Matsuura Tohru 松浦徹

… Alternative Names

MATSUURA Tohru 松浦徹

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Researcher Number	90402560
Other IDs
Affiliation (Current)	2025: 自治医科大学, 医学部, 教授
Affiliation (based on the past Project Information) *help	2020 – 2023: 自治医科大学, 医学部, 教授 2012 – 2016: 自治医科大学, 医学部, 教授 2012: 岡山大学, 大学院・医歯薬学総合研究科, 准教授 2011 – 2012: 岡山大学, 医歯(薬)学総合研究科, 准教授 2008 – 2010: Nagoya University, 大学院・医歯薬学総合研究科, 准教授 … More 2008: 岡山大学, 大学院・医歯薬学総合研究所, 准教授 2007: 名古屋大学, 大学院・医学系・研究科, 准教授 2007: Nagoya University, Graduate School of Medicine, Associate Professor 2006: Nagoya University, Graduate School of Medicine, Associate Professor, 大学院医学系研究科, 助教授 2005: 名古屋大学, 大学院・医学系研究科, 助教授 Less
Review Section/Research Field	Principal Investigator Human genetics / Basic Section 51030:Pathophysiologic neuroscience-related / Neurology / Biological Sciences Except Principal Investigator Neurology / Pathological medical chemistry
Keywords	Principal Investigator RNA / リピート不安定性 / 非翻訳領域リピート病 / 体細胞モザイク / 非翻訳領域リピート伸長 / 筋強直性ジストロフィー2型 / 脊髄小脳失調症10型 / DM2 / 非翻訳リピート病 / スプライシング … More / 神経細胞死 / ゲノム不安定性 / 不安定リピート伸長 / 脆弱X関連振戦失調症候群 / ミスマッチ修復遺伝子 / 腫瘍化 / FXTAS / リピート伸長 / ロングリードシーケンス / CCTG伸長リピート / ロングリードシーケンサー / リピート伸長配列 / ロングリードシークエンサー / repeat structure / ancestral origin / CCTG repeat expansion / DNA メチル化 / 伸長リピート内シーケンス / ハプロタイプ解析 / 次世代シーケンサー / 筋強直性ジストロフィー2型 (DM2) / 脆弱X随伴振戦失調症候群 / 脊髄小脳失調症8型 / RAN translation / 脆弱X 随伴振戦/失調症候群 / DNAミスマッチ修復遺伝子発現 / 体細胞リピート不安定性 / FMR1遺伝子CGGリピート / 脆弱X随伴振戦・失調症候群 / mismatach repair遺伝子 / CGGリピート / FMR1遺伝子 / 脆弱X随伴振戦/失調症候群 / RNA結合タンパク / RNA foci / GGCCTGリピート伸長 / SCA36 / 脊髄小脳失調10型 / スプライシング異常 / AUUCUリピート / RNA病態 / 脊髄小脳失調症 / 組織特異的異常スプライシング / 解析アルゴリズム / エクソンアレイ / 優性遺伝性非翻訳リピート病 / 筋強直性ジストロフィー / 異常スプライシング / RNA代謝障害 / SCA10 / 薬剤スクリーニング / Exonアレイ / 遺伝子スプライシング異常 / 筋強直性ジストロフィー1型(DM1) / myotonic dystrophy type 1(DM1) / DM1 / 優性遺伝性非翻訳領域リピート病 / RNA gain-of-function / Sca10 KOマウス / ATXN10遺伝子 / ATTCTリピート / RNA FISH-IF / 核内AUUCU封入体 / 脊髄小脳変性症10型(SCA10) … More Except Principal Investigator repeat instability / HNPCC / 神経科学 / 遺伝子 / 先天性筋無力症候群 / neurological diseases / DNA replication / genomic instability / DNA複製 / 神経変性疾患 / NDA複製 / ゲノムインスタビリティー / mRNA splicing / congenital myasthenic syndromes / 脳神経疾患 / 脳・神経 / 蛋白質 / mRNAスプライシング / マイクロアレイ / ゲノム / タンニン酸 / スプライシング異常 Less

脆弱X関連振戦運動失調症候群の不安定リピート伸長による細胞死と腫瘍化メカニズムPrincipal Investigator
- Principal Investigator
  
  松浦徹
- Project Period (FY)
  2023 – 2025
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 51030:Pathophysiologic neuroscience-related
- Research Institution
  Jichi Medical University
Long-read sequencing across the DM2 repeat expansion reveals unique insight of repeat expansion structurePrincipal Investigator
- Principal Investigator
  
  Matsuura Tohru
- Project Period (FY)
  2020 – 2022
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 51030:Pathophysiologic neuroscience-related
- Research Institution
  Jichi Medical University
RAN translation and repeat instabilty mechanism in non-coding repeat expansion disordersPrincipal Investigator
- Principal Investigator
  
  Matsuura Tohru
- Project Period (FY)
  2014 – 2016
- Research Category
  
  Grant-in-Aid for Challenging Exploratory Research
- Research Field
  
  Human genetics
- Research Institution
  Jichi Medical University
Repeat instability and RNA-mediated disease mechanism of non-coding repeat expansion ataxiasPrincipal Investigator
- Principal Investigator
  
  Tohru Matsuura
- Project Period (FY)
  2012 – 2015
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Human genetics
- Research Institution
  Jichi Medical University
Study on neuron-specific aberrant splicings in myotonic dystrophiesPrincipal Investigator
- Principal Investigator
  
  MATSUURA Tohru
- Project Period (FY)
  2011 – 2012
- Research Category
  
  Grant-in-Aid for Challenging Exploratory Research
- Research Field
  
  Neurology
- Research Institution
  Okayama University
Non-coding repeat expansion disorders - characterization of expanded RNA repeat associated with SCA10 and DM2Principal Investigator
- Principal Investigator
  
  MATSUURA Tohru
- Project Period (FY)
  2008 – 2010
- Research Category
  
  Grant-in-Aid for Scientific Research on Innovative Areas (Research a proposed research project)
- Research Field
  
  Human genetics
- Research Institution
  Okayama University
Molecular bases and their regulations of mRNA aberrations in neuromuscular transmission defects and other muscular diseases
- Principal Investigator
  
  OHNO Kinji
- Project Period (FY)
  2007 – 2008
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Neurology
- Research Institution
  Nagoya University
Study on aberrant splicings in dominant non-coding repeat expansion disordersPrincipal Investigator
- Principal Investigator
  
  MATSUURA Tohru
- Project Period (FY)
  2007 – 2008
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Neurology
- Research Institution
  Nagoya University
脊髄小脳変性症10型の神経変性とインスタビリティー機構Principal Investigator
- Principal Investigator
  
  松浦徹
- Project Period (FY)
  2006 – 2007
- Research Category
  
  Grant-in-Aid for Scientific Research on Priority Areas
- Review Section
  
  Biological Sciences
- Research Institution
  Nagoya University
Effect of repeat instability on cancer and neurological diseases
- Principal Investigator
  
  SUZUKI Motoshi
- Project Period (FY)
  2006 – 2007
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pathological medical chemistry
- Research Institution
  Nagoya University
Molecular pathomechanisms of congenital defects of neuromuscular transmission
- Principal Investigator
  
  OHNO Kinji
- Project Period (FY)
  2005 – 2006
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Neurology
- Research Institution
  Nagoya University

All 2021 2016 2015 2014 2013 2012 2011 2010 2009 2008 2007 2006 Other

All Journal Article Presentation Patent

[Journal Article] CGG repeat RNA G-quadruplexes interact with FMRpolyG to cause neuronal dysfunction in fragile X-related tremor/ataxia syndrome2021
- Author(s)
  Asamitsu Sefan、Yabuki Yasushi、Ikenoshita Susumu、Kawakubo Kosuke、Kawasaki Moe、Usuki Shingo、Nakayama Yuji、Adachi Kaori、Kugoh Hiroyuki、Ishii Kazuhiro、Matsuura Tohru、Nanba Eiji、Sugiyama Hiroshi、Fukunaga Kohji、Shioda Norifumi
- Journal Title
  
  Science Advances
  
  Volume: 7 Issue: 3
- DOI
  10.1126/sciadv.abd9440
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K06183, KAKENHI-PROJECT-20K21400, KAKENHI-PROJECT-20K15417, KAKENHI-PUBLICLY-19H05221, KAKENHI-PROJECT-20H03393, KAKENHI-PROJECT-20J00520, KAKENHI-PROJECT-20K07740
[Journal Article] A newly identified NES sequence present in spastin regulates its subcellular localization and microtubule severing activity2021
- Author(s)
  Sakoe Kumi、Shioda Norifumi、Matsuura Tohru
- Journal Title
  
  Biochimica et Biophysica Acta (BBA) - Molecular Cell Research
  
  Volume: 1868 Issue: 1 Pages: 118862-118862
- DOI
  10.1016/j.bbamcr.2020.118862
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K21400, KAKENHI-PUBLICLY-19H05221, KAKENHI-PROJECT-20H03393, KAKENHI-PROJECT-20K07740
[Journal Article] Phenylbutazone induces expression of MBNL1 and suppresses formation of MBNL1-CUG RNA foci in a mouse model of myotonic dystrophy2016
- Author(s)
  1.Chen G, Masuda A, Konishi H, Ohkawara B, Ito M, Kinoshita M, Kiyama H, Matsuura T, Ohno K.
- Journal Title
  
  Sci Rep
  
  Volume: 6 Issue: 1 Pages: 25317-25317
- DOI
  10.1038/srep25317
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15H04840, KAKENHI-PROJECT-26670170, KAKENHI-PROJECT-15K06707, KAKENHI-PROJECT-15K06755, KAKENHI-PROJECT-16K07055
[Journal Article] Developmentally-regulated RNA-binding Protein 1 (Drb1)/RNA-binding Motif Protein 45 (RBM45), a Nuclear-cytoplasmic Trafficking Protein, Forms TAR DNA-binding Protein 43 (TDP-43)-mediated Cytoplasmic Aggregates2016
- Author(s)
  5.Mashiko T, Sakashita E, Kasashima K, Tominaga K, Kuroiwa K, NozakiY, Matsuura T, Hamamoto T, Endo H
- Journal Title
  
  J Biol Chem
  
  Volume: 291 Issue: 29 Pages: 14996-15007
- DOI
  10.1074/jbc.m115.712232
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26670170, KAKENHI-PROJECT-15K19029
[Journal Article] Inactivation of PNKP by mutant ATXN3 triggers apoptosis by activating the DNA damage response pathway in SCA3.2015
- Author(s)
  Gao R, Liu Y, Silva-Fernandes A, Fang X, Paulucci-Holthauzen A, Chatterjee A, Zhang HL, Matsuura T, Choudhary S, Ashizawa T, Koeppen AH, Maciel P, Hazra TK, Sarkar PS.
- Journal Title
  
  PLoS Genet
  
  Volume: 11 Issue: 1 Pages: e1004834-e1004834
- DOI
  10.1371/journal.pgen.1004834
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-26670170, KAKENHI-PROJECT-24390083
[Journal Article] Unique combination of hyperintense vessel sign on initial FLAIR and delayed vasoconstriction on MRA in reversible cerebral vasoconstriction syndrome: A case report.2014
- Author(s)
  Kameda T, Namekawa M, Shimazaki H, Minakata D, Matsuura T, Nakano I
- Journal Title
  
  Cephalalgia
  
  Volume: 34 Issue: 13 Pages: 1093-1096
- DOI
  10.1177/0333102414529197
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-26461297, KAKENHI-PROJECT-26670170
[Journal Article] Seven amyotrophic lateral sclerosis patients diagnosed only after development of respiratory failure.2014
- Author(s)
  Sato K, Morimoto N, Deguchi K, Ikeda Y, Matsuura T, Abe K.
- Journal Title
  
  J Clin Neurosci.
  
  Volume: Aug;21(8) Issue: 8 Pages: 1341-3
- DOI
  10.1016/j.jocn.2013.11.021
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-25293202, KAKENHI-PROJECT-26670170
[Journal Article] Clinical and genetic analysis of the first known Asian family with myotonic dystrophy type 22014
- Author(s)
  Nakayama T, Nakamura H, Oya Y, Kimura T, Imahuku I, Ohno K, Nishino I, Abe K, Matsuura T.
- Journal Title
  
  J Hum Genet
  
  Volume: 59 Issue: 3 Pages: 129-133
- DOI
  10.1038/jhg.2013.133
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-24390221, KAKENHI-PROJECT-26670170
[Journal Article] LDB3 splicing abnormalities are specific to skeletal muscles of patients with myotonic dystrophy type 1 and alter its PKC binding affinity2014
- Author(s)
  Yamashita Y, Matsuura T, Kurosaki T, Amakusa Y, Kinoshita M, Ibi T, Sahashi K, Ohno K.
- Journal Title
  
  Neurobiol Disord
  
  Volume: 69 Pages: 200-205
- DOI
  10.1016/j.nbd.2014.05.026
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-24390221, KAKENHI-PROJECT-26670170, KAKENHI-PROJECT-24390083
[Journal Article] Exome sequencing as a diagnostic tool to identify a causal mutation in genetically highly heterogeneous limb-girdle muscular dystrophy.2013
- Author(s)
  Matsuura T, Kurosaki T, Omote Y, Minami N, Hayashi YK, Nishino I, Abe K.
- Journal Title
  
  J Hum Genet
  
  Volume: 58 Issue: 8 Pages: 564-565
- DOI
  10.1038/jhg.2013.33
- NAID
  10031195288
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24390083, KAKENHI-PROJECT-24390227, KAKENHI-PROJECT-24659437
[Journal Article] Myotonic dystrophy CTG expansion affects synaptic vesicle proteins, neurotransmission and mouse behaviour.2013
- Author(s)
  Hernandez-Hernandez O, Guiraud-Dogan C, Sicot G, Huguet A, Luilier S, Steidl E, Saenger S, Marciniak E, Obriot H, Chevarin C, Nicole A, Revillod L, Charizanis K, Matsuura T, et al.
- Journal Title
  
  Brain
  
  Volume: 136 (Pt 3) Issue: 3 Pages: 957-970
- DOI
  10.1093/brain/aws367
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23659455, KAKENHI-PROJECT-24390083
[Journal Article] Tissue Plasminogen Activator Thrombolytic Therapy for Acute Ischemic Stroke in 4 Hospital Groups in Japan.2013
- Author(s)
  Kono S, Deguchi K, Morimoto N, Kurata T, Deguchi S, Yamashita T, Ikeda Y, Matsuura T, Narai H, Omori N, Manabe Y, Yunoki T, Takao Y, Kawata S, Kashihara K, Abe K.
- Journal Title
  
  J Stroke Cerebrovasc Dis
  
  Volume: 22 Issue: 3 Pages: 190-196
- DOI
  10.1016/j.jstrokecerebrovasdis.2011.07.016
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24390083, KAKENHI-PROJECT-24659651
[Journal Article] Myotonic dystrophy CTG expansion affects synaptic vesicle proteins, neurotransmission and mouse behaviour2013
- Author(s)
  Hernandez-Hernandez O, Guiraud-Dogan C, Sicot G, Huguet A, Luilier S, Steidl E, Saenger S, Marciniak E, Obriot H, Chevarin C, Nicole A, Revillod L, Charizanis K, Lee KY, Suzuki Y, Kimura T, Matsuura T, Cisneros B, Swanson MS, Trovero F, Buisson B, Bizot JR, Hamon M, Humez S, Bassez G, Metzger F, Buee L, Munnich A, Sergeant N, Gourdon G, Gomes-Pereira M.
- Journal Title
  
  Brain
  
  Volume: 136 (Pt 3) Pages: 957-70
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23659455
[Journal Article] The unstable CCTG repeat responsible for myotonic dystrophy type 2 originates from an AluSx element insertion into an early primate genome2012
- Author(s)
  Kurosaki T, Ueda S, Ishida T, Abe K, Ohno K, Matsuura T
- Journal Title
  
  PLoS ONE
  
  Volume: (in press)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20200078
[Journal Article] 非翻訳リピート異常伸長による脊髄小脳失調症 (SCA8, SCA10, SCA12, SCA36)2012
- Author(s)
  松浦徹, 池田佳生, 阿部康二
- Journal Title
  
  最新医学
  
  Volume: 67 Pages: 1122-1130
- Data Source
  KAKENHI-PROJECT-20200078
[Journal Article] The unstable CCTG repeat responsible for myotonic dystrophy type 2 originates from an AluSx element insertion into an early primate genome2012
- Author(s)
  Kurosaki, T., Ueda, S., Ishida, T., Abe, K., Ohno, K. and Matsuura, T
- Journal Title
  
  PLos One
  
  Volume: 7 Issue: 6 Pages: e38379-e38379
- DOI
  10.1371/journal.pone.0038379
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23657170, KAKENHI-PROJECT-24390083, KAKENHI-PROJECT-24390221
[Journal Article] The unstable CCTG repeat responsible for myotonic dystrophy type 2 originates from an AluSx element insertion into an early primate genome.2012
- Author(s)
  Kurosaki T, Ueda S, Ishida T, Abe K, Ohno K, Matsuura T.
- Journal Title
  
  PLoS ONE
  
  Volume: 7
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23659455
[Journal Article] Myotonic dystrophy type 2 (DM2) is rare in the Japanese population2012
- Author(s)
  Matsuura T, Minami N, Arahata H, Ohno K, Abe K, Hayashi YK, Nishino I
- Journal Title
  
  J Hum Genet
  
  Volume: (印刷中) Issue: 3 Pages: 219-220
- DOI
  10.1038/jhg.2011.152
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21390266, KAKENHI-PROJECT-23659455, KAKENHI-PROJECT-24390083, KAKENHI-PROJECT-24390221
[Journal Article] Four parameters increase the sensitivity and specificity of the exon array analysis and disclose twenty-five novel aberrantly spliced exons in myotonic dystrophy.2012
- Author(s)
  Yamashita Y, Matsuura T, Shinmi J, Amakusa Y, Masuda A, Ito M, Kinoshita M, Furuya H, Abe K, Ibi T, Sahashi K, Ohno K.
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 57 Issue: 6 Pages: 368-374
- DOI
  10.1038/jhg.2012.37
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23659455, KAKENHI-PROJECT-23700422, KAKENHI-PROJECT-24390083, KAKENHI-PROJECT-24390221, KAKENHI-PROJECT-24500469
[Journal Article] Four parameters increase the sensitivity and specificity of the exon array analysis and disclose twenty-five novel aberrantly spliced exons in myotonic dystrophy.2012
- Author(s)
  #Yamashita Y, #Matsuura T(#equally contributed), Shinmi J, Amakusa Y, Masuda A, Ito M, Kinoshita M, Furuya H, Abe K, Ibi T, Sahashi K, Ohno K.
- Journal Title
  
  J Hum Genet
  
  Volume: 57 Pages: 368-74
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23659455
[Journal Article] Myotonic dystrophy type 2 (DM2) is rare in the Japanese population2012
- Author(s)
  Matsuura T, Minami N, Arahata H, Ohno K, Abe K, Hayashi YK, Nishino I
- Journal Title
  
  J Hum Genet
  
  Volume: 57 Pages: 219-220
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20200078
[Journal Article] Four parameters increase the sensitivity and specificity of the exon array analysis and disclose twenty-five novel aberrantly spliced exons in myotonic dystrophy2012
- Author(s)
  Yamashita Y, Matsuura T, Shinmi J, Amakusa Y, Masuda A, Ito M, Kinoshita M, Furuya H, Abe K, Ibi T, Sahashi K, Ohno K.
- Journal Title
  
  J Hum Genet
  
  Volume: (in press)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20200078
[Journal Article] Effect of mitochondrial transcription factor A overexpression on motor neurons in amyotrophic lateral sclerosis model mice2012
- Author(s)
  Morimoto N, Miyazaki K, Sato K, Kurata T, Ikeda Y, Matsuura T, Dongchon K, Ide T, Abe K.
- Journal Title
  
  J Neurosci Res
  
  Volume: 90 Pages: 1200-8
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23659455
[Journal Article] Myotonic dystrophy type 2 (DM2) is rare in the Japanese population.2012
- Author(s)
  Matsuura T, Minami N, Arahata H, Ohno K, Abe K, Hayashi YK, Nishino I.
- Journal Title
  
  J Hum Genet
  
  Volume: 57 Pages: 219-20
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23659455
[Journal Article] Myotonic dystrophy type 2 (DM2) is rare in the Japanese population.2012
- Author(s)
  Matsuura T, Minami N, Arahata H, Ohno K, Abe K, Hayashi YK, Nishino I.
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 57 Pages: 219-20
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23659455
[Journal Article] Hyperuricemia cosegregating with osteogenesis imperfecta is associated with a mutation in GPATCH82011
- Author(s)
  Kaneko H, Kitoh H, Matsuura TMasuda A, Ito M, Mottes M, Rauch F, Ishiguro N, Ohno K.
- Journal Title
  
  Hum Genet
  
  Volume: 130 Pages: 671-83
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23659455
[Journal Article] Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes a type of spinocerebellar ataxia (SCA36) accompanied by motor neuron involvement.2011
- Author(s)
  #Kobayashi H, #Abe K,#Matsuura T(#equally contributed),Ikeda Y,Hitomi T, Akechi Y, Habu T, Yang LW, Okuda H, Koizumi A.
- Journal Title
  
  Am J Hum Genet
  
  Volume: 89 Pages: 121-30
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23659455
[Journal Article] Hyperuricemia cosegregating with osteogenesis imperfecta is associated with a mutation in GPATCH82011
- Author(s)
  Kaneko H, Kitoh H, Matsuura T, Masuda A, Ito M, Mottes M, Rauch F, Ishiguro N, Ohno K
- Journal Title
  
  Human Genetics
  
  Volume: VOL.130 Pages: 671-683
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20200078
[Journal Article] Comparisons of acoustic function in SCA31 and other forms of ataxias2011
- Author(s)
  Ikeda Y, Nagai M, Kurata T, Yamashita T, Ohta Y, Nagotani S, Deguchi K, Takehisa Y, Shiro Y, Matsuura T, Abe K
- Journal Title
  
  Neurol Res
  
  Volume: 33 Pages: 427-432
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20200078
[Journal Article] Comparisons of acoustic function in SCA31 and other forms of ataxias2011
- Author(s)
  Ikeda Y, Nagai M, Kurata T, Yamashita T, Ohta Y, Nagotani S, Deguchi K, Takehisa Y, Shiro Y, Matsuura T, Abe K
- Journal Title
  
  Jouranl of Neurological Research
  
  Volume: VOL.33 Pages: 427-432
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20200078
[Journal Article] Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes a type of spinocerebellar ataxia (SCA36) accompanied by motor neuron involvement.2011
- Author(s)
  Kobayashi H, Abe K, Matsuura T, Ikeda Y, Hitomi T, Akechi Y, Habu T, Yang LW, Okuda H, Koizumi A.
- Journal Title
  
  American Journal of Human Genetics 2011; 89:121-130.
  
  Volume: 89 Pages: 121-30
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23659455
[Journal Article] Comparisons of acoustic function in SCA31 and other forms of ataxias.2011
- Author(s)
  Ikeda Y, Nagai M, Kurata T, Yamashita T, Ohta Y, Nagotani S, Deguchi K, Takehisa Y, S h ir o Y, Matsuura T, Abe K.
- Journal Title
  
  Neurol Res
  
  Volume: 33 Pages: 427-32
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23659455
[Journal Article] Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes a type of spinocerebellar ataxia (SCA36) accompanied by motor neuron involvement2011
- Author(s)
  Kobayashi H, Abe K, Matsuura T, Ikeda Y, Hitomi T, Akechi Y, Habu T, Yang LW, Okuda H, Koizumi A
- Journal Title
  
  American Journal of Hunan Genetics
  
  Volume: VOL.89 Pages: 121-130
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20200078
[Journal Article] Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes a type of spinocerebellar ataxia (SCA36) accompanied by motor neuron involvement2011
- Author(s)
  Kobayashi H, Abe K, Matsuura T, Ikeda Y, Hitomi T, Akechi Y, Habu T, Yang LW, Okuda H, Koizumi A
- Journal Title
  
  Am J Hum Genet
  
  Volume: 89 Pages: 121-130
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20200078
[Journal Article] Spinocerebellar ataxia type 102010
- Author(s)
  松浦徹, 阿部康二
- Journal Title
  
  神経内科 72
  
  Pages: 159-164
- Data Source
  KAKENHI-PROJECT-19590988
[Journal Article] Spinocerebellar ataxia type 102010
- Author(s)
  松浦徹, 阿部康二
- Journal Title
  
  神経内科
  
  Volume: 72 Pages: 159-164
- Data Source
  KAKENHI-PROJECT-20200078
[Journal Article] Ancestral Origin of the ATTCT Repeat Expansion in Spinocerebellar Ataxia Type 10 (SCA10).2009
- Author(s)
  Almeida T, Alonso I, Martins S, Ramos EM, Azevedo L, Ohno K, Amorim A, Saraiva-Pereira ML, Jardim LB, Matsuura T, et. al.
- Journal Title
  
  PLoS One 4
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19590988
[Journal Article] Spinocerebellar ataxia type 31 is associated with “inserted” penta-nucleotide repeats containing (TGGAA)n2009
- Author(s)
  Sato N, Amino T, Kobayashi K, Asakawa S, Ishiguro T, Tsunemi T, Takahashi M,Matsuura T, et al.
- Journal Title
  
  Am J Hum Genet
  
  Volume: 85 Pages: 544-557
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20200078
[Journal Article] Alu-mediated acquisition of unstable ATTCT pentanucleotide repeats in the human ATXN10 gene.2009
- Author(s)
  Kurosaki T, Matsuura T, Ohno K, Ueda S
- Journal Title
  
  Molecular Biology and Evolution 26
  
  Pages: 2573-2579
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20200078
[Journal Article] The ATTCT repeats of spinocerebellar ataxia type 10 display strong nucleosome assemblywhich is enhanced by repeat interruptions.2009
- Author(s)
  Hagerman KA, Ruan H, Edamura KN, Matsuura T, et. al.
- Journal Title
  
  Gene 434
  
  Pages: 29-34
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19590988
[Journal Article] The ATTCT repeats of spinocerebellar ataxia type 10 display strong nucleosome assembly which is enhanced by repeat interruptions2009
- Author(s)
  Hagerman KA, Ruan H, Edamura KN, Matsuura T, et al.
- Journal Title
  
  Gene
  
  Volume: 434 Pages: 29-34
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20200078
[Journal Article] The ATTCT repeats of spinocerebellar ataxia type 10 display strong nucleosome assembly which is enhanced by repeat interruptions.2009
- Author(s)
  Hagerman KA, Ruan H, Edamura KN, Matsuura T, et al.
- Journal Title
  
  Gene
  
  Volume: 434 Pages: 29-34
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20200078
[Journal Article] Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10)2009
- Author(s)
  Almeida T, Alonso I, Martins S, Ramos EM, Azevedo L, Ohno K, Amorim A, Saraiva-Pereira ML, Jardim LB, Matsuura T, et al.
- Journal Title
  
  PLoS One
  
  Volume: 4
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20200078
[Journal Article] Alu-mediated acquisition of unstable ATTCT pentanucleotide repeats in the human ATXN10 gene.2009
- Author(s)
  Kurosaki T, Matsuura T, Ohno K, Ueda S
- Journal Title
  
  Molecular Biology and Evolution
  
  Volume: 26 Pages: 2573-2579
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20200078
[Journal Article] Alu-mediated acquisition of unstable ATTCT pentanucleotide repeats in the human ATXN10 gene.2009
- Author(s)
  Kurosaki T, Matsuura T, Ohno K, Ueda S
- Journal Title
  
  Mol Biol Evol 26
  
  Pages: 2573-2579
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19590988
[Journal Article] Tannic acid facilitates expression of the polypyrimidine tract binding protein and alleviates deleterious inclusion of CHRNA1 exon P3A due to an hnRNP H-disrupting mutation in congenital myasthenic syndrome.2009
- Author(s)
  Bian Y, Masuda A, Matsuura T, Ito M, Okushin K, Engel AG, Ohno K
- Journal Title
  
  Hum Mol Genet 18
  
  Pages: 1229-1237
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19590988
[Journal Article] Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n.2009
- Author(s)
  Sato N, Amino T, Kobayashi K, Asakawa S, Ishiguro T, Tsunemi T, Takahashi M, Matsuura T, et. al.
- Journal Title
  
  Am J Hum Genet 85
  
  Pages: 544-557
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19590988
[Journal Article] SCA10. Clinical Neuroscience月刊2009
- Author(s)
  松浦徹, 大野欽司
- Journal Title
  
  臨床神経科学 27
  
  Pages: 66-68
- Data Source
  KAKENHI-PROJECT-19590988
[Journal Article] Alu-mediated acquisition of unstable ATTCT pentanucleotide repeats in the human ATXN10 gene2009
- Author(s)
  Kurosaki T, Matsuura T, Ohno K, Ueda S
- Journal Title
  
  Mol Biol Evol
  
  Volume: 26 Pages: 2573-2579
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20200078
[Journal Article] Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxiatype 10 (SCA10).2009
- Author(s)
  Almeida T, Alonso I, Martins S, Matsuura T, et al.
- Journal Title
  
  PLoS One
  
  Volume: 4
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20200078
[Journal Article] Tannic acid facilitates expression of the polypyrimidine tract binding protein and alleviates deleterious inclusion of CHRNA1 exon P3A due to an hnRNP H-disrupting mutation in congenital myasthenic syndrome2009
- Author(s)
  Bian Y, Masuda A, Matsuura T, Ito M, Okushin K, Engel AG, Ohno K.
- Journal Title
  
  Human Molecular Genetics 18
  
  Pages: 1229-1237
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19590988
[Journal Article] SCA10. Clinical Neuroscience2009
- Author(s)
  松浦徹, 大野欽司
- Journal Title
  
  月刊臨床神経科学
  
  Volume: 27 Pages: 66-68
- Data Source
  KAKENHI-PROJECT-20200078
[Journal Article] Myotonic dystrophy type 2 in Japan : ancestral origin distinct from Caucasian families2008
- Author(s)
  Saito T, Amakusa Y, Kimura T, Yahara O, Aizawa H, Ikeda Y, Day JW, Ranum LPW, Ohno K, Matsuura T.
- Journal Title
  
  Neurogenetics Vol.9
  
  Pages: 61-63
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19390237
[Journal Article] Long-range PCR for the diagnosis of spinocerebellar ataxia type 10.2008
- Author(s)
  Kurosaki T, *Matsuura T, Ohno K, Ueda S
- Journal Title
  
  Neurogenetics 9
  
  Pages: 151-152
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19590988
[Journal Article] 遺伝性脊髄小脳変性症2008
- Author(s)
  松浦徹
- Journal Title
  
  Modern Physician
  
  Volume: 28 Pages: 1798-1802
- Data Source
  KAKENHI-PROJECT-20200078
[Journal Article] Myotonic dystrophy type 2 in Japan : ancestral origin distinct from Caucasian families.2008
- Author(s)
  Saito T, Amakusa, Y, Kimura T, Yahara O, Aizawa H, Ikeda Y, Day JW, Ranum LPW, Ohno K, Matsuura T
- Journal Title
  
  Neurogenetics 9
  
  Pages: 61-63
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20200078
[Journal Article] hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome2008
- Author(s)
  Masuda A, Shen XM, Ito M, Matsuura T, Engel AG, Ohno K
- Journal Title
  
  Hum Mol Genet Vol.17
  
  Pages: 4022-4035
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19390237
[Journal Article] HnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndromes2008
- Author(s)
  Masuda A, Shen XM, Ito M, Matsuura T, Engel AG, Ohno K.
- Journal Title
  
  Human Molecular Genetics 17
  
  Pages: 4022-4035
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19590988
[Journal Article] Human branch point consensus sequence is yunay2008
- Author(s)
  Gao K, Masuda A, Matsuura T, Ohno K
- Journal Title
  
  Nucleic Acids Res 36
  
  Pages: 2257-2267
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19390237
[Journal Article] 脊髄小脳失調症10 型の分子遺伝学的解析2008
- Author(s)
  松浦徹
- Journal Title
  
  臨床神経学
  
  Volume: 48 Pages: 1-10
- NAID
  10020175893
- Data Source
  KAKENHI-PROJECT-20200078
[Journal Article] Human branch point consensus sequence is yUnAy2008
- Author(s)
  Gao R, Masuda A, Matsuura T, Ohno K.
- Journal Title
  
  Nucleic Acids Research 36
  
  Pages: 2257-2267
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19590988
[Journal Article] HnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupmyasthenic syndrome.2008
- Author(s)
  Masuda A, Shen XM, Ito M, Matsuura T, Engel AG, Ohno K
- Journal Title
  
  Hum Mol Genet 17
  
  Pages: 4022-4035
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19590988
[Journal Article] Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families2008
- Author(s)
  Saito T, Amakusa,Y, Kimura T, Yahara O, Aizawa H, Ikeda Y, Day JW, Ranum LPW, Ohno K, Matsuura T
- Journal Title
  
  Neurogenetics
  
  Volume: 9 Pages: 61-63
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20200078
[Journal Article] 脊髄小脳失調症10型の分遺伝学的解析2008
- Author(s)
  松浦徹
- Journal Title
  
  臨床神経学 48
  
  Pages: 1-10
- Data Source
  KAKENHI-PROJECT-19590988
[Journal Article] Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 172008
- Author(s)
  Gao R, Matsuura T, Coolbaugh M, Zuhlke C, Nakamura K, Rasmussen A, Siciliano MJ, Ashizawa T, Lin X
- Journal Title
  
  Eur J Hum Genet
  
  Volume: 16 Pages: 215-222
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20200078
[Journal Article] Long-range PCR for the diagnosis of spinocerebellar ataxia type 102008
- Author(s)
  Kurosaki T, Matsuura T, Ohno K, Ueda S
- Journal Title
  
  Neurogenetics
  
  Volume: 9 Pages: 151-152
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20200078
[Journal Article] Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families2008
- Author(s)
  Saito T, Amakusa Y, Kimura T, Yahara O, Aizawa H, Ikeda Y, Day JW, Ranum LPW, Ohno K, Matsuura T
- Journal Title
  
  Neurogenetics 9
  
  Pages: 61-63
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19390237
[Journal Article] Long-range PCR for the diagnosis of spinocerebellar ataxia type 102008
- Author(s)
  Kurosaki T, Matsuura T, Ohno K, Ueda S
- Journal Title
  
  Neurogenetics 9
  
  Pages: 151-152
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19390237
[Journal Article] Human branch point consensus sequence is yUnAy2008
- Author(s)
  Gao K, Masuda A, Matsuura T, Ohno K.
- Journal Title
  
  Nucleic Acids Res Vol.36
  
  Pages: 2257-2267
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19390237
[Journal Article] Long-range PCR for the diagnosis of spinocerebellar ataxia type 102008
- Author(s)
  Kurosaki T, Matsuura T, Ohno K, Ueda S.
- Journal Title
  
  Neurogenetics Vol.9
  
  Pages: 151-152
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19390237
[Journal Article] Long-range PCR for the diagnosis of spinocerebellar ataxia type 10.2008
- Author(s)
  Kurosaki T, Matsuura T, Ohno K, Ueda S
- Journal Title
  
  Neurogenetics 9
  
  Pages: 151-152
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20200078
[Journal Article] Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families2008
- Author(s)
  Saito T, Amakusa, Y, Kimura T, Yahara O, Aizawa H, Ikeda Y, Day JW, Ranum LPW, Ohno K, Matsuura T
- Journal Title
  
  Neurogenetics 9
  
  Pages: 61-63
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19590988
[Journal Article] 遺伝性脊髄小脳変性症2008
- Author(s)
  松浦徹
- Journal Title
  
  Modern Physician 28
  
  Pages: 1798-1802
- Data Source
  KAKENHI-PROJECT-19590988
[Journal Article] hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome2008
- Author(s)
  Masuda A, Shen XM, Ito M, Matsuura T, Engel AG, Ohno K
- Journal Title
  
  Hum Mol Genet 17
  
  Pages: 4022-4035
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19390237
[Journal Article] Thermodynamic instability of siRNA duplex is a prerequisite for dependable prediction of siRNA activities2007
- Author(s)
  Ichihara M, Murakumo Y, Masuda A, Matsuura T, Asai N, Jijiwa M, Ishida M, Shinmi J, Yatsuya H, Qiao S, Takahashi M, Ohno K
- Journal Title
  
  Nucleic Acids Res 35
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19390237
[Journal Article] In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites.2007
- Author(s)
  Sahashi K, Masuda A, Matsuura T, Shinmi J, Zhang Z, Takeshima Y, Matsuo M, Sobue G, Ohno K
- Journal Title
  
  Nucleic Acids Res 35
  
  Pages: 5995-6003
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19590988
[Journal Article] Thermodynamic instability of siRNA duplex is a prerequisite for dependable prediction of siRNA activities.2007
- Author(s)
  Ichihara M, Murakumo Y, Masuda A, Matsuura T, et al.
- Journal Title
  
  Nucleic Acids Res 35
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18023016
[Journal Article] In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites2007
- Author(s)
  Sahashi K, Masuda A, Matsuura T, et al.
- Journal Title
  
  Nucleic Acids Res 35
  
  Pages: 5995-6003
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19590988
[Journal Article] In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites.2007
- Author(s)
  Sahashi K, Masuda A, Matsuura T, et al.
- Journal Title
  
  Nucleic Acids Res 35
  
  Pages: 5995-6003
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18023016
[Journal Article] Thermodynamic instability of siRNA duplex is a prerequisite for depe ndable prediction of siRNA activities2007
- Author(s)
  Ichihara M, Murakumo Y, Masuda A, Matsuura T, et al.
- Journal Title
  
  Nucleic Acids Res 35
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19590988
[Journal Article] In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites2007
- Author(s)
  Sahashi K, Masuda A, Matsuura T, Shinmi J, Zhang Z, Takeshima Y, Matsuo M, Sobue G, Ohno K
- Journal Title
  
  Nucleic Acids Res 35
  
  Pages: 5995-6003
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19390237
[Journal Article] Thermodynamic instability of siRNA duplex is a prerequisite for dependable prediction of siRNA activities.2007
- Author(s)
  Ichihara M, Murakumo Y, Masuda A, Matsuura T, Asai N, Jijiwa M, Ishida M, Shinmi J, Yatsuya H, Qiao S, Takahashi M, Ohno K
- Journal Title
  
  Nucleic Acids Res 35
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19590988
[Journal Article] Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10. Repeat purity as a disease modifier?2006
- Author(s)
  Matsuura T
- Journal Title
  
  American Journal of Human Genetics 78・1
  
  Pages: 125-129
- Data Source
  KAKENHI-PROJECT-18023016
[Journal Article] Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10. Repeat purity as a disease modifier?2006
- Author(s)
  Matsuura T他
- Journal Title
  
  American Journal of Human Genetics 78・1
  
  Pages: 125-129
- Data Source
  KAKENHI-PROJECT-18590290
[Journal Article] Human branch point consensus sequeis yUnAy.
- Author(s)
  Gao R, Masuda A, Matsuura T, Ohno K
- Journal Title
  
  Nucleic Acids 36
  
  Pages: 2257-2267
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19590988
[Journal Article] Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17.
- Author(s)
  Gao R, Matsuura T, Coolbaugh M, Zuhlke C, Nakamura K, Rasmussen A, SicilianMJ, et. al.
- Journal Title
  
  Eur J 16
  
  Pages: 215-222
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19590988
[Patent] 筋強直性ジストロフィー治療薬2010
- Inventor(s)
  大野欽司, 松浦徹
- Industrial Property Rights Holder
  国立大学法人名古屋大学
- Filing Date
  2010-07-16
- Data Source
  KAKENHI-PROJECT-20200078
[Patent] 筋強直性ジストロフィー治療薬2010
- Inventor(s)
  大野欽司、松浦徹
- Industrial Property Rights Holder
  名古屋大学
- Acquisition Date
  2010-07-16
- Data Source
  KAKENHI-PROJECT-20200078
[Patent] 筋強直性ジストロフィーにおけるスプライシング異常を補正する低分子化合物2009
- Inventor(s)
  大野欽司、松浦徹
- Industrial Property Rights Holder
  国立大学法人名古屋大学
- Filing Date
  2009-06-25
- Data Source
  KAKENHI-PROJECT-20200078
[Patent] 筋強直性ジストロフィーにおけるスプライシング異常を補正する低分子化合物2009
- Inventor(s)
  大野欽司, 松浦徹
- Industrial Property Rights Holder
  国立大学法人名古屋大学
- Filing Date
  2009-06-25
- Data Source
  KAKENHI-PROJECT-20200078
[Presentation] Inhibition of nuclear-cytoplasmic trafficking of Drb1/RBM45 induces toxic cytoplasmic aggregates2016
- Author(s)
  Mashiko T, Sakashita E, Kasashima K, Tominaga K, Kuroiwa K, Matsuura T, Endo H
- Organizer
  The 21st Annual Meeting of the RNA Society
- Place of Presentation
  国立京都国際会館（京都府・京都市）
- Year and Date
  2016-06-28
- Data Source
  KAKENHI-PROJECT-26670170
[Presentation] A Collaborated Study of Fragile X syndrome and Fragile-X-Associated Tremor/ataxia Syndrome (FXTAS) for promoting clinical research in Japan2016
- Author(s)
  Adachi K, Matsuura T, Ishii K, Nakayama Y, Goto Y, Nanba E
- Organizer
  The 13th International Congress of Human Genetics
- Place of Presentation
  国立京都国際会館（京都府・京都市）
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26670170
[Presentation] A Collaborated Study of Fragile X syndrome and its related disorders for promoting clinical research in Japan2016
- Author(s)
  Adachi K, Nakayama Y, Ishii K, Matsuura T, Goto Y, Nanba E
- Organizer
  The 15th International Fragile X Conference
- Place of Presentation
  San Antonio (USA)
- Year and Date
  2016-07-20
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26670170
[Presentation] Novel compound heterozygous mutations of SPG11 gene in sporadic spastic paraplegia with thin corpus callosum2016
- Author(s)
  Shimazaki H, Matsuura T
- Organizer
  The 13th International Congress of Human Genetics
- Place of Presentation
  国立京都国際会館（京都府・京都市）
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26670170
[Presentation] 筋強直性ジストロフィーの分子病態～治療2015
- Author(s)
  松浦　徹
- Organizer
  第6回遺伝カウンセリングアドバンスドセミナー
- Place of Presentation
  大阪
- Year and Date
  2015-01-10
- Invited
- Data Source
  KAKENHI-PROJECT-24390083
[Presentation] RNA disease mechanism in DM1 and SCA10 brain2015
- Author(s)
  Tohru Matsuura
- Organizer
  第38回日本神経科学大会シンポジウム講演
- Place of Presentation
  神戸
- Year and Date
  2015-07-29
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-24390083
[Presentation] RNA disease mechanism in DM1 and SCA10 brain.2015
- Author(s)
  Tohru Matsuura
- Organizer
  第38回日本神経科学大会
- Place of Presentation
  神戸
- Year and Date
  2015-07-29
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26670170
[Presentation] RNA-mediated disease mechanism of spinocerebellar ataxia type 10.2012
- Author(s)
  Matsuura T, Kurosaki T, Muramatsu S, Shimazaki K, Ohno K, and Abe K.
- Organizer
  7th International Conference on Unstable Microsatellites and Human Disease.
- Place of Presentation
  Strasbourg(France)
- Data Source
  KAKENHI-PROJECT-23659455
[Presentation] 新しいALS/SCA cross road mutation AsidanのRNA病態メカニズム解析2012
- Author(s)
  松浦徹、明地雄司、池田佳生、森本展年、宮崎一徳、阿部康二小林果、小泉昭夫
- Organizer
  第53回日本神経学会学術大会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23659455
[Presentation] RNA-mediated disease mechanism of spinocerebellar ataxia type 10.2012
- Author(s)
  Matsuura T, Kurosaki T, Muramatsu S, Shimazaki K, Ohno K, Abe K.
- Organizer
  7th International Conference on Unstable Microsatellites & Human Disease
- Place of Presentation
  Strasbourg, France
- Data Source
  KAKENHI-PROJECT-24390083
[Presentation] RNA-mediated disease mechanism of spinocerebellar ataxia type 102010
- Author(s)
  松浦徹
- Organizer
  第51回日本神経学会総会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-20200078
[Presentation] RNA-mediated disease mechanism of spinocerebellar ataxia type 102010
- Author(s)
  松浦徹
- Organizer
  第51回日本神経学会総会
- Place of Presentation
  東京国際フォーラム(東京都)(シンポジウム)
- Year and Date
  2010-05-22
- Data Source
  KAKENHI-PROJECT-20200078
[Presentation] 筋強直性ジストロフィー1 型(DM1)の脳特異的スプライシング異常解析2009
- Author(s)
  松浦徹
- Organizer
  第50回日本神経学会総会
- Place of Presentation
  仙台
- Data Source
  KAKENHI-PROJECT-20200078
[Presentation] 筋強直性ジストロフィー1型スプライシング異常の既認可薬による制御2009
- Author(s)
  松浦徹
- Organizer
  第18回日本人類遺伝学会総会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-20200078
[Presentation] Misregulation of diacylglycerol kinase eta (DGKη) splicing as a potential cause of neuropsychiatric symptoms in myotonic dystrophy type 12009
- Author(s)
  Matsuura T
- Organizer
  7^<th> International Myotonic Dystrophy Consortium Meeting
- Place of Presentation
  Wurzburg, Germany
- Data Source
  KAKENHI-PROJECT-20200078
[Presentation] 筋強直性ジストロフィー1型スプライシング異常の既認可薬による制御2009
- Author(s)
  松浦徹
- Organizer
  第18回日本人類遺伝学会総会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-19590988
[Presentation] Misregulation of diacylglycerol kinase et a(DGKη)splicing as a potential cause of neuropsychiatric symptoms in myotonic dystrophy type 12009
- Author(s)
  Matsuura T, et al.
- Organizer
  7th International Myotonic Dystrophy Consortium Meeting
- Place of Presentation
  Wurzburg, Germany
- Data Source
  KAKENHI-PROJECT-19590988
[Presentation] Misregulation of diacylglycerol kinase eta (DGKη) splicing as a potential cause of neuropsychiatric symptoms in myotonic dystrophy type 12009
- Author(s)
  Matsuura T
- Organizer
  7thInternational Myotonic Dystrophy Consortium Meeting
- Place of Presentation
  Wurzburg, Germany
- Data Source
  KAKENHI-PROJECT-19590988
[Presentation] Misregulation of diacylglycerol kinase eta (DGKη)splicing as a potential cause of neuropsychiatric symptoms in myotonic dystrophy type2009
- Author(s)
  Matsuura T, et al.
- Organizer
  7th International Myotonic Dystrophy Consortium Meeting
- Place of Presentation
  Wurzburg, Germany
- Data Source
  KAKENHI-PROJECT-20200078
[Presentation] 筋強直性ジストロフィー1型(DM1)の脳特異的スプライシング異常解析2009
- Author(s)
  松浦徹
- Organizer
  第50回日本神経学会総会
- Place of Presentation
  仙台
- Data Source
  KAKENHI-PROJECT-19590988
[Presentation] Misregulation of diacylglycerol kinase eta (DGKη) splicing as a potential cause of neuropsychiatric symptoms in myotonic dystrophy type 1.2009
- Author(s)
  Matsuura T, et al.
- Organizer
  7th International Myotonic Dystrophy Consortium Meeting
- Place of Presentation
  Wurzburg, Germany
- Data Source
  KAKENHI-PROJECT-20200078
[Presentation] 脊髄小脳失調症10型の分子遺伝学的解析2008
- Author(s)
  松浦徹
- Organizer
  第49回日本神経学会総会2007年度学会賞招待講演
- Place of Presentation
  横浜
- Data Source
  KAKENHI-PROJECT-20200078
[Presentation] 脊髄小脳失調症10型の分子遺伝学的解析2008
- Author(s)
  松浦徹
- Organizer
  第49回日本神経学会総会2007年度学会賞招待講演
- Place of Presentation
  横浜
- Data Source
  KAKENHI-PROJECT-19590988
[Presentation] Myotonic dystrophy type 2 in Japan : distinct ancestral origin from Caucasian families2007
- Author(s)
  Matsuura T, Amakusa Y, et al.
- Organizer
  6^<th> international Myotonic Dystrophy Consortium Meeting
- Place of Presentation
  Milan, Italy
- Data Source
  KAKENHI-PROJECT-18023016
[Presentation] 筋強直性ジストロフィー1型(DM1)の網羅的pre-mRNAスプライシング異常解析2007
- Author(s)
  松浦徹
- Organizer
  第48回日本神経学会総会
- Place of Presentation
  名古屋
- Data Source
  KAKENHI-PROJECT-19590988
[Presentation] Comprehensive analysis of aberrantly spliced exons in myotonic dystrophy type 1 using Affymetrix Exon Array2007
- Author(s)
  Yamashita Y, Matsuura T, Shinmi J, Ibi T, Kinoshita M, Kimura T, Yahara O, Sahashi K, Ohno K
- Organizer
  57th Annual Meeting of the American Society of Human Genetics
- Place of Presentation
  San Diego, California, USA
- Data Source
  KAKENHI-PROJECT-19390237
[Presentation] Comprehensive analysis of aberrantly spliced exons in myotonic dystrophy type 1 using Affymetrix Exon Array2007
- Author(s)
  Yamashita Y, Matsuura T, Shinmi J, et al.
- Organizer
  American Society of Human Genetics
- Place of Presentation
  San Diego, CA
- Data Source
  KAKENHI-PROJECT-19590988
[Presentation] Myotonic dystrophy type 2 in Japan: distinct ancestral origin from Caucasian familiesne2007
- Author(s)
  Amakusa Y, Matsuura T, Saito T, Kimura T, Yahara O, Aizawa H, Ikeda Y, Day JW, Ranum LPW, Ohno K
- Organizer
  57th Annual Meeting of the American Society of Human Genetics
- Place of Presentation
  San Diego, California, USA
- Data Source
  KAKENHI-PROJECT-19390237
[Presentation] Myotonic dystrophy type 2 in Japan: distinct ancestral origin from Caucasian families2007
- Author(s)
  Matsuura T
- Organizer
  6th international Myotonic Dystrophy Consortium Meeting
- Place of Presentation
  Milan, Italy
- Data Source
  KAKENHI-PROJECT-19590988

1. OHNO Kinji (80397455)

# of Collaborated Projects: 4 results

# of Collaborated Products: 30 results
2. SUZUKI Motoshi (80236017)

# of Collaborated Projects: 2 results

# of Collaborated Products: 0 results
3. MASUDA Akio (10343203)

# of Collaborated Projects: 2 results

# of Collaborated Products: 6 results
4. IKEDA Yoshio (00282400)

# of Collaborated Projects: 2 results

# of Collaborated Products: 13 results
5. Ishii Kazuhiro (70323293)

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
6. MURATE Takashi (30239537)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
7. 嶋崎晴雄

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
8. 滑川道人

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
9. 石田貴文

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
10. 中山祐二

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
11. 阿部康二

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
12. 塩田倫史

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

Matsuura Tohru 松浦 徹

MATSUURA Tohru 松浦 徹

Research Projects

Research Products

Co-Researchers

脆弱X関連振戦運動失調症候群の不安定リピート伸長による細胞死と腫瘍化メカニズ ムPrincipal Investigator

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Long-read sequencing across the DM2 repeat expansion reveals unique insight of repeat expansion structurePrincipal Investigator

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RAN translation and repeat instabilty mechanism in non-coding repeat expansion disordersPrincipal Investigator

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Repeat instability and RNA-mediated disease mechanism of non-coding repeat expansion ataxiasPrincipal Investigator

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Study on neuron-specific aberrant splicings in myotonic dystrophiesPrincipal Investigator

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Non-coding repeat expansion disorders - characterization of expanded RNA repeat associated with SCA10 and DM2Principal Investigator

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Molecular bases and their regulations of mRNA aberrations in neuromuscular transmission defects and other muscular diseases

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Study on aberrant splicings in dominant non-coding repeat expansion disordersPrincipal Investigator

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脊髄小脳変性症10型の神経変性とインスタビリティー機構Principal Investigator

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Effect of repeat instability on cancer and neurological diseases

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Molecular pathomechanisms of congenital defects of neuromuscular transmission

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[Journal Article] CGG repeat RNA G-quadruplexes interact with FMRpolyG to cause neuronal dysfunction in fragile X-related tremor/ataxia syndrome2021

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[Journal Article] A newly identified NES sequence present in spastin regulates its subcellular localization and microtubule severing activity2021

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Matsuura Tohru 松浦徹

MATSUURA Tohru 松浦徹

脆弱X関連振戦運動失調症候群の不安定リピート伸長による細胞死と腫瘍化メカニズムPrincipal Investigator