Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Shinji Saitoh"'
Autor:
Sachiko Iwata, Shin Kato, Tadashi Hisano, Yuko Mizutani, Osuke Iwata, Satoko Fukaya, Yung Chieh Lin, Koya Kawase, Shinji Saitoh, Masahiro Kinoshita
Publikováno v:
Pediatrics and Neonatology, Vol 62, Iss, Pp S10-S15 (2021)
Despite the increased survival opportunities for extremely preterm infants, their long-term cognitive outcomes remain poor, with increased incidence of cognitive impairments in childhood and reduced opportunities to attend higher education in young a
Autor:
Akihisa Okumura, Chikako Ogawa, Tetsuo Kubota, Hirokazu Kurahashi, Yuji Ito, Shunsuke Ogaya, Shinji Saitoh, Ayako Hattori, Motomasa Suzuki, Takeshi Tsuji, Naoko Ishihara, Hiroyuki Kidokoro, Jun Natsume, Tatsuya Fukasawa
Publikováno v:
Pediatric Neurology. 109:79-84
Objective To investigate clinical risk factors for acute magnetic resonance imaging (MRI) abnormalities in patients with benign convulsions with mild gastroenteritis or benign infantile epilepsy. Study design We investigated clinical and diffusion-we
Autor:
Shinji Saitoh, Mitsuhiro Kato, Nobuhiko Okamoto, Mami Yamasaki, Yonehiro Kanemura, Fuyuki Miya, Tatsuhiko Tsunoda, Kenjiro Kosaki
Publikováno v:
American Journal of Medical Genetics Part A. 173:1644-1648
We identified a novel mutation in ASH1L in a patient with severe intellectual disability, growth failure, microcephaly, facial dysmorphism, myelination delay, and skeletal abnormalities. ASH1L is a histone methyltransferase that associates with the t
Autor:
Ayako Hattori, Kei Murayama, Shinji Saitoh, Atsuko Kori, Tatsushi Tanaka, Kyoko Ban, Ikumi Hori, Yasushi Okazaki, Kohei Aoyama, Koichi Ito
Publikováno v:
Braindevelopment. 41(9)
An m.10158T>C mutation in MT-ND3, encoding a subunit of respiratory complex I, causes early-onset Leigh syndrome (LS), mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS) syndrome, and LS and MELAS overlapping syndrome,
Autor:
Yonehiro Kanemura, Mitsuhiro Kato, Ikumi Hori, Mami Yamasaki, Shinji Saitoh, Yutaka Negishi, Fuyuki Miya, Kenjiro Kosaki, Nobuhiko Okamoto, Tatsuhiko Tsunoda, Ayako Hattori, Koji Kato, Kei Ohashi, Daisuke Ieda
Publikováno v:
Journal of Human Genetics. 62:861-863
We identified a novel de novo heterozygous missense mutation in the NEDD4L gene (NM_015277: c.2617G>A; p.Glu873Lys) through whole-exome sequencing in a 3-year-old girl showing severe global developmental delay, infantile spasms, cleft palate, periven
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:
Konomi Shimoda, Tomohiro Morio, Fuyuki Miya, Jun Tohyama, Mami Yamasaki, Tatsuhiko Tsunoda, Yutaka Nonoda, Ikumi Hori, Shinichi Magara, Takanobu Otomo, Kenjiro Kosaki, Tamotsu Yoshimori, Mitsuhiro Kato, Hideaki Shiraishi, Motoo Nakagawa, Ichizo Nishino, Yonehiro Kanemura, Takeshi Kumagai, Hirotomo Saitsu, Ayako Hattori, Naoki Ando, Mitsuko Nakashima, Shinji Saitoh, Nobuhiko Okamoto, Naomichi Matsumoto, Yoshiya Yukitake, Yutaka Negishi, Daigo Kajikawa
Publikováno v:
Scientific Reports
Scientific Reports, Vol 7, Iss 1, Pp 1-11 (2017)
Scientific Reports, Vol 7, Iss 1, Pp 1-11 (2017)
Vici syndrome (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, combined immunodeficiency, developmental delay, and hypopigment
Autor:
Hitoshi Sato, Ayako Hiraiwa-Sofue, Mitsugu Uematsu, Tetsuo Kubota, Jun Tohyama, Iori Ohmori, Akihisa Okumura, Megumi Tsuji, Akira Sudo, Tohru Okanishi, Misako Naiki, Shinji Saitoh, Toshiaki Shimizu, George Imataka, Manabu Tanaka
Publikováno v:
Epilepsia. 53:79-86
Summary Purpose: The occurrence of acute encephalopathy in children with Dravet syndrome has been reported sporadically. This study clarified the features of acute encephalopathy in children with Dravet syndrome. Methods: Through the mailing list of
Publikováno v:
The Journal of Laryngology & Otology. 125:1282-1285
Objective:We present a patient with mitochondrial hearing loss and a novel mitochondrial DNA transition, who underwent successful cochlear implantation.Case report:An 11-year-old girl showed epilepsy and progressive hearing loss. Despite the use of h
Autor:
Masakazu Nakamura, Hiroaki Yaguchi, Ichiro Yabe, Kana Hosoki, Hidenao Sasaki, Akira Sudo, Shinji Saitoh
Publikováno v:
Journal of Medical Genetics. 47:659-664
Background : Myoclonic epilepsy with ragged-red fibres (MERRF) and mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) are established phenotypes of mitochondrial encephalomyopathy. The m.8356T>C transition in the mitochond