Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Tatsuharu Sato"'
Autor:
Akinori Nakamura, Tsuyoshi Matsumura, Katsuhisa Ogata, Madoka Mori‐Yoshimura, Eri Takeshita, Koichi Kimura, Takahiro Kawashima, Yui Tomo, Hajime Arahata, Daigo Miyazaki, Yasuhiro Takeshima, Toshiaki Takahashi, Keiko Ishigaki, Satoshi Kuru, Akiko Wakisaka, Hiroyuki Awano, Michinori Funato, Tatsuharu Sato, Yoshiaki Saito, Hiroto Takada, Kazuma Sugie, Michio Kobayashi, Shiro Ozasa, Tatsuya Fujii, Yoshihiro Maegaki, Hideki Oi, Hisateru Tachimori, Hirofumi Komaki
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 12, Pp 2360-2372 (2023)
Abstract Objective Becker muscular dystrophy (BMD) is a milder variant of Duchenne muscular dystrophy (DMD), a lethal X‐linked muscular disorder. Here, we aim to investigat the clinical involvement of skeletal, respiratory, cardiac, and central ner
Externí odkaz:
https://doaj.org/article/a987e5299b4d4ea4ad7e57127afced9b
Autor:
Hiroshi Sakuma, Jun-ichi Takanashi, Kazuhiro Muramatsu, Hidehito Kondo, Takashi Shiihara, Motomasa Suzuki, Kazuo Okanari, Mariko Kasai, Osamu Mitani, Tomoyuki Nakazawa, Taku Omata, Konomi Shimoda, Yuichi Abe, Yoshihiro Maegaki, Kei Murayama, Yuka Murofushi, Hiroaki Nagase, Akihisa Okumura, Yasunari Sakai, Hiroko Tada, Masashi Mizuguchi, Japanese Pediatric Neuro-COVID-19 Study Group, Tsuyoshi Matsuoka, Hiroshi Oakada, Tatsuharu Sato, Kenjiro Kikuchi, Satoshi Akamine, Nanako Kawata, Shinichiro Morichi, Hideyuki Iwayama, Ryuta Tanaka, Yoshiyuki Hanaoka, Yuki Minamisawa, Tatsuya Ema, Mitsuo Motobayashi, Tomoshiro Ito, Fumikazu Sano
Publikováno v:
Frontiers in Neuroscience, Vol 17 (2023)
Background and objectivesTo clarify whether severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection cause acute encephalopathy in children and which are the most common syndromes that cause them and what are the outcomes.MethodsA natio
Externí odkaz:
https://doaj.org/article/d27b86d3fea846ce99dd9d7559309e79
Autor:
Philip Harrer, Audrey Schalk, Masaru Shimura, Sarah Baer, Nadège Calmels, Marie Aude Spitz, Marie‐Thérèse Abi Warde, Elise Schaefer, Volker M.Sc Kittke, Yasemin Dincer, Matias Wagner, Ivana Dzinovic, Riccardo Berutti, Tatsuharu Sato, Toshihiko Shirakawa, Yasushi Okazaki, Kei Murayama, Konrad Oexle, Holger Prokisch, Volker Mall, Ivo Melčák, Juliane Winkelmann, Michael Zech
Publikováno v:
Ann. Neurol. 93, 330-335 (2023)
Infantile striatonigral degeneration is caused by a homozygous variant of the nuclear-pore complex (NPC) gene NUP62, involved in nucleo-cytoplasmic trafficking. By querying sequencing-datasets of patients with dystonia and/or Leigh(-like) syndromes,
Autor:
Mariko Okubo, Satoru Noguchi, Tomonari Awaya, Motoyasu Hosokawa, Nobue Tsukui, Megumu Ogawa, Shinichiro Hayashi, Hirofumi Komaki, Madoka Mori-Yoshimura, Yasushi Oya, Yuji Takahashi, Tetsuhiro Fukuyama, Michinori Funato, Yousuke Hosokawa, Satoru Kinoshita, Tsuyoshi Matsumura, Sadao Nakamura, Azusa Oshiro, Hiroshi Terashima, Tetsuro Nagasawa, Tatsuharu Sato, Yumi Shimada, Yasuko Tokita, Masatoshi Hagiwara, Katsuhisa Ogata, Ichizo Nishino
Dystrophinopathy is caused by alterations in DMD. Approximately 1% of patients remain genetically undiagnosed because intronic variations are not detected by standard methods. Here, we combined laboratory and in silico analyses to identify disease-ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9aae276abc71be95b910a4bbc1700357
https://doi.org/10.21203/rs.3.rs-1772868/v1
https://doi.org/10.21203/rs.3.rs-1772868/v1
Autor:
Mariko Okubo, Satoru Noguchi, Tomonari Awaya, Motoyasu Hosokawa, Nobue Tsukui, Megumu Ogawa, Shinichiro Hayashi, Hirofumi Komaki, Madoka Mori-Yoshimura, Yasushi Oya, Yuji Takahashi, Tetsuhiro Fukuyama, Michinori Funato, Yousuke Hosokawa, Satoru Kinoshita, Tsuyoshi Matsumura, Sadao Nakamura, Azusa Oshiro, Hiroshi Terashima, Tetsuro Nagasawa, Tatsuharu Sato, Yumi Shimada, Yasuko Tokita, Masatoshi Hagiwara, Katsuhisa Ogata, Ichizo Nishino
Publikováno v:
Human Genetics
Human Genetics, 2022, ⟨10.1007/s00439-022-02485-2⟩
Human Genetics, 2022, ⟨10.1007/s00439-022-02485-2⟩
Dystrophinopathy is caused by alterations in DMD. Approximately 1% of patients remain genetically undiagnosed, because intronic variations are not detected by standard methods. Here, we combined laboratory and in silico analyses to identify disease-c
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:
Hiroyuki Moriuchi, Kohei Haraguchi, Naomichi Matsumoto, Kaoru Moriyama, Mitsuhiro Kato, Hirotomo Saitsu, Tatsuharu Sato
Publikováno v:
Brain and Development. 40:819-823
Background Tubulinopathies include a wide spectrum of disorders ranging from abnormal ocular movement to severe brain malformations, and typically present as diffuse agyria or perisylvian pachygyria with microcephaly, agenesis of the corpus callosum,
Autor:
Akiko Abe, Satoshi Tsurui, Soichiro Toda, Muneaki Matsuo, Hiroko Iwamatsu, Takuji Nakamura, Ayako Senju, Hidenori Tanaka, Takushi Inoue, Atsushi Kawaguchi, Ryutaro Kira, Tomomi Naitou, Kenji Furuno, Takafumi Sakakibara, Mitsuo Motobayashi, Marina Hashiguchi, Tatsuharu Sato, Naoya Higuchi, Nobuyoshi Sugiyama, Masami Togawa, Ken ichi Torii, Shigeki Ishii, Kazunari Takamura, Yuko Ichimiya, Fumio Ichinose
Publikováno v:
Braindevelopment. 44(1)
Objective To clarify the incidence and risk factors of acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) in pediatric patients with febrile status epilepticus (FSE). Methods We retrospectively surveyed patients with FSE (
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
Publikováno v:
Journal of the Japan Epilepsy Society. 35:710-714