■ Published papers
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Original article
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1.
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Shunsuke Nomura, Hiroyuki Akagawa, Koji Yamaguchi, Kenko Azuma, Akikazu Nakamura, Atsushi Fukui, Fumiko Matsuzawa, Yasuo Aihara, Tatsuya Ishikawa, Yosuke Moteki, Kentaro Chiba, Kazutoshi Hashimoto, Shuhei Morita, Taichi Ishiguro, Yoshikazu Okada, Sandra Vetiska, Hugo Andrade-Barazarte, Ivan Radovanovic, Akitsugu Kawashima, Takakazu Kawamata：
Difference in Clinical Phenotype, Mutation Position, and Structural Change of RNF213 Rare Variants Between Pediatric and Adult Japanese Patients with Moyamoya Disease.
Translational stroke research
15
(6)
：1142-1153
, 2024.12
DOI:10.1007/s12975-023-01194-w
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Akikazu Nakamura, Shunsuke Nomura, Shoko Hara, Thiparpa Thamamongood, Taketoshi Maehara, Tadashi Nariai, Shasha Khairullah, Kay Sin Tan, Kenko Azuma, Ayako Chida-Nagai, Yoshiyuki Furutani, Takahiro Hori, Koji Yamaguchi, Takakazu Kawamata, Constantin Roder, Hiroyuki Akagawa：
Whole-exome sequencing reveals the genetic causes and modifiers of moyamoya syndrome.
Scientific reports
14
(1)
：22720
, 2024.10
DOI:10.1038/s41598-024-72043-5
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3.
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Naoto Sugeno, Satoko Kumada, Hirofumi Kashii, Jun Ikezawa, Toshitaka Kawarai, Takaaki Nakamura, Ako Miyata, Shun Ishiyama, Kazuki Sato, Shun Yoshida, Hutoshi Sekiguchi, Kohei Hamanaka, Satoko Miyatake, Noriko Miyake, Naomichi Matsumoto, Hiroyuki Akagawa, Kenjiro Kosaki, Hiroshi Yoshihashi, Takafumi Hasegawa, Masashi Aoki：
Reduced histone H3K4 trimethylation in oral mucosa of patients with DYT-KMT2B.
Parkinsonism & related disorders
124
：107018
, 2024.7
DOI:10.1016/j.parkreldis.2024.107018
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4.
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Ushio Yusuke, Kataoka Hiroshi, Akagawa Hiroyuki, Sato Masayo, Manabe Shun, Kawachi Keiko, Makabe Shiho, Akihisa Taro, Seki Momoko, Teraoka Atsuko, Iwasa Naomi, Yoshida Rie, Tsuchiya Ken, Nitta Kosaku, Hoshino Junichi, Mochizuki Toshio：
Factors associated with early-onset intracranial aneurysms in patients with autosomal dominant polycystic kidney disease.
Journal of nephrology
37
(4)
：983-992
, 2024.5
DOI:10.1007/s40620-023-01866-8
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5.
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Ayako Chida-Nagai, Hiroyuki Akagawa, Saori Sawai, Yue-Jiao Ma, Satoshi Yakuwa, Jun Muneuchi, Kazushi Yasuda, Hirokuni Yamazawa, Toshiyuki Yamamoto, Emi Takakuwa, Utano Tomaru, Yoshiyuki Furutani, Tatsuya Kato, Gen Harada, Kei Inai, Toshio Nakanishi, Atsushi Manabe, Atsuhito Takeda, Zhi-Cheng Jing：
Identification of Prostaglandin I2 Synthase Rare Variants in Patients With Williams Syndrome and Severe Peripheral Pulmonary Stenosis.
Journal of the American Heart Association
13
(9)
：e032872
, 2024.5
DOI:10.1161/JAHA.123.032872
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HATTORI Motoshi*, ISHIZUKA Kiyonobu, KANDA Shoichiro, MIURA Kenichiro, SHIRAI Yoko†, ANDO Taro, ITO Naoko, TANABE Kenji, HASHIMOTO Junya, HAMASAKI Yuko, HOTTA Kiyohiko, HONDA Kazuho, TAKANO Tomoko：
A multi-institutional study found a possible role of anti-nephrin antibodies in post-transplant focal segmental glomerulosclerosis recurrence.
Kidney international
105
：608-617
, 2024
DOI:10.1016/j.kint.2023.11.022
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Display 5 items
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Display all(6)
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Case report
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Momo Uchida, Shiro Horisawa, Kenkou Azuma, Hiroyuki Akagawa, Shinichi Tokushige, Takakazu Kawamata, Takaomi Taira：
Thalamic Deep Brain Stimulation for SPG56-Related Focal Hand Dystonia.
Journal of movement disorders
17
(4)
：447-449
, 2024.10
DOI:10.14802/jmd.24022
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■ Academic conference presentation
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1.
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Nagai A, Akagawa H, Sawai S, Kato T, Yakuwa S, Muneuchi J, Yasuda K, Yamazawa H, Yamamoto T, Takamuwa E, Tomaru U, Furutani Y, Harada G, Inai K, Nakanishi T, Manabe J, Takeda A.：
Identification of PTGIS variants in patients with Williams syndrome and severe peripheral pulmonary stenosis.
日本人類遺伝学会第69回大会,
札幌,
2024/10
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