■ 学術雑誌
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原著
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1.
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OGURI Masayoshi, OKANISHI Tohru*, KUKI Ichiro, HAMANO Shin-Ichiro, UETA Ikuya, NAKAMURA Yuko, INABA Yuji, LEE Sooyoung, TAKANASHI Jun-Ichi, TOGAWA Masami, ONISHI Akinari, MAEGAKI Yoshihiro：
Automated differentiation of acute encephalopathy with biphasic seizures and late reduced diffusion and prolonged febrile seizures in acute phase.
Scientific Reports
15
(1)
：32948
, 2025.9
DOI:10.1038/s41598-025-17828-y
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2.
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HAMANAKA Kohei†, FUJITA Atsushi†, MIYATAKE Satoko†, MISAWA Kazuharu, KOSHIMIZU Eriko, UCHIYAMA Yuri, TSUCHIDA Naomi, SEYAMA Rie, SAKAMOTO Masamune, IWAMA Kazuhiro, NISHIMURA Naoto, UTSUNO Yasuhiro, FU Li, TAKIZAWA Marina, LIANG Qiaowei, ITAI Toshiyuki, SAIDA Ken, OHORI Sachiko, KAMEYAMA Shinichi, FUKUDA Hiromi, HAYASHI Yukina, INOUE Yuta, GOTO Tomohide, ICHIKAWA Kazushi, KUKI Ichiro, FUKUOKA Masataka, KIM Kiyohiro, SHIOHAMA Tadashi, SHIMODA Konomi, OTSUKA Kosuke, UEDA Yuki, CHO Kazutoshi, YUGE Kotaro, TACHI Nobutada, YOSHIDA Masaki, DAIDA Atsuro, HIRASAWA Kyoko, YANAGISHITA Tomoe, YAMAMOTO Toshiyuki, SHIRAI Kentaro, MEHR Fixler Tammar, VALEVSKI Aviva Fattal, LEV Dorit, YOKOYAMA Haruna, IWABUCHI Emi, SAITO Yoshihiko, MIURA Masaki, SUGAI Kenji, ISHIYAMA Akihiko, WATANABE Yoshihiro, TAKANASHI Jun-Ichi, KIM Chong Ae, YOKOCHI Kenji, TOHYAMA Jun, IZUMI Yuishin, HASEGAWA Yuiko, OKAMOTO Nobuhiko, IKEDA Takahiro, OSAKA Hitoshi, KAWAI Yosuke, OMAE Yosuke, MIZUGUCHI Takeshi†, MATSUMOTO Naomichi＊：
Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay.
NPJ genomic medicine.
60
：1-12
, 2025.8
DOI:10.1038/s41525-025-00521-4
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3.
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OMATA Taku†*, SAKUMA Hiroshi, NAGASE Hiroaki, ABE Yuichi, KUKI Ichiro, OKUMURA Akihisa, MAEGAKI Yoshihiro, MURAYAMA Kei, SAKAI Yasunari, HOSHINO Ai, MIZUGUCHI Masashi, TAKANASHI Jun-ichi：
National study on pediatric acute encephalopathy in Japan (April 2020 to October 2023): Insights from the third study.
Brain & development
47
(4)
：104387
, 2025.8
DOI:10.1016/j.braindev.2025.104387
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4.
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Kohta Nakamura†, Yoshihito Kishita, Atsuko Imai-Okazaki, Taku Omata, Maki Nodera, Yukiko Yatsuka, Ayumu Sugiura, Naoyuki Matsumoto, Holger Prokisch, Hiroshi Matsumoto, Akira Ohtake, Kei Murayama, Yasushi Okazaki*：
Identification of a pathogenic RNU4-2 variant in patients with mitochondrial disease: Broadening the spectrum of non-coding RNA gene variants in mitochondrial dysfunction.
Journal of human genetics
：10.1038/s10038-025-01356-8
, 2025.7
DOI:10.1038/s10038-025-01356-8
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総説及び解説
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1.
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髙梨潤一：
小児医療；COVID-19関連急性脳症.
東京女子医科大学雑誌
95(4)
：103-108
, 2025.8
DOI:10.24488/jtwmu.95.4_103
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2.
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Takanashi Jun-ichi：
Magnetic resonance imaging and spectroscopy in hypomyelinating leukodystrophy.
Brain & Development
47
：104345
, 2025.4
DOI:10.1016/j.braindev.2025.104345
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症例報告
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1.
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SANO Kentaro†, OMATA Taku*, SASAKI Yusuke, OCHIAI Kenta, SHIOTA Megumi, HIROSE Shoko, SHIRATO Yuri, MAURA Naoko, KIGAWA Takashi, HASE Ryota, NAGASE Hisashi, TAKAMOTO Masaya, NOROSE Kazumi, TAKANASHI Jun-ichi：
Successful treatment of infantile epileptic spasms syndrome caused by congenital toxoplasmosis with adrenocorticotropic hormone therapy: A case report.
Brain & Development
3
(3)
：100085
, 2025.9
DOI:10.1016/j.bdcasr.2025.100085
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2.
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SUGIYAMA Ryo, SHIMIZU-MOTOHASHI Yuko, SAKATA Yuka, OMATA Taku, TAKANASHI Jun-ichi, FURUKAWA Shogo, NAKASHIMA Mitsuko, SAITSU Hirotomo, SATO Noriko：
Muscle and thyroid manifestations in TANGO2 deficiency disorder: a case study of novel biallelic variants.
Brain & Development
47
：104442
, 2025.9
DOI:10.1016/j.braindev.2025.104442
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