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Role of abnormal RNA for the pathophysiology of hereditary muscle diseases

Research Project

Project/Area Number 23591245
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Neurology
Research InstitutionOsaka University

Principal Investigator

TAKAHASHI Masanori  大阪大学, 医学(系)研究科(研究院), 助教 (20359847)

Project Period (FY) 2011 – 2013
Project Status Completed (Fiscal Year 2013)
Budget Amount *help
¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000)
Fiscal Year 2013: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2012: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2011: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
Keywords筋強直性ジストロフィー / イオンチャネル / スプライシング / mRNA / チャネル病 / 筋疾患 / ナトリウムチャネル / mRNA / シミュレーション / 不整脈 / 国際情報交換 / フランス / パッチクランプ / 心臓
Research Abstract

Pathomechanism of hereditary skeletal muscle diseases, especially myotonic dystrophy (DM) and channelopathies of skeletal muscle were investigated in the light of RNA abnormality. Regarding DM, the pathomechanism of arrhythmia which is clinically important as a cause of sudden death in DM, was investigated. An mRNA missplicing of ion channel was identified in DM hearts and the subsequent electrophysiological analyses and in silico simulation revealed its link with arrhythmia. Regarding the channelopathies of skeletal muscle, the molecular mechanism of the splicing of minor AT-AC II intron was investigated for the first disease mutation identified recently. It should be of note that a novel causative gene for a channelopathy of muscle was identified.

Report

(4 results)
  • 2013 Annual Research Report   Final Research Report ( PDF )
  • 2012 Research-status Report
  • 2011 Research-status Report
  • Research Products

    (50 results)

All 2014 2013 2012 2011 Other

All Journal Article (17 results) (of which Peer Reviewed: 12 results,  Open Access: 1 results) Presentation (30 results) (of which Invited: 2 results) Book (2 results) Remarks (1 results)

  • [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

    • Related Report
      2013 Annual Research Report 2013 Final Research Report
    • Peer Reviewed / Open Access
  • [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

    • Related Report
      2013 Annual Research Report
  • [Journal Article] Ultrasound-enhanced delivery of Morpholino with Bubble liposomes ameliorates the myotonia of myotonic dystrophy model mice2013

    • Author(s)
      Koebis M, Kiyatake T, Yamaura H, Nagano K, Higashihara M, Sonoo M, Hayashi Y, Negishi Y, Endo-Takahashi Y, Yanagihara D, Matsuda R, Takahashi MP, Nishino I, Ishiura S.
    • Journal Title

      Scientific Reports

      Volume: 3 Issue: 1 Pages: 2242-2242

    • DOI

      10.1038/srep02242

    • URL

      https://pure.teikyo.jp/en/publications/afa601e8-cb29-4527-b49b-90b498db2a8e

    • Related Report
      2013 Annual Research Report 2013 Final Research Report
    • Peer Reviewed
  • [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

    • Related Report
      2013 Annual Research Report 2013 Final Research Report
    • Peer Reviewed
  • [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

    • Related Report
      2012 Research-status Report
    • Peer Reviewed
  • [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

    • Related Report
      2012 Research-status Report
  • [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

    • Related Report
      2012 Research-status Report
  • [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

    • Related Report
      2013 Final Research Report 2012 Research-status Report
    • Peer Reviewed
  • [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

    • Related Report
      2013 Final Research Report 2012 Research-status Report
    • Peer Reviewed
  • [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

    • Related Report
      2013 Final Research Report 2011 Research-status Report
    • Peer Reviewed
  • [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

    • Related Report
      2013 Final Research Report 2011 Research-status Report
    • Peer Reviewed
  • [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
    • Related Report
      2012 Research-status Report
  • [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

    • Related Report
      2013 Final Research Report 2011 Research-status Report
    • Peer Reviewed
  • [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

    • Related Report
      2013 Final Research Report 2011 Research-status Report
    • Peer Reviewed
  • [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

    • Related Report
      2013 Final Research Report 2011 Research-status Report
    • Peer Reviewed
  • [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

    • Related Report
      2013 Final Research Report 2011 Research-status Report
    • Peer Reviewed
  • [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

    • Related Report
      2011 Research-status Report
  • [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
    • Related Report
      2013 Final Research Report
  • [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
    • Related Report
      2013 Annual Research Report
  • [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
    • Related Report
      2013 Annual Research Report
  • [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
    • Related Report
      2013 Annual Research Report
  • [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
    • Related Report
      2013 Annual Research Report
  • [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
    • Related Report
      2013 Annual Research Report
  • [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
    • Related Report
      2013 Annual Research Report
  • [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
    • Related Report
      2013 Annual Research Report
  • [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
    • Related Report
      2013 Annual Research Report
  • [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
    • Related Report
      2013 Annual Research Report
  • [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
    • Related Report
      2013 Annual Research Report
  • [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
    • Related Report
      2013 Final Research Report
  • [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
    • Related Report
      2013 Final Research Report
  • [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
    • Related Report
      2012 Research-status Report
  • [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
    • Related Report
      2012 Research-status Report
    • Invited
  • [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
    • Related Report
      2012 Research-status Report
  • [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
    • Related Report
      2012 Research-status Report
  • [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
    • Related Report
      2012 Research-status Report
  • [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
    • Related Report
      2012 Research-status Report
  • [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
    • Related Report
      2012 Research-status Report
  • [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
    • Related Report
      2012 Research-status Report
    • Invited
  • [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)
    • Related Report
      2011 Research-status Report
  • [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)
    • Related Report
      2011 Research-status Report
  • [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)
    • Related Report
      2011 Research-status Report
  • [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)
    • Related Report
      2011 Research-status Report
  • [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)
    • Related Report
      2011 Research-status Report
  • [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)
    • Related Report
      2011 Research-status Report
  • [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
    • Related Report
      2011 Research-status Report
  • [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
    • Related Report
      2011 Research-status Report
  • [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
    • Related Report
      2011 Research-status Report
  • [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
    • Related Report
      2013 Final Research Report
  • [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
    • Related Report
      2013 Annual Research Report
  • [Remarks]

    • URL

      http://www.med.osaka-u.ac.jp/pub/neurol/myweb6/group04.html

    • Related Report
      2013 Final Research Report

URL: 

Published: 2011-08-05   Modified: 2019-07-29  

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