■ Published papers
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Original article
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1.
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Kenko Azuma, Shiro Horisawa, Hideaki Mashimo, Mitsumasa Fukuda, Satoko Kumada, Takakazu Kawamata, Takaomi Taira, Hiroyuki Akagawa：
Loss-of-function mutations in SGCE found in Japanese patients with myoclonus-dystonia.
Clinical Genetics
：10.1111/cge.14233
, 2023.2
DOI:10.1111/cge.14233
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2.
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E. Akter, Y. Tasaki, Y. Mori, K. Nakai, K. Hachiya, H. Lin, M. Konno, T. Kamasaki, K. Tanabe, Y. Umeda, S. Yamano, Y. Fujita, S. Kon：
Non-degradable autophagic vacuoles are indispensable for cell competition.
Cell Reports
40
(9)
：111292
, 2022.8
DOI:https://doi.org/10.1016/j.celrep.2022.111292
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Case report
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1.
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Emi Nomura, Yoshio Omote, Mami Takemoto, Nozomi Hishikawa, Yumiko Nakano, Taijun Yunoki, Ryuta Morihara, Tatsuya Sasaki, Hiroyuki Akagawa, Koji Abe, Toru Yamashita：
A Japanese case of successful surgical resection of cerebral cavernous malformations with a CCM2 mutation.
NEUROLOGY AND CLINICAL NEUROSCIENCE
：10.1111/ncn3.12649
, 2022.6
DOI:10.1111/ncn3.12649
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2.
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Ayako Chida-Nagai, Ichizo Tsujino, Satoshi Yakuwa, Hiroyuki Akagawa, Takao Tsujioka, Kota Taniguchi, Osamu Sasaki, Gaku Izumi, Hirokuni Yamazawa, Atsuhito Takeda：
A cardiac arrest case due to left coronary artery compression in congenital heart disease-associated pulmonary arterial hypertension.
CJC Pediatric and Congenital Heart Disease
：10.1016/j.cjcpc.2022.04.004
, 2022.5
DOI:https://doi.org/10.1016/j.cjcpc.2022.04.004
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■ Academic conference presentation
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1.
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Tanabe Kenji：
Image-based phenotypic profiling of a chemogenomic screening library identifies novel druggable targets in the EGFR-pathway.
Cell Bio 2022,
Washington DC, USA,
2022/12
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2.
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◎末吉 亮, 古橋 七海, 石井 惇也, 川上 万留実, 田邊 賢司, ◎世川 修：
DECREASE IN LIVER DAMAGE IN RAT MODELS OF SHORT BOWEL SYNDROME THROUGH DPP4 INHIBITION.
35th International Symposium on Pediatric Surgical Research,
大阪市,
2022/10
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3.
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Higuchi Sayaka, Kezuka Yukiko, Mitani Shohei：
The investigation of changing effects of Yoga therapy on psychological and gene expression states of healthy subjects.
The 19th Congress of the Asian College of Psychosomatic Medicine.,
IRKUTSK, RUSSIA.,
2022/08
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4.
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赤川浩之, 前川達哉, 恩田英明, 糟谷英俊：
日本人脳動脈瘤罹患家系の全エクソーム解析による新規感受性遺伝子の同定.
日本人類遺伝学会第67回大会,
横浜,
2022/12
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5.
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赤川 浩之、前川 達哉、恩田 英明、糟谷 英俊、久保田 有一：
日本人脳動脈瘤家系に対する全エクソーム解析と新規感受性遺伝子の同定.
第22回日本分子脳神経外科学会,
金沢,
2022/07
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6.
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中村 彰一、赤川 浩之、野村 俊介、成相 直、原 祥子、Thamamongood Thiparpa、川俣 貴一：
もやもや症候群の全エクソーム解析.
第22回日本分子脳神経外科学会,
金沢,
2022/07
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7.
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中村彰一，赤川浩之，堀澤士郎，平孝臣，川俣貴一：
次世代シーケンサーによる有棘赤血球舞踏病の確定診断～VPS13A新規変異の発見～.
CNTT2022 第31回脳神経外科手術と機器学会,
東京,
2022/04
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