in the SLC9A6 gene. Clinical features of CS include an inability to speak, truncal ataxia, postnatal microcephaly, hyperkinesis, and epilepsy. Almost all patients wit
Externí odkaz:
https://doaj.org/article/797d83e4556444019692f0d1e6f1f55c
Autor:
Hiroko Shimbo, Mariko Takagi, Mitsuko Okuda, Yu Tsuyusaki, Kyoko Takano, Mizue Iai, Sumimasa Yamashita, Kei Murayama, Akira Ohtake, Yu-ichi Goto, Noriko Aida, Hitoshi Osaka
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 133-138 (2014)
Large numbers of genes are responsible for Leigh syndrome (LS), making genetic confirmation of LS difficult. We screened our patients with LS using a limited set of 21 primers encompassing the frequently reported gene for the respiratory chain comple
Externí odkaz:
https://doaj.org/article/0d4c921bb06e4469a5d305eaf92eb63b
Autor:
Kazuhiro Ogata, Naomi Tsuchida, Mizue Iai, Kazunori Sasaki, Atsushi Fujita, Atsushi Sugie, Takeshi Mizuguchi, Masataka Taguri, Naomichi Matsumoto, Satoko Miyatake, Eriko Koshimizu, Kohei Hamanaka, Nobuhiko Okamoto, Semra Gürsoy, Kazuhiro Iwama, Tetsuaki Kimura, Tayfun Cinleti, Shuuichi Ito, Hidehisa Takahashi, Yuri Uchiyama, Atsushi Suzuki, Noriko Miyake, Masamune Sakamoto, Yohei Nitta, Toru Sengoku
Publikováno v:
Human Molecular Genetics. 31:69-81
An optimal Golgi transport system is important for mammalian cells. The adenosine diphosphate (ADP) ribosylation factors (ARF) are key proteins for regulating cargo sorting at the Golgi network. In this family, ARF3 mainly works at the trans-Golgi ne
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d0d00c95e29a510662829652a0c4a0d
https://doi.org/10.1093/hmg/ddab224
https://doi.org/10.1093/hmg/ddab224
Autor:
Masamune Sakamoto, Kazuhiro Iwama, Masayuki Sasaki, Akihiko Ishiyama, Hirofumi Komaki, Takashi Saito, Eri Takeshita, Yuko Shimizu-Motohashi, Kazuhiro Haginoya, Tomoko Kobayashi, Tomohide Goto, Yu Tsuyusaki, Mizue Iai, Kenji Kurosawa, Hitoshi Osaka, Jun Tohyama, Yu Kobayashi, Nobuhiko Okamoto, Yume Suzuki, Satoko Kumada, Kenji Inoue, Hideaki Mashimo, Atsuko Arisaka, Ichiro Kuki, Harumi Saijo, Kenji Yokochi, Mitsuhiro Kato, Yuji Inaba, Yuko Gomi, Shinji Saitoh, Kentaro Shirai, Masafumi Morimoto, Yuishin Izumi, Yoriko Watanabe, Shin-ichiro Nagamitsu, Yasunari Sakai, Shinobu Fukumura, Kazuhiro Muramatsu, Tomomi Ogata, Keitaro Yamada, Keiko Ishigaki, Kyoko Hirasawa, Konomi Shimoda, Manami Akasaka, Kosuke Kohashi, Takafumi Sakakibara, Masashi Ikuno, Noriko Sugino, Takahiro Yonekawa, Semra Gürsoy, Tayfun Cinleti, Chong Ae Kim, Keng Wee Teik, Chan Mei Yan, Muzhirah Haniffa, Chihiro Ohba, Shuuichi Ito, Hirotomo Saitsu, Ken Saida, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Atsushi Fujita, Kohei Hamanaka, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Noriko Miyake, Naomichi Matsumoto
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 24(12)
Cerebellar hypoplasia and atrophy (CBHA) in children is an extremely heterogeneous group of disorders, but few comprehensive genetic studies have been reported. Comprehensive genetic analysis of CBHA patients may help differentiating atrophy and hypo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2de0565eb6ff84cd751bf7022649d2bd
https://pubmed.ncbi.nlm.nih.gov/36305856
https://pubmed.ncbi.nlm.nih.gov/36305856
Autor:
Mizue Iai, Mio Tanaka, Yukichi Tanaka, Azusa Ikeda, Yu Tsuyusaki, Megumi Tsuji, Tomohide Goto
Publikováno v:
Neuropediatrics. 51:298-301
Patients with infantile Alexander disease (AxD) usually do not survive beyond their early teens without life support care because of progressive central hypoventilation. We present the autopsy report of a woman with infantile AxD carrying an R239C mu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::884a0d5108a2543cfb5e4a16a4a96bfd
https://doi.org/10.1055/s-0040-1705172
https://doi.org/10.1055/s-0040-1705172
Publikováno v:
Pediatrics International. 63:352-354
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4493d331c86b9e9ffeeefa6c39fd0fa0
https://doi.org/10.1111/ped.14427
https://doi.org/10.1111/ped.14427
Autor:
Sumimasa Yamashita, Moe Tamaura, Tomohide Goto, Noriko Aida, Mizue Iai, Janyerkye Tulyeu, Etsuro Tokuhiro, Hitoshi Osaka, Eriko F. Jimbo, Hiroko Shimbo, Takanori Yamagata, Kyoko Takano
Publikováno v:
Brain and Development. 41:195-200
Alexander disease (AxD) is a neurodegenerative disease in astrocytes caused by a mutation in the gene encoding glial fibrillary acidic protein, GFAP. We herein present the case of a 12-year-old girl who showed intermittent exotropia at 3 years of age
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6ca62872e7ab0ef424992451ad4e233e
https://doi.org/10.1016/j.braindev.2018.08.009
https://doi.org/10.1016/j.braindev.2018.08.009
Publikováno v:
Pediatrics international : official journal of the Japan Pediatric SocietyReferences. 64(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::faafa8988984aed9454fc9e1708388d6
https://pubmed.ncbi.nlm.nih.gov/34708892
https://pubmed.ncbi.nlm.nih.gov/34708892
Autor:
Azusa Ikeda, Moyoko Tomiyasu, Ayako Yamamoto, Yu Tsuyusaki, Yasuhiro Kawai, Masahiko Tanabe, Megumi Tsuji, Mizue Iai, Noriko Aida, Tomohide Goto
Publikováno v:
Epilepsy Research. 181:106881
Vigabatrin (VGB) is an effective antiseizure medication for West syndrome. It works by irreversibly inhibiting gamma-aminobutyric acid (GABA) transaminase and increasing central GABA levels. Vigabatrin-associated brain abnormalities on magnetic reson
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ec84ea9b283af3a6973d0438c597450
https://doi.org/10.1016/j.eplepsyres.2022.106881
https://doi.org/10.1016/j.eplepsyres.2022.106881