Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Shinji Saitoh"'
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:
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:
Tadashi Kaname, Shinji Saitoh, Naoya Yamaguchi, Kohji Kato, Ayako Hattori, Kyoko Ban, Yuji Nakamura, Atsushi Suzuki, Yusuke Okuno, Yoshiyuki Takahashi, Hideki Muramatsu
Publikováno v:
Brain and Development. 42:298-301
Mucolipidosis type IV (MLIV) is a rare lysosomal storage disorder causing severe psychomotor developmental delay and progressive visual impairment. MLIV is an autosomal recessive disease caused by mutations in MCOLN1, which encodes for mucolipin-1. H
Autor:
Hisashi Kawawaki, Ichiro Kuki, Megumi Nukui, Shinji Saitoh, Takeshi Inoue, Masataka Fukuoka, Yuji Nakamura, Kiyohiro Kim, Aya Hashimoto, Shin Okazaki
Publikováno v:
Brain and Development. 41:625-629
Background Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy and Sensorineural hearing loss (CAPOS) syndrome is a known ATP1A3-related disorder, but little has been elucidated regarding its pathophysiology. We now report two new patients, a Japa
Autor:
Yuki Ueda, Shinji Saitoh, Fumiya Takeuchi, Kayoko Takahashi, Hiroshi Otsubo, Hideaki Shiraishi, Kazuyori Yagyu, Tomoshiro Ito, Yumi Takahashi, Shingo Nakane, Shinobu Kohsaka
Publikováno v:
Brain and Development. 37:237-242
Purpose : We evaluated whether magnetoencephalography (MEG), in addition to surgery, was valuable for the diagnosis and management of epileptic syndromes in patients with neocortical epilepsy (NE). Methods : We studied MEG in 73 patients (29 females;
Autor:
Tohru Shiga, Shinji Saitoh, Hideaki Shiraishi, Akira Sudo, Masakazu Fukuhara, Naoko Asahina, Kyoko Takano, Maki Okajima, Shinobu Kohsaka
Publikováno v:
Brain and Development. 29:529-533
Landau-Kleffner syndrome (LKS) is a childhood disorder of unknown etiology characterized by an acquired aphasia and epilepsy. We have performed comprehensive neurofunctional studies on an 8-year-old girl with typical LKS, with the aim of identifying
Autor:
Tomihiro Imai, Yuki Ueda, Kazuyori Yagyu, Tomoshiro Itoh, Tetsuro Nagashima, Yumi Takahashi, Shinji Saitoh, Masakatsu Motomura, Masanori Nakanishi, Minako Sugiyama, Hideaki Shiraishi, Yukayo Ukeba-Terashita
Publikováno v:
Brain and Development. 34:784-786
Anti-muscle-specific tyrosine kinase antibody (MuSK-Ab) is the second most frequent autoantibody identified in adult patients with myasthenia gravis (MG). Adult patients with MuSK-Ab demonstrate characteristic clinical features but very little inform