Zobrazeno 1 - 10
of 51
pro vyhledávání: '"Shinji Saitoh"'
Autor:
Takeshi Suzuki, Yuji Ito, Tadashi Ito, Hiroyuki Kidokoro, Koji Noritake, Keita Tsujimura, Shinji Saitoh, Hiroyuki Yamamoto, Nobuhiko Ochi, Naoko Ishihara, Izumi Yasui, Hideshi Sugiura, Tomohiko Nakata, Jun Natsume
Publikováno v:
European Journal of Paediatric Neurology. 42:15-21
Objectives: Ataxic-rigid gait is a characteristic gait pathology in patients with Rett syndrome (RTT). In the present study, we aimed to quantitatively evaluate gait pathology in patients with RTT using three-dimensional gait analysis (3DGA). Methods
Autor:
Kosuke Yamamoto, Kei Ohashi, Masanori Fujimoto, Daisuke Ieda, Yuji Nakamura, Ayako Hattori, Tadashi Kaname, Kuniko Ieda, Ichizo Nishino, Shinji Saitoh
Publikováno v:
Brain and Development. 44:578-582
Autor:
Atsuko Ohno, Akihisa Okumura, Tatsuya Fukasawa, Tomohiko Nakata, Motomasa Suzuki, Masaharu Tanaka, Yu Okai, Yuji Ito, Hiroyuki Yamamoto, Takeshi Tsuji, Hiroyuki Kidokoro, Shinji Saitoh, Jun Natsume
Publikováno v:
Brain and Development. 44:221-228
Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a common type of acute encephalopathy in Japan; the condition is clinically characterized by prolonged seizures as the initial neurological symptom, followed by late sei
Autor:
Kouji Isobe, Daisuke Ieda, Fuyuki Miya, Rieko Miyachi, Shiomi Otsuji, Masami Asai, Tatsuhiko Tsunoda, Kenjiro Kosaki, Ayako Hattori, Shinji Saitoh, Mihoko Mizuno
Publikováno v:
Brain and Development. 44:249-253
Autor:
Michael D. Healy, Kerrie E. McNally, Rebeka Butkovic, Molly Chilton, Kohji Kato, Joanna Sacharz, Calum McConville, Edmund R.R. Moody, Shrestha Shaw, Vicente J. Planelles-Herrero, Sathish K.N. Yadav, Jennifer Ross, Ufuk Borucu, Catherine S. Palmer, Kai-En Chen, Tristan I. Croll, Ryan J. Hall, Nikeisha J. Caruana, Rajesh Ghai, Thi H.D. Nguyen, Kate J. Heesom, Shinji Saitoh, Imre Berger, Christiane Schaffitzel, Tom A. Williams, David A. Stroud, Emmanuel Derivery, Brett M. Collins, Peter J. Cullen
SUMMARYThe Commander complex is required for endosomal recycling of diverse transmembrane cargos and is mutated in Ritscher-Schinzel syndrome. It comprises two subassemblies; Retriever composed of VPS35L, VPS26C and VPS29, and the CCC complex which c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23d210a5342199c943249b9d1af8c0d6
https://doi.org/10.2139/ssrn.4330804
https://doi.org/10.2139/ssrn.4330804
Autor:
Takashi Shima, Tadamune Kinjo, Sungyeon Park, Takeshi Kusuda, Nobuhiko Kan, Yuzo Kitadai, Naoyuki Nakanami, Motoshi Sonoda, Ikumi Hori, Shinji Saitoh, Kiyomi Tsukimori
Publikováno v:
SSRN Electronic Journal.
Autor:
Michael D. Healy, Kerrie E. McNally, Rebeka Butkovič, Molly Chilton, Kohji Kato, Joanna Sacharz, Calum McConville, Edmund R.R. Moody, Shrestha Shaw, Vicente J. Planelles-Herrero, Sathish K.N. Yadav, Jennifer Ross, Ufuk Borucu, Catherine S. Palmer, Kai-En Chen, Tristan I. Croll, Ryan J. Hall, Nikeisha J. Caruana, Rajesh Ghai, Thi H.D. Nguyen, Kate J. Heesom, Shinji Saitoh, Imre Berger, Christiane Schaffitzel, Tom A. Williams, David A. Stroud, Emmanuel Derivery, Brett M. Collins, Peter J. Cullen
Publikováno v:
Cell. 186:2219-2237.e29
Autor:
Hiroaki Taniguchi, Atsushi Ishida, Yutaka Negishi, Yusuke Aoki, Takeshi Arakawa, Mitsuko Nakashima, Kazushi Yasuda, Kazuya Itomi, Shinji Saitoh, Hirotomo Saitsu, Sachiko Miyamoto
Publikováno v:
Brain and Development. 43:804-808
Introduction SCN8A-related epilepsy has various phenotypes. In particular, patients with developmental and epileptic encephalopathy (DEE) are resistant to antiepileptic drugs and may present with autonomic symptoms, such as marked bradycardia and apn
Autor:
Shogo Ito, Minoru Kokubo, Daisuke Ieda, Kohei Aoyama, Ikumi Hori, Shinji Saitoh, Yuji Nakamura, Seimi Ebe, Kei Ohashi, Ayako Hattori
Publikováno v:
Brain and Development. 43:590-595
Introduction Aminoacyl-tRNA synthetase-interacting multifunctional protein 1 (AIMP1) is a non-catalytic component of the multi-tRNA synthetase complex that catalyzes the ligation of amino acids to their correct tRNAs. Bi-allelic truncating variants i
Autor:
Yusuke Okuno, Shinji Saitoh, Noriko Nagai, Taichi Kato, Hidenori Yamamoto, Yoshiyuki Takahashi, Kohji Kato, Satoshi Hayano, Atsuto Onoda, Yoshie Fukasawa
Publikováno v:
International Journal of Cardiology. 326:81-87
Background A gain-of-function mutation in germline ABL1 causes a syndrome including congenital heart defects. However, the molecular mechanisms of this syndrome remain unknown. In this study, we found a novel ABL1 mutation in a Japanese family with v