大戸達之 (Tatsuyuki Ohto) - 論文

Variants in KIF2A cause broad clinical presentation; the computational structural analysis of a novel variant in a patient with a cortical dysplasia, complex, with other brain malformations 3

Hatano, Maiko, Fukushima, Hiroko, Ohto, Tatsuyuki, Ueno, Yuichi, Saeki, Saki, Enokizono, Takashi, Tanaka, Ryuta, Tanaka, Mai, Imagawa, Kazuo, Kanai, Yu, Kato, Mitsuhiro, Shiraku, Hiroshi, Suzuki, Hisato, Uehara, Tomoko, Takenouchi, Toshiki, Kosaki, Kenjiro, Takada, Hidetoshi

American journal of medical genetics. Part A 2021年1月

Association of Kabuki syndrome and tethered cord syndrome: a report of three cases and literature review

Muroi, Ai, Enokizono, Takashi, Tsurubuchi, Takao, Tsukada, Kazuaki, Ohto, Tatsuyuki, Ishikawa, Eiichi

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery Epub 2020年7月

Novel ARX mutation identified in infantile spasm syndrome patient

Yohei Takeshita, Tatsuyuki Ohto, Takashi Enokizono, Mai Tanaka, Hisato Suzuki, Hiroko Fukushima, Tomoko Uehara, Toshiki Takenouchi, Kenjiro Kosaki, Hidetoshi Takada

HUMAN GENOME VARIATION 7(1) 9 2020年3月査読有り

Quantitative assessment of fine motor skills in children using magnetic sensors

Enokizono, Takashi, Ohto, Tatsuyuki, Tanaka, Mai, Maruo, Kazushi, Sano, Yuko, Kandori, Akihiko, Takada, Hidetoshi

Brain & development 42(6) 421 - 430 2020年3月査読有り

A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2.

Saki Saeki, Takashi Enokizono, Kazuo Imagawa, Hiroko Fukushima, Daigo Kajikawa, Aiko Sakai, Mai Tanaka, Tatsuyuki Ohto, Hisato Suzuki, Tomoko Uehara, Toshiki Takenouchi, Kosaki Kenjiro, Hidetoshi Takada

Clinical case reports 7(11) 2059 - 2063 2019年11月査読有り

Feasibility and safety of Robot Suit HAL treatment for adolescents and adults with cerebral palsy.

Tomoyuki Ueno, Hiroki Watanabe, Hiroaki Kawamoto, Yukiyo Shimizu, Ayumu Endo, Tomoe Shimizu, Kimihisa Ishikawa, Hideki Kadone, Tatsuyuki Ohto, Hiroshi Kamada, Aiki Marushima, Yasushi Hada, Ai Muroi, Yoshiyuki Sankai, Eiichi Ishikawa, Akira Matsumura, Masashi Yamazaki

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 68 101 - 104 2019年10月

Feasibility and safety of Robot Suit HAL treatment for adolescents and adults with cerebral palsy.

Tomoyuki Ueno, Hiroki Watanabe, Hiroaki Kawamoto, Yukiyo Shimizu, Ayumu Endo, Tomoe Shimizu, Kimihisa Ishikawa, Hideki Kadone, Tatsuyuki Ohto, Hiroshi Kamada, Aiki Marushima, Yasushi Hada, Ai Muroi, Yoshiyuki Sankai, Eiichi Ishikawa, Akira Matsumura, Masashi Yamazaki

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 68 101 - 104 2019年10月査読有り

福山型先天性筋ジストロフィーの小児臨床像

田中, 磨衣, 大戸, 達之, 榎園, 崇, 田中, 竜太, 高田, 英俊

日本小児科学会雑誌 123(7) 1178 - 1182 2019年7月査読有り

A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay

Yuichi Ueno, Takashi Enokizono, Hiroko Fukushima, Tatsuyuki Ohto, Kazuo Imagawa, Mai Tanaka, Aiko Sakai, Hisato Suzuki, Tomoko Uehara, Toshiki Takenouchi, Kenjiro Kosaki, Hidetoshi Takada

HUMAN GENOME VARIATION 6 25 2019年5月査読有り

Development of the Japanese version of the State Behavioral Scale for critically ill children.

Haruhiko Hoshino, Hideaki Sakuramoto, Yujiro Matsuishi, Nobutake Shimojo, Yuki Enomoto, Tatsuyuki Ohto, Takahiro Kido, Akira Ouchi, Masahiko Sumitani, Satoru Kawano, Yoshiaki Inoue

Acute medicine & surgery 6(2) 101 - 108 2019年4月査読有り

A patient with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and severe hypoganglionosis associated with a novel SOX10 mutation

Yuko Akutsu, Kentaro Shirai, Akira Takei, Yudai Goto, Tomohiro Aoyama, Akimitu Watanabe, Masatoshi Imamura, Takashi Enokizono, Tatsuyuki Ohto, Tetsuo Hori, Keiko Suzuki, Masaharu Hayashi, Kouji Masumoto, Ken Inoue

American Journal of Medical Genetics, Part A 176(5) 1195 - 1199 2018年5月1日

Preaxial polydactyly in an individual with Wiedemann-Steiner syndrome caused by a novel nonsense mutation in KMT2A.

Takashi Enokizono, Tatsuyuki Ohto, Ryuta Tanaka, Mai Tanaka, Hisato Suzuki, Aiko Sakai, Kazuo Imagawa, Hiroko Fukushima, Atsushi Iwabuti, Takashi Fukushima, Ryo Sumazaki, Tomoko Uehara, Toshiki Takenouchi, Kenjiro Kosaki

American journal of medical genetics. Part A 173(10) 2821 - 2825 2017年10月

MONOZYGOTIC TWINS WITH DE NOVO ZIC2 GENE MUTATIONS DISCORDANT FOR THE TYPE OF HOLOPROSENCEPHALY

Junko Nakayama, Hideyo Kinugasa, Tatsuyuki Ohto, Ryuta Tanaka, Tomohiro Nakayama, Emiko Noguchi, Tadao Arinami, Nobuaki Iwasaki

NEUROLOGY 86(15) 1456 - 1458 2016年4月査読有り

Lesions of cortical GABAergic interneurons and acetylcholine neurons in xeroderma pigmentosum group A

Masaharu Hayashi, Tatsuyuki Ohto, Kei Shioda, Ryo Fukatsu

BRAIN & DEVELOPMENT 34(4) 287 - 292 2012年4月査読有り

Organ-specific Sulfation Patterns of Heparan Sulfate Generated by Extracellular Sulfatases Sulf1 and Sulf2 in Mice

Satoshi Nagamine, Michiko Tamba, Hisako Ishimine, Kota Araki, Kensuke Shiomi, Takuya Okada, Tatsuyuki Ohto, Satoshi Kunita, Satoru Takahashi, Ronnie G. P. Wismans, Toin H. van Kuppevelt, Masayuki Masu, Kazuko Keino-Masu

JOURNAL OF BIOLOGICAL CHEMISTRY 287(12) 9579 - 9590 2012年3月査読有り

Abnormal brain MRI signal in 18q-syndrome not due to dysmyelination

Ryuta Tanaka, Nobuaki Iwasaki, Masaharu Hayashi, Junko Nakayama, Tatsuyuki Ohto, Miho Takahashi, Tomokazu Numano, Kazuhiro Homma, Kenzo Hamano, Ryo Sumazaki

BRAIN & DEVELOPMENT 34(3) 234 - 237 2012年3月査読有り

Mild Encephalitis/Encephalopathy With a Reversible Splenial Lesion: Evaluation by Diffusion Tensor Imaging -Three Case Reports

Satoru Osuka, Hironori Imai, Eiichi Ishikawa, Akira Matsushita, Tetsuya Yamamoto, Hiroki Nozue, Tatsuyuki Ohto, Kousaku Saotome, Yoji Komatsu, Akira Matsumura

NEUROLOGIA MEDICO-CHIRURGICA 50(12) 1118 - 1122 2010年12月査読有り

Ethosuximide completely suppressed epileptic negative myoclonus in childhood localization-related epilepsy

Ryuta Tanaka, Tatsuyuki Ohto, Takashi Saito, Nobuaki Iwasaki, Ryo Sumazaki

Epilepsy and Seizure 3(1) 1 - 9 2010年査読有り

短潜時体性感覚誘発電位で中枢伝導時間の著明な延長を認めた先天性無痛無汗症の2例

田中, 竜太, 須貝, 研司, 富士川, 善直, 小牧, 宏文, 中川, 栄二, 斎藤, 義朗, 大戸, 達之, 橋本, 俊顕, 佐々木, 征行

脳と発達 41(6) 452 - 456 2009年11月査読有り

Autotaxin/Lysophospholipase D-mediated Lysophosphatidic Acid Signaling Is Required to Form Distinctive Large Lysosomes in the Visceral Endoderm Cells of the Mouse Yolk Sac

Seiichi Koike, Kazuko Keino-Masu, Tatsuyuki Ohto, Fumihiro Sugiyama, Satoru Takahashi, Masayuki Masu

JOURNAL OF BIOLOGICAL CHEMISTRY 284(48) 33561 - 33570 2009年11月査読有り