Takahashi Masanori 高橋正紀

… Alternative Names

高橋正紀タカハシマサノリ

TAKAHASHI Masanori 高橋正紀

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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

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

[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

Takahashi Masanori 高橋 正紀

高橋 正紀 タカハシ マサノリ

TAKAHASHI Masanori 高橋 正紀

Research Projects

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Co-Researchers

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

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Review Section

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Multidimensional Analyses of the Central Nervous System Pathophysiology of Repeat Expansion Disease: Focusing on Myotonic DystrophyPrincipal Investigator

Principal Investigator

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Review Section

Research Institution

Genetic and pathophysiological analysis of periodic paralysesPrincipal Investigator

Principal Investigator

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Development of medical research governance for 21st century by continuous communication with patients

Principal Investigator

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Myotonic dystrophy type 1 patient-derived iPSCs for the investigation of CTG repeat instability

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Role of abnormal RNA for the pathophysiology of hereditary muscle diseasesPrincipal Investigator

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Investigation of the pathomechanism of myotonic syndromes-Na channel disorders of skeletal muscle and myotonic dystrophyPrincipal Investigator

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STUDY OF THE PATHOPHYSIOLOGY OF MYOTOIC DYSTROPHY TOWARD THE FUTURE THERAPY FROM THE UNDERSPAND]NG OF MUSCLE WASTING MECHANISMPrincipal Investigator

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INVESTIGATION OF PATHOMECHANISM AND TREATMENT OF MYOTONIC DYSTROPHYPrincipal Investigator

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[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

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[Book] 筋疾患診療ハンドブック 筋強直性ジストロフィー2013

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[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

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[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

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[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)

Takahashi Masanori 高橋正紀

高橋正紀タカハシマサノリ

TAKAHASHI Masanori 高橋正紀

[Book] 筋疾患診療ハンドブック　筋強直性ジストロフィー2013

[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

[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

[Journal Article] Splicing misregulation of SCN5A contributes to　cardiac-conduction delay and heart arrhythmia in myotonic dystrophy.2016