Zobrazeno 1 - 10
of 63
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:
Sachiko Iwata, Reiji Katayama, Kennosuke Tsuda, Yung‐Chieh Lin, Tsuyoshi Kurata, Masahiro Kinoshita, Koya Kawase, Takenori Kato, Shin Kato, Tadashi Hisano, Motoki Oda, Etsuko Ohmae, Sachio Takashima, Yuko Araki, Shinji Saitoh, Osuke Iwata
Publikováno v:
Annals of Clinical and Translational Neurology. 9:1417-1427
MRI provides useful information regarding brain maturation and injury in newborn infants. However, MRI studies are generally restricted during acute phase, resulting in uncertainty around upstream clinical events responsible for subtle cerebral injur
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:
Tadashi Kaname, Mitsuhiro Kato, Fuyuki Miya, Tatsuhiko Tsunoda, Nobuhiko Okamoto, Kumiko Yanagi, Yonehiro Kanemura, Shinji Saitoh, Kenjiro Kosaki
Publikováno v:
Neurological Sciences. 43:2765-2774
Aminoacyl tRNA synthetases (ARSs) are highly conserved enzymes that link amino acids to their cognate tRNAs. Thirty-seven ARSs are known and their deficiencies cause various genetic disorders. Variants in some ARSs are associated with the autosomal d
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:
Masashi Ogasawara, Shinji Saitoh, Yukako Nishimori, Shinichiro Hayashi, Aritoshi Iida, Satoru Noguchi, lchizo Nishino
Publikováno v:
Neuromuscular Disorders. 32:845-846
Autor:
Akiko Tamasaki, Ikumi Hori, Masayoshi Oguri, Hiroyuki Yamada, Yoshihiro Maegaki, Shinji Saitoh
Publikováno v:
Yamada Hiroyuki, Tamasaki Akiko, Oguri Masayoshi, et al. Frequent epileptic apnoea in a patient with Pitt-Hopkins syndrome. EPILEPTIC DISORDERS. 2020. 22(5). 673-677. doi:10.1684/epd.2020.1212
Pitt-Hopkins syndrome is a rare genetic disease, characterised by severe intellectual disability, distinctive dysmorphic features, epilepsy and distinctive breathing abnormalities during wakefulness. Here, we describe the case of a 22-year-old woman