Rchr
J-GLOBAL ID：201801003007830928
Update date: Apr. 15, 2024
Ishiura Hiroyuki
イシウラ ヒロユキ | Ishiura Hiroyuki
Affiliation and department：
Job title：
Professor
Research field (1)：
Neurology
Research keywords (3)：
Next-generation sequencer
, repeat expansion diseases
, Neurogenetics
Research theme for competitive and other funds (12)：
- 2023 - 2027 Research on neurodegenerative disorders
- 2022 - 2025 comprehensive search for expanded repeats in neurodegenerative diseaess
- 2020 - 2023 Revealing pathogenesis of noncoding repeat expansion diseases using long-read sequencing
- 2019 - 2022 Exploring rare variants associated with Alzheimer disease
- 2019 - 2022 Role of immune checkpoint molecules and macrophages in inflammatory myopathies
- 2018 - 2020 Toward pathogenesis of noncoding repeat expansion disease focusing on RNA toxicity
- 2017 - 2020 Comprehensive whole genome sequence analysis using a long read sequencer for delineating molecular mechanism of neurological diseases
- 2015 - 2019 Gene expression profiling of inflammatory myopathy in correlation with autoantibodies
- 2015 - 2017 Comprehensive whole genome sequence analysis using a long read sequencer for delineating molecular mechanism of neurological diseases
- 2014 - 2017 Expression profiling of inclusion body myositis by massive parallel sequencing
- 2012 - 2014 Identification of causative gene for autosomal recessive hereditary spastic paraplegia
- 2010 - 2011 遺伝性痙性対麻痺と紀伊筋萎縮性側索硬化症・パーキンソン認知症複合の遺伝子解析研究
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Papers (220)：
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Yoko Tsuboyama, Akiko Takahashi, Sawako Furukawa, Asem Almansour, Masashi Hamada, Akatsuki Kubota, Jun Shimizu, Makoto Kinoshita, Chisato Fujimoto, Jun Mitsui, et al. RFC1-related disorder presenting recurrent syncope. Journal of neurology. 2024
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Hiroya Naruse, Hiroyuki Ishiura, Kayoko Esaki, Jun Mitsui, Wataru Satake, Peter Greimel, Nanoka Shingai, Yuka Machino, Yasumasa Kokubo, Hirotoshi Hamaguchi, et al. SPTLC2 variants are associated with early-onset ALS and FTD due to aberrant sphingolipid synthesis. Annals of clinical and translational neurology. 2024
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Kai Funakawa, Masanori Kurihara, Kensuke Takahashi, Mana Higashihara, Manato Hara, Akihiko Mitsutake, Hiroyuki Ishiura, Aya Midori Tokumaru, Masahiro Sonoo, Shigeo Murayama, et al. Proximal sensory neuropathy and cerebellar ataxia as presenting symptoms of NOTCH2NLC-related neuronal intranuclear inclusion disease. Journal of the neurological sciences. 2024. 122915-122915
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Nakamura Natsuko, Tsunoda Kazushige, Mitsutake Akihiko, Shibata Shota, Ishiura Hiroyuki, Maeda Meiko, Hamada Masashi, Satake Wataru, Tsuji Shoji, Toda Tatsushi, et al. 成人発症の神経核内封入体病関連網膜症患者の臨床的および電気生理学的特徴(Clinical and electrophysiological characteristics of patients with adult-onset neuronal intranuclear inclusion disease related retinopathy). 眼科臨床紀要. 2023. 16. 12. 891-891
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Saki Nakashima, Masashi Hamada, Tomohiko Kimura, Shuichi Tanifuji, Akiko Takahashi, Daiki Yashita, Yu Kakimoto, Takashi Matsukawa, Hiroyuki Ishiura, Tatsushi Toda. Case Report: Intraventricular Cerliponase Alfa Treatment in a Patient with Advanced Neuronal Ceroid Lipofuscinosis Type 2. Internal medicine (Tokyo, Japan). 2023
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MISC (260)：
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中村奈津子, 中村奈津子, 角田和繁, 光武明彦, 光武明彦, 柴田頌太, 前田明子, 濱田雅, 佐竹渉, 石浦浩之, et al. 神経核内封入体病関連網膜症におけるリピート数と重症度の相関. 日本網膜硝子体学会総会プログラム・講演抄録集. 2023. 62nd
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光武明彦, 松川敬志, 石浦浩之, 石浦浩之, 岩田信恵. CGGリピート病の遺伝学的検査パイプラインの確立. 国際医療福祉大学学会誌. 2023. 28
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中村歩美, 成瀬紘也, 光武明彦, 石浦浩之, 三井純, 張香理, 森下真一, 岩越美恵, 岩越美恵, 辻省次, et al. 遺伝性痙性対麻痺におけるATL1の新規de novo変異の同定と臨床像の検討. 日本神経学会学術大会プログラム・抄録集. 2023. 64th
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舟川開, 栗原正典, 高橋健祐, 小松大樹, 波多野敬子, 井原涼子, 東原真奈, 仁科裕史, 徳丸阿耶, 原愛徒, et al. 成人発症NOTCH2NLC関連神経核内封入体病における感覚障害・小脳性運動失調の検討. 日本神経学会学術大会プログラム・抄録集. 2023. 64th
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音成秀一郎, 音成秀一郎, 人見健文, 戸島麻耶, 小林勝哉, 石浦浩之, 石浦浩之, 池田昭夫. BAFMEでの皮質興奮性における経時的進行の変性機構の解明:分子遺伝子学的・電気生理学的検討. 臨床神経生理学(Web). 2023. 51. 2
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Education (2)：
- 2007 - 2011 The University of Tokyo Graduate School of Medicine
- 1996 - 2002 The University of Tokyo Faculty of Medicine
Professional career (2)：
- PhD (The University of Tokyo)
- MD (The University of Tokyo)
Work history (8)：
- 2022/11 - 現在 Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences Professor
- 2020/04 - 2022/10 The University of Tokyo Department of Neurology Associate Professor/Senior Lecturer
- 2012/04 - 2020/03 The University of Tokyo Hospital Department of Neurology Assistant Professor
- 2010/04 - 2012/03 Japan Society for the Promotion of Science Research Fellowships for Young Scientists
- 2006/04 - 2007/03 International Medical Center of Japan Department of Neurology resident
- 2004/06 - 2006/03 The University of Tokyo Hospital Department of Neurology resident
- 2003/06 - 2004/05 Kanto Chuo Hospital Internal Medicine resident
- 2002/06 - 2003/05 The University of Tokyo Hospital Internal Medicine resident
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Committee career (10)：
- 2023/11 - 現在 Japanese Society of Neurological Therapeutics Councilor
- 2023/04 - 現在 The Japanese Society of Internal Medicine Councilor
- 2021/05 - 現在 日本神経学会 代議員
- 2019/11 - 現在 日本人類遺伝学会 評議員
- - 現在 日本人類遺伝学会 臨床遺伝専門医
- - 現在 日本神経学会 専門医、指導医
- - 現在 日本内科学会 総合内科専門医
- Human Genome Variation Associate Editor
- 日本人類遺伝学会 Editorial board of Journal of Human Genetics
- 日本神経学会 臨床神経学 編集委員・幹事
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Awards (4)：
- 2021/05 - 日本神経学会 日本神経学会賞 神経筋疾患における新規リピート伸長病の発見
- 2018/10 - The Japan Epilepsy Society English Presentation Award Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy
- 2018/10 - The Japan Society of Human Genetics Award Genetic study on neurological diseases
- 2011/10 - The Japan Society of Human Genetics Travel Award Massively parallel sequence analysis reveals the causative gene of posterior column ataxia with retinitis pigmentosa
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