ISHIURA Hiroyuki 石浦浩之

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Ishiura Hiroyuki 石浦浩之

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Researcher Number	40632849
Other IDs
Affiliation (Current)	2025: 岡山大学, 医歯薬学域, 教授
Affiliation (based on the past Project Information) *help	2022 – 2024: 岡山大学, 医歯薬学域, 教授 2022: 東京大学, 医学部附属病院, 届出研究員 2020 – 2021: 東京大学, 医学部附属病院, 講師 2015 – 2019: 東京大学, 医学部附属病院, 助教 2012 – 2013: 東京大学, 医学部附属病院, 助教
Review Section/Research Field	Principal Investigator Neurology / Basic Section 52020:Neurology-related / Medium-sized Section 52:General internal medicine and related fields Except Principal Investigator Basic Section 48040:Medical biochemistry-related / Neurology / Basic Section 52020:Neurology-related
Keywords	Principal Investigator リピート伸長病 / リピート伸長変異 / 全ゲノム配列解析 / 良性成人型家族性ミオクローヌスてんかん / ロングリードシーケンサー / ロングリードシーケンス / 細胞モデル / 神経核内封入体病 / ロングリード解析 / RNA分解 … More / 次世代ゲノム解析 / 遺伝性神経疾患 / ロングリード / ハプロタイプ解析 / 神経変性疾患 / 次世代シーケンサー / エクソーム解析 / 遺伝性痙性対麻痺 … More Except Principal Investigator 炎症性筋疾患 / アルツハイマー病 / 封入体筋炎 / 筋炎 / 発現解析 / ロングリードシーケンス / 神経変性疾患 / ロングリードシーケンスア / 伸長リピート配列 / exome解析 / 関連解析 / rare variant / リスク遺伝子 / 低頻度バリアント / rare variants / Alzheimer disease / association study / 重症筋無力症 / irAE / RNA-シークエンス解析 / PD-L1 / PD-1 / 免疫チェックポイント / 多発筋炎 / マクロファージ / 免疫チェックポイント分子 / 縁どり空砲変性 / 縁どり空胞変性 / レーザーマイクロダイセクション / 発現プロファイリング / RNA-seq / 縁取り空胞変性 / 病態機序 / RNA発現解析 / 皮膚筋炎 / 次世代シーケンサー / 生検筋 / 筋炎自己抗体 Less

Research on neurodegenerative disordersPrincipal Investigator
- Principal Investigator
  
  石浦浩之
- Project Period (FY)
  2023 – 2026
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 52020:Neurology-related
- Research Institution
  Okayama University
comprehensive search for expanded repeats in neurodegenerative diseaess
- Principal Investigator
  
  辻省次
- Project Period (FY)
  2022 – 2024
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 48040:Medical biochemistry-related
- Research Institution
  International University of Health and Welfare
Revealing pathogenesis of noncoding repeat expansion diseases using long-read sequencingPrincipal Investigator
- Principal Investigator
  
  Ishiura Hiroyuki
- Project Period (FY)
  2020 – 2022
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 52020:Neurology-related
- Research Institution
  Okayama University
  The University of Tokyo
Role of immune checkpoint molecules and macrophages in inflammatory myopathies
- Principal Investigator
  
  SHIMIZU Jun
- Project Period (FY)
  2019 – 2021
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52020:Neurology-related
- Research Institution
  Tokyo University of Technology
Exploring rare variants associated with Alzheimer disease
- Principal Investigator
  
  Tsuji Shoji
- Project Period (FY)
  2019 – 2021
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 48040:Medical biochemistry-related
- Research Institution
  International University of Health and Welfare
Toward pathogenesis of noncoding repeat expansion disease focusing on RNA toxicityPrincipal Investigator
- Principal Investigator
  
  Ishiura Hiroyuki
- Project Period (FY)
  2018 – 2019
- Research Category
  
  Grant-in-Aid for Challenging Research (Exploratory)
- Review Section
  
  Medium-sized Section 52:General internal medicine and related fields
- Research Institution
  The University of Tokyo
Comprehensive whole genome sequence analysis using a long read sequencer for delineating molecular mechanism of neurological diseasesPrincipal Investigator
- Principal Investigator
  
  Ishiura Hiroyuki
- Project Period (FY)
  2017 – 2019
- Research Category
  
  Grant-in-Aid for Young Scientists (A)
- Research Field
  
  Neurology
- Research Institution
  The University of Tokyo
Gene expression profiling of inflammatory myopathy in correlation with autoantibodies
- Principal Investigator
  
  Shimizu Jun
- Project Period (FY)
  2015 – 2018
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Neurology
- Research Institution
  The University of Tokyo
Comprehensive whole genome sequence analysis using a long read sequencer for delineating molecular mechanism of neurological diseasesPrincipal Investigator
- Principal Investigator
  
  Ishiura Hiroyuki
- Project Period (FY)
  2015 – 2016
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Neurology
- Research Institution
  The University of Tokyo
Expression profiling of inclusion body myositis by massive parallel sequencing
- Principal Investigator
  
  Goto Jun
- Project Period (FY)
  2014 – 2016
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Neurology
- Research Institution
  International University of Health and Welfare
  The University of Tokyo
Identification of causative gene for autosomal recessive hereditary spastic paraplegiaPrincipal Investigator
- Principal Investigator
  
  ISHIURA Hiroyuki
- Project Period (FY)
  2012 – 2013
- Research Category
  
  Grant-in-Aid for Research Activity Start-up
- Research Field
  
  Neurology
- Research Institution
  The University of Tokyo

All 2024 2023 2022 2021 2020 2019 2018 2017 2016 2015 2014 2013 Other

All Journal Article Presentation Patent Other

[Journal Article] Late-onset Myoclonic Seizure in a 78-year-old Woman with Gaucher Disease2024
- Author(s)
  Yamaguchi-Takegami Nanaka、Takahashi Akiko、Mitsui Jun、Sugiyama Yusuke、Chikada Ayaka、Porto Kristine Joyce L、Takegami Naoki、Sakuishi Kaori、Ishiura Hiroyuki、Yamada Kaoru、Shimizu Jun、Tsuji Shoji、Toda Tatsushi
- Journal Title
  
  Intern. Med.
  
  Volume: 63 Issue: 6 Pages: 861-865
- DOI
  10.2169/internalmedicine.1699-23
- ISSN
  0918-2918, 1349-7235
- Year and Date
  2024-03-15
- Language
  English
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23K27514
[Journal Article] RFC1-related disorder presenting recurrent syncope2024
- Author(s)
  Tsuboyama Yoko、Takahashi Akiko、Furukawa Sawako、Almansour Asem、Hamada Masashi、Kubota Akatsuki、Shimizu Jun、Kinoshita Makoto、Fujimoto Chisato、Mitsui Jun、Matsukawa Takashi、Naruse Hiroya、Ishiura Hiroyuki、Tsuji Shoji、Toda Tatsushi
- Journal Title
  
  Journal of Neurology
  
  Volume: - Issue: 7 Pages: 4635-4638
- DOI
  10.1007/s00415-024-12231-5
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23K21476, KAKENHI-PROJECT-23K27514
[Journal Article] Intraventricular Cerliponase Alfa Treatment in a Patient with Advanced Neuronal Ceroid Lipofuscinosis Type 22024
- Author(s)
  Nakashima Saki、Hamada Masashi、Kimura Tomohiko、Tanifuji Shuichi、Takahashi Akiko、Yashita Daiki、Kakimoto Yu、Matsukawa Takashi、Ishiura Hiroyuki、Toda Tatsushi
- Journal Title
  
  Intern. Med.
  
  Volume: 63 Issue: 12 Pages: 1807-1812
- DOI
  10.2169/internalmedicine.2563-23
- ISSN
  0918-2918, 1349-7235
- Year and Date
  2024-06-15
- Language
  English
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23K27514
[Journal Article] CGG repeat expansion in LOC642361/NUTM2B-AS1 typically presents as oculopharyngodistal myopathy2024
- Author(s)
  Shi Yan、Cao Chunyan、Zeng Yiheng、Ding Yuanliang、Chen Long、Zheng Fuze、Chen Xuejiao、Zhou Fanggui、Yang Xiefeng、Li Jinjing、Xu Liuqing、Xu Guorong、Lin Minting、Ishiura Hiroyuki、Tsuji Shoji、Wang Ning、Wang Zhiqiang、Chen Wan-Jin、Yang Kang
- Journal Title
  
  Journal of Genetics and Genomics
  
  Volume: 51 Issue: 2 Pages: 184-196
- DOI
  10.1016/j.jgg.2023.12.009
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-23K27514
[Journal Article] Adrenomyeloneuropathy with Later Development of Cerebral Form Caused by a Hemizygous Splice-site Variant in ABCD12024
- Author(s)
 Takegami N, Matsukawa T, Hamada M, Tanifuji S, Tamura T, Yamaguchi-Takegami N, Ishiura H, Mitsui J, Sakuishi K, Tsuji S, Toda T.
- Journal Title
 
 Intern. Med.
 
 Volume: 63 Issue: 7 Pages: 999-1004
- DOI
 10.2169/internalmedicine.2240-23
- ISSN
 0918-2918, 1349-7235
- Year and Date
 2024-04-01
- Language
 English
- Peer Reviewed
- Data Source
 KAKENHI-PROJECT-22K07533, KAKENHI-PROJECT-23K27514
[Journal Article] Recovery after Prolonged Disturbance of Consciousness and Repeated Cerebral Perfusion Changes in Neuronal Intranuclear Inclusion Disease2024
- Author(s)
  Uchigami H, Hamada M, Maekawa H, Ishiura H, Kodama S, Shirota Y, Takahashi M, Momose T, Toda T.
- Journal Title
  
  Intern. Med.
  
  Volume: 63 Issue: 2 Pages: 333-336
- DOI
  10.2169/internalmedicine.1015-22
- ISSN
  0918-2918, 1349-7235
- Year and Date
  2024-01-15
- Language
  English
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-22KJ0819, KAKENHI-PROJECT-22H04961, KAKENHI-PROJECT-23K27514
[Journal Article] <scp>SPTLC2</scp> variants are associated with early‐onset <scp>ALS</scp> and <scp>FTD</scp> due to aberrant sphingolipid synthesis2024
- Author(s)
 Naruse H、Ishiura H、Takiyama Y、Morishita S、Tsuji S、Toda T, et al.
- Journal Title
 
 Annals of Clinical and Translational Neurology
 
 Volume: - Issue: 4 Pages: 946-957
- DOI
 10.1002/acn3.52013
- Peer Reviewed / Open Access
- Data Source
 KAKENHI-PROJECT-21K07456, KAKENHI-PROJECT-22K15724, KAKENHI-PROJECT-23K27514
[Journal Article] OPDM―原因究明の歴史2023
- Author(s)
  石浦浩之
- Journal Title
  
  Clinical Neuroscience
  
  Volume: 41 Pages: 101-102
- Data Source
  KAKENHI-PROJECT-23K27514
[Journal Article] Copper Deficiency in Wilson's Disease with a Normal Zinc Value2023
- Author(s)
  Ueda Masayuki、Katsuse Kazuto、Kakumoto Toshiyuki、Kobayashi Satoshi、Ishiura Hiroyuki、Mitsui Jun、Toda Tatsushi
- Journal Title
  
  Intern. Med.
  
  Volume: 62 Issue: 7 Pages: 1073-1076
- DOI
  10.2169/internalmedicine.9366-22
- ISSN
  0918-2918, 1349-7235
- Year and Date
  2023-04-01
- Language
  English
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22K07413, KAKENHI-PROJECT-20H03588
[Journal Article] A Japanese family with idiopathic basal ganglia calcification carrying a novel XPR1 variant2023
- Author(s)
  Orimo Kenta、Kakumoto Toshiyuki、Hara Ryo、Goto Ryoji、Ishiura Hiroyuki、Mitsui Jun、Yoshida Chiharu、Uesaka Yoshikazu、Suzuki Yuta、Morishita Shinichi、Satake Wataru、Tsuji Shoji、Toda Tatsushi
- Journal Title
  
  Journal of the Neurological Sciences
  
  Volume: 451 Pages: 120732-120732
- DOI
  10.1016/j.jns.2023.120732
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22K07413, KAKENHI-PROJECT-23K27514
[Journal Article] 神経難病の全ゲノム解析2023
- Author(s)
  辻省次、三井純、石浦浩之.
- Journal Title
  
  医学のあゆみ
  
  Volume: 285 Pages: 47-50
- Data Source
  KAKENHI-PROJECT-23K27514
[Journal Article] Insights into familial adult myoclonus epilepsy pathogenesis: How the same repeat expansion in six unrelated genes may lead to cortical excitability2023
- Author(s)
  Depienne Christel、van den Maagdenberg Arn M. J. M.、K?hnel Theresa、Ishiura Hiroyuki、Corbett Mark A.、Tsuji Shoji
- Journal Title
  
  Epilepsia
  
  Volume: - Issue: S1
- DOI
  10.1111/epi.17504
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20H03588, KAKENHI-PROJECT-23K27514
[Journal Article] リピート病の新展開2023
- Author(s)
  石浦浩之
- Journal Title
  
  脳神経疾患最新の治療 2024-2026
  
  Volume: - Pages: 27-30
- Data Source
  KAKENHI-PROJECT-23K27514
[Journal Article] Nine Hereditary Movement Disorders First Described in Asia: Their History and Evolution2023
- Author(s)
  Jagota P, Ugawa Y, Aldaajani Z, Ibrahim NM, Ishiura H, Nomura Y, Tsuji S, Diesta C, Hattori N, Onodera O, S, Bohlega, AlDin ASN, LIM S-Y, Lee J-Y, Jeon B, Pal PK, Shang H, Fujioka S, Kukkle PL, Phokaewvarangkul O, Lin C-H,
- Journal Title
  
  Journal of Movement Disorders
  
  Volume: 16 Issue: 3 Pages: 231-247
- DOI
  10.14802/jmd.23065
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19H01091, KAKENHI-PROJECT-23K27514
[Journal Article] The Myocardial Accumulation of Aggregated Desmin Protein in a Case of Desminopathy with a de novo DES p.R406W Mutation2023
- Author(s)
 Takegami N, Mitsutake A, Mano T, Shintani-Domoto Y, Unuma A, Yamaguchi-Takegami N, Ishiura H, Sakuishi K, Ando M, Yamauchi H, Ono M, Morishita S, Mitsui J, Shimizu J, Tsuji S, Toda T.
- Journal Title
 
 Intern. Med.
 
 Volume: 62 Issue: 19 Pages: 2883-2887
- DOI
 10.2169/internalmedicine.0992-22
- ISSN
 0918-2918, 1349-7235
- URL
 https://pure.teikyo.jp/en/publications/67aa222b-f930-4057-b8c8-adbc4034cad0
- Year and Date
 2023-10-01
- Language
 English
- Peer Reviewed
- Data Source
 KAKENHI-PROJECT-23K06434, KAKENHI-PROJECT-23K27514
[Journal Article] Recent advances in CGG repeat diseases and a proposal of fragile X-associated tremor/ataxia syndrome, neuronal intranuclear inclusion disease, and oculophryngodistal myopathy (FNOP) spectrum disorder.2023
- Author(s)
  Ishiura H, Tsuji S, Toda T.
- Journal Title
  
  J Hum Genet
  
  Volume: 68 Issue: 3 Pages: 169-174
- DOI
  10.1038/s10038-022-01116-y
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20H03588, KAKENHI-PROJECT-23K27514
[Journal Article] リピート病とプロテイノパチー2023
- Author(s)
  石浦浩之
- Journal Title
  
  BIO Clinica
  
  Volume: 38 Pages: 219-223
- Data Source
  KAKENHI-PROJECT-23K27514
[Journal Article] BAFME―原因究明の歴史2023
- Author(s)
  石浦浩之
- Journal Title
  
  Clinical Neuroscience
  
  Volume: 41 Pages: 65-67
- Data Source
  KAKENHI-PROJECT-23K27514
[Journal Article] Proteomic profile of nuclei containing p62-positive inclusions in a patient with neuronal intranuclear inclusion disease2023
- Author(s)
  Kurihara Masanori、Mano Tatsuo、Eto Fumihiro、Yao Ikuko、Sato Kenichiro、Ohtomo Gaku、Bannai Taro、Shibata Shota、Ishiura Hiroyuki、Ikemura Masako、Matsubara Tomoyasu、Morishima Maho、Saito Yuko、Murayama Shigeo、Toda Tatsushi、Setou Mitsutoshi、Iwata Atsushi
- Journal Title
  
  Neurobiology of Disease
  
  Volume: 177 Pages: 105989-105989
- DOI
  10.1016/j.nbd.2023.105989
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-22K07512, KAKENHI-PROJECT-22K15740, KAKENHI-PROJECT-20H03588, KAKENHI-PROJECT-21K20891, KAKENHI-PROJECT-23K24055, KAKENHI-PROJECT-23K18267, KAKENHI-PROJECT-22K07538, KAKENHI-PROJECT-22H04923, KAKENHI-PROJECT-20H03587
[Journal Article] 新しいリピート伸長病とロングリードシーケンシング2023
- Author(s)
  石浦浩之
- Journal Title
  
  Dementia Japan
  
  Volume: 37 Pages: 82-86
- Data Source
  KAKENHI-PROJECT-23K27514
[Journal Article] Favorable outcome of hematopoietic stem cell transplantation in late-onset Krabbe disease2023
- Author(s)
  Mitsutake Akihiko、Matsukawa Takashi、Iwata Atsushi、Ishiura Hiroyuki、Mitsui Jun、Mori Harushi、Toya Takashi、Honda Akira、Kurokawa Mineo、Sakai Norio、Tsuji Shoji、Toda Tatsushi
- Journal Title
  
  Brain and Development
  
  Volume: 45 Issue: 7 Pages: 408-412
- DOI
  10.1016/j.braindev.2023.04.001
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23K27514
[Journal Article] ノンコーディングリピート伸長病の発見とリピートモチーフ・表現型関連2023
- Author(s)
  石浦浩之
- Journal Title
  
  岡山医学会雑誌
  
  Volume: 135 Pages: 72-77
- Data Source
  KAKENHI-PROJECT-23K27514
[Journal Article] 神経筋疾患の遺伝子診断・遺伝子治療2023
- Author(s)
  石浦浩之、戸田達史
- Journal Title
  
  最新ガイドラインに基づく神経疾患　治療指針 2023-’24
  
  Volume: - Pages: 563-567
- Data Source
  KAKENHI-PROJECT-23K27514
[Journal Article] Clinical features of a family with late‐onset distal hereditary motor neuropathy harboring p.Pro39Leu variant of HSPB12023
- Author(s)
  Naruse Hiroya、Okubo So、Sudo Atsushi、Mitsui Jun、Mikata Takashi、Ishiura Hiroyuki、Morishita Shinichi、Tsuji Shoji、Toda Tatsushi
- Journal Title
  
  Journal of the Peripheral Nervous System
  
  Volume: 28 Issue: 3 Pages: 518-521
- DOI
  10.1111/jns.12567
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22K15724, KAKENHI-PROJECT-23K27514
[Journal Article] Asymptomatic myocardial infarction in a patient with myotonic dystrophy type 12022
- Author(s)
  Seki Yuka、Yamada Takanobu、Kiyosue Arihiro、Kimura Koichi、Uehara Masae、Hatano Masaru、Sasako Takayoshi、Shirota Yuichiro、Sudo Atsushi、Ishiura Hiroyuki、Toda Tatsushi、Yamauchi Toshimasa、Komuro Issei
- Journal Title
  
  Journal of Cardiology Cases
  
  Volume: 26 Issue: 4 Pages: 248-251
- DOI
  10.1016/j.jccase.2022.05.004
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H03588
[Journal Article] Recent advances in benign adult familial myoclonus epilepsy2022
- Author(s)
  Matsukawa Miho Kawabe、Ishiura Hiroyuki、Tsuji Shoji、Toda Tatsushi
- Journal Title
  
  Neurology and Clinical Neuroscience
  
  Volume: 00 Issue: 1 Pages: 1-8
- DOI
  10.1111/ncn3.12685
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K16591, KAKENHI-PROJECT-23K27514
[Journal Article] DMD exon 2 duplication due to a complex genomic rearrangement is associated with a somatic mosaicism2022
- Author(s)
  Akatsuki Kubota, Hiroyuki Ishiura, Kristine Joyce Linay Porto, Masaki Tanaka, Jun Mitsui, Atsushi Unuma, Hisataka Maki, Issei Komuro, Shoji Tsuji, Jun Shimizu, Tatsushi Toda
- Journal Title
  
  Neuromuscular Disorders
  
  Volume: 32(3) Issue: 3 Pages: 263-269
- DOI
  10.1016/j.nmd.2021.12.004
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K15440, KAKENHI-PROJECT-20H03588, KAKENHI-PROJECT-20H00526
[Journal Article] Muscle Transcriptomics Shows Overexpression of Cadherin 1 in Inclusion Body Myositis2022
- Author(s)
  Chiseko Ikenaga, Hidetoshi Date, Motoi Kanagawa, Jun Mitsui, Hiroyuki Ishiura, Jun Yoshimura, Iago Pinal-Fernandez, Andrew L Mammen, Thomas E Lloyd , Shoji Tsuji, Jun Shimizu, Tatsushi Toda, Jun Goto
- Journal Title
  
  Ann Neurol.
  
  Volume: 91 Issue: 3 Pages: 317-328
- DOI
  10.1002/ana.26304
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K07956, KAKENHI-PROJECT-16H06279, KAKENHI-PROJECT-20H00526
[Journal Article] Isolated Paravermal Hyperintensities in Neuronal Intranuclear Inclusion Disease2022
- Author(s)
  Tokimura Ryo、Hashimoto Maeda Meiko、Mitsutake Akihiko、Sakai Souichi、Suzuki Fumio、Sugasawa Keiko、Fujimoto Chisato、Ishiura Hiroyuki、Toda Tatsushi
- Journal Title
  
  Neurology
  
  Volume: 98 Issue: 22 Pages: 938-939
- DOI
  10.1212/wnl.0000000000200590
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H03588, KAKENHI-PROJECT-18K07542, KAKENHI-PROJECT-20J11785, KAKENHI-PROJECT-23K21476
[Journal Article] CGGリピート病(神経核内封入体病、白質脳症を伴う眼咽頭型ミオパチー、眼咽頭遠位型ミオパチー)2021
- Author(s)
  石浦浩之、柴田頌太
- Journal Title
  
  Clinical Neuroscience
  
  Volume: 39 Pages: 370-371
- Data Source
  KAKENHI-PROJECT-20H03588
[Journal Article] A Role of Aging in the Progression of Cortical Excitability in Benign Adult Familial Myoclonus Epilepsy type 1 Patients2021
- Author(s)
  Neshige Shuichiro、Hitomi Takefumi、Tojima Maya、Oi Kazuki、Kobayashi Katsuya、Matsuhashi Masao、Shimotake Akihiro、Matsumoto Riki、Kanda Masutaro、Maruyama Hirofumi、Ishiura Hiroyuki、Tsuji Shoji、Takahashi Ryosuke、Ikeda Akio
- Journal Title
  
  Movement Disorders
  
  Volume: 36 Issue: 10 Pages: 2446-2448
- DOI
  10.1002/mds.28718
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H03588, KAKENHI-PROJECT-20K07902, KAKENHI-PROJECT-20K21573
[Journal Article] CGGリピート病(神経核内封入体病、白質脳症を伴う眼咽頭型ミオパチー、眼咽頭遠位型ミオパチー).2021
- Author(s)
  石浦浩之, 柴田頌太.
- Journal Title
  
  Clinical Neuroscience
  
  Volume: 39 Pages: 370-371
- Data Source
  KAKENHI-PROJECT-20H03588
[Journal Article] CGGリピートと筋疾患2021
- Author(s)
  石浦浩之
- Journal Title
  
  生体の科学
  
  Volume: 72 Pages: 560-564
- Data Source
  KAKENHI-PROJECT-20H03588
[Journal Article] Clinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes.2021
- Author(s)
  Kumutpongpanich T, Ogasawara M, Ozaki A, et al., Hamano T, Sugie K, et al.,
- Journal Title
  
  JAMA Neurol.
  
  Volume: 78(7) Issue: 7 Pages: 853-853
- DOI
  10.1001/jamaneurol.2021.1509
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K07909, KAKENHI-PROJECT-20H03588, KAKENHI-PROJECT-19K07967, KAKENHI-PROJECT-20K07890, KAKENHI-PROJECT-21K06961
[Journal Article] Frequency of FMR1 Premutation Alleles in Patients with Undiagnosed Cerebellar Ataxia and Multiple System Atrophy in the Japanese Population2021
- Author(s)
  Almansour Asem、Ishiura Hiroyuki、Mitsui Jun、Matsukawa Takashi、Matsukawa Miho Kawabe、Shimizu Hideaki、Sugiyama Atsuhiko、Toda Tatsushi、Tsuji Shoji
- Journal Title
  
  The Cerebellum
  
  Volume: NA Issue: 6 Pages: 954-962
- DOI
  10.1007/s12311-021-01329-5
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18H02739, KAKENHI-PROJECT-20H03588
[Journal Article] An immigrant family with Kii amyotrophic lateral sclerosis/parkinsonism-dementia complex2021
- Author(s)
  Kokubo Y, Morimoto S, Sasaki R, Hasegawa M, Ishiura H, Tsuji S, Yoshida M, Yamazoe N, Miyazaki M, Kuzuhara S.
- Journal Title
  
  Neurol Sci.
  
  Volume: 43(2) Issue: 2 Pages: 1423-1425
- DOI
  10.1007/s10072-021-05737-7
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17H01689, KAKENHI-PROJECT-20H03588, KAKENHI-PROJECT-18K07368, KAKENHI-PROJECT-18KK0239, KAKENHI-PROJECT-16H06277
[Journal Article] 良性成人型家族性ミオクローヌスてんかんの臨床的特徴2020
- Author(s)
  松川美穂、石浦浩之、辻省次
- Journal Title
  
  脳神経内科
  
  Volume: 93 Pages: 286-290
- Data Source
  KAKENHI-PROJECT-20H03588
[Journal Article] Advances in repeat expansion diseases and a new concept of repeat motif?phenotype correlation2020
- Author(s)
  Ishiura Hiroyuki、Tsuji Shoji
- Journal Title
  
  Current Opinion in Genetics & Development
  
  Volume: 65 Pages: 176-185
- DOI
  10.1016/j.gde.2020.05.029
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20H03588
[Journal Article] リピート伸長とRAN翻訳関連疾患2020
- Author(s)
  石浦浩之
- Journal Title
  
  医学のあゆみ
  
  Volume: 273 Pages: 79-83
- Data Source
  KAKENHI-PROJECT-20H03588
[Journal Article] Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients with Movement Disorders2020
- Author(s)
  Yau Wai Yan、Vandrovcova Jana、Sullivan Roisin、Chen Zhongbo、Zecchinelli Anna、Cilia Roberto、Duga Stefano、Murray Malgorzata、Carmona Susana、Chelban Viorica、Ishiura Hiroyuki、Tsuji Shoji、Jaunmuktane Zane、Turner Chris、Wood Nicholas W.、Houlden Henry、Genomics England Research Consortium
- Journal Title
  
  Movement Disorders
  
  Volume: 36 Issue: 1 Pages: 251-255
- DOI
  10.1002/mds.28302
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20H03588
[Journal Article] ロングリードシークエンスによるリピート病概念の拡大2020
- Author(s)
  石浦浩之
- Journal Title
  
  実験医学
  
  Volume: 38 Pages: 2197-2202
- Data Source
  KAKENHI-PROJECT-20H03588
[Journal Article] Adult-onset Neuronal Intranuclear Inclusion Disease Mimicking Fragile X-associated Tremor-Ataxia Syndrome in Ethnic Chinese Patients2020
- Author(s)
  Lim SY, Ishiura H, Ramli N, Shibata S, Almansour MA, Tan AH, Houlden H, Lang AE, Tsuji S.
- Journal Title
  
  Parkinsonism Relat Disord.
  
  Volume: 74 Pages: 25-27
- DOI
  10.1016/j.parkreldis.2020.03.025
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H05085, KAKENHI-PROJECT-20H03588
[Journal Article] 良性成人型家族性ミオクローヌスてんかんの分子遺伝学2020
- Author(s)
  石浦浩之
- Journal Title
  
  脳神経内科
  
  Volume: 93 Pages: 310-315
- Data Source
  KAKENHI-PROJECT-20H03588
[Journal Article] Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease2019
- Author(s)
  Ishiura Hiroyuki、Shibata Shota、Yoshimura Jun、Suzuki YutaMano Tatsuo、Iwata Atsushi、Toda Tatsushi、Morishita Shinichi、Tsuji Shoji、et al
- Journal Title
  
  Nature Genetics
  
  Volume: 51 Issue: 8 Pages: 1222-1232
- DOI
  10.1038/s41588-019-0458-z
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K17027, KAKENHI-PROJECT-17H05085, KAKENHI-PROJECT-16H06279, KAKENHI-PROJECT-19H00597
[Journal Article] A Homozygous LAMA2 Mutation of c.818G>A Caused Partial Merosin Deficiency in a Japanese patient2018
- Author(s)
  Kubota A, Ishiura H, Mitsui J, Sakuishi K, Iwata A, Yamamoto T, Nishino I, Tsuji S, Shimizu J
- Journal Title
  
  Intern Med
  
  Volume: 15;57(6) Pages: 877-882
- NAID
  130006507413
- Data Source
  KAKENHI-PROJECT-15K09347
[Journal Article] An Autopsy Case of Familial Neuronal Intranuclear Inclusion Disease with Dementia and Neuropathy2018
- Author(s)
  Yamaguchi Nanaka、Mano Tatsuo、Ohtomo Ryo、Ishiura Hiroyuki、Almansour M. Asem、Mori Harushi、Kanda Junko、Shirota Yuichiro、Taira Kenichiro、Morikawa Teppei、Ikemura Masako、Yanagi Yasuo、Murayama Shigeo、Shimizu Jun、Sakurai Yasuhisa、Tsuji Shoji、Iwata Atsushi
- Journal Title
  
  Intern. Med.
  
  Volume: 57 Issue: 23 Pages: 3459-3462
- DOI
  10.2169/internalmedicine.1141-18
- NAID
  130007539687
- ISSN
  0918-2918, 1349-7235
- Year and Date
  2018-12-01
- Language
  English
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K16113, KAKENHI-PROJECT-17H05085
[Journal Article] Intronic pentanucleotide TTTCA repeat insertion in the SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 12018
- Author(s)
  Cen Zhidong、Jiang Zhengwen、Chen You、Zheng Xiaosheng、Xie Fei、Yang Xiaodong、Lu Xingjiao、Ouyang Zhiyuan、Wu Hongwei、Chen Si、Yin Houmin、Qiu Xia、Wang Shuang、Ding Meiping、Tang Yelei、Yu Feng、Li Caihua、Wang Tao、Ishiura Hiroyuki、Tsuji Shoji、Jiao Chuan、Liu Chunyu、Xiao Jianfeng、Luo Wei
- Journal Title
  
  Brain
  
  Volume: 141 Issue: 8 Pages: 2280-2288
- DOI
  10.1093/brain/awy160
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H05085
[Journal Article] Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy2018
- Author(s)
  Ishiura Hiroyuki、Doi Koichiro、Mitsui Jun、Yoshimura Jun、Matsukawa Miho Kawabe、Takahashi Yuji、Date Hidetoshi、Matsukawa Takashi、Shimizu Jun、Koh Kishin、Takiyama Yoshihisa、Goto Jun、Morishita Shinichi、Tsuji Shoji
- Journal Title
  
  Nature Genetics
  
  Volume: 50 Issue: 4 Pages: 581-590
- DOI
  10.1038/s41588-018-0067-2
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K17772, KAKENHI-INTERNATIONAL-15K21731, KAKENHI-PROJECT-15H06161, KAKENHI-ORGANIZER-15H05871, KAKENHI-PLANNED-15H05874, KAKENHI-PROJECT-17H05085, KAKENHI-PROJECT-16K09670, KAKENHI-PROJECT-16K14571, KAKENHI-PROJECT-16H06279, KAKENHI-PROJECT-17K07255, KAKENHI-PROJECT-17K09798, KAKENHI-PROJECT-17K10888, KAKENHI-PROJECT-18K07542, KAKENHI-PROJECT-16K09681
[Journal Article] Partial duplication of DHH causes minifascicular neuropathy2017
- Author(s)
  Sato Naoko Saito、Maekawa Risa、Ishiura Hiroyuki、Mitsui Jun、Naruse Hiroya、Tokushige Shin-ichi、Sugie Kazuma、Tate Genshu、Shimizu Jun、Goto Jun、Tsuji Shoji、Shiio Yasushi
- Journal Title
  
  Ann Clin Transl Neurol
  
  Volume: 4 Issue: 6 Pages: 415-421
- DOI
  10.1002/acn3.417
- Data Source
  KAKENHI-PROJECT-15K09347
[Journal Article] Clinicopathologic features of myositis patients with CD8-MHC-1 complex pathology2017
- Author(s)
  Ikenaga C, Kubota A, Kadoya M, Taira K, Uchio N, Hida A, Maeda MH, Nagashima Y, Ishiura H, Kaida K, Goto J, Tsuji S, Shimizu J
- Journal Title
  
  Neurology
  
  Volume: 5;89(10) Issue: 10 Pages: 1060-1068
- DOI
  10.1212/wnl.0000000000004333
- Data Source
  KAKENHI-PROJECT-15K09347
[Journal Article] ゲノムビッグデータの解析2016
- Author(s)
  石浦浩之
- Journal Title
  
  神経内科
  
  Volume: 84 Pages: 585-589
- Data Source
  KAKENHI-PROJECT-15K20941
[Journal Article] 神経遺伝医学研究の歴史的背景と今後の課題2016
- Author(s)
  辻省次、三井純、石浦浩之
- Journal Title
  
  遺伝子医学MOOK
  
  Volume: -
- Data Source
  KAKENHI-PROJECT-15K20941
[Journal Article] SCD・MSA病型の新研究　遺伝型の最新研究進歩2016
- Author(s)
  石浦浩之
- Journal Title
  
  難病と在宅ケア
  
  Volume: 22 Pages: 23-26
- Data Source
  KAKENHI-PROJECT-15K20941
[Journal Article] 次世代シーケンサー、次々世代シーケンサーとクリニカルシーケンシング2016
- Author(s)
  石浦浩之
- Journal Title
  
  遺伝子医学MOOK
  
  Volume: -
- Data Source
  KAKENHI-PROJECT-15K20941
[Journal Article] Epidemiology and molecular mechanism of frontotemporal lobar degeneration/amyotrophic lateral sclerosis with repeat expansion mutation in C9orf72.2015
- Author(s)
  Ishiura H, Tsuji S.
- Journal Title
  
  J Neurogenet
  
  Volume: 29 Issue: 2-3 Pages: 85-94
- DOI
  10.3109/01677063.2015.1085980
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-15K20941
[Journal Article] Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation2014
- Author(s)
  Shimazaki H, Ishiura H, et al.
- Journal Title
  
  J Neurol Neurosurg Psychiatry
  
  Volume: (epub ahead of print)
- Data Source
  KAKENHI-PROJECT-24890044
[Journal Article] Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses2014
- Author(s)
  Ishiura H, Takahashi Y, Hayashi T, Saito K, Furuya H, Watanabe M, Murata M, Suzuki M, Sugiura A, Sawai S, Shibuya K, Ueda N, Ichikawa Y, Kanazawa I, Goto J, Tsuji S
- Journal Title
  
  J Hum Genet
  
  Volume: 59 Pages: 163-72
- NAID
  40020021308
- Data Source
  KAKENHI-PROJECT-24890044
[Journal Article] Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf122013
- Author(s)
  Landoure G, Ishiura H, et al.
- Journal Title
  
  Hum Mutat
  
  Volume: 34 Pages: 1357-60
- Data Source
  KAKENHI-PROJECT-24890044
[Journal Article] Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 12013
- Author(s)
  Ichikawa Y, Ishiura H, et al.
- Journal Title
  
  J Neurol Sci
  
  Volume: 331 Pages: 158-60
- Data Source
  KAKENHI-PROJECT-24890044
[Patent] Detection of noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease2019
- Inventor(s)
  Ishiura H, Tsuji S
- Industrial Property Rights Holder
  Ishiura H, Tsuji S
- Industrial Property Rights Type
  特許
- Filing Date
  2019
- Overseas
- Data Source
  KAKENHI-PROJECT-17H05085
[Patent] DIAGNOSTIC METHOD OF BENIGN ADULT TYPE FAMILIAL MYOCLONUS EPILEPSY2018
- Inventor(s)
  石浦浩之、辻省次
- Industrial Property Rights Holder
  石浦浩之、辻省次
- Industrial Property Rights Type
  特許
- Filing Date
  2018
- Overseas
- Data Source
  KAKENHI-PROJECT-17H05085
[Patent] DIAGNOSTIC METHOD OF BENIGN ADULT TYPE FAMILIAL MYOCLONUS EPILEPSY2018
- Inventor(s)
  石浦浩之、辻省次
- Industrial Property Rights Holder
  石浦浩之、辻省次
- Industrial Property Rights Type
  特許
- Filing Date
  2018
- Data Source
  KAKENHI-PROJECT-17H05085
[Presentation] Recent advances in repeat expansion disorders.2023
- Author(s)
  Ishiura H.
- Organizer
  The 15th Biennial Convention of the ASEAN Neurological Association 2023
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-23K27514
[Presentation] 遺伝性神経筋疾患の最近の進歩2023
- Author(s)
  石浦浩之
- Organizer
  第65回日本小児神経学会学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-23K27514
[Presentation] Variants in SPTAN1 in patients with hereditary spastic paraplegia2023
- Author(s)
  Ishiura H, Mano T, Sudo A, Koh K, Takiyama Y, JASPAC, Matsukawa T, Mitsui J, Nakayama T, Tsuji S, Toda T
- Organizer
  第64回日本神経学会学術大会
- Data Source
  KAKENHI-PROJECT-23K27514
[Presentation] 遺伝性神経筋疾患の診療の仕方と病態機序2023
- Author(s)
  石浦浩之
- Organizer
  日本神経学会中四国地方会第31回生涯教育講演会
- Invited
- Data Source
  KAKENHI-PROJECT-23K27514
[Presentation] FLVCR1遺伝子の新規複合ヘテロ接合性変異によるposterior column ataxia with retinitis pigmentosaの一例2023
- Author(s)
  中野由美子、出口健太郎、福井裕介、松岡千加、河野智仁、平佑貴、小坂田陽介、佐々木諒、野村恵美、柚木太淳、武本麻美、森原隆太、山下徹、石浦浩之
- Organizer
  第114回日本神経学会中国四国地方会
- Data Source
  KAKENHI-PROJECT-23K27514
[Presentation] Recent advances in repeat expansion diseases and the future potential of gene therapy.2023
- Author(s)
  Ishiura H.
- Organizer
  日本人類遺伝学会第68回大会・Human Genetics Asia.
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-23K27514
[Presentation] A single-center genetic analysis of oculopharyngeal myopathy2022
- Author(s)
  Takahiro Shimizu, Hiroyuki Ishiura, Manato Hara, Shota Shibata, Atsushi Unuma, Akatsuki Kubota, Kaori Sakuishi, Kiyoharu Inoue, Jun Goto, Yuji Takahashi, Yuichiro Shirota, Masashi Hamada, Jun Shimizu, Shoji Tsuji, Tatsushi Toda
- Organizer
  American Society of Human Genetics 2022
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20H03588
[Presentation] Landscape of HSPs in Japan and Japan Spastic Paraplegia Research Consortium (JASPAC)2022
- Author(s)
  Ishiura H
- Organizer
  TreatHSP/TWS Symposium 2022
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20H03588
[Presentation] 眼咽頭遠位型ミオパチー 1型 7例の臨床病理学的検討2022
- Author(s)
  清水崇紘，石浦浩之，原愛徒，柴田頌太，鵜沼敦，久保田暁，作石かおり，井上聖啓，後藤順，高橋祐二，代田悠一郎，濱田雅，清水潤，辻省次，戸田達史
- Organizer
  日本筋学会
- Data Source
  KAKENHI-PROJECT-20H03588
[Presentation] Expanded CGG repeats in oculopharyngodistal myopathy and related disorders2022
- Author(s)
  Ishiura H
- Organizer
  12th Japanese-French Workshop “New insights in personalized medicine for neuromuscular diseases: From Basic to Applied Myology”
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20H03588
[Presentation] 神経筋疾患におけるロングリードシーケンシングの役割2022
- Author(s)
  石浦浩之
- Organizer
  日本人類遺伝学会
- Invited
- Data Source
  KAKENHI-PROJECT-20H03588
[Presentation] ハンチントン病の病因遺伝子2022
- Author(s)
  石浦浩之
- Organizer
  日本神経学会学術大会
- Invited
- Data Source
  KAKENHI-PROJECT-20H03588
[Presentation] 神経筋疾患における新規リピート伸長病の発見2022
- Author(s)
  石浦浩之
- Organizer
  日本神経学会学術大会
- Invited
- Data Source
  KAKENHI-PROJECT-20H03588
[Presentation] 新しいリピート伸長病とロングリードシーケンシング2021
- Author(s)
  石浦浩之
- Organizer
  第40回日本認知症学会学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-20H03588
[Presentation] リピート伸長変異が拓く新たな神経学2021
- Author(s)
  石浦浩之
- Organizer
  第62回日本神経学会学術大会
- Invited
- Data Source
  KAKENHI-PROJECT-20H03588
[Presentation] Repeat motif-phenotype correlation in non-coding repeat expansion disorders.2021
- Author(s)
  Ishiura H, Tsuji S.
- Organizer
  East Asia Union of Human Genetics
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20H03588
[Presentation] BAFMEの遺伝子解析2021
- Author(s)
  石浦浩之
- Organizer
  第51回日本臨床神経生理学会学術大会
- Invited
- Data Source
  KAKENHI-PROJECT-20H03588
[Presentation] ノンコーディングリピート病研究の進歩2021
- Author(s)
  石浦浩之
- Organizer
  日本人類遺伝学会第66回大会
- Invited
- Data Source
  KAKENHI-PROJECT-20H03588
[Presentation] Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease and oculopharyngodistal myopathy.2021
- Author(s)
  Ishiura H
- Organizer
  The 19th Asian-Oceanian Myology Center Meeting
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20H03588
[Presentation] Genotype-phenotype correlation study of Neuronal Intranuclear Inclusion Disease2020
- Author(s)
  Shota Shibata, Hiroyuki Ishiura, Shoji Tsuji, Tatsushi Toda
- Organizer
  Annual meeting of American Society of Human Genetics
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20H03588
[Presentation] 続々同定される非コード領域リピート伸長病2020
- Author(s)
  石浦浩之
- Organizer
  第61回日本神経学会学術大会
- Invited
- Data Source
  KAKENHI-PROJECT-20H03588
[Presentation] BAFMEにおけるリピート伸長変異の同定2020
- Author(s)
  石浦浩之
- Organizer
  第61回日本神経学会学術大会
- Invited
- Data Source
  KAKENHI-PROJECT-20H03588
[Presentation] Noncoding repeat expansions in epilepsy2019
- Author(s)
  Ishiura H
- Organizer
  13th Biennial Convention of the ASEAN Neurological Association
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K19506
[Presentation] Molecular pathogenesis of benign adult familial myoclonic epilepsy (BAFME)2019
- Author(s)
  Ishiura H
- Organizer
  日本神経学会学術大会
- Invited
- Data Source
  KAKENHI-PROJECT-17H05085
[Presentation] Molecular pathogenesis of benign adult familial myoclonic epilepsy （BAFME）2019
- Author(s)
  Ishiura H
- Organizer
  第60回日本神経学会学術大会
- Invited
- Data Source
  KAKENHI-PROJECT-18K19506
[Presentation] Noncoding repeat expansions in epilepsy2019
- Author(s)
  Ishiura H
- Organizer
  13th Biennial Convention of the ASEAN Neurological Association
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H05085
[Presentation] Noncoding CGG repeat expansions as common causative mutations for three diseases, neuronal intranuclear inclusion disease, oculophryngodistal myopathy, and an overlapping disease2019
- Author(s)
  Ishiura H, et al.
- Organizer
  American Society of Human Genetics 2019
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H05085
[Presentation] Noncoding CGG repeat expansions as common causative mutations for three diseases, neuronal intranuclear inclusion disease, oculophryngodistal myopathy, and an overlapping disease.2019
- Author(s)
  Ishiura H, et al.
- Organizer
  The 69th Annual Meeting of the American Society of Human Genetics
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K19506
[Presentation] 良性成人型家族性ミオクローヌスてんかんの分子遺伝学的研究2018
- Author(s)
  石浦　浩之
- Organizer
  第59回日本神経学会学術大会
- Invited
- Data Source
  KAKENHI-PROJECT-17H05085
[Presentation] Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy2018
- Author(s)
  Ishiura H, Doi K, Mitsui J, Yoshimura J, Matsukawa MK, Fujiyama A, Kakita A, Qu W, Ichikawa K, Shibata S, Mitsue A, Abe K, Koike R, Yasuda T, Sano A, Ikeda A, Goto J, Morishita S, Tsuji S.
- Organizer
  5th RNA metabolism in Neurological Disease Conference
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H05085
[Presentation] ロングリードシーケンサーを用いた遺伝性疾患の原因遺伝子の解明2018
- Author(s)
  石浦　浩之
- Organizer
  ゲノムテクノロジー第164委員会　第56回研究会「ロングリード・シーケンシングの医学応用・技術展望・情報解析」
- Invited
- Data Source
  KAKENHI-PROJECT-17H05085
[Presentation] New genetics of myoclonus epilepsy2018
- Author(s)
  Ishiura H.
- Organizer
  Joint MSN-JSN symposium
- Invited
- Data Source
  KAKENHI-PROJECT-17H05085
[Presentation] Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy2018
- Author(s)
  Ishiura H, Doi K, Mitsui J, Yoshimura J, Matsukawa MK, Fujiyama A, Kakita A, Qu W, Ichikawa K, Shibata S, Mitsue A, Abe K, Koike R, Yasuda T, Sano A, Ikeda A, Goto J, Morishita S, Tsuji S.
- Organizer
  5th RNA metabolism in Neurological Disease Conference
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K19506
[Presentation] Genetics of non-coding repeat expansion diseases.2018
- Author(s)
  Ishiura H.
- Organizer
  2018 NTU-U Tokyo Joint Conference
- Invited
- Data Source
  KAKENHI-PROJECT-17H05085
[Presentation] Genetics of spastic paraplegia: lessons from Japanese families2018
- Author(s)
  Ishiura H.
- Organizer
  Joint MSN-JSN symposium
- Invited
- Data Source
  KAKENHI-PROJECT-17H05085
[Presentation] Expansions of intronic TTTCA and TTTTA repeats in three genes cause benign adult familial myoclonic epilepsy2018
- Author(s)
  Ishiura H, Doi K, Mitsui J, Yoshimura J, Matsukawa MK, Fujiyama A, Kakita A, Qu W, Ichikawa K, Shibata S, Mitsue A, Ichikawa Y, Takahashi Y, Abe K, Koike R, Yasuda T, Sano A, Ikeda A, Goto J, Morishita S, Tsuji S.
- Organizer
  American Society of Human Genetics 2018
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H05085
[Presentation] Pentanucleotide repeat expansion mutations in benign adult familial myoclonic epilepsy2018
- Author(s)
  石浦浩之
- Organizer
  19th International Congress of Neuropathology
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K19506
[Presentation] Pentanucleotide repeat expansion mutations in benign adult familial myoclonic epilepsy2018
- Author(s)
  石浦　浩之
- Organizer
  19th International Congress of Neuropathology
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H05085
[Presentation] Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy (BAFME)2018
- Author(s)
  Ishiura H, Doi K, Mitsui J, Yoshimura J, Matsukawa MK, Qu W, Shibata S, Mitsue A, Ikeda A, Goto J, Morishita S, Tsuji S.
- Organizer
  第52回日本てんかん学会学術大会
- Data Source
  KAKENHI-PROJECT-18K19506
[Presentation] Linkage and haplotype analyses of families with benign adult familial myoclonic epilepsy (BAFME)2017
- Author(s)
  Ishiura H et al.
- Organizer
  American Society of Human Genetics 2017 Annual Meeting
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H05085
[Presentation] Linkage analysis of benign adult familial myoclonic epilepsy (BAFME) families suggests further genetic heterogeneity2017
- Author(s)
  Ishiura H et al.
- Organizer
  日本人類遺伝学会第62回大会
- Data Source
  KAKENHI-PROJECT-17H05085
[Presentation] Linkage and haplotype analyses of families with benign adult familial myoclonic epilepsy.2017
- Author(s)
  Ishiura H et al.
- Organizer
  The XXIII World Congress of Neurology
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H05085
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1. Shimizu Jun (40260492)

# of Collaborated Projects: 3 results

# of Collaborated Products: 4 results
2. Goto Jun (10211252)

# of Collaborated Projects: 2 results

# of Collaborated Products: 2 results
3. Tsuji Shoji (70150612)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
4. 池内健 (20372469)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
5. 田中真生 (30774252)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
6. 久保田暁 (30771589)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
7. 三井純 (70579862)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
8. 角元利行 (90876814)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
9. IKENAGA Chiseko

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
10. ONO Yumie

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
11. 間野達雄

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
12. 藤本千里

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
13. 宇川義一

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
14. 松川美穂

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
15. 浜野忠則

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
16. 高紀信

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
17. 成瀬紘也

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
18. 葛原茂樹

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
19. 小久保康昌

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
20. 滝山嘉久

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

ISHIURA Hiroyuki 石浦 浩之

Ishiura Hiroyuki 石浦 浩之

Research Projects

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Co-Researchers

Research on neurodegenerative disordersPrincipal Investigator

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comprehensive search for expanded repeats in neurodegenerative diseaess

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Revealing pathogenesis of noncoding repeat expansion diseases using long-read sequencingPrincipal Investigator

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Role of immune checkpoint molecules and macrophages in inflammatory myopathies

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Exploring rare variants associated with Alzheimer disease

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Toward pathogenesis of noncoding repeat expansion disease focusing on RNA toxicityPrincipal Investigator

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Comprehensive whole genome sequence analysis using a long read sequencer for delineating molecular mechanism of neurological diseasesPrincipal Investigator

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Gene expression profiling of inflammatory myopathy in correlation with autoantibodies

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Comprehensive whole genome sequence analysis using a long read sequencer for delineating molecular mechanism of neurological diseasesPrincipal Investigator

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Expression profiling of inclusion body myositis by massive parallel sequencing

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Identification of causative gene for autosomal recessive hereditary spastic paraplegiaPrincipal Investigator

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[Journal Article] Late-onset Myoclonic Seizure in a 78-year-old Woman with Gaucher Disease2024

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[Journal Article] RFC1-related disorder presenting recurrent syncope2024

ISHIURA Hiroyuki 石浦浩之

Ishiura Hiroyuki 石浦浩之

[Journal Article] Copper Deficiency in Wilson's Disease with a Normal Zinc Value2023