• Search Research Projects
  • Search Researchers
  • How to Use
  1. Back to previous page

Takahashi Masanori  高橋 正紀

ORCIDConnect your ORCID iD *help
… Alternative Names

高橋 正紀  タカハシ マサノリ

TAKAHASHI Masanori  高橋 正紀

Less
Researcher Number 20359847
Other IDs
Affiliation (Current) 2025: 大阪大学, 大学院 医学系研究科, 教授
Affiliation (based on the past Project Information) *help 2022 – 2023: 大阪大学, 大学院医学系研究科, 教授
2019 – 2021: 大阪大学, 医学系研究科, 教授
2016 – 2017: 大阪大学, 医学系研究科, 教授
2016: 大阪大学, 大学院医学系研究科, 教授
2015: 大阪大学, 医学(系)研究科(研究院), 講師 … More
2011 – 2013: 大阪大学, 医学(系)研究科(研究院), 助教
2007 – 2010: Osaka University, GRADUATE SCHOOL OF MEDICINE, ASSISTANT PROFESSOR
2004 – 2006: 大阪大学, 医学系研究科, 助手 Less
Review Section/Research Field
Principal Investigator
Neurology / Basic Section 52020:Neurology-related
Except Principal Investigator
Basic Section 52020:Neurology-related / Medical sociology / Nerve anatomy/Neuropathology
Keywords
Principal Investigator
mRNA / スプライシング / 筋疾患 / 骨格筋 / 筋強直性ジストロフィー / パッチクランプ / イオンチャネル / ナトリウムチャネル / SKELETAL MUSCLE / CALCIUM … More / SPLICING / カルシウム / 心臓 / チャネル病 / シミュレーション / 網羅的解析 / 脳 / リピート病 / 神経ネットワーク / 神経変性疾患 / 小脳 / 大脳 / 認知機能 / 中枢神経 / RNA / 筋強直性ジストロフィ / 反復発作性失調症 / 遺伝学的解析 / 電気生理 / 一塩基多型 / 次世代シークエンサ / CYTOSKELETAL PROTEIN / MUSCLE DISEASE / ジストロブレビン / ジストロフィン / 小胞体ストレス / 細胞骨格タンパク / ANTIARRHYTHMIC / NA CHANNEL / RYANODINE RECEPTOR / NEUROMUSCULAR DISORDER / 抗不整脈薬 / リアノジン受容体 / フランス / 国際情報交換 / 不整脈 / mRNA / スプライジング … More
Except Principal Investigator
ナトリウムチャネル / カリウムチャネル / カルシウムチャネル / 神経筋チャネル病 / Cav2.1 / 遺伝子解析 / EA9 / EA1 / EA2 / 反復発作性運動失調症 / チャネル病 / 患者との協働 / 患者とのコミュニケーション / 患者参加型研究 / ダイナミック・コンセント / 研究ガバナンス / 医学研究 / クロマチン構造 / 疾患特異的iPS細胞 / CTGリピート / iPS細胞 / CTGリピート伸長 / 筋強直性ジストロフィー / 患者由来iPS細胞 / 病態再現 Less
  • Research Projects

    (9 results)
  • Research Products

    (132 results)
  • Co-Researchers

    (18 People)
  •  神経筋チャネル病の遺伝子型・表現型相関解明を目指した診断パイプラインの構築

    • Principal Investigator
      久保田 智哉
    • Project Period (FY)
      2022 – 2024
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 52020:Neurology-related
    • Research Institution
      Osaka University
  •  Multidimensional Analyses of the Central Nervous System Pathophysiology of Repeat Expansion Disease: Focusing on Myotonic DystrophyPrincipal Investigator

    • Principal Investigator
      Takahashi Masanori
    • Project Period (FY)
      2019 – 2021
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Review Section
      Basic Section 52020:Neurology-related
    • Research Institution
      Osaka University
  •  Genetic and pathophysiological analysis of periodic paralysesPrincipal Investigator

    • Principal Investigator
      Takahashi Masanori
    • Project Period (FY)
      2015 – 2017
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Neurology
    • Research Institution
      Osaka University
  •  Development of medical research governance for 21st century by continuous communication with patients

    • Principal Investigator
      KATO Kazuto
    • Project Period (FY)
      2015 – 2016
    • Research Category
      Grant-in-Aid for Challenging Exploratory Research
    • Research Field
      Medical sociology
    • Research Institution
      Osaka University
  •  Myotonic dystrophy type 1 patient-derived iPSCs for the investigation of CTG repeat instability

    • Principal Investigator
      SAKURAI Hidetoshi
    • Project Period (FY)
      2014 – 2016
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Nerve anatomy/Neuropathology
    • Research Institution
      Kyoto University
  •  Role of abnormal RNA for the pathophysiology of hereditary muscle diseasesPrincipal Investigator

    • Principal Investigator
      TAKAHASHI Masanori
    • Project Period (FY)
      2011 – 2013
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Neurology
    • Research Institution
      Osaka University
  •  Investigation of the pathomechanism of myotonic syndromes-Na channel disorders of skeletal muscle and myotonic dystrophyPrincipal Investigator

    • Principal Investigator
      TAKAHASHI Masanori
    • Project Period (FY)
      2008 – 2010
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Neurology
    • Research Institution
      Osaka University
  •  STUDY OF THE PATHOPHYSIOLOGY OF MYOTOIC DYSTROPHY TOWARD THE FUTURE THERAPY FROM THE UNDERSPAND]NG OF MUSCLE WASTING MECHANISMPrincipal Investigator

    • Principal Investigator
      TAKAHASHI Masanori
    • Project Period (FY)
      2006 – 2007
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Neurology
    • Research Institution
      Osaka University
  •  INVESTIGATION OF PATHOMECHANISM AND TREATMENT OF MYOTONIC DYSTROPHYPrincipal Investigator

    • Principal Investigator
      TAKAHASHI Masanori
    • Project Period (FY)
      2004 – 2005
    • Research Category
      Grant-in-Aid for Scientific Research (C)
    • Research Field
      Neurology
    • Research Institution
      OSAKA UNIVERSITY

All 2023 2022 2021 2020 2019 2018 2017 2016 2015 2014 2013 2012 2011 2010 2009 2008 2007 2005 2004 Other

All Journal Article Presentation Book Other

  • [Book] 筋強直性ジストロフィー筋疾患診療ハンドブック(青木正志編集)2013

    • Author(s)
      中森雅之、高橋正紀
    • Publisher
      中外医学社
    • Data Source
      KAKENHI-PROJECT-23591245
  • [Book] 筋疾患診療ハンドブック 筋強直性ジストロフィー2013

    • Author(s)
      中森雅之、高橋正紀
    • Total Pages
      206
    • Publisher
      中外医学社
    • Data Source
      KAKENHI-PROJECT-23591245
  • [Book] 筋強直性ジストロフィー神経疾患・診療ガイドライン-最新の診療指針(鈴木則宏編)2009

    • Author(s)
      久保田智哉、高橋正紀、佐古田三郎
    • Publisher
      総合医学社
    • Data Source
      KAKENHI-PROJECT-20590998
  • [Book] Annual Review神経2008 (筋強直性ジストロフィー症の病態研究の進歩)2008

    • Author(s)
      高橋正紀 佐古田三郎
    • Publisher
      中外医学社
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18590938
  • [Book] Annual Review神経2008(筋強直性ジストトロフィー症の病態研究の進歩)2008

    • Author(s)
      高橋正紀佐古田三郎
    • Publisher
      中外医学社
    • Data Source
      KAKENHI-PROJECT-18590938
  • [Book] 神経内科の最新医療 第8章3項 筋強直性ジストロフィーの病態と治療(金澤一郎ほか 編集主幹)2004

    • Author(s)
      高橋正紀, 松村剛
    • Publisher
      先端医療技術研究所
    • Data Source
      KAKENHI-PROJECT-16590825
  • [Journal Article] Hyperkalemic periodic paralysis associated with a novel missense variant located in the inner pore of Nav1.4.2023

    • Author(s)
      Segawa K, Nishiyama M, Mori I, Kubota T, Takahashi MP.
    • Journal Title

      Brain Dev.

      Volume: 45(4) Issue: 4 Pages: 205-211

    • DOI

      10.1016/j.braindev.2022.12.003

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22K07493, KAKENHI-PROJECT-22K09119
  • [Journal Article] Optical measurement of gating pore currents in hypokalemic periodic paralysis model cells2023

    • Author(s)
      Kubota Tomoya、Takahashi Satoe、Yamamoto Risa、Sato Ruka、Miyanooto Aya、Yamamoto Reina、Yamauchi Kosuke、Homma Kazuaki、Takahashi Masanori P.
    • Journal Title

      Disease Models & Mechanisms

      Volume: 16 Issue: 6

    • DOI

      10.1242/dmm.049704

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-22K07493
  • [Journal Article] Characteristics of myotonic dystrophy patients in the national registry of Japan2022

    • Author(s)
      Sugimoto Marika、Kuru Satoshi、Takada Hiroto、Horie Riho、Yamauchi Kosuke、Kubota Tomoya、Matsumura Tsuyoshi、Nakamura Harumasa、Kimura En、Takahashi Masanori P.
    • Journal Title

      Journal of the Neurological Sciences

      Volume: 432 Pages: 120080-120080

    • DOI

      10.1016/j.jns.2021.120080

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19K07992
  • [Journal Article] これから変わる筋強直性ジストロフィーの医療2022

    • Author(s)
      高橋正紀
    • Journal Title

      難病と在宅ケア

      Volume: 27 Pages: 21-24

    • Data Source
      KAKENHI-PROJECT-19K07992
  • [Journal Article] Periodic paralysis due to cumulative effects of rare variants in SCN4A with small functional alterations.2022

    • Author(s)
      Shibano M, Kubota T, Kokubun N, Miyaji Y, Kuriki H, Ito Y, Hamanoue H, Takahashi MP.
    • Journal Title

      Muscle Nerve.

      Volume: 66(6) Issue: 6 Pages: 757-761

    • DOI

      10.1002/mus.27725

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-22K07493
  • [Journal Article] Quality of life and subjective symptom impact in Japanese patients with myotonic dystrophy type 12022

    • Author(s)
      Fujino Haruo、Saito Toshio、Takahashi Masanori P.、Takada Hiroto、Nakayama Takahiro、Imura Osamu、Matsumura Tsuyoshi
    • Journal Title

      BMC Neurology

      Volume: 22 Issue: 1 Pages: 1-7

    • DOI

      10.1186/s12883-022-02581-w

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K07992, KAKENHI-PROJECT-19K03314, KAKENHI-PROJECT-21K03047
  • [Journal Article] Metabolic complications in myotonic dystrophy type 1: A cross-sectional survey using the National Registry of Japan2021

    • Author(s)
      Hama Manami、Horie Riho、Kubota Tomoya、Matsumura Tsuyoshi、Kimura En、Nakamura Harumasa、Takahashi Masanori P.、Takada Hiroto
    • Journal Title

      Journal of the Neurological Sciences

      Volume: 427 Pages: 117511-117511

    • DOI

      10.1016/j.jns.2021.117511

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-19K07992
  • [Journal Article] A slipped-CAG DNA-binding small molecule induces trinucleotide-repeat contractions in vivo2020

    • Author(s)
      Nakamori Masayuki, Panigrahi Gagan B., Lanni Stella, et. al.
    • Journal Title

      Nature Genetics

      Volume: 52 Issue: 2 Pages: 146-159

    • DOI

      10.1038/s41588-019-0575-8

    • Peer Reviewed / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-18K05355, KAKENHI-PROJECT-19K07992, KAKENHI-PROJECT-19K22597, KAKENHI-PROJECT-26000007, KAKENHI-PROJECT-16H05321
  • [Journal Article] Cardiac conduction disorders as markers of cardiac events in myotonic dystrophy type 1.2020

    • Author(s)
      2.Itoh H, Hisamatsu T, Tamura T, Segawa K, Takahashi T, Takada H, Kuru S, Wada C, Suzuki M, Suwazono S, Sasaki S, Okumura K, Horie M, Takahashi MP, Matumura T.
    • Journal Title

      J Am Heart Assoc.

      Volume: 9 Issue: 17

    • DOI

      10.1161/jaha.119.015709

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-19K07992, KAKENHI-PROJECT-20K08473
  • [Journal Article] 神経筋疾患、新たな治療の時代へ 各疾患の治療の現状 筋強直性ジストロフィー2020

    • Author(s)
      中森雅之、高橋正紀
    • Journal Title

      小児科診療

      Volume: 83 Pages: 45-50

    • Data Source
      KAKENHI-PROJECT-19K07992
  • [Journal Article] Straightjacket/α2δ3 deregulation is associated with cardiac conduction defects in myotonic dystrophy type 1.2019

    • Author(s)
      Plantie E, Nakamori M, Renaud Y, Huguet A, Choquet C, Dondi C, Miquerol L, Takahashi M, Gourdon G, Junion G, Jagla T, Zmojdzian M, Jagla K
    • Journal Title

      eLife

      Volume: 8

    • DOI

      10.7554/elife.51114

    • Peer Reviewed / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19K07992, KAKENHI-PROJECT-19K22597, KAKENHI-PROJECT-16H05321
  • [Journal Article] 筋強直性ジストロフィーの臨床および病態機序2019

    • Author(s)
      高橋正紀
    • Journal Title

      脳神経内科

      Volume: 91 Pages: 436-442

    • Data Source
      KAKENHI-PROJECT-19K07992
  • [Journal Article] Myotonic dystrophy type 1 patient-derived iPSCs for the investigation of CTG repeat instability.2017

    • Author(s)
      Ueki J, Nakamori M, Nakamura M, Nishikawa M, Yoshida Y, Tanaka A, Morizane A, Kamon M, Araki T, Takahashi MP, Watanabe A, Inagaki N, Sakurai H.
    • Journal Title

      Sci Rep.

      Volume: 13 Issue: 1 Pages: 42522-42522

    • DOI

      10.1038/srep42522

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-16H05326, KAKENHI-PROJECT-15J04853, KAKENHI-PROJECT-25713034, KAKENHI-PROJECT-26430053, KAKENHI-PROJECT-15K15339, KAKENHI-PROJECT-15K21113, KAKENHI-PROJECT-17K16711, KAKENHI-PROJECT-16H05321
  • [Journal Article] Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy.2016

    • Author(s)
      Freyermuth F, Rau F, Kokunai Y, Linke T, Sellier C, Nakamori M, Kino Y,.......Zimmer T, Furling D, Takahashi MP, Charlet-Berguerand N.
    • Journal Title

      Nat Commun.

      Volume: 7 Issue: 1 Pages: 11067-11067

    • DOI

      10.1038/ncomms11067

    • Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K09314, KAKENHI-PROJECT-25460406, KAKENHI-PROJECT-25461053, KAKENHI-PROJECT-15K15339, KAKENHI-PROJECT-15H04818, KAKENHI-PROJECT-25461106, KAKENHI-PROJECT-25253066, KAKENHI-PROJECT-25713034, KAKENHI-PUBLICLY-15H01567, KAKENHI-PUBLICLY-16H01345, KAKENHI-PROJECT-15H01801, KAKENHI-PROJECT-16H05238, KAKENHI-PROJECT-15K15342, KAKENHI-PROJECT-16K09431
  • [Journal Article] Episodic ataxia type 2 manifests as epileptiform electroencephalographic activity with no epileptic attacks in two family members2016

    • Author(s)
      階堂三砂子, 古田 充, 中森雅之, 湯浅義人, 高橋正紀
    • Journal Title

      Rinsho Shinkeigaku

      Volume: 56 Issue: 4 Pages: 260-264

    • DOI

      10.5692/clinicalneurol.cn-000854

    • NAID

      130005149743

    • ISSN
      0009-918X, 1882-0654
    • Language
      Japanese
    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-15K09314
  • [Journal Article] Using Digital Technologies to Engage with Medical Research: Views of Myotonic Dystrophy Patients in Japan.2016

    • Author(s)
      Coathup V, Teare H, Minari J, Yoshizawa G, Kaye J, Takahashi M and Kato K.
    • Journal Title

      BMC Medical Ethics

      Volume: 17:51 Issue: 1 Pages: 1-8

    • DOI

      10.1186/s12910-016-0132-2

    • Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K15167, KAKENHI-PROJECT-15K19149
  • [Journal Article] A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes.2016

    • Author(s)
      Kato H, Kokunai Y, Dalle C, Kubota T, Madokoro Y, Yuasa H, Uchida Y, Ikeda T, Mochizuki H, Nicole S, Fontaine B, Takahashi MP, Mitake S
    • Journal Title

      J Neurol Sci

      Volume: 369 Pages: 254-258

    • DOI

      10.1016/j.jns.2016.08.030

    • Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K09314
  • [Journal Article] Phenotypic variability in childhood of skeletal muscle sodium channelopathies.2015

    • Author(s)
      Yoshinaga H, Sakoda S, Shibata T, Akiyama T, Oka M, Yuan JH, Takashima H, Takahashi MP, Kitamura T, Murakami N, Kobayashi K.
    • Journal Title

      Pediatr Neurol.

      Volume: 52 Issue: 5 Pages: 504-508

    • DOI

      10.1016/j.pediatrneurol.2015.01.014

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-15K09314
  • [Journal Article] 筋強直性ジストロフィーにおける筋強直、心臓伝導障害とイオンチャネル異常2014

    • Author(s)
      久保田智哉、中森雅之、高橋正紀
    • Journal Title

      臨床病理

      Volume: 62 Pages: 246-254

    • Data Source
      KAKENHI-PROJECT-23591245
  • [Journal Article] A Kir3.4 mutation causes Andersen–Tawil syndrome by an inhibitory effect on Kir2.1.2014

    • Author(s)
      Kokunai Y, Nakata T, Furuta M, Sakata S, Kimura H, Aiba T, Yoshinaga M, Osaki Y, Nakamori M, Itoh H, Sato T, Kubota T, Kadota K, Shindo K, Mochizuki H, Shimizu W, Horie M, Okamura Y, Ohno K, Takahashi MP
    • Journal Title

      Neurology

      Volume: 82 Issue: 12 Pages: 1058-64

    • DOI

      10.1212/wnl.0000000000000239

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-23591245, KAKENHI-PROJECT-24390221, KAKENHI-PROJECT-24591086, KAKENHI-PROJECT-25253016, KAKENHI-PROJECT-25460406, KAKENHI-PROJECT-25860163, KAKENHI-PROJECT-25713034
  • [Journal Article] 骨格筋チャネル病の最新知見 ― ミオトニー症候群と周期性四肢麻痺を中心に2013

    • Author(s)
      久保田智哉 高橋正紀
    • Journal Title

      医学のあゆみ

      Volume: 印刷中

    • Data Source
      KAKENHI-PROJECT-23591245
  • [Journal Article] Manumycin A corrects aberrant splicing of Clcn1 in myotonic dystrophy type 1 (DM1) mice2013

    • Author(s)
      Kosuke Oana, Yoko Oma, Satoshi Suo, Masanori P. Takahashi, Ichizo Nishino, Shin'ichi Takeda, Shoichi Ishiura
    • Journal Title

      Scientific Reports

      Volume: VOL.3 Issue: 1 Pages: 2142-2142

    • DOI

      10.1038/srep02142

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-13J08474, KAKENHI-PROJECT-23591245, KAKENHI-PROJECT-25860844
  • [Journal Article] 骨格筋型塩化物イオンチャネル遺伝子(CLCN1)の複合ヘテロ接合体変異で重症化したThomsen病2013

    • Author(s)
      佐々木良元、高橋正紀、穀内洋介、平山正昭、衣斐 達、冨本秀和、望月秀樹、佐橋 功
    • Journal Title

      臨床神経学

      Volume: 53 Pages: 316-319

    • NAID

      40019663429

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591245
  • [Journal Article] 核スプライシング障害とトリプレットリピート病2013

    • Author(s)
      中森雅之 高橋正紀
    • Journal Title

      脳21

      Volume: 16

    • Data Source
      KAKENHI-PROJECT-23591245
  • [Journal Article] Myotonic dystrophy―from pathomechanism as a RNA disease to future clinical trials2012

    • Author(s)
      高橋正紀
    • Journal Title

      Rinsho Shinkeigaku

      Volume: 52 Issue: 11 Pages: 1393-1396

    • DOI

      10.5692/clinicalneurol.52.1393

    • NAID

      130004921040

    • ISSN
      0009-918X, 1882-0654
    • Language
      Japanese
    • Data Source
      KAKENHI-PROJECT-23591245
  • [Journal Article] Muscleblind-like 2 mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophy.2012

    • Author(s)
      Charizanis K, Lee K-Y, Batra R, 中略 Kimura T, Takahashi MP, Fujimura H, Jinnai K, Yoshikawa H, Gomes-Pereira M, Gourdon G, Sakai N, Nishino S, Ares Jr M, Darnell RB, Swanson M.
    • Journal Title

      Neuron

      Volume: 75 Issue: 3 Pages: 467-450

    • DOI

      10.1016/j.neuron.2012.05.029

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591245, KAKENHI-PROJECT-23591258
  • [Journal Article] A novel mutation in SCN4A causes severe myotonia and school-age-onset paralytic episodes2012

    • Author(s)
      Yoshinaga Y. Sakoda S-I, Good JM, Takahashi MP, Kubota T, Arikawa-Hirasawa E, Nakata T, Ohno K, Kitamura T, Kobayashi K, Ohtsuka Y
    • Journal Title

      J Neurol Sci

      Volume: 315(1-2) Issue: 1-2 Pages: 15-9

    • DOI

      10.1016/j.jns.2011.12.015

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591245, KAKENHI-PROJECT-24390221
  • [Journal Article] Muscleblind-like 1 Knockout Mice Reveal Novel Splicing Defects in the Myotonic Dystrophy Brain2012

    • Author(s)
      Suenaga K, Lee KY, Nakamori M, Tatsumi Y, Takahashi MP, Fujimura H, Jinnai K, Yoshikawa H, Du H, Ares M Jr, Swanson MS, Kimura T
    • Journal Title

      PLoS One

      Volume: 7(3) Issue: 3 Pages: e33218-e33218

    • DOI

      10.1371/journal.pone.0033218

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591245, KAKENHI-PROJECT-23591258
  • [Journal Article] A sodium channel myotonia due to a novel SCN4A mutation accompanied by acquired autoimmune myasthenia gravis.2012

    • Author(s)
      Kokunai Y, Goto K, Kubota T, Fukuoka T, Sakoda S, Ibi T, Doyu M, Mochizuki H, Sahashi K, Takahashi MP.
    • Journal Title

      Neurosci Lett.

      Volume: 519 Issue: 1 Pages: 67-72

    • DOI

      10.1016/j.neulet.2012.05.023

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591245
  • [Journal Article] The role of dystrobrevin in striated muscle.2011

    • Author(s)
      Nakamori M, Takahashi MP.
    • Journal Title

      Int. J.Molecular Sciences 12(3)

      Pages: 1660-1671

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20590998
  • [Journal Article] A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia2011

    • Author(s)
      Kubota T, Roca X, Kimura T, …………, Sakoda S, Takahashi MP
    • Journal Title

      Human Mutation

      Volume: 41,(印刷中)

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20590998
  • [Journal Article] A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia2011

    • Author(s)
      KubotaT, Roca X, Kimura T, Kokunai Y, Nishino I, Sakoda S, Krainer AR, and Takahashi MP
    • Journal Title

      Human Mutation

      Volume: 32(7) Issue: 7 Pages: 773-82

    • DOI

      10.1002/humu.21501

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591245
  • [Journal Article] A novel mutation in the calcium channel gene in a family with hypokalemic periodic paralysis2011

    • Author(s)
      Hirano, M., Kokunai, Y., Nagai, A., Nakamura, Y., Saigoh, K., Kusunoki, S. and Takahashi, M. P
    • Journal Title

      J. Neurol. Sci

      Volume: 309 Issue: 1-2 Pages: 9-11

    • DOI

      10.1016/j.jns.2011.07.046

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-21591097, KAKENHI-PROJECT-23591245
  • [Journal Article] Misregulation of miR-1 processing is associated with heart defects in myotonic dystrophy2011

    • Author(s)
      Rau F, Freyermuth F, Fugier C, Villemin JP, Fischer MC, Jost B, Dembele D, Gourdon G, Nicole A, Duboc D, Wahbi K, Day JW, Fujimura H, Takahashi MP, Auboeuf D, Dreumont N, Furling D, Charlet-Berguerand N
    • Journal Title

      Nat Struct Mol Biol

      Volume: 18(7) Issue: 7 Pages: 840-5

    • DOI

      10.1038/nsmb.2067

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591245
  • [Journal Article] 筋強直性ジストロフィー─異常RNAによる病態機序と新たな治療法の探索2011

    • Author(s)
      中森雅之、高橋正紀
    • Journal Title

      BRAIN and NERVE

      Volume: 63 Pages: 1161-68

    • Data Source
      KAKENHI-PROJECT-23591245
  • [Journal Article] The role of dystrobrevin in striated muscle.2011

    • Author(s)
      Nakamori M, Takahashi MP
    • Journal Title

      International Journal of Molecular Sciences

      Volume: 12 Pages: 1660-1671

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20590998
  • [Journal Article] Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy2011

    • Author(s)
      Fugier C, Klein AF, Hammer C, Vassilopoulos S, Ivarsson Y, Toussaint A, Tosch V, Vignaud A, Ferry A, Messaddeq N, Kokunai Y, Tsuburaya R, de la Grange P, Dembele D, Francois V, Precigout G, Boulade-Ladame C, Hummel MC, de Munain AL, Sergeant N, Laquerrière A, Thibault C, Deryckere F, Auboeuf D, Garcia L, Zimmermann P, Udd B, Schoser B, Takahashi MP, Nishino I, Bassez G, Laporte J, Furling D, Charlet-Berguerand N
    • Journal Title

      Nature Medicine

      Volume: 17(6) Issue: 6 Pages: 720-5

    • DOI

      10.1038/nm.2374

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23591245
  • [Journal Article] New mutation of the Na channel in severe form of potassium-aggravated myotonia.2009

    • Author(s)
      Kubota T, Kinoshita M, Sasaki R, Aoike F, Takahashi MP, Sakoda S, Hirose K.
    • Journal Title

      Muscle Nerve 39(5)

      Pages: 666-73

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20590998
  • [Journal Article] Recent progress in pathophysiology of myotonic dystrophy2008

    • Author(s)
      Takahashi, ME, Sakoda, S
    • Journal Title

      In : Annual Review Neurology 2008

      Pages: 297-306

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18590938
  • [Journal Article] Aberrantly spliced alpha-dystrobrevin alters alpha-syntrophin binding in myotonic dystrophy type 12008

    • Author(s)
      Nakamori, M, Kimura, T, Kubota, T, Matsumura, T, Sumi, H, Fujimura, H, Takahashi, MP, Sakoda, S
    • Journal Title

      Neurology 70

      Pages: 677-85

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18590938
  • [Journal Article] Altered mRNA splicing of dystrophin in type 1 myotonic dystrophy2007

    • Author(s)
      Nakamori, M, Kimura, T, Fujimura, H, Takahashi, MP, Sakoda, S
    • Journal Title

      Muscle & Nerve 36

      Pages: 251-7

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18590938
  • [Journal Article] Endoplasmic reticulum stress in myotonic dystrophy type 1 muscle2007

    • Author(s)
      Ikezoe, K, Nakamori, M, Furuya, H, Arahata, H, Kanemoto, S, Kimura, T, Imaizumi, K, Takahashi, MP, Sakoda, S, Fujii, N, Kira, J-I
    • Journal Title

      Acta Neuropathologica 114

      Pages: 527-35

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18590938
  • [Journal Article] Molecular mechanisms responsible for aberrant splicing of SERCAI in myotonic dystrophy type 12007

    • Author(s)
      Hino, SI, Kondo, S, Sekiya, H, Saito, A, Kanemoto, S, Murakami, T, Chihara, K, Aoki, Y, Nakamori, M, Takahashi, MP, Imaizumi, K
    • Journal Title

      Hum Mol Genet 16

      Pages: 2834-43

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18590938
  • [Journal Article] Class Ic antiarrhythmics block human skeletal muscle Na channel during myotonia-like stimulation.2005

    • Author(s)
      Aoike F, Takahashi MP, Sakoda S
    • Journal Title

      European Journal of Pharmacology 532・1-2

      Pages: 24-31

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16590825
  • [Journal Article] Class Ic antiarrhythmics block human skeletal muscle Na channel during myotonia-like stimulation.2005

    • Author(s)
      Aoike F, Takahashi MP, Sakoda S
    • Journal Title

      European Journal of Pharmacology 532.1-2

      Pages: 24-31

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16590825
  • [Journal Article] Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca^<2+>-ATPase in myotonic dystrophy type 1.2005

    • Author(s)
      Kimura T, Nakamori M, Lueck JD, Pouliquin P, Aoike F, Fujimura H, Dirksen RT, Takahashi MP, Dulhunty AF, Sakoda S
    • Journal Title

      Human Molecular Genetics 14・15

      Pages: 2189-2200

    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-16590825
  • [Journal Article] Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca^<2+>-ATPase in myotonic dystrophy type 1.2005

    • Author(s)
      Kimura T, Nakamori M, Lueck JD, Pouliquin P, Aoike F, Fujimura H, Dirksen RT, Takahashi MP, Dulhunty AF, Sakoda S.
    • Journal Title

      Human Molecular Genetics 14.15

      Pages: 2189-2200

    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-16590825
  • [Journal Article] A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia.

    • Author(s)
      Kubota T, Roca X, Kimura T, Kokunai Y, Nishino I, Sakoda S, Krainer AR, Takahashi MP.
    • Journal Title

      Human Mutation in press

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-20590998
  • [Presentation] OPTICAL MEASUREMENT OF GATING PORE CURRENTS IN HYPOKALEMIC PERIODIC PARALYSIS MODEL CELLS.2023

    • Author(s)
      Tomoya Kubota, Satoe Takahashi, Risa Yamamoto, Ruka Sato, Aya Miyanooto, Reina Yamamoto, Kosuke Yamauchi, Kazuaki Homma, Masanori P. Takahashi
    • Organizer
      67th Annual Meeting of the Biophysical Society
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-22K07493
  • [Presentation] チャネル機能に基づくチャネル病診断パイプラインの構築2023

    • Author(s)
      久保田智哉、高橋正紀
    • Organizer
      生理研究会2023
    • Data Source
      KAKENHI-PROJECT-22K07493
  • [Presentation] Optical measurement of gating pore currents in hypokalemic periodic paralysis model cells.2023

    • Author(s)
      Kubota T, Takahashi S, Yamamoto R, Sato R, Miyanooto A, Yamamoto R, Yamauchi K, Homma K, Takahashi MP.
    • Organizer
      Ion channel modulation symposium 2023.
    • Data Source
      KAKENHI-PROJECT-22K07493
  • [Presentation] Cy3-based membrane protein targeting assay for quantitative evaluation of membrane expression efficacy of ion channels2023

    • Author(s)
      Reina Yamamoto, Kosuke Yamauchi, Satoe Takahashi, Aono Fukumoto, Mizuki Yamamoto, Masanori P. Takahashi, Kazuaki Homma, Tomoya Kubota
    • Organizer
      日本生理学会第100回大会
    • Data Source
      KAKENHI-PROJECT-22K07493
  • [Presentation] Generation of in vitro model cells for skeletal muscle channelopathies.2023

    • Author(s)
      Kubota T, Takahashi S, Yamamoto R, Sato R, Miyanooto A, Yamamoto R, Yamauchi K, Homma K, Takahashi MP.
    • Organizer
      第64回日本神経学会学術大会
    • Data Source
      KAKENHI-PROJECT-22K07493
  • [Presentation] 本邦における筋強直性ジストロフィー患者の医療的ケアの実態(全国調査)先天性/小児期発症の回答の検討2021

    • Author(s)
      七字美延、石垣景子、高橋正紀、佐藤孝俊、石黒久美子、小牧宏文、松村剛、永田智
    • Organizer
      第63回日本小児神経学会学術集会
    • Data Source
      KAKENHI-PROJECT-19K07992
  • [Presentation] Liver dysfunction and dyslipidemia in myotonic dystrophy type 1: A cross-sectional study using the National Registry of Japan.2021

    • Author(s)
      Hama M, Horie R, Kubota T, Matsumura T, Kimura E, Nakamura H, Takahashi MP, Takada H
    • Organizer
      26th International Congress of the World Muscle Society
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19K07992
  • [Presentation] 神経筋疾患、新しい治療の時代へ 筋強直性ジストロフィーにおける病態解明の進歩と治療開発2021

    • Author(s)
      高橋正紀
    • Organizer
      第63回日本小児神経学会学術集会
    • Invited
    • Data Source
      KAKENHI-PROJECT-19K07992
  • [Presentation] 「筋強直性ジストロフィー」 病態と疾患管理―脳神経内科・遺伝診療の立場から2021

    • Author(s)
      高橋正紀
    • Organizer
      第7回産科婦人科遺伝診療学会
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19K07992
  • [Presentation] Examination of Neuropsychological Tests to Measure Cognitive Functions in Myotonic Dystrophy Type 1.2021

    • Author(s)
      Haruo Fujino, Yukihiko Ueda, Shugo Suwazono, Tsuyoshi Matsumura, Osamu Imura, Masanori Takahashi
    • Organizer
      The 19th Asian-Oceanian Myology Center Meeting
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19K07992
  • [Presentation] 筋強直性ジストロフィー 最近のトピックス2021

    • Author(s)
      高橋正紀
    • Organizer
      第62回日本神経学会学術大会
    • Invited
    • Data Source
      KAKENHI-PROJECT-19K07992
  • [Presentation] 筋強直性ジストロフィー合併糖尿病に対するDPP-4阻害剤の有効性に関する検証2020

    • Author(s)
      髙田博仁、高橋正紀、松村 剛、松井未紗、岩橋博見
    • Organizer
      第61回日本神経学会学術大会
    • Data Source
      KAKENHI-PROJECT-19K07992
  • [Presentation] Survey of patient care situations for congenital/childhood onset myotonic dystrophy in Japan; Nationwide patient survey.2020

    • Author(s)
      M.Shichiji, Y.Kihara, K.Ishiguro, T.Sato, M.Takahashi, H.Komaki, H.Takada, S.Kuru, T.Matsumura, K.Ishigaki.
    • Organizer
      25th International Congress of the World Muscle Society
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19K07992
  • [Presentation] 筋強直性ジストロフィーに対する呼吸療法の実態調査2020

    • Author(s)
      久留聡、高橋俊明、鈴木幹也、斎藤利雄、松村剛、高橋正紀
    • Organizer
      第61回日本神経学会学術大会
    • Data Source
      KAKENHI-PROJECT-19K07992
  • [Presentation] 患者登録データおよび二次調査における筋強直性ジストロフィー1型患者の代謝障害についての臨床調査2020

    • Author(s)
      濱真奈美、堀江里歩、久保田智哉、松村 剛、髙田博仁、高橋正紀
    • Organizer
      第7回筋ジストロフィー医療研究会
    • Data Source
      KAKENHI-PROJECT-19K07992
  • [Presentation] 筋強直性ジストロフィータイプ1(DM1)における疲労感の問題2020

    • Author(s)
      井村 修、松村 剛、諏訪園秀吾、上田幸彦、藤野陽生、高橋正紀
    • Organizer
      第7回筋ジストロフィー医療研究会
    • Invited
    • Data Source
      KAKENHI-PROJECT-19K07992
  • [Presentation] 本邦における先天性/小児期発症筋強直性ジストロフィー患者の医療ケアの実態調査 ―患者対象全国調査-2020

    • Author(s)
      七字美延、石黒久美子、佐藤孝俊、高橋正紀、 松浦徹、砂田芳秀、小牧宏文、高田博仁、久留聡、松村剛、石垣景子
    • Organizer
      第7回筋ジストロフィー医療研究会
    • Data Source
      KAKENHI-PROJECT-19K07992
  • [Presentation] 筋強直性ジストロフィーにおける耐糖能障害の進展に関する経時的観察2020

    • Author(s)
      髙田博仁、松井未紗、高橋正紀、松村 剛、岩橋博見
    • Organizer
      第7回筋ジストロフィー医療研究会
    • Data Source
      KAKENHI-PROJECT-19K07992
  • [Presentation] 筋強直性ジストロフィーにおける認知機能評価バッテリーの提案2019

    • Author(s)
      藤野陽生、上田幸彦、諏訪園秀吾、松村 剛、高橋正紀、井村 修
    • Organizer
      第6回 筋ジストロフィーの CNS障害研究会
    • Data Source
      KAKENHI-PROJECT-19K07992
  • [Presentation] Registry of myotonic dystrophy in Japan: Current status and genotype-phenotype correlation.2019

    • Author(s)
      Yamauchi K, Horie R, Kubota T, Matsumura T, Kimura E, Nakamura H, Takahashi M.
    • Organizer
      The 12th International Myotonic Dystrophy Consortium Meeting
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19K07992
  • [Presentation] Cardiac conduction disorders as markers of cardiac events but not sudden death in myotonic dystrophy type 1.2019

    • Author(s)
      Itoh h, Hisamatsu T, Tamura T, Segawa K, Takahash T, Takada H, Kuru S, Wada C, Suzuki M, Suwazono S, Sasaki S, Okumura K, Horie M, Takahashi M, Matumura T.
    • Organizer
      The 12th International Myotonic Dystrophy Consortium Meeting
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-19K07992
  • [Presentation] Hypokalemic periodic paralysis cases with substitutions from arginine to lysine in the voltage sensor.2018

    • Author(s)
      Maki Nakaza, Tomoya Kubota, Savine Vicart, Daisuke Watanabe, Norito Kokubun, Mitsuru Furuta, Damien Sternberg, Yosuke Kokunai, Tatsuya Abe, Bertrand Fontaine, Masanori P. Takahashi
    • Organizer
      62nd Annual Meeting, Biophysical Society
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K09314
  • [Presentation] 遺伝性低カリウム性周期性四肢麻痺の発症機序とチャネル内電位感受性ドメインの電荷との関連について2017

    • Author(s)
      久保田智哉、渡辺大祐、國分則人、古田充、穀内洋介、阿部達哉、高橋正紀
    • Organizer
      第3回日本筋学会学術集会
    • Data Source
      KAKENHI-PROJECT-15K09314
  • [Presentation] rginine-to-lysine mutations in the voltage sensor are associated with hypokalemic periodic paralysis2017

    • Author(s)
      Kubota T, Watanabe D, Kokubun N, Furuta M, Kokunai Y, Abe T, Takahashi M.
    • Organizer
      The XXIII World Congress of Neurology
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-15K09314
  • [Presentation] 日本人コホートにおける孤発性周期性四肢麻痺の遺伝的背景2017

    • Author(s)
      高橋正紀 、仲座真希、北村友梨、古田 充、久保田智哉、佐々木良元
    • Organizer
      日本人類遺伝学会 第62回大会
    • Data Source
      KAKENHI-PROJECT-15K09314
  • [Presentation] Naチャネルのスプライシング異常が筋強直性ジストロフィーの心臓伝導障害の原因となる2016

    • Author(s)
      穀内洋介、Fernande Freyermuth 芦原貴司 伊藤英樹、紀嘉浩、中森雅之、木村卓、松村剛、藤村晴俊、望月秀樹、石浦章一、Swanson Maurice、堀江稔、Denis Furling Charlet-Berguerand Nicolas、高橋正紀
    • Organizer
      第2回日本筋学会学術集会
    • Place of Presentation
      東京(国立精神・神経医療研究センター)
    • Data Source
      KAKENHI-PROJECT-15K09314
  • [Presentation] 筋チャネル病‐周期性四肢麻痺および非ジストロフィー性ミオトニー症候群の遺伝子解析と麻痺発作重症度分類2015

    • Author(s)
      高橋正紀、佐々木良元、久保田智哉、穀内洋介、古田充、中森雅之、望月秀樹、冨本秀和、大野欽司
    • Organizer
      第1回日本筋学会学術集会
    • Place of Presentation
      国立精神・神経医療研究センター(小平市、東京)
    • Year and Date
      2015-08-07
    • Data Source
      KAKENHI-PROJECT-15K09314
  • [Presentation] 格筋チャネル病の電気生理学的分類の限界について2015

    • Author(s)
      高橋正紀、佐々木良元、久保田智哉、古田充、中森雅之、加藤秀紀、阿部達哉、國分則人、望月秀樹
    • Organizer
      第45回日本臨床神経生理学会学術大会
    • Place of Presentation
      大阪国際会議場(大阪市)
    • Year and Date
      2015-11-06
    • Data Source
      KAKENHI-PROJECT-15K09314
  • [Presentation] Modeling genetic instability of the CTG repeats in Myotonic Dystrophy type 1 (DM1) patient-derived iPS cell2015

    • Author(s)
      Junko UEKI, Masayuki NAKAMORI, Masanori TAKAHASHI, Hidetoshi SAKURAI
    • Organizer
      The 10th International Myotonic Dystrophy Consortium Meeting
    • Place of Presentation
      PARIS, FRANCE
    • Year and Date
      2015-06-08
    • Int'l Joint Research
    • Data Source
      KAKENHI-PROJECT-26430053
  • [Presentation] 著明な脳波異常を伴う反復発作性運動失調症2型(EA2)の一家系2015

    • Author(s)
      階堂三砂子、古田 充、中森雅之、湯浅義人、高橋正紀
    • Organizer
      日本神経学会第102回近畿地方会
    • Place of Presentation
      大阪国際会議場(大阪市)
    • Year and Date
      2015-07-04
    • Data Source
      KAKENHI-PROJECT-15K09314
  • [Presentation] Phenotype-genotype correlation in congenital myotonic dystrophy.2013

    • Author(s)
      Nakamori M, Hamanaka K, Furuta M, Mochizuki H, Hayashi Y, Nishino I, Takahashi MP.
    • Organizer
      9th International Myotonic Dystrophy Consortium Meeting
    • Place of Presentation
      Donostia San Sebastian, Spain
    • Data Source
      KAKENHI-PROJECT-23591245
  • [Presentation] トリプレットリピート病におけるリピート長の制御.2013

    • Author(s)
      中森 雅之、Charles Thornton、高橋 正紀、望月 秀樹
    • Organizer
      第54回日本神経学会学術大会
    • Place of Presentation
      東京国際フォーラム 東京
    • Data Source
      KAKENHI-PROJECT-23591245
  • [Presentation] トリプレットリピート病におけるリピート長伸長機構の解明と制御2013

    • Author(s)
      中森 雅之、Charles Thornton、高橋 正紀、望月 秀樹
    • Organizer
      日本人類遺伝学会 第58回大会
    • Place of Presentation
      仙台 宮城
    • Data Source
      KAKENHI-PROJECT-23591245
  • [Presentation] Naチャネルのスプライシング異常が筋強直性ジストロフィーの心臓伝導障害に関与する.2013

    • Author(s)
      穀内洋介、紀 嘉浩、Moy Li、伊藤 英樹、中森 雅之、木村 卓、松村 剛、藤村 晴俊、貫名 信行、堀江 稔、石浦 章一、Maurice Swanson、望月 秀樹、佐古田 三郎、井本 敬二、Nicolas Charlet-Berguerand、高橋 正紀
    • Organizer
      第54回日本神経学会学術大会
    • Place of Presentation
      東京国際フォーラム 東京
    • Data Source
      KAKENHI-PROJECT-23591245
  • [Presentation] The distribution of splicing defects in the myotonic dystrophy type 1 brain.2013

    • Author(s)
      Takashi Kimura, Koichi Suenaga, Masayuki Nakamori, Tsuyoshi Matsumura, Masanori Takahashi, Harutoshi Fujimura, Kenji Jinnai, Hiroo Yoshikawa.
    • Organizer
      9th International Myotonic Dystrophy Consortium Meeting
    • Place of Presentation
      Donostia San Sebastian, Spain
    • Data Source
      KAKENHI-PROJECT-23591245
  • [Presentation] Altered splicing of cardiac sodium channel might be responsible for cardiac conduction defects in myotonic dystrophy.2013

    • Author(s)
      Kokunai Y, Itoh H, Kino Y, Li M, Nakamori M, Kimura T, Matsumura T, Fujimura H, Nukina N, Mochizuki H, Sakoda S, Horie M, Ishiura S, Imoto K, Swanson MS, Charlet Berguerand N, Takahashi MP.
    • Organizer
      9th International Myotonic Dystrophy Consortium Meeting
    • Place of Presentation
      Donostia San Sebastian, Spain
    • Data Source
      KAKENHI-PROJECT-23591245
  • [Presentation] Exome sequencing analysis reveals a mutation of Kir3.4 in a patient with Andersen–Tawil syndrome.2013

    • Author(s)
      Kokunai Y, Nakamori M, Kubota T, Mochizuki H, Takahashi MP, Nakata T, Ohno K, Sakata S, Okamura Y, Kimura H, Itoh H, Horie M, Osaki Y, Shindo K.
    • Organizer
      18th International Congress of The World Muscle Society
    • Place of Presentation
      Asilomar, CA USA
    • Data Source
      KAKENHI-PROJECT-23591245
  • [Presentation] Altered splicing of cardiac sodium channel might be responsible for cardiac conduction defects in myotonic dystrophy2013

    • Author(s)
      Kokunai Y, Itoh H, Kino Y, Li M, Nakamori M, Kimura T, Matsumura T, Fujimura H, Nukina N, Mochizuki H, Sakoda S, Horie M, Ishiura S, Imoto K, Swanson MS, Charlet Berguerand N, Takahashi MP
    • Organizer
      9th International Myotonic Dystrophy Consortium Meeting
    • Place of Presentation
      Donostia San Sebastian, Spain
    • Year and Date
      2013-10-17
    • Data Source
      KAKENHI-PROJECT-23591245
  • [Presentation] 筋強直性ジストロフィー症における中枢神経スプライシング異常の局在性の検討.2013

    • Author(s)
      末永 浩一、木村 卓、中森 雅之、高橋 正紀、松村 剛、藤村 晴俊、陣内 研二、芳川 浩男
    • Organizer
      第54回日本神経学会学術大会
    • Place of Presentation
      東京国際フォーラム 東京
    • Data Source
      KAKENHI-PROJECT-23591245
  • [Presentation] 不整脈を伴う低カリウム性周期性四肢麻痺の新規原因遺伝子同定とチャネル機能解析.2013

    • Author(s)
      高橋 正紀、穀内 洋介、中田 智彦、坂田 宗平、大崎 裕亮、中森 雅之、木村 紘美、伊藤 英樹、久保田 智哉、進藤 克郎、望月 秀樹、堀江 稔、岡村 康司、大野 欽司
    • Organizer
      第54回日本神経学会学術大会
    • Place of Presentation
      東京国際フォーラム 東京
    • Data Source
      KAKENHI-PROJECT-23591245
  • [Presentation] エクソーム解析によるAndersen-Tawil 症候群の新規原因遺伝子同定と変異チャネル機能の電気生理学的解析2013

    • Author(s)
      高橋 正紀、穀内 洋介、中田 智彦、坂田 宗平、中森 雅之、木村 紘美、伊藤 英樹、古田 充、久保田 智哉、進藤 克郎、堀江 稔、岡村 康司、望月 秀樹、大野 欽司
    • Organizer
      日本人類遺伝学会 第58回大会
    • Place of Presentation
      仙台 宮城
    • Data Source
      KAKENHI-PROJECT-23591245
  • [Presentation] Myotonic Dystrophy Overview and the pathomechanism as an mRNA disease.2012

    • Author(s)
      Takahashi MP
    • Organizer
      第53回日本神経学会学術大会
    • Place of Presentation
      東京
    • Invited
    • Data Source
      KAKENHI-PROJECT-23591245
  • [Presentation] RNA mis-splicing in myotonic disorders2012

    • Author(s)
      Takahashi MP
    • Organizer
      The 9th Japanese-French Symposium for'muscular dystrophy'
    • Place of Presentation
      東京
    • Year and Date
      2012-09-07
    • Data Source
      KAKENHI-PROJECT-23591245
  • [Presentation] 電気生理学的検討が診断に有用であったP480T変異を認めたThomsen病の一例2012

    • Author(s)
      加藤秀紀、伊藤鮎子、宅間裕子、佐藤豊大、湯浅浩之、三竹重久、高橋正紀
    • Organizer
      第132回日本神経学会東海北陸地方会
    • Place of Presentation
      名古屋国際会議場(名古屋)
    • Data Source
      KAKENHI-PROJECT-23591245
  • [Presentation] Symposium - Frontiers of Neurogenetics and Neuroscience Myotonic dystrophy and RNA story. Myotonic Dystrophy Overview and the pathomechanism as an mRNA disease2012

    • Author(s)
      Takahashi MP
    • Organizer
      第53回日本神経学会学術大会
    • Place of Presentation
      東京(東京国際フォーラム)
    • Year and Date
      2012-05-23
    • Data Source
      KAKENHI-PROJECT-23591245
  • [Presentation] 筋強直性ジストロフィー症における中枢神経スプライシング異常およびその分子機序の解明2012

    • Author(s)
      末永 浩一, 木村 卓, Kuang-Yung Lee, 中森 雅之, 高橋 正紀, 藤村 晴俊, 陣内 研二, 久保 秀司, 玉置(橋本) 知子, Manuel Ares, Maurice Swanson, 芳川 浩男
    • Organizer
      第53回日本神経学会学術大会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-23591245
  • [Presentation] 骨格筋型塩化物イオンチャネル遺伝子(CLCN1)の複合ヘテロ接合体変異で重症化したトムゼン病2012

    • Author(s)
      佐々木良元,高橋正紀,穀内洋介,平山正昭,衣斐 達,佐橋 功,冨本秀和
    • Organizer
      第53回日本神経学会学術大会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-23591245
  • [Presentation] Impact of unstable microsatellites on brain development, function and disease.2012

    • Author(s)
      Charizanis K, Lee K-Y, 中略 Kimura T, Takahashi MP, Fujimura H, Jinnai K, Yoshikawa H, Gomes-Pereira M, Gourdon G, Sakai N, Nishino S, Foster TC, Ares Jr M, Darnell RB and Swanson,MS.
    • Organizer
      7th International Conference on Unstable Microsatellites & Human Disease
    • Place of Presentation
      フランス ストラスブール
    • Data Source
      KAKENHI-PROJECT-23591245
  • [Presentation] RNA mis-splicing in myotonic disorders.2012

    • Author(s)
      Takahashi MP
    • Organizer
      The 9th Japanese-French Symposium for ‘muscular dystrophy’
    • Place of Presentation
      東京
    • Invited
    • Data Source
      KAKENHI-PROJECT-23591245
  • [Presentation] SCN5A splicing alteration in heart of myotonic dystrophy patients.2012

    • Author(s)
      Freyermuth F, Thibault C, Alunni V, Auboeuf D, Zimmer T, Takahashi M, Charlet-Berguerand N.
    • Organizer
      7th International Conference on Unstable Microsatellites & Human Disease
    • Place of Presentation
      フランス ストラスブール
    • Data Source
      KAKENHI-PROJECT-23591245
  • [Presentation] 筋強直性ジストロフィーにおける心筋型Naチャネルのスプライシング異常と心伝導障害2012

    • Author(s)
      穀内 洋介, 紀 嘉浩, Li Moyi, 伊藤 英樹, 中森 雅之, 木村 卓, 松村 剛, 藤村 晴俊, 貫名 信行, 堀江 稔, 井本 敬二, 石浦 章一, Maurice Swanson, 佐古田 三郎, 高橋 正紀, 望月 秀樹
    • Organizer
      第53回日本神経学会学術大会
    • Place of Presentation
      東京
    • Data Source
      KAKENHI-PROJECT-23591245
  • [Presentation] 家族性低カリウム性周期性四肢麻痺2型の1例2012

    • Author(s)
      高谷将悟,森田ゆかり,大崎康史,土居義典,瀬尾宏美,穀内洋介,高橋正紀
    • Organizer
      第106回日本内科学会四国地方会
    • Place of Presentation
      出雲市
    • Data Source
      KAKENHI-PROJECT-23591245
  • [Presentation] 筋強直性ジストロフィー症における中枢神経スプライシング異常およびその分子機序の解明2011

    • Author(s)
      末永浩一 木村卓 Kuang-yung Lee 中森雅之 高橋正紀 松村剛 藤村晴俊 陣内研二 久保秀司 玉置(橋本)知子 ManuelAres Jr Maurice Swanson 芳川浩男
    • Organizer
      第52回日本神経学会学術大会
    • Place of Presentation
      名古屋国際会議場(名古屋)
    • Data Source
      KAKENHI-PROJECT-23591245
  • [Presentation] ミオトニー症候群における反復刺激時の漸減現象のメカニズムについて―シミュレーションによる検討2011

    • Author(s)
      穀内洋介、久保田智哉、高橋正紀
    • Organizer
      第41回日本臨床神経生理学会・学術大会
    • Place of Presentation
      静岡県コンベンションアーツセンター(静岡)
    • Data Source
      KAKENHI-PROJECT-23591245
  • [Presentation] 筋強直性ジストロフィー心筋におけるNaチャネルのスプライシング異常2011

    • Author(s)
      穀内洋介 中森雅之 木村卓 松村剛 藤村晴俊 佐古田三郎 高橋正紀
    • Organizer
      第52回日本神経学会学術大会
    • Place of Presentation
      名古屋国際会議場(名古屋)
    • Data Source
      KAKENHI-PROJECT-23591245
  • [Presentation] Altered splicing of cardiac sodium channel in heart muscles of myotonic dystrophy type 12011

    • Author(s)
      Kokunai Y, Kino Y, Li M, Nakamori M, Itoh H, Kimura T, Matsumura T, Fujimura H, Horie M, Imoto K, Ishiura S, Swanson MS, Nukina N, Sakoda S and Takahashi MP
    • Organizer
      8th International Myotonic Dystrophy Consortium Meeting
    • Place of Presentation
      米国 フロリダ
    • Data Source
      KAKENHI-PROJECT-23591245
  • [Presentation] Naチャネル異常症におけるexercise testの再評価2011

    • Author(s)
      高橋正紀、久保田智哉、穀内洋介、笠間周平、桐山敬生、佐々木良元、木下正信、後藤啓五、佐橋功
    • Organizer
      第41回日本臨床神経生理学会・学術大会
    • Place of Presentation
      静岡県コンベンションアーツセンター(静岡)
    • Data Source
      KAKENHI-PROJECT-23591245
  • [Presentation] Muscleblind-like 2 knockout mice: a model for splicing alterations and neurological changes in the DM brain.2011

    • Author(s)
      K Charizanis, K-Y Lee, MM Scotti1, G Xia, L Shiue, MS Cline, M Ares Jr, T Kimura, MP Takahashi, H Fujimura, K Jinnai, H Yoshikawa, MS Swanson
    • Organizer
      8th International Myotonic Dystrophy Consortium Meeting
    • Place of Presentation
      米国 フロリダ
    • Data Source
      KAKENHI-PROJECT-23591245
  • [Presentation] 重症筋無力症(AChR-MG)を合併したNaチャネルミオトニーの新規変異チャネルの機能解析2011

    • Author(s)
      穀内洋介 後藤啓五 久保田智哉 福岡敬晃 佐古田三郎 衣斐達 道勇学 佐橋功 高橋正紀
    • Organizer
      第52回日本神経学会学術大会
    • Place of Presentation
      名古屋国際会議場(名古屋)
    • Data Source
      KAKENHI-PROJECT-23591245
  • [Presentation] Muscleblind-like 1 knockout mice reveal novel splicing defects in the myotonic dystrophy brain2011

    • Author(s)
      T Kimura, K-Y Lee, K Suenaga, M Nakamori, Y Tatsumi, MP Takahashi, H Fujimura, K Jinnai, H Yoshikawa, H Du, M Ares, Jr., MS Swanson
    • Organizer
      8th International Myotonic Dystrophy Consortium Meeting
    • Place of Presentation
      米国 フロリダ
    • Data Source
      KAKENHI-PROJECT-23591245
  • [Presentation] A myotonia caused by aberrant splicing of voltage-gated sodium channel due to an intronic mutation of SCN4A2010

    • Author(s)
      Takahashi MP, ほか
    • Organizer
      The 15th International Congress of the World Muscle Society
    • Place of Presentation
      熊本市
    • Year and Date
      2010-10-13
    • Data Source
      KAKENHI-PROJECT-20590998
  • [Presentation] 骨格筋型電位依存性Naチャネル(NaV1.4)のスプライシング異常によるミオトニー2010

    • Author(s)
      久保田智哉, 高橋正紀, 木村卓, 穀内洋介, 佐古田三郎
    • Organizer
      第51回日本神経学会総会
    • Place of Presentation
      東京
    • Year and Date
      2010-05-21
    • Data Source
      KAKENHI-PROJECT-20590998
  • [Presentation] An intronic mutation of SCN4A-associatedwithmyotonia raises an aberrantly spliced isoform with disrupted fast inactivation.2010

    • Author(s)
      久保田智哉, 高橋正紀, 木村卓, 佐古田三郎
    • Organizer
      Biophysical Society 54th Annual Meeting
    • Place of Presentation
      San Francisco CA USA
    • Year and Date
      2010-02-22
    • Data Source
      KAKENHI-PROJECT-20590998
  • [Presentation] A myotonia caused byaberrant splicing ofvoltage-gated sodium channel due to an intronic mutation ofSCN4A.2010

    • Author(s)
      Takahashi MP, Kubota T, Kokunai Y, Kimura T, Sakoda S.
    • Organizer
      15th International Congress of the World Muscle Society
    • Place of Presentation
      Kumamoto Japan
    • Year and Date
      2010-10-13
    • Data Source
      KAKENHI-PROJECT-20590998
  • [Presentation] イオンチャネル遺伝子異常による骨格筋疾患-周期性四肢麻痺・ミオトニー症候群の診断と病態生理(シンポジウム 遺伝子異常と臨床神経生理)2009

    • Author(s)
      高橋正紀
    • Organizer
      第39回日本臨床神経生理学会学術大会
    • Place of Presentation
      北九州国際会議場(福岡県)
    • Year and Date
      2009-11-20
    • Data Source
      KAKENHI-PROJECT-20590998
  • [Presentation] コンピューターシミュレーションによる筋細胞膜興奮性の検討2009

    • Author(s)
      久保田智哉、高橋正紀、佐古田三郎
    • Organizer
      第50回日本神経学会総会
    • Place of Presentation
      仙台
    • Year and Date
      2009-05-20
    • Data Source
      KAKENHI-PROJECT-20590998
  • [Presentation] 筋強直性ジストロフィーモデルマウスにおけるSKチャネル発現とスプライシングの検討2009

    • Author(s)
      穀内洋介、久保田智哉、中森雅之、木村卓、高橋正紀、佐古田三郎
    • Organizer
      第50回日本神経学会総会
    • Place of Presentation
      仙台
    • Year and Date
      2009-05-20
    • Data Source
      KAKENHI-PROJECT-20590998
  • [Presentation] Myotonic discharge発生におけるT管の役割;コンピューターシミュレーションによる検討2009

    • Author(s)
      久保田智哉、高橋正紀、佐古田三郎
    • Organizer
      第39回日本臨床神経生理学会学術大会
    • Place of Presentation
      北九州国際会議場(福岡県)
    • Year and Date
      2009-11-20
    • Data Source
      KAKENHI-PROJECT-20590998
  • [Presentation] イオンチャネル遺伝子異常による骨格筋疾患-周期性四肢麻痺・ミオトニー症候群の診断と病態生理シンポジウム遺伝子異常と臨床神経生理2009

    • Author(s)
      高橋正紀
    • Organizer
      第39回日本臨床神経生理学会学術大会
    • Place of Presentation
      北九州
    • Year and Date
      2009-11-20
    • Data Source
      KAKENHI-PROJECT-20590998
  • [Presentation] コンピューターシミュレーションによる筋細胞膜興奮性の検討2009

    • Author(s)
      久保田智哉、高橋正紀、佐古田三郎
    • Organizer
      第50回日本神経学会総会
    • Place of Presentation
      仙台国際センター(宮城県)
    • Year and Date
      2009-05-20
    • Data Source
      KAKENHI-PROJECT-20590998
  • [Presentation] Myotonic discharge発生におけるT管の役割;コンピューターシミュレーションによる検討2009

    • Author(s)
      久保田智哉、高橋正紀、佐古田三郎
    • Organizer
      第39回日本臨床神経生理学会学術大会
    • Place of Presentation
      北九州
    • Year and Date
      2009-11-20
    • Data Source
      KAKENHI-PROJECT-20590998
  • [Presentation] 筋強直性ジストロフィー症におけるα-dystrobrevinスプライシング異常2008

    • Author(s)
      高橋正紀, 中森雅之, 木村卓, 久保田智哉, 松村剛, 隅寿恵, 藤村晴俊, 佐古田三郎
    • Organizer
      第49回日本神経学会総会
    • Place of Presentation
      横浜
    • Year and Date
      2008-05-16
    • Data Source
      KAKENHI-PROJECT-20590998
  • [Presentation] A New Mutation of Na channel in potassium-aggravated myotonia with cyanotic attacks.2008

    • Author(s)
      Kubota T, Kinoshita M, Sasaki R, Takahashi MP, Sakoda S, Hirose K
    • Organizer
      The 60th Annual Meeting of the American Academy of Neurology.
    • Place of Presentation
      Chicago, IL USA
    • Year and Date
      2008-04-17
    • Data Source
      KAKENHI-PROJECT-20590998
  • [Presentation] Schwartz-Jampel症候群と考えられていたmyotonia permanensについて;新規NaV1.4変異チャネルP1158Lの機能解析2008

    • Author(s)
      久保田智哉、迫田俊一、平澤恵理、杉江和馬、高橋正紀、樋口逸郎、有村由美子、有村公良、佐古田三郎
    • Organizer
      第49回日本神経学会総会
    • Place of Presentation
      横浜
    • Year and Date
      2008-05-15
    • Data Source
      KAKENHI-PROJECT-20590998
  • [Presentation] ミオトニアを呈する変異NaV1.4チャネル機能異常と臨床症状-コンピューターシュミレーションによる検討2008

    • Author(s)
      久保田智哉、高橋正紀、迫田俊一、木下正信、佐古田三郎
    • Organizer
      第38回日本臨床神経生理学会学術大会
    • Place of Presentation
      神戸
    • Year and Date
      2008-11-13
    • Data Source
      KAKENHI-PROJECT-20590998
  • [Presentation] 筋強直性ジストロフィー症骨格筋におけるスプライシング異常のひろがり2007

    • Author(s)
      高橋正紀, ほか
    • Organizer
      第48回日本神経学会総会
    • Place of Presentation
      名古屋
    • Year and Date
      2007-05-17
    • Description
      「研究成果報告書概要(和文)」より
    • Data Source
      KAKENHI-PROJECT-18590938
  • [Presentation] Screening of abnormal splicing in skeletal muscle of myotonic dystrophy2007

    • Author(s)
      Takahashi, M, et. al.
    • Organizer
      The 48th Annual Meeting of the Japanese Society of Neurology
    • Place of Presentation
      Nagoya
    • Year and Date
      2007-05-17
    • Description
      「研究成果報告書概要(欧文)」より
    • Data Source
      KAKENHI-PROJECT-18590938
  • []

  • 1.  SAKODA Saburo (00178625)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 4 results
  • 2.  SAKURAI Hidetoshi (80528745)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 3.  NAKAMORI Masayuki (60630233)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 4.  WATANABE Akira (60506765)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 5.  KATO Kazuto (10202011)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 6.  YOSHIZAWA Go (10526677)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 7.  MINARI Jusaku (60635332)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 8.  ASANO Yoshihiro (60527670)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 9.  MATSUMURA Yasushi (90252642)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 10.  TAKEDA Toshihiro (70506493)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 11.  KIMURA En (60433025)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 12.  TASHIRO Shimon (50548550)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 13.  久保田 智哉 (20573231)
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 8 results
  • 14.  UEKI Junko
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 1 results
  • 15.  Jonouchi Tatsuya
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 16.  小仲 邦
    # of Collaborated Projects: 1 results
    # of Collaborated Products: 0 results
  • 17.  平野 牧人
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results
  • 18.  稲垣 暢也
    # of Collaborated Projects: 0 results
    # of Collaborated Products: 1 results

URL: 

Are you sure that you want to link your ORCID iD to your KAKEN Researcher profile?
* This action can be performed only by the researcher himself/herself who is listed on the KAKEN Researcher’s page. Are you sure that this KAKEN Researcher’s page is your page?

この研究者とORCID iDの連携を行いますか?
※ この処理は、研究者本人だけが実行できます。

Information User Guide FAQ News Terms of Use Attribution of KAKENHI

Powered by NII kakenhi