Academic yr: <<< Previous 2023 2024 2025
 Department of Pediatrics
Summary Research grants & projects Social activities
Published papers Books Academic conference presentation


Professor:

   NAGATA Satoru
Associate Professor:
   ISHIGAKI Keiko
Assistant Professor:
   ITOU Yasushi
   KISHI Takayuki
Assistant Professor:
   ITOU Susumu
   ISHIGURO Kumiko
   OOKAWA Takuya
   KIHARA Yuuki
   SATOU Takatoshi
   SHICHIJI Minobu
   SHIMIZU Reiko
   SUZUKI Yuki
   TAKESHITA Akiko
   TACHIKAWA Emiko


   CHIBA Yukihide
   NAKATSUKASA Hidetsugu
   HAICHI Aiko
   HASHIDZUME Takuma
   MURAKAMI Terumi
   YANAGISHITA Tomoe
   YAMAMOTO Youko
   SATOU Yuuya
Research Associate:
   OGAWA Yuriko
■ Summary
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■ Research grants & projects
1.    (Grant No.:25ek0109611h0004)
 Budget amount:\57,210,000  (Principal investigator)
2.    (Grant No.:25ek0109611h0004)
 Budget amount:\0  (Co-investigator)
3.    (Grant No.:25ek0109611h0004)
 Budget amount:\0  (Co-investigator)
4.    (Grant No.:25ek0109611h0004)
 Budget amount:\0  (Research collaborator)
5.    (Grant No.:25ek0109611h0004)
 Budget amount:\0  (Research collaborator)
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■ Social activities
1.  NAGATA Satoru
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■ Research works
Journal Book Presentation Other presentations
JapaneseEnglish JapaneseEnglish Domesticinternational
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Co-author First authorCo-authorFirst authorCo-author PresenterCo-presenterPresenterCo-presenter PresenterCo-presenter
 0 0 4 4 4 4  0 5 0 0  27 10  0 0  31 7
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■ Published papers
Original article
1. MURAKAMI Terumi, SATOU Takatoshi, ISHIZUKA Takami , NAKANURA Harumasa, TACHIMORI Hisateru , HARADA Hiroko, OI Hideki, HATANO Kenji, OBA Mari S, ISHIGURO Kumiko, SHICHIJI Minobu, KIHARA Yuuki, TAKESHIMA Yasuhiro, TANIGUCHI-IKED Mariko, HATTORI Ayako, SHIMIZU-MOTOHASHI Yuko, AWAN Hiroyuki, BO Ryosuke, ISHIGAKI Keiko*, NAGATA Satoru:  Nonrandomized Allocation of Steroid Therapy in Patients With Fukuyama Congenital Muscular Dystrophy: Study Protocol for a Phase II Clinical Trial.  Neuropsychopharmacology Repts  45 (3) :e70043 , 2025.9   DOI:10.1002/npr2.70043
2. Hamanaka K, Fujita A, Miyatake S, Misawa K, Koshimizu E,Uchiyama Y, Tsuchida N, Seyama R, Sakamoto M, Iwama K, Nishimura N, Utsuno Y, Fu L, Takizawa M, Liang Q, Itai T, Saida K, Ohori S, Kameyama S, Fukuda H, Hayashi Y, Inoue Y, Goto T, Ichikawa K, Kuki I, Fukuoka M, Kim K, Shiohama T, Shimoda K, Otsuka K, Ueda Y, Cho K, Yuge K, Tachi N, Yoshida M, Daida A, Hirasawa K, Yanagishita T, Yamamoto T, Shirai K, Mehr TF, Fattal-Valevski A, Lev D, Yokoyama T, Iwabuchi E, Saito Y, Miura M, Sugai K, Ishiyama A, Sasaki M, Watanabe Y, Takanashi J-I, Kim CA, Yokochi K, Tohyama J, Mori T, Izumi Y, Hasegawa Y, Okamoto N, Ikeda T, Osaka H, Kawai Y, Omae Y, Tokunaga K, Kato M, Mizuguchi T, Matsumoto N.:  Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay.  npj Genomic Medicine  10 :60 , 2025.8   DOI:10.1038/s41525-025-00521-4 Link
3. KIHARA Yuki*, IKEDA Masanori, TAKAGI Riyou, ISHIGAKI Keiko, YAMANOUCHI Keitaro, NAGATA Satoru, YAMATO Masayuki:  Continuous adipose-derived stem cell therapy from the neonatal stage effectively reduces Duchenne muscular dystrophy symptoms in rats.  Stem cell research & therapy  16 (1) :452 , 2025.8   DOI:10.1186/s13287-025-04594-x
4. YAMAMOTO Atsushi, NAGAO Michinobu, ISHIGAKI Keiko, SHICHIJI Minobu, KIHARA Yuuki, SAKAI Akiko, MINAMI Yuuichirou, GOTOU Yasuhiro, YONEYAMA Masami, SAKAI Shiyuuji, YAMAGUCHI Jiyun'ichi:  Myocardial injury in Duchenne muscular dystrophy: assessment via cardiac magnetic resonance intra-voxel incoherent motion.  Heart and Vessels  40 (8) :in press , 2025.7   DOI:10.1007/s00380-025-02580-0
5. SATOU Takatoshi, KIHARA Yuuki, SHICHIJI Minobu, ISHIGURO Kumiko, MURAKAMI Terumi, NAGATA Satoru, SHIMADA Eriko, INAI Kei, TAKEDA Atsuhito, ISHIGAKI Keiko:  Cross-Sectional Study of the Association Between Plasma Brain Natriuretic Peptide Levels and Left Ventricular Shortening Fraction in Fukuyama Congenital Muscular Dystrophy.  The Tohoku Journal of Experimental Medicine  266 (1) :81-85 , 2025.5   DOI:10.1620/tjem.2024.J137
Review article
1. 村上てるみ, 石垣景子, 大澤眞木子:  レジェンドアーカイブ
史料小委員会レジェンドアーカイブ企画2
レジェンドの軌跡:福山幸夫.  脳と発達  57 (6) :451-454 , 2025.11
2. ISHIGAKI Keiko, TANIGUCHI-IKEDA Mariko:  Fukuyama congenital muscular dystrophy: Clinical features and therapeutic advances.  Brain & Development  47 (5) :104437 , 2025.9   DOI:10.1016/j.braindev.2025.104437
3. Shimomura R*, Kihara Y, Yanagishita T, Ishiguro K, Shichiji M, Sato T, Shimojima Yamamoto K, Ishihara Y, Nasgata M, Miyashita Y, Asano Y, Ishigaki K, Nagata S, Yamamoto T:  Challenges in genetic counseling for RYR1-related myopathies.  Brain & Development  47 (3) :104363 , 2025.6   DOI:DOI: 10.1016/j.braindev.2025.104363 Link
Case report
1. Otsuka M, Nagaki S*, Eto K, Ito Y, Sakuraba H, Itoh K, Yamamura H, Inai K, Osawa M, Nagata S:  Sialidosis type1 with cardiac malformation: A case report.  Brain and Development Case Reports  3 (3) :100097 , 2025.9   DOI:10.1016/j.bdcasr.2025.100097
Other
1. 石垣景子, 星野恭子:  <序文>
小児の不眠
ー眠れない子ども、眠らない子どもへの対策ー.  小児科診療  88 (10) :1259-1259 , 2025.10
2. 伊藤進,是松聖悟:  園・学校等におけるけいれん・てんかん児の発作対応フローチャートと生活指導箋.  日本医師会雑誌  154 (7) :752-753 , 2025.10
3. 石垣景子, 青木吉嗣, 竹下絵里, 李知子:  座談会:年少デュシェンヌ型筋ジストロフィー患者へのジルトラルセン治療について考える.  MD Frontier  8 (増刊号) :1-11 , 2025.8
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■ Books
1. 石垣景子:  神経・筋疾患
脊髄性筋萎縮症.  リハビリテーションテキスト 小児科学  141-142.  株式会社メジカルビュー社,  東京, 2025.12
2. 伊藤進,是松聖悟:  学校におけるけいれん・てんかん児の発作対応フローチャートと生活指導箋.  学校保健第373号  8-10.  日本学校保健会,  東京, 2025.7
3. 伊藤進:  4-2 結節性硬化症の薬剤抵抗性てんかんとなる患者の特徴は何か.  結節性硬化症に伴うてんかんの治療ガイドライン2025  51-53.  診断と治療社,  東京, 2025.6
4. 伊藤進:  5-4 結節性硬化症に伴う乳児てんかん性スパズム症候群(West症候群)において,ビガバトリンは有用か.  結節性硬化症に伴うてんかんの治療ガイドライン2025  67-70.  診断と治療社,  東京, 2025.6
5. 伊藤進:  てんかんのお医者さん.  波2025年6月号  17.  日本てんかん協会,  東京, 2025.6
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■ Academic conference presentation
1. Shirai H, Aoki Y, Shimomura R, Yanagishita T, Ishigaki K, Shimojima K, Hoshino K, Yamamoto T: Recurrent SOX5 variant identified in a patient with Lamb-Shaffer syndrome.  日本人類遺伝学会第70回大会,  横浜,  2025/12
2. ◎Aoki Y, Shirai H, Shimojima K, Satou T, Ishijaki K, Yamamoto T: HyperCKemia caused by a loss-of-function variant in DAG1.  日本人類遺伝学会第70回大会,  横浜,  2025/12
3. ◎SHIMOMURA Rina, KIHARA Yuuki, ISHIGURO Kumiko, SHICHIJI Minobu, SATOU Takatoshi, SHIMOJIMA YAMAMOTO Keiko, ISHIGAKI Keiko, NAGATA Satoru, YAMAMOTO Toshiyuki: A 12-year-old girl with a novel ITGA7 homozygous variant with ankle flexion limitation as the primary symptom.  日本人類遺伝学会第70回大会,  Yokohama,  2025/12
4. ◎UEDA Megumi, YANAGISHITA Tomoe, SHIMOMURA Rina, ISHIGAKI Keiko, NAGATA Satoru, ASANO Yoshihiro, YAMAMOTO Toshiyuki: De novo loss-of-function heterozygous variant in SETD1B identified in a patient With psychomotor developmental delay.  日本人類遺伝学会第70回大会,  Yokohama,  2025/12
5. ◎YANAGISHITA Tomoe, SHIMOMURA Rina, TAKESHITA Akiko, HIRASAWA Kiyouko, HAMANAKA Kohei, MIYATAKE Satoko, NAGATA Satoru, MATSUMOTO Naomichi , YAMAMOTO Toshiyuki: Compound heterozygous variants of PNPT1 identified in a patient with severe neurodevelopmental dalay.  日本人類遺伝学会第70回大会,  Yokohama,  2025/12
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