Lipidomics links oxidized phosphatidylcholines and coronary arteritis in Kawasaki disease. Reviewed International journal

Yasutaka Nakashima, Yasunari Sakai, Yumi Mizuno, Kenji Furuno, Keiichi Hirono, Shinichi Takatsuki, Hiroyuki Suzuki, Yoshihiro Onouchi, Tohru Kobayashi, Kazuhiro Tanabe, Kenji Hamase, Tomofumi Miyamoto, Ryohei Aoyagi, Makoto Arita, Kenichiro Yamamura, Tamami Tanaka, Hisanori Nishio, Hidetoshi Takada, Shouichi Ohga, Toshiro Hara

Cardiovasc Res   117 ( 1 )   96 - 108   2021.1

GNAO1 organizes the cytoskeletal remodeling and firing of developing neurons. Reviewed International journal

Satoshi Akamine, Sayaka Okuzono, Hiroyuki Yamamoto, Daiki Setoyama, Noriaki Sagata, Masahiro Ohgidani, Takahiro A Kato, Tohru Ishitani, Hiroki Kato, Keiji Masuda, Yuki Matsushita, Hiroaki Ono, Yoshito Ishizaki, Masafumi Sanefuji, Hirotomo Saitsu, Naomichi Matsumoto, Dongchon Kang, Shigenobu Kanba, Yusaku Nakabeppu, Yasunari Sakai, Shouichi Ohga

FASEB J   34 ( 12 )   16601 - 16621   2020.12

De Novo Truncating Mutation of TRIM8 Causes Early-Onset Epileptic Encephalopathy. Reviewed International journal

Sakai Y, Fukai R, Matsushita Y, Miyake N, Saitsu H, Akamine S, Torio M, Sasazuki M, Ishizaki Y, Sanefuji M, Torisu H, Shaw CA, Matsumoto N, Hara T

Ann Hum Genet   80 ( 4 )   235 - 240   2016.7

Hyperactive mTOR signals in the proopiomelanocortin-expressing hippocampal neurons cause age-dependent epilepsy and premature death in mice. Reviewed International journal

Matsushita Y, Sakai Y, Shimmura M, Shigeto H, Nishio M, Akamine S, Sanefuji M, Ishizaki Y, Torisu H, Nakabeppu Y, Suzuki A, Takada H, Hara T

Sci Rep   6   22991 - 22991   2016.3

Protein Interactome Reveals Converging Molecular Pathways Among Autism Disorders Reviewed International journal

Yasunari Sakai, Chad A. Shaw, Brian C. Dawson, Diana V. Dugas, Zaina Al-Mohtaseb, David E. Hill, Huda Y. Zoghbi

Sci Transl Med   3 ( 86 )   86ra49   2011.6

A molecular basis for the selective recognition of 2-hydroxy-dATP and 8-oxo-dGTP by human MTH1. Reviewed International journal

Yasunari Sakai, Masato Furuichi, Masayuki Takahashi, Masaki Mishima, Shigenori Iwai, Masahiro Shirakawa, Yusaku Nakabeppu

J Biol Chem   277 ( 10 )   8579 - 87   2002.3

Rapid and long-lasting efficacy of high-dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature review. Reviewed International journal

Kanako Higashi, Yuri Sonoda, Noriyuki Kaku, Fumihiko Fujii, Fumiya Yamashita, Sooyoung Lee, Vlad Tocan, Go Ebihara, Wakato Matsuoka, Kenichi Tetsuhara, Motoshi Sonoda, Pin Fee Chong, Yuichi Mushimoto, Kanako Kojima-Ishii, Masataka Ishimura, Yuhki Koga, Atsuhisa Fukuta, Nana Akagi Tsuchihashi, Yoshikazu Kikuchi, Takahito Karashima, Takaaki Sawada, Taeko Hotta, Makoto Yoshimitsu, Hideyuki Terazono, Tatsuro Tajiri, Takashi Nakagawa, Yasunari Sakai, Kimitoshi Nakamura, Shouichi Ohga

Mol Genet Genomic Med   12 ( 4 )   e2427   2024.4

Non-conditioned cord blood transplantation for infection control in athymic CHARGE syndrome. Reviewed International journal

Motoshi Sonoda, Masataka Ishimura, Hirosuke Inoue, Katsuhide Eguchi, Masayuki Ochiai, Yasunari Sakai, Takehiko Doi, Kyoko Suzuki, Takeshi Inoue, Tomoyuki Mizukami, Kimitoshi Nakamura, Hidetoshi Takada, Shouichi Ohga

Pediatr Blood Cancer   71 ( 3 )   e30809   2024.3

Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature. Reviewed International journal

Yuri Sonoda, Atsushi Fujita, Michiko Torio, Takahiko Mukaino, Ayumi Sakata, Masaru Matsukura, Kousuke Yonemoto, Ken Hatae, Yuko Ichimiya, Pin Fee Chong, Masayuki Ochiai, Yoshinao Wada, Machiko Kadoya, Nobuhiko Okamoto, Yoshiko Murakami, Tadashi Suzuki, Noriko Isobe, Hiroshi Shigeto, Naomichi Matsumoto, Yasunari Sakai, Shouichi Ohga

Eur J Med Genet   67   104895 - 104895   2023.12

TRPV4‐mediated Ca2+ deregulation causes mitochondrial dysfunction via the AKT/α‐synuclein pathway in dopaminergic neurons Reviewed International journal

Xiao Sun, Jun Kong, Shuangshan Dong, Hiroki Kato, Hiroshi Sato, Yuta Hirofuji, Yosuke Ito, Lu Wang, Takahiro A. Kato, Michiko Torio, Yasunari Sakai, Shouichi Ohga, Satoshi Fukumoto, Keiji Masuda

FASEB BioAdv   2023.10

Angiogenic and inflammatory responses in human induced microglia-like (iMG) cells from patients with Moyamoya disease. Reviewed International journal

Noritoshi Shirozu, Masahiro Ohgidani, Nobuhiro Hata, Shunya Tanaka, Shogo Inamine, Noriaki Sagata, Tetsuaki Kimura, Ituro Inoue, Koichi Arimura, Akira Nakamizo, Ataru Nishimura, Naoki Maehara, Soh Takagishi, Katsuma Iwaki, Tomohiro Nakao, Keiji Masuda, Yasunari Sakai, Masahiro Mizoguchi, Koji Yoshimoto, Takahiro A Kato

Sci Rep   13 ( 1 )   14842 - 14842   2023.9

Effects of melatonin on dopaminergic neuron development via IP3-mediated mitochondrial Ca²⁺ regulation in autism spectrum disorder. Reviewed International journal

Dong S, Kifune T, Kato H, Wang L, Kong J, Hirofuji Y, Xiao Sun, Sato H, Ito Y, Kato TA, Sakai Y, Ohga S, Fukumoto S, Masuda K

Biochem Biophys Res Commun   2023.9

Critical diseases in neonates after discharge home from birth hospital: A retrospective study from a tertiary hospital in Japan. Reviewed International journal

Junko Fujiyoshi, Hirosuke Inoue, Toru Sawano, Yuichi Mushimoto, Yoshitomo Motomura, Kei Nishiyama, Noriyuki Kaku, Hazumu Nagata, Kenichiro Yamamura, Masataka Ishimura, Yuhki Koga, Masayuki Ochiai, Yasunari Sakai, Tatsuro Tajiri, Shouichi Ohga

Early human development   186   105869 - 105869   2023.9

Stroke in a protein C-deficient infant after stem cell transplant for CHARGE syndrome. Reviewed International journal

Atsushi Tanaka, Yoshiaki Sakaguchi, Hirosuke Inoue, Naoki Egami, Yuri Sonoda, Motoshi Sonoda, Masataka Ishimura, Masayuki Ochiai, Taeko Hotta, Takeshi Uchiumi, Yasunari Sakai, Shouichi Ohga

Pediatr Blood Cancer   70 ( 4 )   e30047   2023.4

Molecular diagnosis of 405 individuals with autism spectrum disorder. Reviewed International journal

Noriko Miyake, Yoshinori Tsurusaki, Ryoko Fukai, Itaru Kushima, Nobuhiko Okamoto, Kei Ohashi, Kazuhiko Nakamura, Ryota Hashimoto, Yoko Hiraki, Shuraku Son, Mitsuhiro Kato, Yasunari Sakai, Hitoshi Osaka, Kimiko Deguchi, Toyojiro Matsuishi, Saoko Takeshita, Aviva Fattal-Valevski, Nina Ekhilevitch, Jun Tohyama, Patrick Yap, Wee Teik Keng, Hiroshi Kobayashi, Keiyo Takubo, Takashi Okada, Shinji Saitoh, Yuka Yasuda, Toshiya Murai, Kazuyuki Nakamura, Shouichi Ohga, Ayumi Matsumoto, Ken Inoue, Tomoko Saikusa, Tova Hershkovitz, Yu Kobayashi, Mako Morikawa, Aiko Ito, Toshiro Hara, Yota Uno, Chizuru Seiwa, Kanako Ishizuka, Emi Shirahata, Atsushi Fujita, Eriko Koshimizu, Satoko Miyatake, Atsushi Takata, Takeshi Mizuguchi, Norio Ozaki, Naomichi Matsumoto

Eur J Hum Genet   2023.3

Quantitative indices for an intracranial aneurysm and subarachnoid hemorrhage in early childhood: a case report. Reviewed International journal

Kenichi Tetsuhara, Noriyuki Kaku, Koichi Arimura, Yasunari Sakai, Shouichi Ohga

BMC Neurol   22 ( 1 )   488 - 488   2022.12

Mitochondrial Calcium-Triggered Oxidative Stress and Developmental Defects in Dopaminergic Neurons Differentiated from Deciduous Teeth-Derived Dental Pulp Stem Cells with MFF Insufficiency. Reviewed International journal

Xiao Sun, Shuangshan Dong, Hiroki Kato, Jun Kong, Yosuke Ito, Yuta Hirofuji, Hiroshi Sato, Takahiro A Kato, Yasunari Sakai, Shouichi Ohga, Satoshi Fukumoto, Keiji Masuda

Antioxidants   11 ( 7 )   2022.7

Lung to thorax transverse area ratio as a predictor of neurodevelopmental outcomes in fetuses with congenital diaphragmatic hernia. Reviewed International journal

Toru Sawano, Takuya Kondo, Go Ebihara, Kouji Nagata, Hirosuke Inoue, Junko Fujiyoshi, Masayuki Ochiai, Saki Kido, Yasuyuki Fujita, Yasunari Sakai, Kiyoko Kato, Tatsuro Tajiri, Shouichi Ohga

Early Hum Dev   170   105598 - 105598   2022.7

Critical vitamin deficiencies in autism spectrum disorder: Reversible and irreversible outcomes. Reviewed International journal

Pin Fee Chong, Michiko Torio, Fumihiko Fujii, Yuichiro Hirata, Wakato Matsuoka, Yuri Sonoda, Yuko Ichimiya, Yutaro Yada, Noriyuki Kaku, Masataka Ishimura, Momoko Sasazuki, Yuhki Koga, Masafumi Sanefuji, Yasunari Sakai, Shouichi Ohga

Eur J Clin Nutr   2022.6

High-dose immunoglobulin therapy for steroid-resistant myositis in juvenile localized scleroderma. Reviewed International journal

Motoshi Sonoda, Masataka Ishimura, Katsuhide Eguchi, Akira Shiraishi, Yasunari Sakai, Kazunori Urabe, Shouichi Ohga

Pediatr Neonatol   2022.4

The earliest enzyme replacement for infantile-onset Pompe disease in Japan Reviewed International journal

Vlad Tocan, Yuichi Mushimoto, Kanako Kojima-Ishii, Akane Matsuda, Naoko Toda, Daisuke Toyomura, Yuichiro Hirata, Masafumi Sanefuji, Takaaki Sawada, Yasunari Sakai, Kimitoshi Nakamura, Shouichi Ohga

Pediatr Int   64 ( 1 )   2022.1

Progressive B cell depletion in human MALT1 deficiency. Reviewed International journal

Motoshi Sonoda, Masataka Ishimura, Katsuhide Eguchi, Yutaro Yada, Nina Lenhartová, Akira Shiraishi, Tamami Tanaka, Yasunari Sakai, Shouichi Ohga

Clin Exp Immunol   206 ( 3 )   237 - 247   2021.12

Acute-phase electroencephalography for an infantile atypical teratoid/rhabdoid tumor. Reviewed International journal

Yuko Ichimiya, Soichi Mizuguchi, Yoshitomo Motomura, Yuhki Koga, Noriyuki Kaku, Nobuhiro Hata, Koji Yoshimoto, Ayumi Sakata, Satoshi O Suzuki, Toru Iwaki, Yasunari Sakai, Shouichi Ohga

Clin Neurol Neurosurg   209   106922 - 106922   2021.10

Brain-sparing cord blood transplantation for the borderline stage of adrenoleukodystrophy. Reviewed International journal

Yutaro Yada, Michiko Torio, Yuhki Koga, Fumiya Yamashita, Takuya Ichimura, Katsuhide Eguchi, Masataka Ishimura, Yuichi Mushimoto, Akio Hiwatashi, Momoko Sasazuki, Ryutaro Kira, Yasunari Sakai, Shouichi Ohga

Mol Genet Metab Rep   28   100778 - 100778   2021.9

Favorable outcomes of interferon-α and ribavirin treatment for a male with subacute sclerosing panencephalitis. Reviewed International journal

Yuri Sonoda, Motoshi Sonoda, Kousuke Yonemoto, Masafumi Sanefuji, Ryoji Taira, Yoshitomo Motomura, Masataka Ishimura, Hiroyuki Torisu, Ryutaro Kira, Koichi Kusuhara, Yasunari Sakai, Shouichi Ohga

J Neuroimmunol   358   577656 - 577656   2021.9

Age-related morphological differences in the spike-and-wave complexes of absence epilepsy. Reviewed International journal

Yuri Sonoda, Masafumi Sanefuji, Yuko Ichimiya, Michiko Torio, Eriko Watanabe, Ayumi Sakata, Yoshito Ishizaki, Yasunari Sakai, Shouichi Ohga

Epilepsy Res   174   106647 - 106647   2021.8

Breast feeding and infant development in a cohort with sibling pair analysis: the Japan Environment and Children's Study. Reviewed International journal

Masafumi Sanefuji, Ayako Senju, Masayuki Shimono, Masanobu Ogawa, Yuri Sonoda, Michiko Torio, Yuko Ichimiya, Reiko Suga, Yasunari Sakai, Satoshi Honjo, Koichi Kusuhara, Shouichi Ohga

BMJ Open   11 ( 8 )   e043202   2021.8

Paroxysmal sympathetic hyperactivity and the later development of epilepsy in a chemotherapy-associated brain damage. Reviewed International journal

Ryoji Taira, Kenichiro Yamamura, Tomoko Maeda, Ayumi Sakata, Eriko Watanabe, Takafumi Shimogawa, Nobutaka Mukae, Chizuru Ikeda, Masahiro Migita, Osamu Watanabe, Yuhki Koga, Yasunari Sakai, Shouichi Ohga

Brain Dev   2021.7

Clarifying the Pathophysiological Mechanisms of Neuronal Abnormalities of NF1 by Induced-Neuronal (iN) Cells from Human Fibroblasts Reviewed International journal

Noriaki Sagata, Yasunari Sakai, Takahiro A. Kato

Neuropsychopharm Rep   2021.7

A nation-wide survey of Japanese pediatric MOG antibody-associated diseases. Reviewed International journal

Kohji Azumagawa, Ichiro Nakashima, Kimihiko Kaneko, Hiroyuki Torisu, Yasunari Sakai, Ryutaro Kira, Hiroshi Sakuma, Keiko Tanaka, Yasushi Shigeri, Yoshie Tanaka, Hideto Nakajima, Shuichi Shimakawa, Hiroshi Tamai

Brain Dev   43 ( 6 )   705 - 713   2021.6

Predictive values of early head computed tomography for survival outcome after cardiac arrest in childhood: a pilot study. Reviewed International journal

Kenichi Tetsuhara, Noriyuki Kaku, Yuka Watanabe, Masaya Kumamoto, Yuko Ichimiya, Soichi Mizuguchi, Kanako Higashi, Wakato Matsuoka, Yoshitomo Motomura, Masafumi Sanefuji, Akio Hiwatashi, Yasunari Sakai, Shouichi Ohga

Sci Rep   11 ( 1 )   12090 - 12090   2021.6

Alectinib-responsive infantile anaplastic ganglioglioma with a novel VCL-ALK gene fusion. Reviewed International journal

Shunsuke Yamamoto, Yuhki Koga, Hiroaki Ono, Hironori Goto, Nobuhiro Hata, Hidetaka Yamamoto, Satoshi O Suzuki, Yasunari Sakai, Toru Iwaki, Shouichi Ohga

Pediatr Blood Cancer   68 ( 9 )   e29122   2021.5

Clinical manifestations and epilepsy treatment in Japanese patients with pathogenic CDKL5 variants. Reviewed International journal

Yu Kobayashi, Jun Tohyama, Yukitoshi Takahashi, Tomohide Goto, Kazuhiro Haginoya, Takeshi Inoue, Masaya Kubota, Hiroshi Fujita, Ryoko Honda, Masahiro Ito, Kanako Kishimoto, Kazuyuki Nakamura, Yasunari Sakai, Jun-Ichi Takanashi, Manabu Tanaka, Koichi Tanda, Koji Tominaga, Seiichiro Yoshioka, Mitsuhiro Kato, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto

Brain Dev   43 ( 4 )   505 - 514   2021.4

Vitamin A deficiency-associated corneal perforation in a boy with autism spectrum disorder: A case report and literature review. Reviewed International journal

Shunichi Adachi, Michiko Torio, Sayaka Okuzono, Yoshitomo Motomura, Yuko Ichimiya, Yuri Sonoda, Jyunya Nagata, Misato Okamoto, Shouji Noutomi, Masafumi Sanefuji, Yasunari Sakai, Shouichi Ohga

Nutrition   90   111275 - 111275   2021.4

Assessment of Pediatric Admissions for Kawasaki Disease or Infectious Disease During the COVID-19 State of Emergency in Japan. Reviewed International journal

Takuya Hara, Kenji Furuno, Kenichiro Yamamura, Junji Kishimoto, Yumi Mizuno, Kenji Murata, Sagano Onoyama, Ken Hatae, Megumi Takemoto, Yoshito Ishizaki, Shunsuke Kanno, Kazuo Sato, Yoshitomo Motomura, Yasunari Sakai, Shouichi Ohga, Mayumi Yashiro, Yoshikazu Nakamura, Toshiro Hara

JAMA Netw Open   4 ( 4 )   e214475   2021.4

De novo ATP1A3 variants cause polymicrogyria. Reviewed International journal

Satoko Miyatake, Mitsuhiro Kato, Takuma Kumamoto, Tomonori Hirose, Eriko Koshimizu, Takaaki Matsui, Hideyuki Takeuchi, Hiroshi Doi, Keisuke Hamada, Mitsuko Nakashima, Kazunori Sasaki, Akio Yamashita, Atsushi Takata, Kohei Hamanaka, Mai Satoh, Takabumi Miyama, Yuri Sonoda, Momoko Sasazuki, Hiroyuki Torisu, Toshiro Hara, Yasunari Sakai, Yushi Noguchi, Mazumi Miura, Yoko Nishimura, Kazuyuki Nakamura, Hideyuki Asai, Nodoka Hinokuma, Fuyuki Miya, Tatsuhiko Tsunoda, Masami Togawa, Yukihiro Ikeda, Nobusuke Kimura, Kaoru Amemiya, Asako Horino, Masataka Fukuoka, Hiroko Ikeda, Goni Merhav, Nina Ekhilevitch, Masaki Miura, Takeshi Mizuguchi, Noriko Miyake, Atsushi Suzuki, Shouichi Ohga, Hirotomo Saitsu, Hidehisa Takahashi, Fumiaki Tanaka, Kazuhiro Ogata, Chiaki Ohtaka-Maruyama, Naomichi Matsumoto

Sci Adv   7 ( 13 )   2021.3

Forskolin rapidly enhances neuron-like morphological change of directly induced-neuronal cells from neurofibromatosis type 1 patients. Reviewed International journal

Noriaki Sagata, Shin-Ichi Kano, Masahiro Ohgidani, Shogo Inamine, Yasunari Sakai, Hiroki Kato, Keiji Masuda, Takeshi Nakahara, Makiko Nakahara-Kido, Shouichi Ohga, Masutaka Furue, Akira Sawa, Shigenobu Kanba, Takahiro A Kato

Neuropsychopharm Rep   40 ( 4 )   396 - 400   2020.12

De novo CACNA1G variants in developmental delay and early-onset epileptic encephalopathies. Reviewed International journal

Misako Kunii, Hiroshi Doi, Shunta Hashiguchi, Toyojiro Matsuishi, Yasunari Sakai, Mizue Iai, Masaki Okubo, Haruko Nakamura, Keita Takahashi, Atsuko Katsumoto, Mikiko Tada, Hideyuki Takeuchi, Taro Ishikawa, Noriko Miyake, Hirotomo Saitsu, Naomichi Matsumoto, Fumiaki Tanaka

J Neurol Sci   416   117047 - 117047   2020.9

Parvovirus B19-Infected Tubulointerstitial Nephritis in Hereditary Spherocytosis. Reviewed International journal

Kei Nishiyama, Yuka Watanabe, Masataka Ishimura, Kenichi Tetsuhara, Takashi Imai, Hikaru Kanemasa, Kenji Ueki, Yoshitomo Motomura, Noriyuki Kaku, Yasunari Sakai, Ken-Ichi Imadome, Shouichi Ohga

Open Forum Infect Dis   7 ( 8 )   ofaa288   2020.8

Management of apnea in infants with trisomy 18. Reviewed International journal

Ryoji Taira, Hirosuke Inoue, Toru Sawano, Junko Fujiyoshi, Yuko Ichimiya, Michiko Torio, Masafumi Sanefuji, Masayuki Ochiai, Yasunari Sakai, Shouichi Ohga

Dev Med Child Neurol   62 ( 7 )   874 - 878   2020.7

The expanding phenotype of hypokalemic periodic paralysis in a Japanese family with p.Val876Glu mutation in CACNA1S. Reviewed International journal

Mari Kurokawa, Michiko Torio, Kazuhiro Ohkubo, Vlad Tocan, Noriko Ohyama, Naoko Toda, Kanako Ishii, Kei Nishiyama, Yuichi Mushimoto, Ryuichi Sakamoto, Maki Nakaza, Riho Horie, Tomoya Kubota, Masanori P Takahashi, Yasunari Sakai, Masatoshi Nomura, Shouichi Ohga

Mol Genet Genomic Med   8 ( 4 )   e1175   2020.4

Gastrointestinal symptoms as an extended clinical feature of Pierson syndrome: a case report and review of the literature. Reviewed International journal

Kei Nishiyama, Mari Kurokawa, Michiko Torio, Yasunari Sakai, Mitsuru Arima, Shoko Tsukamoto, Satoshi Obata, Shogo Minamikawa, Kandai Nozu, Noriyuki Kaku, Yoshihiko Maehara, Koh-Hei Sonoda, Tomoaki Taguchi, Shouichi Ohga

BMC Med Genet   21 ( 1 )   80 - 80   2020.4

De novo p.G696S mutation in COL4A1 causes intracranial calcification and late-onset cerebral hemorrhage: A case report and review of the literature. Reviewed International journal

Keishiro Kinoshita, Yoshito Ishizaki, Hiroyuki Yamamoto, Motoshi Sonoda, Kousuke Yonemoto, Ryutaro Kira, Masafumi Sanefuji, Akihiko Ueda, Hirotaka Matsui, Yukio Ando, Yasunari Sakai, Shouichi Ohga

Eur J Med Genet   63 ( 4 )   103825 - 103825   2020.4

Survival and ocular preservation in a long-term cohort of Japanese patients with retinoblastoma. Reviewed International journal

Tamaki Ueda, Yuhki Koga, Hiroshi Yoshikawa, Mika Tanabe, Kanako Yamana, Utako Oba, Kentaro Nakashima, Hiroaki Ono, Takuya Ichimura, Shunji Hasegawa, Wakako Kato, Tetsuko Kobayashi, Hideki Nakayama, Yasunari Sakai, Tadamasa Yoshitake, Saiji Ohga, Yoshinao Oda, Shigenobu Suzuki, Koh-Hei Sonoda, Shouichi Ohga

BMC Pediatr   20 ( 1 )   37 - 37   2020.1

Prognostic factors for survival of herpes simplex virus-associated hemophagocytic lymphohistiocytosis. Reviewed

Motoshi Sonoda, Masataka Ishimura, Katsuhide Eguchi, Akira Shiraishi, Shunsuke Kanno, Noriyuki Kaku, Hirosuke Inoue, Yoshitomo Motomura, Masayuki Ochiai, Yasunari Sakai, Manabu Nakayama, Osamu Ohara, Shouichi Ohga

Int J Hematol   111 ( 1 )   131 - 136   2020.1

Association of perinatal factors of epilepsy in very low birth weight infants, using a nationwide database in Japan. Reviewed International journal

Yuki Matsushita, Yasunari Sakai, Michiko Torio, Hirosuke Inoue, Masayuki Ochiai, Kazuaki Yasuoka, Hiroaki Kurata, Junko Fujiyoshi, Masako Ichiyama, Tomoaki Taguchi, Kiyoko Kato, Shouichi Ohga

J Perinatol   39 ( 11 )   1472 - 1479   2019.11

Late-Onset Circulatory Collapse and Risk of Cerebral Palsy in Extremely Preterm Infants. Reviewed International journal

Kazuaki Yasuoka, Hirosuke Inoue, Naoki Egami, Masayuki Ochiai, Koichi Tanaka, Toru Sawano, Hiroaki Kurata, Masako Ichiyama, Junko Fujiyoshi, Yuki Matsushita, Yasunari Sakai, Shouichi Ohga

J Pediatr   212   117 - 123   2019.9

Decision-making dilemmas of paediatricians: a qualitative study in Japan. Reviewed International journal

Momoko Sasazuki, Yasunari Sakai, Ryutaro Kira, Naoko Toda, Yuko Ichimiya, Satoshi Akamine, Michiko Torio, Yoshito Ishizaki, Masafumi Sanefuji, Miho Narama, Koichiro Itai, Toshiro Hara, Hidetoshi Takada, Yoshiyuki Kizawa, Shouichi Ohga

BMJ Open   9 ( 8 )   e026579   2019.8

Recurrent de novo MAPK8IP3 variants cause neurological phenotypes. Reviewed International journal

Shinya Iwasawa, Kumiko Yanagi, Atsuo Kikuchi, Yasuko Kobayashi, Kazuhiro Haginoya, Hiroshi Matsumoto, Kenji Kurosawa, Masayuki Ochiai, Yasunari Sakai, Atsushi Fujita, Noriko Miyake, Tetsuya Niihori, Matsuyuki Shirota, Ryo Funayama, Shigeaki Nonoyama, Shouichi Ohga, Hiroshi Kawame, Keiko Nakayama, Yoko Aoki, Naomichi Matsumoto, Tadashi Kaname, Yoichi Matsubara, Wataru Shoji, Shigeo Kure

Ann Neuol   85 ( 6 )   927 - 933   2019.6

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy. Reviewed International journal

Atsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu, Takeshi Mizuguchi, Satomi Mitsuhashi, Yukitoshi Takahashi, Nobuhiko Okamoto, Hitoshi Osaka, Kazuyuki Nakamura, Jun Tohyama, Kazuhiro Haginoya, Saoko Takeshita, Ichiro Kuki, Tohru Okanishi, Tomohide Goto, Masayuki Sasaki, Yasunari Sakai, Noriko Miyake, Satoko Miyatake, Naomi Tsuchida, Kazuhiro Iwama, Gaku Minase, Futoshi Sekiguchi, Atsushi Fujita, Eri Imagawa, Eriko Koshimizu, Yuri Uchiyama, Kohei Hamanaka, Chihiro Ohba, Toshiyuki Itai, Hiromi Aoi, Ken Saida, Tomohiro Sakaguchi, Kouhei Den, Rina Takahashi, Hiroko Ikeda, Tokito Yamaguchi, Kazuki Tsukamoto, Shinsaku Yoshitomi, Taikan Oboshi, Katsumi Imai, Tomokazu Kimizu, Yu Kobayashi, Masaya Kubota, Hirofumi Kashii, Shimpei Baba, Mizue Iai, Ryutaro Kira, Munetsugu Hara, Masayasu Ohta, Yohane Miyata, Rie Miyata, Jun-Ichi Takanashi, Jun Matsui, Kenji Yokochi, Masayuki Shimono, Masano Amamoto, Rumiko Takayama, Shinichi Hirabayashi, Kaori Aiba, Hiroshi Matsumoto, Shin Nabatame, Takashi Shiihara, Mitsuhiro Kato, Naomichi Matsumoto

Nat Commun   10 ( 1 )   2506 - 2506   2019.6

Positive effect of exogenous brain-derived neurotrophic factor on impaired neurite development and mitochondrial function in dopaminergic neurons derived from dental pulp stem cells from children with attention deficit hyperactivity disorder. Reviewed International journal

Huong Thi Nguyen Nguyen, Hiroki Kato, Hiroshi Sato, Haruyoshi Yamaza, Yasunari Sakai, Shouichi Ohga, Kazuaki Nonaka, Keiji Masuda

Biochem Bbiophysical Res Commun   513 ( 4 )   1048 - 1054   2019.6

A Child with Prostaglandin I2-associated Thyrotoxicosis: Case Report Reviewed International journal

Yuri Sonoda, Kenichiro Yamamura, Kanako Ishii, Kazuhiro Ohkubo, Kenji Ihara, Yasunari Sakai, Shouichi Ohga

J Clin Res Pediatr Endocrinol   11 ( 2 )   207 - 210   2019.5

A Nationwide Survey of Pediatric-onset Japanese Encephalitis in Japan. Reviewed International journal

Etsuro Nanishi, Takayuki Hoshina, Masafumi Sanefuji, Ryo Kadoya, Katsuhiko Kitazawa, Yukie Arahata, Tetsuya Sato, Yoshimichi Hirayama, Katsuki Hirai, Masaaki Yanai, Kaori Nikaido, Akihiko Maeda, Hiroyuki Torisu, Kenji Okada, Yasunari Sakai, Shouichi Ohga

Clin Infectious Dis   68 ( 12 )   2099 - 2104   2019.5

Late-onset sepsis and encephalopathy after bicycle-spoke injury: a case report. Reviewed International journal

Ryuichi Takemoto, Yoshitomo Motomura, Noriyuki Kaku, Yuko Ichimiya, Mamoru Muraoka, Shunsuke Kanno, Tamami Tanaka, Yasunari Sakai, Yoshihiko Maehara, Shouichi Ohga

BMC Infect Dis   19 ( 1 )   472 - 472   2019.5

An acute encephalopathy with reduced diffusion in BRAF-associated cardio-facio-cutaneous syndrome. Reviewed International journal

Sayaka Okuzono, Ryoko Fukai, Marie Noda, Noriko Miyake, Sooyoung Lee, Noriyuki Kaku, Masafumi Sanefuji, Satoshi Akamine, Shunsuke Kanno, Yoshito Ishizaki, Hiroyuki Torisu, Ryutaro Kira, Naomichi Matsumoto, Yasunari Sakai, Shouichi Ohga

Brain Dev   41 ( 4 )   378 - 381   2019.4

Early Intervention With Adrenocorticotropin for Acute Encephalopathy-Associated Epileptic Spasms: Report of Two Cases. Reviewed International journal

Kousuke Yonemoto, Yuko Ichimiya, Masafumi Sanefuji, Noriyuki Kaku, Ayumi Sakata, Rieko Baba, Fumiya Yamashita, Satoshi Akamine, Michiko Torio, Yoshito Ishizaki, Yoshihiko Maehara, Yasunari Sakai, Shouichi Ohga

Clin EEG Neurosci   50 ( 1 )   51 - 55   2019.1

A nationwide survey on tracheostomy for very-low-birth-weight infants in Japan. Reviewed International journal

Hiroaki Kurata, Masayuki Ochiai, Hirosuke Inoue, Masako Ichiyama, Kazuaki Yasuoka, Junko Fujiyoshi, Yuki Matsushita, Satoshi Honjo, Yasunari Sakai, Shouichi Ohga

Pediatr Pulmonol   54 ( 1 )   53 - 60   2019.1

Vascular pathomechanism in acute encephalopathy with biphasic seizures and late reduced diffusion. Reviewed International journal

Masafumi Sanefuji, Yuko Ichimiya, Noriyuki Kaku, Momoko Sasazuki, Kosuke Yonemoto, Michiko Torio, Soichi Mizuguchi, Yoshitomo Motomura, Mamoru Muraoka, Sooyoung Lee, Haruhisa Baba, Kazuhiro Ohkubo, Yuri Sonoda, Yoshito Ishizaki, Yasunari Sakai, Shouichi Ohga

J Neurol Sci   395   141 - 146   2018.12

Neurodevelopmental Outcomes in Infants With Birth Weight ≤500 g at 3 Years of Age. Reviewed International journal

Hirosuke Inoue, Masayuki Ochiai, Yasunari Sakai, Kazuaki Yasuoka, Koichi Tanaka, Masako Ichiyama, Hiroaki Kurata, Junko Fujiyoshi, Yuki Matsushita, Satoshi Honjo, Kazuaki Nonaka, Tomoaki Taguchi, Kiyoko Kato, Shouichi Ohga

Pediatrics   142 ( 6 )   2018.12

Impaired neurite development associated with mitochondrial dysfunction in dopaminergic neurons differentiated from exfoliated deciduous tooth-derived pulp stem cells of children with autism spectrum disorder. Reviewed International journal

Huong Thi Nguyen Nguyen, Hiroki Kato, Keiji Masuda, Haruyoshi Yamaza, Yuta Hirofuji, Hiroshi Sato, Thanh Thi Mai Pham, Fumiko Takayama, Yasunari Sakai, Shouichi Ohga, Tomoaki Taguchi, Kazuaki Nonaka

Biochem Biophys Rep   16   24 - 31   2018.12

Radiotherapy for Langerhans cell histiocytosis with paraplegia: A rare oncologic emergency case report in infancy and literature review. Reviewed International journal

Kentaro Nakashima, Yuhki Koga, Yasunari Sakai, Hidetoshi Takada, Katsumi Harimaya, Saiji Ohga, Tomoaki Taguchi, Yoshinao Oda, Hiroshi Honda, Shouichi Ohga

Brain Dev   40 ( 10 )   952 - 955   2018.11

Diagnostic potential of stored dried blood spots for inborn errors of metabolism: a metabolic autopsy of medium-chain acyl-CoA dehydrogenase deficiency. Reviewed International journal

Noriyuki Kaku, Kenji Ihara, Yuichiro Hirata, Kenji Yamada, Sooyoung Lee, Hikaru Kanemasa, Yoshitomo Motomura, Haruhisa Baba, Tamami Tanaka, Yasunari Sakai, Yoshihiko Maehara, Shouichi Ohga

J Clin Pathol   71 ( 10 )   885 - 889   2018.10

Leucine-rich alpha-2 glycoprotein in the cerebrospinal fluid is a potential inflammatory biomarker for meningitis. Reviewed International journal

Pin Fee Chong, Yasunari Sakai, Hiroyuki Torisu, Tamami Tanaka, Kenji Furuno, Yumi Mizuno, Shouichi Ohga, Toshiro Hara, Ryutaro Kira

J Neurol Sci   392   51 - 55   2018.9

A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia. Reviewed International journal

Satoshi Akamine, Yoshito Ishizaki, Yasunari Sakai, Hiroyuki Torisu, Ryoko Fukai, Noriko Miyake, Kazuhiro Ohkubo, Hiroshi Koga, Masafumi Sanefuji, Ayumi Sakata, Masahiko Kimura, Seiji Yamaguchi, Osamu Sakamoto, Toshiro Hara, Hirotomo Saitsu, Naomichi Matsumoto, Shouichi Ohga

Eur J Med Genet   61 ( 8 )   451 - 454   2018.8

Atypical erythroblastosis in a patient with Diamond-Blackfan anemia who developed del(20q) myelodysplasia. Reviewed

Motoshi Sonoda, Masataka Ishimura, Yuko Ichimiya, Eiko Terashi, Katsuhide Eguchi, Yasunari Sakai, Hidetoshi Takada, Asahito Hama, Hitoshi Kanno, Tsutomu Toki, Etsuro Ito, Shouichi Ohga

Int J Hematol   108 ( 2 )   228 - 231   2018.8

Correction to: Atypical erythroblastosis in a patient with Diamond-Blackfan anemia who developed del(20q) myelodysplasia. Reviewed

Motoshi Sonoda, Masataka Ishimura, Yuko Ichimiya, Eiko Terashi, Katsuhide Eguchi, Yasunari Sakai, Hidetoshi Takada, Asahito Hama, Hitoshi Kanno, Tsutomu Toki, Etsuro Ito, Shouichi Ohga

Int J Hematol   108 ( 2 )   236 - 236   2018.8

Deletions of SCN2A and SCN3A genes in a patient with West syndrome and autistic spectrum disorder. Reviewed International journal

Pin Fee Chong, Hirotomo Saitsu, Yasunari Sakai, Toru Imagi, Ryoko Nakamura, Masaru Matsukura, Naomichi Matsumoto, Ryutaro Kira

Seizure   60   91 - 93   2018.8

Predictive indicators for the development of epilepsy after acute encephalopathy with biphasic seizures and late reduced diffusion. Reviewed International journal

Yuko Ichimiya, Noriyuki Kaku, Masafumi Sanefuji, Michiko Torio, Soichi Mizuguchi, Yoshitomo Motomura, Mamoru Muraoka, Sooyoung Lee, Haruhisa Baba, Yuri Sonoda, Yoshito Ishizaki, Momoko Sasazuki, Yasunari Sakai, Yoshihiko Maehara, Shouichi Ohga

Epilepsy Res   143   70 - 74   2018.7

Cancer Management in Kabuki Syndrome: The First Case of Wilms Tumor and a Literature Review. Reviewed International journal

Hideto Teranishi, Yuhki Koga, Kentaro Nakashima, Eiji Morihana, Kanako Ishii, Yasunari Sakai, Tomoaki Taguchi, Yoshinao Oda, Noriko Miyake, Naomichi Matsumoto, Shouichi Ohga

J Pediatr Hematol Oncol   40 ( 5 )   391 - 394   2018.7

A rightward saccade to an unexpected stimulus as a marker for lateralised visuospatial attention. Reviewed International journal

Masafumi Sanefuji, Hiroshi Yamashita, Michiko Torio, Daisuke Katsuki, Satoshi Akamine, Yoshito Ishizaki, Junji Kishimoto, Yasunari Sakai, Hidetoshi Takada, Keiko Yoshida, Shouichi Ohga

Sci Rep   8 ( 1 )   7562 - 7562   2018.5

Mitochondrial dysfunction in dopaminergic neurons differentiated from exfoliated deciduous tooth-derived pulp stem cells of a child with Rett syndrome. Reviewed International journal

Saki Hirofuji, Yuta Hirofuji, Hiroki Kato, Keiji Masuda, Haruyoshi Yamaza, Hiroshi Sato, Fumiko Takayama, Michiko Torio, Yasunari Sakai, Shouichi Ohga, Tomoaki Taguchi, Kazuaki Nonaka

Biochem Biophys Res Commun   498 ( 4 )   898 - 904   2018.4

Effective shunt closure for pulmonary hypertension and liver dysfunction in congenital portosystemic venous shunt. Reviewed International journal

Kiyoshi Uike, Hazumu Nagata, Yuichiro Hirata, Kenichiro Yamamura, Eiko Terashi, Toshiharu Matsuura, Eiji Morihana, Kazuhiro Ohkubo, Kanako Ishii, Yasunari Sakai, Tomoaki Taguchi, Shouichi Ohga

Pediatr Pulmonol   53 ( 4 )   505 - 511   2018.4

Early-onset epileptic encephalopathy and severe developmental delay in an association with de novo double mutations in NF1 and MAGEL2. Reviewed International journal

Satoshi Akamine, Noriaki Sagata, Yasunari Sakai, Takahiro A Kato, Takeshi Nakahara, Yuki Matsushita, Osamu Togao, Akio Hiwatashi, Masafumi Sanefuji, Yoshito Ishizaki, Hiroyuki Torisu, Hirotomo Saitsu, Naomichi Matsumoto, Toshiro Hara, Akira Sawa, Shinichi Kano, Masutaka Furue, Shigenobu Kanba, Chad A Shaw, Shouichi Ohga

Epilepsia Open   3 ( 1 )   81 - 85   2018.3

Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder. Reviewed International journal

Atsushi Takata, Noriko Miyake, Yoshinori Tsurusaki, Ryoko Fukai, Satoko Miyatake, Eriko Koshimizu, Itaru Kushima, Takashi Okada, Mako Morikawa, Yota Uno, Kanako Ishizuka, Kazuhiko Nakamura, Masatsugu Tsujii, Takeo Yoshikawa, Tomoko Toyota, Nobuhiko Okamoto, Yoko Hiraki, Ryota Hashimoto, Yuka Yasuda, Shinji Saitoh, Kei Ohashi, Yasunari Sakai, Shouichi Ohga, Toshiro Hara, Mitsuhiro Kato, Kazuyuki Nakamura, Aiko Ito, Chizuru Seiwa, Emi Shirahata, Hitoshi Osaka, Ayumi Matsumoto, Saoko Takeshita, Jun Tohyama, Tomoko Saikusa, Toyojiro Matsuishi, Takumi Nakamura, Takashi Tsuboi, Tadafumi Kato, Toshifumi Suzuki, Hirotomo Saitsu, Mitsuko Nakashima, Takeshi Mizuguchi, Fumiaki Tanaka, Norio Mori, Norio Ozaki, Naomichi Matsumoto

Cell Rep   22 ( 3 )   734 - 747   2018.1

Sustained endocrine profiles of a girl with WAGR syndrome. Reviewed International journal

Yui Takada, Yasunari Sakai, Yuki Matsushita, Kazuhiro Ohkubo, Yuhki Koga, Satoshi Akamine, Michiko Torio, Yoshito Ishizaki, Masafumi Sanefuji, Hiroyuki Torisu, Chad A Shaw, Masayo Kagami, Toshiro Hara, Shouichi Ohga

BMC Med Genet   18 ( 1 )   117 - 117   2017.10

Calcineurin inhibitors exacerbate coronary arteritis via the MyD88 signalling pathway in a murine model of Kawasaki disease Reviewed International journal

K. Murata, Y. Motomura, T. Tanaka, S. Kanno, T. Yano, M. Onimaru, A. Shimoyama, H. Nishio, Y. Sakai, M. Oh-Hora, H. Hara, K. Fukase, H. Takada, S. Masuda, S. Ohga, S. Yamasaki, T. Hara

Clin Exp Immunol   190 ( 1 )   54 - 67   2017.10

Dysregulated gene expressions of MEX3D, FOS and BCL2 in human induced-neuronal (iN) cells from NF1 patients: a pilot study. Reviewed International journal

Noriaki Sagata, Takahiro A Kato, Shin-Ichi Kano, Masahiro Ohgidani, Norihiro Shimokawa, Mina Sato-Kasai, Kohei Hayakawa, Nobuki Kuwano, Ashley M Wilson, Koko Ishizuka, Shiori Kato, Takeshi Nakahara, Makiko Nakahara-Kido, Daiki Setoyama, Yasunari Sakai, Shouichi Ohga, Masutaka Furue, Akira Sawa, Shigenobu Kanba

Sci Rep   7 ( 1 )   13905 - 13905   2017.10

Disappearance of globus pallidum lesions in T1-weighted magnetic resonance images after ligation of congenital portosystemic venous shunt. Reviewed International journal

Ryuichi Takemoto, Kenichiro Yamamura, Hazumu Nagata, Naoki Kawaguchi, Yasunari Sakai, Toshiharu Matsuura, Tomoaki Taguchi, Shouichi Ohga

Pediatri Neonatol   58 ( 5 )   465 - 466   2017.10

A childhood-onset intestinal toxemia botulism during chemotherapy for relapsed acute leukemia. Reviewed International journal

Noriko Ohyama, Michiko Torio, Kentaro Nakashima, Yuuki Koga, Shunsuke Kanno, Hisanori Nishio, Kei Nishiyama, Momoko Sasazuki, Haru Kato, Hiroshi Asakura, Satoshi Akamine, Masafumi Sanefuji, Yoshito Ishizaki, Yasunari Sakai, Shouichi Ohga

Ann Clin Microbiol Antimicrob   16 ( 1 )   61 - 61   2017.9

Transient dysautonomia in an acute phase of encephalopathy with biphasic seizures and late reduced diffusion. Reviewed International journal

Yuko Ichimiya, Noriyuki Kaku, Yasunari Sakai, Fumiya Yamashita, Wakato Matsuoka, Mamoru Muraoka, Satoshi Akamine, Soichi Mizuguchi, Michiko Torio, Yoshitomo Motomura, Yuichiro Hirata, Yoshito Ishizaki, Masafumi Sanefuji, Hiroyuki Torisu, Hidetoshi Takada, Yoshihiko Maehara, Shouichi Ohga

Brain Dev   39 ( 7 )   621 - 624   2017.8

Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome. Reviewed International journal

Eri Imagawa, Ken Higashimoto, Yasunari Sakai, Chikahiko Numakura, Nobuhiko Okamoto, Satoko Matsunaga, Akihide Ryo, Yoshinori Sato, Masafumi Sanefuji, Kenji Ihara, Yui Takada, Gen Nishimura, Hirotomo Saitsu, Takeshi Mizuguchi, Satoko Miyatake, Mitsuko Nakashima, Noriko Miyake, Hidenobu Soejima, Naomichi Matsumoto

Hum Mutat   38 ( 6 )   637 - 648   2017.6

A nationwide survey of pediatric acquired demyelinating syndromes in Japan. Reviewed International journal

Yamaguchi Y, Torisu H, Kira R, Ishizaki Y, Sakai Y, Sanefuji M, Ichiyama T, Oka A, Kishi T, Kimura S, Kubota M, Takanashi J, Takahashi Y, Tamai H, Natsume J, Hamano S, Hirabayashi S, Maegaki Y, Mizuguchi M, Minagawa K, Yoshikawa H, Kira J, Kusunoki S, Hara T

Neurology   87 ( 19 )   2006 - 2015   2016.11

Involuntary movements and coma as the prognostic marker for acute encephalopathy with biphasic seizures and late reduced diffusion. Reviewed International journal

Lee S, Sanefuji M, Torio M, Kaku N, Ichimiya Y, Mizuguchi S, Baba H, Sakai Y, Ishizaki Y, Torisu H, Kira R, Hara T, Ohga S

J Neurol Sci   370   39 - 43   2016.11

Periodic Epileptiform Discharges in Children With Advanced Stages of Progressive Myoclonic Epilepsy. Reviewed International journal

Natsumi Isobe, Yasunari Sakai, Ryutaro Kira, Masafumi Sanefuji, Yoshito Ishizaki, Ayumi Sakata, Momoko Sasazuki, Michiko Torio, Satoshi Akamine, Hiroyuki Torisu, Toshiro Hara

Clin EEG Neurosci   47 ( 4 )   317 - 323   2016.10

De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis. Reviewed International journal

Kanemasa H, Fukai R, Sakai Y, Torio M, Miyake N, Lee S, Ono H, Akamine S, Nishiyama K, Sanefuji M, Ishizaki Y, Torisu H, Saitsu H, Matsumoto N, Hara T

BMC Neurol   16   174 - 174   2016.9

Corrigendum: Hyperactive mTOR signals in the proopiomelanocortin-expressing hippocampal neurons cause age-dependent epilepsy and premature death in mice. Reviewed International journal

Yuki Matsushita, Yasunari Sakai, Mitsunori Shimmura, Hiroshi Shigeto, Miki Nishio, Satoshi Akamine, Masafumi Sanefuji, Yoshito Ishizaki, Hiroyuki Torisu, Yusaku Nakabeppu, Akira Suzuki, Hidetoshi Takada, Toshiro Hara

Sci Rep   6   27164 - 27164   2016.6

De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures Reviewed International journal

Ryoko Fukai, Hirotomo Saitsu, Yoshinori Tsurusaki, Yasunari Sakai, Kazuhiro Haginoya, Kazumasa Takahashi, Monika Weisz Hubshman, Nobuhiko Okamoto, Mitsuko Nakashima, Fumiaki Tanaka, Noriko Miyake, Naomichi Matsumoto

J Immunol   61 ( 5 )   381 - 387   2016.5

Identifying diagnostically-relevant resting state brain functional connectivity in the ventral posterior complex via genetic data mining in autism spectrum disorder Reviewed International journal

Philip R. Baldwin, Kaylah N. Curtis, Michelle A. Patriquin, Varina Wolf, Humsini Viswanath, Chad Shaw, Yasunari Sakai, Ramiro Salas

Autism Res   9 ( 5 )   553 - 562   2016.5

De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia Reviewed International journal

Ryoko Fukai, Hirotomo Saitsu, Nobuhiko Okamoto, Yasunari Sakai, Aviva Fattal-Valevski, Shiina Masaaki, Yukihiro Kitai, Michiko Torio, Kanako Kojima-Ishii, Kenji Ihara, Veronika Chernuha, Mitsuko Nakashima, Satoko Miyatake, Fumiaki Tanaka, Noriko Miyake, Naomichi Matsumoto

J Hum Genet   61 ( 5 )   451 - 455   2016.5

Activation of Nod1 Signaling Induces Fetal Growth Restriction and Death through Fetal and Maternal Vasculopathy Reviewed International journal

Hirosuke Inoue, Hisanori Nishio, Hidetoshi Takada, Yasunari Sakai, Etsuro Nanishi, Masayuki Ochiai, Mitsuho Onimaru, Si Jing Chen, Toshiro Matsui, Toshiro Hara

J Immunol   196 ( 6 )   2779 - 2787   2016.3

Phenotypic spectrum of GNAO1 variants: Epileptic encephalopathy to involuntary movements with severe developmental delay Reviewed International journal

Hirotomo Saitsu, Ryoko Fukai, Bruria Ben-Zeev, Yasunari Sakai, Masakazu Mimaki, Nobuhiko Okamoto, Yasuhiro Suzuki, Yukifumi Monden, Hiroshi Saito, Barak Tziperman, Michiko Torio, Satoshi Akamine, Nagahisa Takahashi, Hitoshi Osaka, Takanori Yamagata, Kazuyuki Nakamura, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Masaaki Shiina, Kazuhiro Ogata, Naomichi Matsumoto

Eur J Hum Genet   24 ( 1 )   129 - 134   2016.1

Moyamoya disease susceptibility gene RNF213 links inflammatory and angiogenic signals in endothelial cells. Reviewed International journal

Ohkubo K, Sakai Y, Inoue H, Akamine S, Ishizaki Y, Matsushita Y, Sanefuji M, Torisu H, Ihara K, Sardiello M, Hara T

Sci Rep   5   13191 - 13191   2015.8

A case of pontine tegmental cap dysplasia with comorbidity of oculoauriculovertebral spectrum. Reviewed International journal

Chong PF, Haraguchi K, Torio M, Kirino M, Ogata R, Matsukura M, Sakai Y, Ishizaki Y, Yamamoto T, Kira R

Brain Dev   37 ( 1 )   171 - 174   2015.1

Kawasaki Disease-Specific Molecules in the Sera Are Linked to Microbe-Associated Molecular Patterns in the Biofilms Reviewed International journal

Takeshi Kusuda, Yasutaka Nakashima, Kenji Murata, Shunsuke Kanno, Hisanori Nishio, Mitsumasa Saito, Tamami Tanaka, Kenichiro Yamamura, Yasunari Sakai, Hidetoshi Takada, Tomofumi Miyamoto, Yumi Mizuno, Kazunobu Ouchi, Kenji Waki, Toshiro Hara

PLoS One   9 ( 11 )   2014.11

Altered strategy in short-term memory for pictures in children with attention-deficit/hyperactivity disorder: A near-infrared spectroscopy study Reviewed International journal

Masafumi Sanefuji, Hiroshi Yamashita, Hiroyuki Torisu, Yui Takada, Hisako Imanaga, Mayumi Matsunaga, Yoshito Ishizaki, Yasunari Sakai, Keiko Yoshida, Toshiro Hara

Psychiatr Res   223 ( 1 )   37 - 42   2014.7

Testicular sex cord-stromal tumor in a boy with 2q37 deletion syndrome Reviewed International journal

Yasunari Sakai, Ryota Souzaki, Hidetaka Yamamoto, Yuki Matsushita, Hazumu Nagata, Yoshito Ishizaki, Hiroyuki Torisu, Yoshinao Oda, Tomoaki Taguchi, Chad A. Shaw, Toshiro Hara

BMC Med Genomics   7   2014.4

Girl with a PRRT2 mutation and infantile focal epilepsy with bilateral spikes Reviewed International journal

Hiroyuki Torisu, Kyoko Watanabe, Keiko Shimojima, Midori Sugawara, Masafumi Sanefuji, Yoshito Ishizaki, Yasunari Sakai, Hironori Yamashita, Toshiyuki Yamamoto, Toshiro Hara

Brain Dev   36 ( 4 )   342 - 345   2014.4

Neuroendocrine phenotypes in a boy with 5q14 deletion syndrome implicate the regulatory roles of myocyte-specific enhancer factor 2C in the postnatal hypothalamus. Reviewed International journal

Sakai Y, Ohkubo K, Matsushita Y, Akamine S, Ishizaki Y, Torisu H, Ihara K, Sanefuji M, Kim MS, Lee KU, Shaw CA, Lim J, Nakabeppu Y, Hara T

Eur J Med Genet   56 ( 9 )   475 - 483   2013.9

Parental age and child growth and development: Child health check-up data Reviewed International journal

Mariko Iwayama, Ryutaro Kira, Naoko Kinukawa, Yasunari Sakai, Hiroyuki Torisu, Masafumi Sanefuji, Yoshito Ishizaki, Yoshiaki Nose, Toshimichi Matsumoto, Toshiro Hara

Pediatr Int   53 ( 5 )   709 - 714   2011.10

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders Reviewed International journal

Christian P. Schaaf, Aniko Sabo, Yasunari Sakai, Jacy Crosby, Donna Muzny, Alicia Hawes, Lora Lewis, Humeira Akbar, Robin Varghese, Eric Boerwinkle, Richard A. Gibbs, Huda Y. Zoghbi

Hum Mol Genet   20 ( 17 )   3366 - 3375   2011.9

Parental ages and the growth and development of children: a study from check-ups. Reviewed International journal

Iwayama M, Kira R, Kinukawa N, Sakai Y, Torisu H, Sanefuji M, Ishizaki Y, Nose Y, Matsumoto T, Hara T

Pediatr Int   2011.2

PD1 as a common candidate susceptibility gene of subacute sclerosing panencephalitis Reviewed International journal

Yoshito Ishizaki, Naoko Yukaya, Koichi Kusuhara, Ryutaro Kira, Hiroyuki Torisu, Kenji Ihara, Yasunari Sakai, Masafumi Sanefuji, Judy R. Pipo-Deveza, Catherine Lynn T. Silao, Benilda C. Sanchez, Marissa B. Lukban, Aida M. Salonga, Toshiro Hara

Hum Genet   127 ( 4 )   411 - 419   2010.4

Genetic susceptibility to febrile seizures: Case-control association studies Reviewed International journal

Ryutaro Kira, Yoshito Ishizaki, Hiroyuki Torisu, Masafumi Sanefuji, Megumi Takemoto, Kanji Sakamoto, Shigetaka Matsumoto, Yui Yamaguchi, Naoko Yukaya, Yasunari Sakai, Kenjiro Gondo, Toshiro Hara

Brain Dev   32 ( 1 )   57 - 63   2010.1

Interleukin-10 is associated with resistance to febrile seizures: Genetic association and experimental animal studies Reviewed International journal

Yoshito Ishizaki, Ryutaro Kira, Mitsumasa Fukuda, Hiroyuki Torisu, Yasunari Sakai, Masafumi Sanefuji, Naoko Yukaya, Toshiro Hara

Epilepsia   50 ( 4 )   761 - 767   2009.4

Association of toll-like receptor 3 gene polymorphism with subacute sclerosing panencephalitis Reviewed International journal

Yoshito Ishizaki, Megumi Takemoto, Ryutaro Kira, Koichi Kusuhara, Hiroyuki Torisu, Yasunari Sakai, Masafumi Sanefuji, Naoko Yukaya, Toshiro Hara

J Neurovirol   14 ( 6 )   486 - 491   2008.12

The relationship between retrieval success and task performance during the recognition of meaningless shapes: An event-related near-infrared spectroscopy study Reviewed International journal

Masafumi Sanefuji, Taisuke Nakashima, Ryutaro Kira, Mariko Iwayama, Hiroyuki Torisu, Yasunari Sakai, Toshiro Hara

Neurosci Res   59 ( 2 )   191 - 198   2007.10

The GT to GC single nucleotide polymorphism at the beginning of an alternative exon 2C of human MTH1 gene confers an amino terminal extension that functions as a mitochondrial targeting signal Reviewed International journal

Yasunari Sakai, Hisanobu Oda, Daisuke Yoshimura, Masato Furuichi, Dongchon Kang, Shigenori Iwai, Toshiro Hara, Yusaku Nakabeppu

J Mol Med   84 ( 8 )   660 - 670   2006.8

A novel R275X mutation of the SLC25A15 gene in a Japanese patient with the HHH syndrome. Reviewed International journal

Torisu H, Kira R, Kanazawa N, Takemoto M, Sanefuji M, Sakai Y, Tsujino S, Hara T

Brain Dev   28 ( 5 )   332 - 335   2006.6

Benign convulsion with mild gastroenteritis and benign familial infantile seizure. Reviewed International journal

Sakai Y, Kira R, Torisu H, Yasumoto S, Saito M, Kusuhara K, Hara T

Epilepsy Res   68 ( 3 )   269 - 271   2006.3

A novel transfection method for mammalian cells using gas plasma Reviewed International journal

Yasunari Sakai, Vahid Khajoee, Yasuhiro Ogawa, Koichi Kusuhara, Yoshiki Katayama, Toshiro Hara

J Biotechnol   121 ( 3 )   299 - 308   2006.2

Genetic susceptibility to simple febrile seizures: interleukin-1beta promoter polymorphisms are associated with sporadic cases. Reviewed International journal

Kira R, Torisu H, Takemoto M, Nomura A, Sakai Y, Sanefuji M, Sakamoto K, Matsumoto S, Gondo K, Hara T

Neurosci Lett   384   239 - 244   2005.8

Gene expression profiles in peripheral blood mononuclear cells from patients with subacute sclerosing panencephalitis using oligonucleotide microarrays. Reviewed International journal

Takemoto M, Kira R, Kusuhara K, Torisu H, Sakai Y, Hara T

J Neurovirol   11   299 - 305   2005.7

Structure of human MTH1, a Nudix family hydrolase that selectively degrades oxidized purine nucleoside triphosphates. Reviewed International journal

Mishima M, Sakai Y, Itoh N, Kamiya H, Furuichi M, Takahashi M, Yamagata Y, Iwai S, Nakabeppu Y, Shirakawa M

J Biol Chem   279 ( 32 )   33806 - 33815   2004.8

Functional MxA promoter polymorphism associated with subacute sclerosing panencephalitis. Reviewed International journal

Torisu H, Kusuhara K, Kira R, Bassuny WM, Sakai Y, Sanefuji M, Takemoto M, Hara T

Neurology   62   457 - 460   2004.2

An oxidized purine nucleoside triphosphatase, MTH1, suppresses cell death caused by oxidative stress. Reviewed International journal

Yoshimura D, Sakumi K, Ohno M, Sakai Y, Furuichi M, Iwai S, Nakabeppu Y

J Biol Chem   278 ( 39 )   37965 - 37973   2003.9

Founder effect of the C9 R95X mutation in Orientals. Reviewed International journal

Khajoee V, Ihara K, Kira R, Takemoto M, Torisu H, Sakai Y, Guanjun J, Hee PM, Tokunaga K, Hara T

Hum Genet   112   244 - 248   2003.3

Role of tryptophan residues in the recognition of mutagenic oxidized nucleotides by human antimutator MTH1 protein. Reviewed International journal

Masayuki Takahashi, Fabrice Maraboeuf, Yasunari Sakai, Hiroyuki Yakushiji, Masaki Mishima, Masahiro Shirakawa, Shigenori Iwai, Hiroshi Hayakawa, Mutsuo Sekiguchi, Yusaku Nakabeppu

J Mol Biology   319 ( 1 )   129 - 39   2002.5

Human APE2 protein is mostly localized in the nuclei and to some extent in the mitochondria, while nuclear APE2 is partly associated with proliferating cell nuclear antigen International journal

Daisuke Tsuchimoto, Daisuke Tsuchimoto, Yasunari Sakai, Yasunari Sakai, Kunihiko Sakumi, Kunihiko Sakumi, Kenichi Nishioka, Kenichi Nishioka, Masafumi Sasaki, Toshiyuki Fujiwara, Yusaku Nakabeppu, Yusaku Nakabeppu, Yusaku Nakabeppu

Nucleic Acids Res   29   2349 - 2360   2001.6

Intracellular Distribution of the Antimutagenic Enzyme MTH1 in the Liver, Kidney, and Testis of F344 Rats and its Modulation by Cadmium. International journal

K. S. Kasprzak, Y. Nakabeppu, Y. Nakabeppu, T. Kakuma, Y. Sakai, Y. Sakai, K. Tsuruya, M. Sekiguchi, J. M. Ward, B. A. Diwan, K. Nagashima, B. H. Kasprzak

Exp Toxicol Pathol   53(5), 325-336   325 - 335   2001.1

Trisomy 10 in a child with acute nonlymphocytic leukemia followed by relapse with a different clone Reviewed International journal

Yasunari Sakai, Hideki Nakayama, Akinobu Matsuzaki, Yoshihisa Nagatoshi, Aiko Suminoe, Keiko Honda, Takeshi Inamitsu, Shouichi Ohga, Toshiro Hara

Cancer Genet Cytogenet   115 ( 1 )   47 - 51   1999.11

Interferon-α therapy for chronic active Epstein-Barr virus infection: Potential effect on the development of T-lymphoproliferative disease Reviewed International journal

Yasunari Sakai, Shouichi Ohga, Yasuhiko Tonegawa, Hidetoshi Takada, Futoshi Nakao, Hideki Nakayama, Tomonobu Aoki, Shunji Yamamori, Toshiro Hara

J Pediatr Hematol Oncolog   20 ( 4 )   342 - 346   1998.7

乳児期発症のてんかん児に見いだされたデノボTRIM8変異とその遺伝的修飾因子

酒井 康成

日本小児神経学会  2015.5 

MAGEL2およびNF1遺伝子にデ・ノボ変異を認めたてんかん性脳症後の成人女性

酒井 康成

日本人類遺伝学会  2014.11 

一過性メチルマロン酸血症を呈したCDKL5脳症の男児例(A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia)

赤峰 哲, 石崎 義人, 酒井 康成, 鳥巣 浩幸, 深井 綾子, 三宅 紀子, 大久保 和宏, 實藤 雅文, 酒田 あゆみ, 木村 正彦, 山口 清次, 坂本 修, 才津 浩智, 松本 直通, 大賀 正一

脳と発達   2018.5

小児発症抗MOG抗体関連疾患患者の実態把握のための全国調査研究

東川 幸嗣, 中島 一郎, 金子 公彦, 鳥巣 浩幸, 酒井 康成, 吉良 龍太郎, 佐久間 啓, 田中 惠子, 中嶋 秀人, 島川 修一, 玉井 浩

脳と発達   2018.5

新生児臨床研究ネットワークデータベースに基づいた出生体重500g以下児の3歳時神経学的予後の調査

井上 普介, 松下 悠紀, 落合 正行, 石崎 義人, 實藤 雅文, 酒井 康成, 大賀 正一

脳と発達   2018.5

極低出生体重児に合併するてんかんの特徴

鳥尾 倫子, 落合 正行, 園田 有里, 石崎 義人, 實藤 雅文, 酒井 康成, 大賀 正一

脳と発達   2018.5

白血病の治療中に腸管定着型ボツリヌス症を発症した5歳男児

大山 紀子, 鳥尾 倫子, 中島 健太郎, 古賀 友紀, 西尾 壽乗, 神野 俊介, 酒井 康成, 加藤 はる, 朝倉 宏, 大賀 正一

日本小児科学会雑誌   2018.2

NRNデータベースから示される極低出生体重児の気管切開の危険因子

倉田 浩昭, 落合 正行, 井上 普介, 市山 正子, 安岡 和昭, 藤吉 順子, 松下 悠紀, 酒井 康成, 大賀 正一

日本小児科学会雑誌   2018.2

先天性門脈体循環シャントに合併した肺高血圧に対する閉鎖治療の効果

鵜池 清, 永田 弾, 藤井 俊輔, 松岡 良平, 江口 祥美, 村岡 衛, 福岡 将治, 長友 雄作, 大久保 一宏, 平田 悠一郎, 石井 加奈子, 酒井 康成, 大賀 正一, 松浦 俊治, 田口 智章

日本小児肺循環研究会プログラム・抄録集   2018.2

一般小児科外来における小児二次性頭痛の検討

園田 有里, 野田 麻里絵, 兒玉 志保, 武本 環美, 酒井 康成, 大賀 正一

日本頭痛学会誌   2017.11

白血病治療中に発症した腸管定着型ボツリヌス症

大山 紀子, 鳥尾 倫子, 古賀 友紀, 西尾 寿乗, 神野 俊介, 中島 健太郎, 實藤 雅文, 石崎 義人, 酒井 康成, 大賀 正一, 朝倉 宏, 加藤 はる

日本小児科学会雑誌   2017.10

白血病の治療中に腸管定着型ボツリヌス症を発症した5歳男児

大山 紀子, 鳥尾 倫子, 中島 健太郎, 古賀 友紀, 西尾 壽乗, 神野 俊介, 酒井 康成, 加藤 はる, 朝倉 宏, 大賀 正一

NEUROINFECTION   2017.9

咳嗽との鑑別を要し、自然軽快と再発を示した笑い発作の一例

鳥尾 倫子, 酒井 康成, 米元 耕輔, 石崎 義人, 實藤 雅文, 大賀 正一, 橋口 公章

てんかん研究   2017.9

Kawasaki disease: a matter of innate immunity

Hara T, Nakashima Y, Sakai Y, Nishio H, Motomura Y, Yamasaki S

Clin Exp Immunol (in press)   2017.6

腰椎腹腔シャント術を要した特発性頭蓋内圧亢進症の一例

米元 耕輔, 鳥尾 倫子, 酒井 康成, 空閑 大亮, 笹月 桃子, 石崎 義人, 實藤 雅文, 鳥巣 浩幸, 高田 英俊, 大賀 正一

脳と発達   2017.5

小児後天性脱髄症候群の多発性硬化症発症に関連する因子の検討

高田 結, 鳥巣 浩幸, 酒井 康成, 赤峰 哲, 鳥尾 倫子, 石崎 義人, 實藤 雅文, 笹月 桃子, 原 寿郎, 高田 英俊, 大賀 正一

脳と発達   2017.5

新生児臨床研究ネットワークデータベースに基づいた極低出生体重児の神経学的後遺症に関わる予後因子の解析

松下 悠紀, 落合 正行, 井上 普介, 米元 耕輔, 赤峰 哲, 石崎 義人, 實藤 雅文, 酒井 康成, 高田 英俊, 大賀 正一

脳と発達   2017.5

白血病治療中の5歳児に発症した成人腸管定着型ボツリヌス症

大山 紀子, 鳥尾 倫子, 加藤 はる, 酒井 康成, 實藤 雅文, 石崎 義人, 古賀 友紀, 鳥巣 浩幸, 大賀 正一

脳と発達   2017.5

笑い発作の自然軽快と再発を示したPallister-Hall症候群の一例

鳥尾 倫子, 酒井 康成, 米元 耕輔, 石崎 義人, 實藤 雅文, 笹月 桃子, 鳥巣 浩幸, 高田 英俊, 大賀 正一

脳と発達   2017.5

CHD2デノボ変異を認めたLennox-Gastaut症候群の13歳女児

赤峰 哲, 酒井 康成, 笹月 桃子, 鳥巣 浩幸, 實藤 雅文, 石崎 義人, 高田 英俊, 才津 浩智, 中島 光子, 松本 直通, 大賀 正一

てんかん研究   2017.1

早産極低出生体重児における3歳時てんかん発症率と周産期危険因子

松下 悠紀, 安岡 和昭, 田中 幸一, 菅 秀太郎, 倉田 浩昭, 井上 普介, 藤吉 順子, 落合 正行, 大賀 正一, 酒井 康成

日本新生児成育医学会雑誌   2016.11

Kawasaki disease: a matter of innate immunity

T. Hara, Y. Nakashima, Y. Sakai, H. Nishio, Y. Motomura, S. Yamasaki

Clinical and Experimental Immunology   2016.11

小児神経科医が知っておくべき遺伝学的検査シリーズ 先天性無虹彩症、成長不良および発達の遅れを示す10ヵ月女児

酒井 康成

脳と発達   2016.11

小児期発症の歯状核赤核淡蒼球ルイ体萎縮症4例のてんかんの臨床像

鳥尾 倫子, 酒井 康成, 實藤 雅文, 石崎 義人, 高田 英俊

てんかん研究   2016.9

CHD2デノボ変異を認めたLennox-Gastaut症候群の13歳女児

赤峰 哲, 酒井 康成, 笹月 桃子, 鳥巣 浩幸, 高田 英俊, 大賀 正一, 才津 浩智, 中島 光子, 松本 直通

てんかん研究   2016.9

驚愕反応、てんかん、不随意運動を呈しKCNH1新規デノボ変異を認めたTemple-Baraitser症候群の1例

赤峰 哲, 鳥尾 倫子, 酒井 康成

脳と発達   2016.5

けいれん発作を伴わず不随意運動が主体であったDRPLAの1例

鳥尾 倫子, 酒井 康成, 實藤 雅文, 石崎 義人, 鳥巣 浩幸, 高田 英俊

脳と発達   2016.5

重症心身障害児の諸症状に対する漢方治療による介入の経験

宮田 潤子, 貝沼 茂三郎, 江角 元史郎, 鳥尾 倫子, 酒井 康成, 永田 公二, 松浦 俊治, 木下 義晶, 田口 智章

日本小児外科学会雑誌   2016.2

もやもや病遺伝子RNF213は炎症性シグナルと血管新生をつなぐ分子である

大久保 一宏, 酒井 康成, 赤峰 哲, 石崎 義人, 松下 悠紀, 實藤 雅文, 鳥巣 浩幸, 井原 健二, 高田 英俊, 原 寿郎

日本小児科学会雑誌   2016.2

早産児infantile spasmsにおけるZonisamideの有効性

鳥尾 倫子, 實藤 雅文, 酒井 康成, 石崎 義人, 鳥巣 浩幸, 笹月 桃子, 高田 英俊

日本小児科学会雑誌   2016.2

遅発性拡散能低下を呈したshaken baby syndromeの10ヵ月女児

赤峰 哲, 李 守永, 酒井 康成

脳と発達   2016.1

ローランド発射が先行した若年性ミオクロニーてんかんの1例

石崎 義人, 酒井 康成, 實藤 雅文, 鳥尾 倫子, 赤峰 哲, 高田 英俊

てんかん研究   2016.1

早産児infantile spasmsにおける治療反応性の特徴

鳥尾 倫子, 實藤 雅文, 酒井 康成, 石崎 義人, 鳥巣 浩幸, 笹月 桃子, 高田 英俊

てんかん研究   2015.9

軟骨無形成症の児のチャイルドシート使用2例に関するinjury alert

二宮 崇仁, 金政 光, 平田 悠一郎, 松岡 若利, 李 守永, 賀来 典之, 中島 健太郎, 鳥尾 倫子, 酒井 康成, 石崎 義人, 實藤 雅文, 落合 正行, 原 寿郎, 橋口 公章

日本小児科学会雑誌   2015.8

発熱に伴い反復性の脱力と持続的な不随意運動を示した小児交互性片麻痺の1例

鳥尾 倫子, 酒井 康成, 實藤 雅文, 李 守永, 石崎 義人, 鳥巣 浩幸, 才津 浩智, 松本 直通, 原 寿郎

脳と発達   2015.7

難治性てんかんおよび重度精神遅滞を示す女性に見いだされたNF1およびMAGEL2ダブル変異と遺伝的相乗効果

赤峰 哲, 酒井 康成, 鳥尾 倫子, 石崎 義人, 實藤 雅文, 鳥巣 浩幸, 才津 浩智, 松本 直通, 原 寿郎

脳と発達   2015.5

乳児期発症のてんかん児に見いだされたde novo TRIM8変異とその遺伝的修飾因子

酒井 康成, 赤峰 哲, 實藤 雅文, 鳥尾 倫子, 石崎 義人, 才津 浩智, 鳥巣 浩幸, 松本 直通, 原 寿郎

脳と発達   2015.5

当院におけるウエスト症候群50例の検討

鳥尾 倫子, 酒井 康成, 實藤 雅文, 笹月 桃子, 石崎 義人, 鳥巣 浩幸, 原 寿郎

脳と発達   2015.5

熱性けいれん重積と急性脳症の鑑別における経時的脳波周波数解析の有効性の検討

李 守永, 酒井 康成, 實藤 雅文, 石崎 義人, 鳥尾 倫子, 鳥巣 浩幸, 原 寿郎

脳と発達   2015.5

自然免疫受容体Nod1のリガンドは母仔の血管病変を介してIUGRおよびIUFDをおこす

井上 普介, 西尾 寿乗, 高田 英俊, 酒井 康成, 名西 悦郎, 落合 正行, 原 寿郎

日本産婦人科・新生児血液学会誌   2015.5

日齢7に発症した乳児悪性焦点移動性部分てんかんの女児例

赤峰 哲, 酒井 康成, 鳥尾 倫子, 李 守永, 石崎 義人, 實藤 雅文, 才津 浩智, 松本 直通, 原 寿郎

脳と発達   2015.3

デノボNALCN変異を有し、特徴的顔貌、精神運動発達遅滞および高カルシウム血症を示した4歳女児

鳥尾 倫子, 酒井 康成, 松下 悠紀, 戸田 尚子, 井原 健二, 石崎 義人, 笹月 桃子, 原 寿郎

脳と発達   2015.3

てんかん発症2年後に出血性ショック脳症症候群を来した超低出生体重児の一例

赤峰 哲, 加藤 稚子, 李 守永, 酒井 康成, 原 寿郎

てんかん研究   2015.1

幼児期より両側頭頂側頭部に棘波を認めた、PRRT2変異を伴う部分てんかんの一例

鳥巣 浩幸, 渡辺 恭子, 下島 圭子, 島田 姿野, 實藤 雅文, 石崎 義人, 酒井 康成, 山本 俊至, 奥村 彰久, 原 寿郎

てんかん研究   2014.9

意識障害と広範な大脳白質病変を呈した家族性血球貪色症候群III型の15歳女児例

赤峰 哲, 黒川 麻里, 大場 詩子, 石村 匡崇, 瀧本 智仁, 石崎 義人, 古賀 友紀, 酒井 康成, 鳥巣 浩幸, 住江 愛子, 高田 英俊, 大賀 正一, 原 寿郎

脳と発達   2014.9

自験例2例を含む近年の小児期発症日本脳炎の報告

名西 悦郎, 保科 隆之, 西尾 壽乘, 門屋 亮, 酒井 康成, 大賀 正一, 原 寿郎

感染症学雑誌   2014.9

経過中に広範な白質病変が出現したミトコンドリアDNA枯渇症候群の女児例

園田 有里, 石崎 義人, 西尾 壽乘, 李 守永, 鳥尾 倫子, 礒部 菜摘, 實藤 雅文, 酒井 康成, 鳥巣 浩幸, 原 寿郎

脳と発達   2014.7

精神運動発達遅滞、てんかんの経過中にふらつきが出現した歯状核赤核淡蒼球ルイ体萎縮症の女児例

礒部 菜摘, 酒井 康成, 實藤 雅文, 石崎 義人, 鳥巣 浩幸, 原 寿郎

脳と発達   2014.7

神経芽腫に対する化学療法中に辺縁系脳炎をきたした1例

中島 健太郎, 加藤 稚子, 大場 詩子, 小野 宏彰, 古賀 友紀, 住江 愛子, 酒井 康成, 高田 英俊, 原 寿郎, 宗崎 良太, 木下 義晶, 田口 智章, 三好 きな, 孝橋 賢一, 小田 義直

日本小児血液・がん学会雑誌   2014.6

自験例2例を含む近年の小児期発症日本脳炎の報告

名西 悦郎, 保科 隆之, 西尾 壽乘, 門屋 亮, 酒井 康成

日本化学療法学会雑誌   2014.5

けいれん重積型脳症9例に対する治療および転帰に関する後方視的検討

李 守永, 鳥巣 浩幸, 石崎 義人, 實藤 雅文, 鳥尾 倫子, 酒井 康成, 原 寿郎

脳と発達   2014.5

PTEN遺伝子変異にともなう脳内トランスクリプトーム変化と治療標的の探索

酒井 康成

ライフサイエンス振興財団年報   2014.3

自閉症の神経科学的研究 自閉症発症に関与する分子シグナルの探索

酒井 康成

脳と発達   2013.5

PRRT2変異を有するICCA症候群家系に認めた、幼児期発症部分てんかんの一女児例

鳥巣 浩幸, 渡辺 恭子, 下島 圭子, 島田 姿野, 實藤 雅文, 石崎 義人, 酒井 康成, 山本 俊至, 奥村 彰久, 原 寿郎

脳と発達   2013.5

けいれん重積後より持続脳波モニタリングを行ったけいれん重積型脳症患者の脳波周波数解析

李 守永, 鳥巣 浩幸, 石崎 義人, 實藤 雅文, 酒井 康成, 原 寿郎

脳と発達   2013.5

亜急性硬化性全脳炎と麻疹ワクチン応答の個人差に関連する遺伝子多型についての検討

石崎 義人, 鳥巣 浩幸, 酒井 康成, 李 守永, 實藤 雅文, 原 寿郎

脳と発達   2013.5

日本脳炎経過中のMRI、SPECT、脳波所見 10歳男児例

礒部 菜摘, 鳥巣 浩幸, 實藤 雅文, 李 守永, 石崎 義人, 酒井 康成, 原 寿郎

脳と発達   2013.5

熱性けいれん重積とけいれん重積型脳症の鑑別における急性期脳波周波数解析

李 守永, 鳥巣 浩幸, 石崎 義人, 實藤 雅文, 酒井 康成, 原 寿郎

脳と発達   2013.5

特徴的顔貌、成長障害、精神運動発達遅滞、高カルシウム血症を呈した遠位関節拘縮症の女児例

鳥尾 倫子, 鳥巣 浩幸, 酒井 康成, 礒部 菜摘, 石崎 義人, 實藤 雅文, 原 寿郎

脳と発達   2013.5

脳血管周囲腔の拡張を認めたLoeys-Dietz症候群の男児例

鵜池 清, 松下 悠紀, 酒井 康成, 園田 有里, 石崎 義人, 実藤 雅文, 永田 弾, 山村 健一郎, 鳥巣 浩幸, 原 寿郎

日本小児科学会雑誌   2013.2

熱性けいれん後の意識障害と急性脳症の鑑別における急性期脳波の有効性

李 守永, 鳥巣 浩幸, 實藤 雅文, 石崎 義人, 酒井 康成, 原 寿郎

てんかん研究   2013.1

診断が困難であった日本脳炎の小児例

深澤 光晴, 實藤 雅文, 西山 慶, 李 守永, 鳥巣 浩幸, 石崎 義人, 酒井 康成, 原 寿郎

NEUROINFECTION   2012.10

アデノウイルス関連急性脳炎・心筋炎の6歳男児例

李 守永, 鳥巣 浩幸, 賀来 典之, 馬場 晴久, 石崎 義人, 實藤 雅文, 酒井 康成, 原 寿郎

NEUROINFECTION   2012.10

有熱時けいれん・意識障害を呈する小児における急性脳症の判別に関する検討

鳥巣 浩幸, 李 守永, 賀来 典之, 實藤 雅文, 石崎 義人, 酒井 康成, 馬場 晴久, 原 寿郎

NEUROINFECTION   2012.10

小児急性脳症と熱性けいれんの鑑別における初期脳波の有効性の検討

李 守永, 鳥巣 浩幸, 實藤 雅文, 石崎 義人, 山口 結, 酒井 康成, 板倉 朋子, 酒田 あゆみ, 原 寿郎

てんかん研究   2012.9

West症候群を発症したMCAP/MPPH症候群の乳児例

鳥巣 浩幸, 金城 唯宗, 實藤 雅文, 石崎 義人, 酒井 康成, 村上 信哉, 萩原 綱一, 板倉 朋子, 酒田 あゆみ, 原 寿郎

てんかん研究   2012.9

日本脳炎の10歳男児例

深澤 光晴, 實藤 雅文, 西山 慶, 李 守永, 石崎 義人, 鳥巣 浩幸, 酒井 康成, 原 寿郎

日本小児科学会雑誌   2012.8

熱性けいれん重積と急性脳症の鑑別における急性期脳波の有効性の検討

李 守永, 鳥巣 浩幸, 山口 結, 石崎 義人, 實藤 雅文, 酒井 康成, 原 寿郎

脳と発達   2012.5

Leigh脳症の経過中に神経原性肺水腫を呈した男児例

松尾 光通, 石崎 義人, 李 守永, 鳥尾 倫子, 山口 結, 實藤 雅文, 酒井 康成, 鳥巣 浩幸, 原 寿郎

脳と発達   2012.5

MEF2C遺伝子を含む染色体5q14.3領域の欠失を認めた重度精神遅滞の14歳男児例

酒井 康成, 鳥巣 浩幸, 實藤 雅史, 山口 結, 石崎 義人, 鳥尾 倫子, 磯部 菜採, 佐竹 宏之, 原 寿郎

脳と発達   2012.5

もやもや病感受性遺伝子RNF213の検討

石崎 義人, 鳥巣 浩幸, 酒井 康成, 實藤 雅文, 山口 結, 原 寿郎

脳と発達   2012.5

反復性過眠症の臨床的検討 インフルエンザと過眠症の関連

鳥尾 倫子, 鳥巣 浩幸, スビヤント・ケイジ, 實藤 雅文, 石崎 義人, 酒井 康成, 神林 崇, 權藤 健二郎, 原 寿郎

脳と発達   2012.5

急性中枢神経症状を呈する発熱小児における急性脳症の判別

鳥巣 浩幸, 李 守永, 山口 結, 石崎 義人, 實藤 雅文, 酒井 康成, 原 寿郎

脳と発達   2012.5

近赤外分光法による、無意味図形の想起の成功の研究 光路長の影響を受けにくい解析法

實藤 雅文, 吉良 龍太郎, 岩山 真理子, 酒井 康成, 鳥巣 浩幸, 原 寿郎

日本小児科学会雑誌   2007.4

NIRSによる、無意味図形の想起の成功の研究 光路長の影響を受けにくい解析法

實藤 雅文, 吉良 龍太郎, 鳥巣 浩幸, 酒井 康成, 原 寿郎

日本小児科学会雑誌   2007.2

軽症下痢に伴うけいれんを認めた良性家族性乳児けいれんの姉弟例

吉良 龍太郎, 酒井 康成, 鳥巣 浩幸, 齋藤 光正, 楠原 浩一, 原 寿郎, 安元 佐和

日本小児科学会雑誌   2006.9

脳機能と遺伝子多型の関連の研究 2.言語と転写因子(GTF2IRD1)

實藤 雅文, 武本 環美, 濱本 香織, 中島 大輔, 吉良 龍太郎, 鳥巣 浩幸, 酒井 康成, 岩山 真理子, 原 寿郎

脳と発達   2006.5

亜急性硬化性全脳炎におけるdsRNA認識関連分子の遺伝子多型解析

武本 環美, 楠原 浩一, 吉良 龍太郎, 鳥巣 浩幸, 石崎 義人, 酒井 康成, 原 寿郎

脳と発達   2006.5

新規NPC1遺伝子変異を認めた乳児期発症Niemann-Pick病C型の日本人同胞例

鳥巣 浩幸, 吉良 龍太郎, 高橋 勉, 由茅 直子, 酒井 康成, 武本 環美, 実藤 雅史, 石崎 義人, 原 寿郎

脳と発達   2006.5

気体プラズマを用いた新たな遺伝子導入法

酒井 康成, Vahid Khajoee, 小川 恭弘, 片山 佳樹, 楠原 浩一, 原 寿郎

日本小児科学会雑誌   2006.2

親の年齢と子どもの異常の関係 福岡市乳幼児健康診断のデータから

岩山 真理子, 吉良 龍太郎, 酒井 康成, 鳥巣 浩幸, 原 寿郎, 絹川 直子, 山田 知美, 野瀬 善明

日本小児科学会雑誌   2005.12

SSPEにおける末梢血単核球の網羅的遺伝子発現解析

武本 環美, 吉良 龍太郎, 楠原 浩一, 鳥巣 浩幸, 酒井 康成, 原 寿郎

NEUROINFECTION   2005.9

進行性の左片麻痺をきたした9歳男児例

原 卓也, 酒井 康成, 鳥巣 浩幸, 吉良 龍太郎, 原 寿郎

脳と発達   2005.7

PLP1遺伝子の完全欠失を認めるPelizaeus-Merzbacher病(PLP null症候群)の1男児例

鳥巣 浩幸, 吉良 龍太郎, 酒井 康成, 實藤 雅文, 原 寿郎, 岩城 明子, 竹下 研三

脳と発達   2005.7

脳機能と遺伝子多型の関連の研究 1.記憶と代謝型グルタミン受容体遺伝子多型

實藤 雅文, 濱本 香織, 吉良 龍太郎, 柴田 弘紀, 中島 大輔, 鳥巣 浩幸, 酒井 康成, 武本 環美, 岩山 真理子, 服巻 保幸, 原 寿郎

脳と発達   2005.5

PLP1遺伝子完全欠失によるPelizaeus-Merzbacher病(PLP null症候群)の男児例

鳥巣 浩幸, 吉良 龍太郎, 酒井 康成, 實藤 雅史, 武本 環美, 原 寿郎, 竹下 研三, 岩城 明子

脳と発達   2005.5

ミトコンドリア病における中脳・橋背側部病変の持続性MRI拡散強調画像

酒井 康成, 吉良 龍太郎, 鳥巣 浩幸, 原 寿郎

脳と発達   2005.5

幼児期より痙性麻痺が進行したKlinefelter症候群の1例

實藤 雅文, 權藤 健二郎, 鳥巣 浩幸, 酒井 康成, 吉良 龍太郎, 原 寿郎, 松本 健一, 岩城 徹

脳と発達   2005.3

The gene expression profiles in peripheral blood mononuclear cells from patients with subacute sclerosing panencephalitis using oligonucleotide microarrays

M Takemoto, R Kira, K Kusuhara, H Torisu, Y Sakai, T Hara

FASEB JOURNAL   2005.3

ウイルス感染と免疫 亜急性硬化性全脳炎の末梢血単核球における網羅的遺伝子発現解析

武本 環美, 吉良 龍太郎, 楠原 浩一, 鳥巣 浩幸, 酒井 康成, 原 寿郎

神経免疫学   2005.3

亜急性硬化性全脳炎における末梢血単核球遺伝子発現プロファイル解析

武本 環美, 吉良 龍太郎, 楠原 浩一, 鳥巣 浩幸, 酒井 康成, 原 寿郎

日本小児科学会雑誌   2005.3

乳児期発症Niemann-Pick病C型の1男児例

鳥巣 浩幸, 實藤 雅文, 酒井 康成, 竹本 環美, 吉良 龍太郎, 原 寿郎

脳と発達   2004.9

Hyperornithinemia-hyperammonemiahomocitrullinuria(HHH)症候群の同胞例

鳥巣 浩幸, 實藤 雅文, 酒井 康成, 武本 環美, 吉良 龍太郎, 原 寿郎

脳と発達   2004.9

亜急性硬化性全脳炎における遺伝子発現プロファイルとGranulysin遺伝子-189G/T多型解析

武本 環美, 吉良 龍太郎, 鳥巣 浩幸, 酒井 康成, 原 寿郎

脳と発達   2004.6

Klinefelter症候群に合併した,脊髄前角細胞の著明な脱落を伴った脊髄小脳変性症の小児例

實藤 雅文, 權藤 健二郎, 吉良 龍太郎, 鳥巣 浩幸, 酒井 康成, 原 寿郎

脳と発達   2004.6

MTH1は酸化ストレスによる細胞死を抑制する

作見 邦彦, 吉村 大輔, 古市 正人, 酒井 康成, 大野 みずき, 岩井 成憲, 中別府 雄作

日本癌学会総会記事   2003.8

単純型熱性けいれん感受性遺伝子の検討 Interleukin-1β遺伝子プロモーター多型は孤発例の発症に関与する

吉良 龍太郎, 武本 環美, 實藤 雅文, 鳥巣 浩幸, 酒井 康成, 野村 明彦, 原 寿郎

日本小児科学会雑誌   2003.6

亜急性硬化性全脳炎における抗ウイルス蛋白MxA遺伝子の解析

鳥巣 浩幸, Bassuny Wafaa Mohamed, 實藤 雅文, 武本 環美, 酒井 康成, 吉良 龍太郎, 楠原 浩一, 原 寿郎

日本小児科学会雑誌   2003.4

マウス新規AP endonuclease候補遺伝子APE2のクローニングと遺伝子欠損ES細胞株の樹立

井手康人, 冨永洋平, 土本大介, 酒井康成, 今磯泰幸, 中別府雄作

日本分子生物学会年会プログラム・講演要旨集   2000.11

インターフェロン-αが奏効した慢性活動性Epstein-Barrウイルス感染症の1例

酒井 康成

日本小児科学会雑誌   1997.5

The Japan Society of Human Genetics

The Japanese Society of Child Neurology

福岡臨床と脳波懇話会   世話人   Domestic

2013.4 - 2013.6   

福岡小児神経研究会   世話人   Domestic

2013.4 - 2013.6   

日本小児神経学会九州地方会   世話人   Domestic

2013.4 - 2013.6   

世話人

日本小児科学会福岡地方会  （ Japan ） 2014.12 - 2016.3

世話人

福岡小児神経研究会  （ Japan ） 2014.4 - 2016.3

世話人

日本小児神経学会九州地方会  （ Japan ） 2014.4 - 2016.3

座長（Chairmanship）

日本小児科学会福岡地方会  （ Japan ） 2011.10

皮質オルガノイドを用いたてんかん性脳症の収束的メカニズムおよび治療研究

Grant number：19K08281  2019 - 2021

Japan Society for the Promotion of Science  Grants-in-Aid for Scientific Research  Grant-in-Aid for Scientific Research (C)

患者由来直接誘導ニューロン・グリア細胞による精神神経疾患の病態解明：橋渡し研究

Grant number：18H04042  2018 - 2021

Japan Society for the Promotion of Science  Grants-in-Aid for Scientific Research  Grant-in-Aid for Scientific Research (C)

今回の研究では、川崎病患者105例の血清のリピドミクス解析を行い、川崎病関連28物質を同定した。

2018 - 2019

Grants-in-Aid for Scientific Research  Grants-in-Aid for Scientific Research (Ministry of Health, Labour and Welfare)

先天性門脈体循環シャント症候群を引き起こす遺伝的要因の解明

Grant number：17K10146  2017 - 2020

Japan Society for the Promotion of Science  Grants-in-Aid for Scientific Research  Grant-in-Aid for Scientific Research (C)

小児の脱髄性疾患の実態調査、診断ガイドラインの確立

2017 - 2019

Grants-in-Aid for Scientific Research  Grants-in-Aid for Scientific Research (Ministry of Health, Labour and Welfare)

研究助成「誘導皮質スフェロイドを用いた早期発症型てんかん性脳症の発症メカニズムと新規治療法の探索」

2017

重篤な疾患や障害をもつ子どもの延命に関わる治療方針決定について

Grant number：15K08555  2015 - 2017

Japan Society for the Promotion of Science  Grants-in-Aid for Scientific Research  Grant-in-Aid for Scientific Research (C)

Pten変異マウスを用いた新しいてんかん病理・治療モデルの確立

Grant number：15K09624  2015 - 2017

Japan Society for the Promotion of Science  Grants-in-Aid for Scientific Research  Grant-in-Aid for Scientific Research (C)

Pten変異マウスを用いた新しいてんかん病理・治療モデルの確立

Grant number：15K09624  2015 - 2017

Japan Society for the Promotion of Science  Grants-in-Aid for Scientific Research  Grant-in-Aid for Scientific Research (C)

小児の脱髄性疾患の実態調査、診断ガイドラインの確立

2015 - 2016

Grants-in-Aid for Scientific Research  Grants-in-Aid for Scientific Research (Ministry of Health, Labour and Welfare)

研究助成「てんかん性脳症に関与する収束的分子シグナルの解明」

2015

エキソーム解析と患者iPSC由来神経細胞を用いたSSPEの包括的な病態解析

Grant number：26461547  2014 - 2016

Japan Society for the Promotion of Science  Grants-in-Aid for Scientific Research  Grant-in-Aid for Scientific Research (C)

小児医学研究助成「SHANK3を中心とする自閉症関連分子シグナルの探索」

2013

精神遅滞関連タンパク質複合体による生後脳発達の制御メカニズムに関する研究

Grant number：24650199  2012 - 2014

Grants-in-Aid for Scientific Research  Grant-in-Aid for challenging Exploratory Research

精神遅滞関連タンパク質複合体による生後脳発達の制御メカニズムに関する研究

Grant number：24650199  2012 - 2014

Japan Society for the Promotion of Science  Grants-in-Aid for Scientific Research  Grant-in-Aid for Scientific Research (C)

研究助成「自閉症モデルにおける脳内シグナル伝達異常に関する研究」

2012

プロテオミクスによるウイルス関連脳症の病態特異的バイオマーカーの探索

Grant number：23591503  2011 - 2013

Japan Society for the Promotion of Science  Grants-in-Aid for Scientific Research  Grant-in-Aid for Scientific Research (C)

日本人自閉症児に見られる新規染色体コピー数変異の探索

Grant number：23810025  2011 - 2012

Grants-in-Aid for Scientific Research  Grant-in-Aid for Young Scientists (Start-up)

日本人自閉症児に見られる新規染色体コピー数変異の探索

Grant number：23810025  2011 - 2012

Japan Society for the Promotion of Science  Grants-in-Aid for Scientific Research  Grant-in-Aid for Scientific Research (C)

研究助成金「PTEN遺伝子変異にともなう脳内トランスクリプトーム変化と治療標的の探索」

2011

急性散在性脳脊髄炎における分子遺伝学的病態解析

Grant number：17591095  2005 - 2007

Japan Society for the Promotion of Science  Grants-in-Aid for Scientific Research  Grant-in-Aid for Scientific Research (C)

ナノ粒子を用いた遺伝子治療法の開発

Grant number：16659279  2004 - 2005

Japan Society for the Promotion of Science  Grants-in-Aid for Scientific Research  Grant-in-Aid for Scientific Research (C)

右脳・左脳の包括的遺伝子解析による高次機能発達機構の解明

Grant number：16591038  2004 - 2005

Japan Society for the Promotion of Science  Grants-in-Aid for Scientific Research  Grant-in-Aid for Scientific Research (C)

細胞内寄生性細菌に対する宿主反応の解析と細胞・遺伝子治療法の開発

Grant number：15390325  2003 - 2005

Japan Society for the Promotion of Science  Grants-in-Aid for Scientific Research  Grant-in-Aid for Scientific Research (C)

次世代遺伝子治療の開発

2002.4 - 2005.3

Joint research

臨床遺伝学

2016.10 - 2017.3   Second semester

基礎遺伝学

2016.4 - 2016.9   First semester

生命医科学入門

2015.10 - 2016.3   Second semester

基礎遺伝学

2015.4 - 2015.9   First semester

臨床遺伝学

2015.4 - 2015.9   First semester

臨床遺伝学

2014.10 - 2015.3   Second semester

小児科抄読会

2014.4 - 2015.3   Full year

小児神経学・代謝２

2014.4 - 2015.3   Full year

基礎配属・実習

2014.4 - 2014.9   First semester

臨床遺伝学

2013.10 - 2014.3   Second semester

小児科抄読会

2013.4 - 2014.3   Full year

基礎配属・実習

2013.4 - 2013.9   First semester

臨床遺伝学

2012.10 - 2013.3   Second semester

小児科抄読会

2012.4 - 2013.3   Full year

基礎配属・実習

2012.4 - 2012.9   First semester

基礎遺伝学

2011.10 - 2012.3   Second semester

臨床遺伝学

2011.10 - 2012.3   Second semester

基礎配属・実習

2011.4 - 2011.9   First semester

九州大学病院，学外病院での小児神経外来を担当． 福岡・糸島地区急患センターにて休日夜間診療．

2004