Zobrazeno 1 - 10
of 75
pro vyhledávání: '"Hiroyuki Torisu"'
Autor:
Yui Takada, Yasunari Sakai, Yuki Matsushita, Kazuhiro Ohkubo, Yuhki Koga, Satoshi Akamine, Michiko Torio, Yoshito Ishizaki, Masafumi Sanefuji, Hiroyuki Torisu, Chad A. Shaw, Masayo Kagami, Toshiro Hara, Shouichi Ohga
Publikováno v:
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-5 (2017)
Abstract Background Wilms tumor, aniridia, genitourinary anomalies and mental retardation (WAGR) syndrome is a rare genetic disorder caused by heterozygous deletions of WT1 and PAX6 at chromosome 11p13. Deletion of BDNF is known eto be associated wit
Externí odkaz:
https://doaj.org/article/83fab81d656f40b4bc89e9eb3321c438
Autor:
Kazuna Goto, Masafumi Sanefuji, Koichi Kusuhara, Yorihiro Nishimura, Hiroyuki Shimizu, Ryutaro Kira, Hiroyuki Torisu, Toshiro Hara
Publikováno v:
Emerging Infectious Diseases, Vol 15, Iss 10, Pp 1689-1691 (2009)
Externí odkaz:
https://doaj.org/article/0543390a00f64c64b9c3a94b59a9b429
Autor:
Yuko Ichimiya, Pin Fee Chong, Yuri Sonoda, Vlad Tocan, Mitsuru Watanabe, Hiroyuki Torisu, Ryutaro Kira, Toshiyuki Takahashi, Jun-Ichi Kira, Noriko Isobe, Yasunari Sakai, Shouichi Ohga
Publikováno v:
European Journal of Pediatrics.
Autor:
Yoshie Tanaka, Keiko Tanaka, Yasushi Shigeri, Yasunari Sakai, Hiroshi Sakuma, Ichiro Nakashima, Hiroshi Tamai, Kohji Azumagawa, Shuichi Shimakawa, Hideto Nakajima, Kimihiko Kaneko, Hiroyuki Torisu, Ryutaro Kira
Publikováno v:
Brain and Development. 43:705-713
Objective To elucidate the clinical characteristics of Japanese pediatric patients with acquired demyelinating diseases (ADS), positive for myelin oligodendrocyte glycoprotein antibody (MOG-IgG), we conducted a nation-wide survey. Methods Information
Autor:
Mari Asaoka, Tetsuhiro Fukuyama, Naohisa Kawamura, Tamami Yano, Takayoshi Kawabata, Kotaro Nakano, Eriko Kikuchi, Tomoyuki Miyamoto, Mika Inoue, Akihisa Okumura, Masato Hiyane, Etsushi Toyofuku, Yuichi Takami, Yusaku Endo, Keiko Tanaka-Taya, Nobuyoshi Sugiyama, Yu Tsuyusaki, Sawa Yasumoto, Keiko Suzuki, Nobuko Moriyama, Takako Fujita, Yasuhiro Suzuki, Eri Takeshita, Hitoshi Mikami, Yuichi Abe, Ryutaro Kira, Chiharu Miyatake, Hiroyuki Torisu, Akira Kumakura, Akane Kanazawa, Tatsuharu Sato, Yuya Takahashi, Hiroshi Terashima, Sonoko Kubota, Genrei Ohta, Mariko Kasai, Yu Ishida, Pin Fee Chong, Noboru Yoshida, Shinichiro Goto, Taira Toki, Ayako Hattori, Wakako Ishii, Kenichi Tanaka, Miho Yamamuro, Sahoko Ono, Yukihiko Konishi, Harushi Mori, Nozomi Koran, Kazuhide Ohta, Kenichi Sakajiri, Michiaki Nagura, Kyoko Ban
Publikováno v:
Pediatric Neurology. 116:14-19
We summarize the long-term motor outcome and disability level in a cluster of pediatric patients with acute flaccid myelitis (AFM) associated with the enterovirus D68 outbreak in 2015.This is a nationwide follow-up questionnaire analysis study. Clini
Autor:
Shouichi Ohga, Yuri Sonoda, Hirosuke Inoue, Kenichi Yamane, Yasunari Sakai, Yoshito Ishizaki, Ryoji Taira, Mariko Iwayama, Masayuki Ochiai, Toru Sawano, Michiko Torio, Hiroyuki Torisu, Toshiro Hara, Yuko Ichimiya, Ryutaro Kira, Shigenobu Kanba, Momoko Sasazuki, Kousuke Yonemoto, Hiroshi Yamashita, Masafumi Sanefuji
Publikováno v:
Neurol Clin Pract
ObjectivesTo determine the neurodevelopmental outcomes of very-low-birth-weight infants (VLBWIs, birth weight MethodsThis study prospectively recruited 224 VLBWIs born from 2003 to 2009 in Kyushu University Hospital, Japan. Comorbidities of neurocogn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19e5e1a06ee7befe8eaaf684b5288fd1
https://europepmc.org/articles/PMC8610512/
https://europepmc.org/articles/PMC8610512/
Autor:
Toshiyuki Yamamoto, Takuji Nishida, Hiroyuki Torisu, Akihisa Okumura, Akiko Haibara, Yukihiro Yuhara, Naoko Ishihara, Takeshi Inoue, Kazushi Miya, Jun Tohyama, Hirokazu Kurahashi, Shino Shimada, Ayako Hattori, Shinichi Hirose, Takafumi Sakakibara, Keiko Shimojima, Satoru Takahashi, Tetsuo Kubota, Atsushi Ishii, Shingo Numoto, Tomonari Awaya, Ryuta Tanaka, Iori Ohmori
Publikováno v:
Seizure. 71:1-5
Purpose This study was performed to clarify the clinical features of Japanese patients with PRRT2 mutations. Methods The PRRT2 gene was analyzed in 135 patients with benign infantile epilepsy (BIE) or paroxysmal kinesigenic dyskinesia (PKD) using a d
Autor:
Shouichi Ohga, Ryoko Fukai, Marie Noda, Sayaka Okuzono, Naomichi Matsumoto, Yasunari Sakai, Hiroyuki Torisu, Yoshito Ishizaki, Satoshi Akamine, Shunsuke Kanno, Ryutaro Kira, Noriyuki Kaku, Masafumi Sanefuji, Sooyoung Lee, Noriko Miyake
Publikováno v:
Brain and Development. 41:378-381
Background Cardio-facio-cutaneous syndrome (CFCS) is a rare genetic disorder characterized by cardiovascular anomalies, dysmorphic faces, ectodermal abnormalities and developmental delays. Mutations in BRAF and other RAS-MAPK pathway-associated genes
Autor:
Hiroyuki Torisu, Shouichi Ohga, Sawa Yasumoto, Harushi Mori, Keiko Tanaka-Taya, Acute Flaccid Myelitis Collaborative Study Investigators, Jun Kimura, Ryutaro Kira, Tatsuharu Sato, Pin Fee Chong, Akihisa Okumura
Publikováno v:
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology. 132(10)
Objective To summarize the neurophysiological properties of acute flaccid myelitis (AFM) and evaluate limb-based motor outcomes. Methods Nerve conduction studies (NCS) in 49 patients (21 females, 28 males; median age = 52 m) with AFM (median = 7 d af
Autor:
Nina Ekhilevitch, Takeshi Mizuguchi, Kazuyuki Nakamura, Masami Togawa, Kazuhiro Ogata, Naomichi Matsumoto, Asako Horino, Hirotomo Saitsu, Yukihiro Ikeda, Mai Satoh, Goni Merhav, Yasunari Sakai, Momoko Sasazuki, Fumiaki Tanaka, Hiroyuki Torisu, Hidehisa Takahashi, Hiroshi Doi, Toshiro Hara, Mazumi Miura, Takuma Kumamoto, Shouichi Ohga, Chiaki Ohtaka-Maruyama, Atsushi Takata, Takabumi Miyama, Mitsuhiro Kato, Masataka Fukuoka, Hideyuki Asai, Hideyuki Takeuchi, Tatsuhiko Tsunoda, Hiroko Ikeda, Takaaki Matsui, Atsushi Suzuki, Yushi Noguchi, Nobusuke Kimura, Keisuke Hamada, Mitsuko Nakashima, Eriko Koshimizu, Fuyuki Miya, Kohei Hamanaka, Noriko Miyake, Satoko Miyatake, Nodoka Hinokuma, Tomonori Hirose, Yoko Nishimura, Akio Yamashita, Kaoru Amemiya, Masaki Miura, Yuri Sonoda, Kazunori Sasaki
Publikováno v:
Science Advances
ATP1A3, a mutated gene for AHC, RDP, and CAPOS, is also associated with polymicrogyria by different functional variants.
Polymicrogyria is a common malformation of cortical development whose etiology remains elusive. We conducted whole-exome seq
Polymicrogyria is a common malformation of cortical development whose etiology remains elusive. We conducted whole-exome seq