Investigation of Glucose Metabolism by Continuous Glucose Monitoring and Validation of Dipeptidyl Peptidase 4 Inhibitor Use in Patients with Myotonic Dystrophy Type 1

Hiroto Takada, Tsuyoshi Matsumura, Haruna Shimamura, Misa Matsui, Seiko Kon, Aono Fukumoto, Tomoya Kubota, Kosuke Yoshida, Hiromi Iwahashi, Masanori P. Takahashi

Journal of Clinical Medicine　Vol. 13　No. 17　p. 5252-5252　2024/09/05　Research paper (scientific journal)

CTG repeat length underlying cardiac events and sudden death in myotonic dystrophy type 1.

Hideki Itoh, Takashi Hisamatsu, Kazuhiko Segawa, Toshiaki Takahashi, Takumi Sato, Hiroto Takada, Satoshi Kuru, Chizu Wada, Mikiya Suzuki, Takuhisa Tamura, Shugo Suwazono, Koichi Kimura, Tsuyoshi Matsumura, Masanori P Takahashi

European heart journal open　Vol. 4　No. 5　2024/09　Research paper (scientific journal)

Analysis of Corneal Phenotypes in Japanese Patients With Myotonic Dystrophy Type 1.

Kenya Kubo, Yoshinori Oie, Ryota Koto, Nozomi Nishida, Chifune Kai, Sayo Maeno, Tomoya Kubota, Masayuki Nakamori, Masanori P Takahashi, Motokazu Tsujikawa, Kohji Nishida

Cornea　2024/08/21　Research paper (scientific journal)

Hydrops fetalis due to loss of function of hNav1.4 channel via compound heterozygous variants.

Tomoya Kubota, Miho Nagata, Kazuko Takagi, Yasuki Ishihara, Kurumi Kojima, Yuka Uchikura, Reina Yamamoto, Ayumi Yonei, Erina Ozaki, Natsuki Kira, Satoe Takahashi, Kazuaki Homma, Yohei Miyashita, Minenori Eguchi-Ishimae, Norio Sakai, Yohihiro Asano, Yasushi Sakata, Keiichi Ozono, Mariko Eguchi, Masanori P Takahashi

Journal of human genetics　2024/08/21　Research paper (scientific journal)

Worsening of myasthenic symptoms associated with statins.

Takamichi Sugimoto, Shigeaki Suzuki, Akiyuki Uzawa, Takemori Yamawaki, Masayuki Masuda, Naoya Minami, Naoki Kawaguchi, Tomoya Kubota, Masanori P Takahashi, Yasushi Suzuki, Genya Watanabe, Shingo Konno, Takashi Kimura, Makoto Samukawa, Kei Ishizuchi, Hiroyuki Akamine, Yosuke Onishi, Manato Yasuda, Yuriko Nagane, Hirofumi Maruyama, Hiroyuki Murai, Kimiaki Utsugisawa

Journal of the neurological sciences　Vol. 464　p. 123154-123154　2024/07/31　Research paper (scientific journal)

Switching disease-modifying therapies from sphingosine-1-phosphate receptor modulators to natalizumab or dimethyl fumarate restores immune responses after SARS-CoV-2 mRNA vaccination in patients with multiple sclerosis.

Minami Kanakura, Keigo Kihara, Makoto Kinoshita, Tomoyuki Sugimoto, Hisashi Murata, Shohei Beppu, Naoyuki Shiraishi, Yasuko Sugiyama, Toru Koda, Masanori P Takahashi, Ichino Chinen, Tatsusada Okuno, Hideki Mochizuki

Clinical neurology and neurosurgery　Vol. 243　p. 108378-108378　2024/06/15　Research paper (scientific journal)

Safety and efficacy of aceneuramic acid in GNE myopathy: open-label extension study.

Naoki Suzuki, Madoka Mori-Yoshimura, Masahisa Katsuno, Masanori P Takahashi, Satoshi Yamashita, Yasushi Oya, Atsushi Hashizume, Shinichiro Yamada, Masayuki Nakamori, Rumiko Izumi, Masaaki Kato, Hitoshi Warita, Maki Tateyama, Hiroshi Kuroda, Ryuta Asada, Takuhiro Yamaguchi, Ichizo Nishino, Masashi Aoki

Journal of neurology, neurosurgery, and psychiatry　2024/06/05

Therapeutic Responses to Efgartigimod for Generalized Myasthenia Gravis in Japan.

Shigeaki Suzuki, Akiyuki Uzawa, Yuriko Nagane, Masayuki Masuda, Shingo Konno, Tomoya Kubota, Makoto Samukawa, Kei Ishizuchi, Daiki Tokuyasu, Hideo Handa, Manato Yasuda, Naoki Kawaguchi, Takashi Kimura, Yasushi Suzuki, Takamichi Sugimoto, Naoya Minami, Masanori P Takahashi, Hiroyuki Murai, Kimiaki Utsugisawa

Neurology. Clinical practice　Vol. 14　No. 3　2024/06　Research paper (scientific journal)

Taste disorders and alopecia in myasthenia gravis.

Akiyuki Uzawa, Shigeaki Suzuki, Satoshi Kuwabara, Hiroyuki Akamine, Yosuke Onishi, Manato Yasuda, Yukiko Ozawa, Naoki Kawaguchi, Tomoya Kubota, Masanori P Takahashi, Yasushi Suzuki, Genya Watanabe, Takashi Kimura, Takamichi Sugimoto, Makoto Samukawa, Naoya Minami, Masayuki Masuda, Shingo Konno, Yuriko Nagane, Kimiaki Utsugisawa

BMC neurology　Vol. 24　No. 1　p. 139-139　2024/04/25　Research paper (scientific journal)

Real-world experience with eculizumab and switching to ravulizumab for generalized myasthenia gravis.

Daiki Tokuyasu, Shigeaki Suzuki, Akiyuki Uzawa, Yuriko Nagane, Masayuki Masuda, Shingo Konno, Tomoya Kubota, Makoto Samukawa, Takamichi Sugimoto, Kei Ishizuchi, Munenori Oyama, Manato Yasuda, Hiroyuki Akamine, Yosuke Onishi, Yasushi Suzuki, Naoki Kawaguchi, Naoya Minami, Takashi Kimura, Masanori P Takahashi, Hiroyuki Murai, Kimiaki Utsugisawa

Annals of clinical and translational neurology　2024/04/04　Research paper (scientific journal)

Facioscapulohumeral muscular dystrophy Health Index: Japanese translation and validation study.

Haruo Fujino, Masanori P Takahashi, Harumasa Nakamura, Chad R Heatwole, Hiroto Takada, Satoshi Kuru, Katsuhisa Ogata, Kiyoka Enomoto, Yuto Hayashi, Osamu Imura, Tsuyoshi Matsumura

Disability and rehabilitation　p. 1-10　2024/03/31　Research paper (scientific journal)

Erythromycin for myotonic dystrophy type 1: a multicentre, randomised, double-blind, placebo-controlled, phase 2 trial

Masayuki Nakamori, Daisaku Nakatani, Tomoharu Sato, Yuhei Hasuike, Seiko Kon, Toshio Saito, Harumasa Nakamura, Masanori P. Takahashi, Eisuke Hida, Hirofumi Komaki, Tsuyoshi Matsumura, Hiroto Takada, Hideki Mochizuki

eClinicalMedicine　Vol. 67　p. 102390-102390　2024/01　Research paper (scientific journal)

【小児科医が知っておくべき筋疾患診療:遺伝学的理解と治療の最新事情】代表的筋疾患 筋強直性ジストロフィー 遺伝学的理解と治療開発の最新事情

高橋 正紀

小児内科　Vol. 55　No. 12　p. 1923-1927　2023/12

Enhancing evidence-informed policymaking in medicine and healthcare: stakeholder involvement in the Commons Project for rare diseases in Japan.

Atsushi Kogetsu, Moeko Isono, Tatsuki Aikyo, Junichi Furuta, Dai Goto, Nao Hamakawa, Michihiro Hide, Risa Hori, Noriko Ikeda, Keiko Inoi, Naomi Kawagoe, Tomoya Kubota, Shirou Manabe, Yasushi Matsumura, Koji Matsuyama, Tomoko Nakai, Ikuko Nakao, Yuki Saito, Midori Senoo, Masanori P Takahashi, Toshihiro Takeda, Megumi Takei, Katsuto Tamai, Akio Tanaka, Yasuhiro Torashima, Yuya Tsuchida, Chisato Yamasaki, Beverley Anne Yamamoto, Kazuto Kato

Research involvement and engagement　Vol. 9　No. 1　p. 107-107　2023/11/29　Research paper (scientific journal)

RGMa collapses the neuronal actin barrier against disease-implicated protein and exacerbates ALS

Mikito Shimizu, Naoyuki Shiraishi, Satoru Tada, Tsutomu Sasaki, Goichi Beck, Seiichi Nagano, Makoto Kinoshita, Hisae Sumi, Tomoyuki Sugimoto, Yoko Ishida, Toru Koda, Teruyuki Ishikura, Yasuko Sugiyama, Keigo Kihara, Minami Kanakura, Tsuneo Nakajima, Shuko Takeda, Masanori P. Takahashi, Toshihide Yamashita, Tatsusada Okuno, Hideki Mochizuki

Science Advances　Vol. 9　No. 47　2023/11/24　Research paper (scientific journal)

Clinical features and outcomes of patients with muscle-specific kinase antibody-positive myasthenia gravis in Japan.

Manato Yasuda, Akiyuki Uzawa, Satoshi Kuwabara, Shigeaki Suzuki, Hiroyuki Akamine, Yosuke Onishi, Yukiko Ozawa, Naoki Kawaguchi, Tomoya Kubota, Masanori P Takahashi, Yasushi Suzuki, Genya Watanabe, Takashi Kimura, Takamichi Sugimoto, Makoto Samukawa, Naoya Minami, Masayuki Masuda, Shingo Konno, Yuriko Nagane, Kimiaki Utsugisawa

Journal of neuroimmunology　Vol. 385　p. 578241-578241　2023/11/07　Research paper (scientific journal)

【重症筋無力症 update】治療 補体を標的とした治療

高橋 正紀

Clinical Neuroscience　Vol. 41　No. 11　p. 1462-1465　2023/11

【重症筋無力症 update】MGのGWAS研究

後藤 里沙, 久保田 智哉, 高橋 正紀

Clinical Neuroscience　Vol. 41　No. 11　p. 1491-1493　2023/11

機械学習を用いた重症筋無力症のMinimal Manifestation診断モデルに関する研究

赤嶺 博行, 鵜沢 顕之, 桑原 聡, 大西 庸介, 安田 真人, 小澤 由希子, 川口 直樹, 久保田 智哉, 高橋 正紀, 鈴木 重明, 増田 眞之, 紺野 晋吾, 南 尚哉, 木村 卓, 村井 弘之, 渡辺 源也, 鈴木 靖士, 長根 百合子, 槍沢 公明

神経治療学　Vol. 40　No. 6　p. S281-S281　2023/10

【遺伝性筋疾患研究の進歩】筋強直性ジストロフィー研究の進歩

高橋 正紀

遺伝子医学　Vol. 13　No. 4　p. 60-65　2023/10

重症筋無力症におけるMM-5mgに相当するQOLスコアの検討

大西 庸介, 鵜沢 顕之, 桑原 聡, 鈴木 重明, 安田 真人, 赤嶺 博行, 川口 直樹, 長根 百合子, 久保田 智哉, 増田 眞之, 紺野 晋吾, 南 尚哉, 木村 卓, 杉本 太路, 鈴木 靖士, 渡辺 源也, 寒川 真, 高橋 正紀, 槍澤 公明

神経免疫学　Vol. 28　No. 1　p. 232-232　2023/09

Longitudinal Changes in Neuropsychological Functioning in Japanese Patients with Myotonic Dystrophy Type 1: A Five Year Follow-Up Study.

Haruo Fujino, Shugo Suwazono, Yukihiko Ueda, Michio Kobayashi, Takahiro Nakayama, Osamu Imura, Tsuyoshi Matsumura, Masanori P Takahashi

Journal of neuromuscular diseases　2023/08/17　Research paper (scientific journal)

Efficacy confirmation study of aceneuramic acid administration for GNE myopathy in Japan

Madoka Mori-Yoshimura, Naoki Suzuki, Masahisa Katsuno, Masanori P. Takahashi, Satoshi Yamashita, Yasushi Oya, Atsushi Hashizume, Shinichiro Yamada, Masayuki Nakamori, Rumiko Izumi, Masaaki Kato, Hitoshi Warita, Maki Tateyama, Hiroshi Kuroda, Ryuta Asada, Takuhiro Yamaguchi, Ichizo Nishino, Masashi Aoki

Orphanet Journal of Rare Diseases　Vol. 18　No. 1　p. 241-241　2023/08/11　Research paper (scientific journal)

【カルシウムと神経系-善人か悪人か?】カルシウムと臨床 麻痺

久保田 智哉, 高橋 正紀

Clinical Neuroscience　Vol. 41　No. 7　p. 936-938　2023/07

Optical measurement of gating pore currents in hypokalemic periodic paralysis model cells.

Tomoya Kubota, Satoe Takahashi, Risa Yamamoto, Ruka Sato, Aya Miyanooto, Reina Yamamoto, Kosuke Yamauchi, Kazuaki Homma, Masanori P Takahashi

Disease models & mechanisms　Vol. 16　No. 6　2023/06/01　Research paper (scientific journal)

Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan.

Naoki Suzuki, Madoka Mori-Yoshimura, Masahisa Katsuno, Masanori P Takahashi, Satoshi Yamashita, Yasushi Oya, Atsushi Hashizume, Shinichiro Yamada, Masayuki Nakamori, Rumiko Izumi, Masaaki Kato, Hitoshi Warita, Maki Tateyama, Hiroshi Kuroda, Ryuta Asada, Takuhiro Yamaguchi, Ichizo Nishino, Masashi Aoki

Journal of neuromuscular diseases　Vol. 10　No. 4　p. 555-566　2023/04/25　Research paper (scientific journal)

Hyperkalemic periodic paralysis associated with a novel missense variant located in the inner pore of Nav1.4.

Kazuki Segawa, Masahiro Nishiyama, Itsuki Mori, Tomoya Kubota, Masanori P Takahashi

Brain & development　Vol. 45　No. 4　p. 205-211　2023/04　Research paper (scientific journal)

The current status of medical care for myotonic dystrophy type 1 in the national registry of Japan.

Kosuke Yamauchi, Tsuyoshi Matsumura, Hiroto Takada, Satoshi Kuru, Michio Kobayashi, Tomoya Kubota, En Kimura, Harumasa Nakamura, Masanori P Takahashi

Muscle & nerve　Vol. 67　No. 5　p. 387-393　2023/02/10　Research paper (scientific journal)

【骨格筋のすべて-メカニズムからサルコペニアまで】筋症状を伴う疾患 筋チャネル病・周期性四肢麻痺

久保田 智哉, 高橋 正紀

Clinical Neuroscience　Vol. 41　No. 2　p. 244-247　2023/02　Research paper (scientific journal)

Effectiveness of early cycles of fast-acting treatment in generalised myasthenia gravis.

Akiyuki Uzawa, Shigeaki Suzuki, Satoshi Kuwabara, Hiroyuki Akamine, Yosuke Onishi, Manato Yasuda, Yukiko Ozawa, Naoki Kawaguchi, Tomoya Kubota, Masanori P Takahashi, Yasushi Suzuki, Genya Watanabe, Takashi Kimura, Takamichi Sugimoto, Makoto Samukawa, Naoya Minami, Masayuki Masuda, Shingo Konno, Yuriko Nagane, Kimiaki Utsugisawa

Journal of neurology, neurosurgery, and psychiatry　2023/01/24　Research paper (scientific journal)

Impact of Early Treatment with Intravenous High-Dose Methylprednisolone for Ocular Myasthenia Gravis.

Akiyuki Uzawa, Shigeaki Suzuki, Satoshi Kuwabara, Hiroyuki Akamine, Yosuke Onishi, Manato Yasuda, Yukiko Ozawa, Naoki Kawaguchi, Tomoya Kubota, Masanori P Takahashi, Yasushi Suzuki, Genya Watanabe, Takashi Kimura, Takamichi Sugimoto, Makoto Samukawa, Naoya Minami, Masayuki Masuda, Shingo Konno, Yuriko Nagane, Kimiaki Utsugisawa

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics　Vol. 20　No. 2　p. 518-523　2023/01/06　Research paper (scientific journal)

難治性疾患(難病)を学ぶ 筋強直性ジストロフィー

佐藤 友紀, 高橋 正紀

遺伝子医学　Vol. 13　No. 1　p. 85-90　2023/01

Periodic paralysis due to cumulative effects of rare variants in SCN4A with small functional alterations.

Maki Shibano, Tomoya Kubota, Norito Kokubun, Yosuke Miyaji, Hiroko Kuriki, Yuzuru Ito, Haruka Hamanoue, Masanori P Takahashi

Muscle & nerve　Vol. 66　No. 6　p. 757-761　2022/09/18　Research paper (scientific journal)

【重症筋無力症治療の新展開】重症筋無力症で使用される分子標的薬 エフガルチギモドアルファの作用機序、有効性、適応となる患者像

高橋 正紀

Progress in Medicine　Vol. 42　No. 8　p. 773-777　2022/08

治療法の再整理とアップデートのために 専門家による私の治療 周期性四肢麻痺

久保田 智哉, 高橋 正紀

日本医事新報　No. 5126　p. 46-47　2022/07　Research paper (scientific journal)

Quality of life and subjective symptom impact in Japanese patients with myotonic dystrophy type 1.

Haruo Fujino, Toshio Saito, Masanori P Takahashi, Hiroto Takada, Takahiro Nakayama, Osamu Imura, Tsuyoshi Matsumura

BMC neurology　Vol. 22　No. 1　p. 55-55　2022/02/14　Research paper (scientific journal)

【筋強直性ジストロフィーについて】[第5部]これから変わる筋強直性ジストロフィーの医療

高橋 正紀

難病と在宅ケア　Vol. 27　No. 11　p. 21-24　2022/02

Characteristics of myotonic dystrophy patients in the national registry of Japan.

Marika Sugimoto, Satoshi Kuru, Hiroto Takada, Riho Horie, Kosuke Yamauchi, Tomoya Kubota, Tsuyoshi Matsumura, Harumasa Nakamura, En Kimura, Masanori P Takahashi

Journal of the neurological sciences　Vol. 432　p. 120080-120080　2022/01/15　Research paper (scientific journal)

Japan MG registry: Chronological surveys over 10 years

Shigeaki Suzuki, Masayuki Masuda, Akiyuki Uzawa, Yuriko Nagane, Shingo Konno, Yasushi Suzuki, Tomoya Kubota, Takamichi Sugimoto, Makoto Samukawa, Genya Watanabe, Kei Ishizuchi, Hiroyuki Akamine, Yosuke Onishi, Kazuki Yoshizumi, Takafumi Uchi, Itaru Amino, Yuki Ueta, Naoya Minami, Naoki Kawaguchi, Takashi Kimura, Masanori P. Takahashi, Hiroyuki Murai, Kimiaki Utsugisawa

Clinical and Experimental Neuroimmunology　Vol. 14　No. 1　p. 5-12　2022　Research paper (scientific journal)

Mature Myotubes Generated From Human-Induced Pluripotent Stem Cells Without Forced Gene Expression.

Kei Fujiwara, Risa Yamamoto, Tomoya Kubota, Atsutoshi Tazumi, Tomoka Sabuta, Masanori P Takahashi, Hidetoshi Sakurai

Frontiers in cell and developmental biology　Vol. 10　p. 886879-886879　2022　Research paper (scientific journal)

A Case of a Mild Clinical Phenotype with Myopathic and Hemolytic Forms of Phosphoglycerate Kinase Deficiency (PGK Osaka): A Case Report and Literature Review

Kousuke Baba, Tokiko Fukuda, Mitsuru Furuta, Satoru Tada, Atsuko Imai, Yoshihiro Asano, Hideo Sugie, Masanori P. Takahashi, Hideki Mochizuki

Internal Medicine　2022　Research paper (scientific journal)

【新組織学シリーズII:骨格筋-今後の研究の発展に向けて】骨格筋を障害する疾患の注目すべき病態 筋チャネル病の新たな病態

久保田 智哉, 高橋 正紀

生体の科学　Vol. 72　No. 6　p. 555-559　2021/12

A nationwide survey of episodic ataxia in Japan

Tomoya Kubota, Manami Hama, Yoshihiro Sugiura, Yuji Takahashi, Kinya Ishikawa, Hidehiro Mizusawa, Masanori P. Takahashi

Neurology and Clinical Neuroscience　Vol. 9　No. 6　p. 443-451　2021/11　Research paper (scientific journal)

Hemiplegic migraine type 2 caused by a novel variant within the P-type ATPase motif in ATP1A2 concomitant with a CACNA1A variant.

Tomoya Kubota, Shin Nabatame, Ruka Sato, Manami Hama, Ujiakira Nishiike, Hideki Mochizuki, Masanori P Takahashi, Takao Takeshima

Brain & Development　Vol. 43　No. 9　p. 952-957　2021/10

筋強直性ジストロフィー1型の遺伝学的診療に関する臨床遺伝専門医対象調査

松村 剛, 秋澤 叔香, 石垣 景子, 高橋 正紀

臨床神経学　Vol. 61　No. 9　p. 602-612　2021/09

A web-based questionnaire survey on the influence of coronavirus disease-19 on the care of patients with muscular dystrophy.

Tsuyoshi Matsumura, Hiroto Takada, Michio Kobayashi, Takashi Nakajima, Katsuhisa Ogata, Akinori Nakamura, Michinori Funato, Satoshi Kuru, Kiyonobu Komai, Naonobu Futamura, Yoshiki Adachi, Hajime Arahata, Takayasu Fukudome, Masatoshi Ishizaki, Shugo Suwazono, Masashi Aoki, Tohru Matsuura, Masanori P Takahashi, Yoshihide Sunada, Kouzou Hanayama, Hiroya Hashimoto, Harumasa Nakamura

Neuromuscular Disorders　Vol. 31　No. 9　p. 839-846　2021/09　Research paper (scientific journal)

Safety, efficacy, and tolerability of efgartigimod in patients with generalised myasthenia gravis (ADAPT): a multicentre, randomised, placebo-controlled, phase 3 trial

James F. Howard, Vera Bril, Tuan Vu, Chafic Karam, Stojan Peric, Temur Margania, Hiroyuki Murai, Malgorzata Bilinska, Roman Shakarishvili, Marek Smilowski, Antonio Guglietta, Peter Ulrichts, Tony Vangeneugden, Kimiaki Utsugisawa, Jan Verschuuren, Renato Mantegazza, Jan De Bleeker, Kathy De Koning, Katrien De Mey, Annelien De Pue, Rudolf Mercelis, Maren Wyckmans, Caroline Vinck, Linda Wagemaekers, Jonathan Baets, Eduardo Ng, Jafar Shabanpour, Lubna Daniyal, Shabber Mannan, Hans Katzberg, Angela Genge, Zaeem Siddiqi, Jana Junkerová, Jana Horakova, Katerina Reguliova, Michaela Tyblova, Ivana Jurajdova, Iveta Novakova, Michala Jakubikova, Jiri Pitha, Stanislav Vohanka, Katerina Havelkova, Tomas Horak, Josef Bednarik, Mageda Horakova, Andreas Meisel, Dike Remstedt, Claudia Heibutzki, Siegfried Kohler, Sarah Hoffman, Frauke Stascheit, John Vissing, Lizzie Zafirakos, Kuldeep Kumar Khatri, Anne Autzen, Mads Peter Godtfeldt Stemmerik, Henning Andersen, Shahram Attarian, Alexander Tsiskaridze, Csilla Rózsa, Gedeonne Margo Jakab, Szilvia Toth, Gyorgyi Szabo, David Bors, Eniko Szabo, Angela Campanella, Fiammetta Vanoli, Rita Frangiamore, Carlo Antozzi, Silvia Bonanno, Lorenzo Maggi, Riccardo Giossi, Francesco Saccà, Angela Marsili, Tiziana Imbriglio, Giovanni Antonini, Girolamo Alfieri, Stefania Morino, Matteo Garibaldi, Laura Fionda, Luca Leonardi, Shingo Konno, Akiyuki Uzawa, Kaoru Sakuma, Chiho Watanabe, Yukiko Ozawa, Manato Yasuda, Yosuke Onishi, Makoto Samukawa, Tomoko Tsuda, Yasushi Suzuki, Sayaka Ishida, Genya Watanabe, Masanori Takahashi, Hiroko Nakamura, Erina Sugano, Tomoya Kubota, Tomihiro Imai, Suzuki Mari, Ayako Mori

The Lancet Neurology　Vol. 20　No. 7　p. 526-536　2021/07　Research paper (scientific journal)

Clinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes.

Theerawat Kumutpongpanich, Masashi Ogasawara, Ayami Ozaki, Hiroyuki Ishiura, Shoji Tsuji, Narihiro Minami, Shinichiro Hayashi, Satoru Noguchi, Aritoshi Iida, Ichizo Nishino, Madoka Mori-Yoshimura, Yasushi Oya, Kenjiro Ono, Toshio Shimizu, Akihiro Kawata, Shun Shimohama, Keiko Toyooka, Kaoru Endo, Shuta Toru, Oga Sasaki, Kenji Isahaya, Masanori P Takahashi, Kazuo Iwasa, Jun-Ichi Kira, Tatsuya Yamamoto, Michi Kawamoto, Tadanori Hamano, Kazuma Sugie, Nobuyuki Eura, Tomo Shiota, Mizuho Koide, Kanako Sekiya, Hideaki Kishi, Takuto Hideyama, Shigeru Kawai, Satoshi Yanagimoto, Hiroyasu Sato, Hajime Arahata, Shigeo Murayama, Kayoko Saito, Hideo Hara, Takashi Kanda, Hiroshi Yaguchi, Noboru Imai, Yuichi Kawagashira, Mitsuru Sanada, Kazuki Obara, Misako Kaido, Minori Furuta, Takashi Kurashige, Wataru Hara, Daisuke Kuzume, Mamoru Yamamoto, Jun Tsugawa, Hitaru Kishida, Naoki Ishizuka, Kohei Morimoto, Yukio Tsuji, Atsuko Tsuneyama, Atsuhiro Matsuno, Ryo Sasaki, Daigo Tamakoshi, Erika Abe, Shinichiro Yamada, Akiyuki Uzawa

JAMA neurology　Vol. 78　No. 7　p. 853-863　2021/07/01　Research paper (scientific journal)

Metabolic complications in myotonic dystrophy type 1: A cross-sectional survey using the National Registry of Japan.

Manami Hama, Riho Horie, Tomoya Kubota, Tsuyoshi Matsumura, En Kimura, Harumasa Nakamura, Masanori P Takahashi, Hiroto Takada

Journal of the neurological sciences　Vol. 427　p. 117511-117511　2021/05/27　Research paper (scientific journal)

The practice of active patient involvement in rare disease research using ICT: experiences and lessons from the RUDY JAPAN project.

Nao Hamakawa, Atsushi Kogetsu, Moeko Isono, Chisato Yamasaki, Shirou Manabe, Toshihiro Takeda, Kazumasa Iwamoto, Tomoya Kubota, Joe Barrett, Nathanael Gray, Alison Turner, Harriet Teare, Yukie Imamura, Beverley Anne Yamamoto, Jane Kaye, Michihiro Hide, Masanori P Takahashi, Yasushi Matsumura, Muhammad Kassim Javaid, Kazuto Kato

Research involvement and engagement　Vol. 7　No. 1　p. 9-9　2021/02/01　Research paper (scientific journal)

Questionnaire surveys of clinical genetic specialists on the medical genetics for patients with myotonic dystrophy type 1,筋強直性ジストロフィー 1 型の遺伝学的診療に関する臨床遺伝専門医対象調査

Matsumura, T., Akizawa, Y., Ishigaki, K., Takahashi, M.

Clinical Neurology　Vol. 61　No. 9　2021　Research paper (scientific journal)

神経難病における地域・専門遺伝カウンセリング施設のそれぞれの現状と役割 認定遺伝カウンセラーの視点から

佐藤 友紀, 野正 佳余, 平井 幸枝, 澤田 甚一, 高橋 正紀, 酒井 規夫, 坂口 学, 望月 秀樹

日本難病医療ネットワーク学会機関誌　Vol. 7　No. 3　p. 39-46　2020/11

Cardiac Conduction Disorders as Markers of Cardiac Events in Myotonic Dystrophy Type 1.

Hideki Itoh, Takashi Hisamatsu, Takuhisa Tamura, Kazuhiko Segawa, Toshiaki Takahashi, Hiroto Takada, Satoshi Kuru, Chizu Wada, Mikiya Suzuki, Shugo Suwazono, Shingo Sasaki, Ken Okumura, Minoru Horie, Masanori P Takahashi, Tsuyoshi Matumura

Journal of the American Heart Association　Vol. 9　No. 17　2020/08/19　Research paper (scientific journal)

Cardiac Emerinopathy: A Non-syndromic Nuclear Envelopathy with Increased Risk of Thromboembolic Stroke due to Progressive Atrial Standstill and Left Ventricular Non-compaction.

Taisuke Ishikawa, Hiroyuki Mishima, Julien Barc, Masanori P Takahashi, Keiichi Hirono, Shigenori Terada, Shinya Kowase, Teruki Sato, Yasushi Mukai, Yoshiaki Yui, Kimie Ohkubo, Hiroki Kimoto, Hiroyuki Watanabe, Yukiko Hata, Takeshi Aiba, Seiko Ohno, Akiko Chishaki, Wataru Shimizu, Minoru Horie, Fukiko Ichida, Akihiko Nogami, Koh-Ichiro Yoshiura, Jean-Jacques Schott, Naomasa Makita

Circulation. Arrhythmia and electrophysiology　Vol. 13　No. 10　2020/07/29　Research paper (scientific journal)

遺伝性筋疾患におけるトランスレーショナル・リサーチ GNEミオパチーの治療法開発

青木 正志, 鈴木 直輝, 井泉 瑠美子, 割田 仁, 森 まどか, 勝野 雅央, 高橋 正紀, 山下 賢, 西野 一三

神経治療学　Vol. 37　No. 4　p. 656-660　2020/07

Hypokalaemic periodic paralysis with a charge-retaining substitution in the voltage sensor.

Tomoya Kubota, Fenfen Wu, Savine Vicart, Maki Nakaza, Damien Sternberg, Daisuke Watanabe, Mitsuru Furuta, Yosuke Kokunai, Tatsuya Abe, Norito Kokubun, Bertrand Fontaine, Stephen C Cannon, Masanori P Takahashi

Brain communications　Vol. 2　No. 2　2020/07　Research paper (scientific journal)

Mutation spectrum and health status in skeletal muscle channelopathies in Japan.

Ryogen Sasaki, Maki Nakaza, Mitsuru Furuta, Haruo Fujino, Tomoya Kubota, Masanori P Takahashi

Neuromuscular disorders　Vol. 30　No. 7　p. 546-553　2020/07　Research paper (scientific journal)

EF hand-like motif mutations of Nav1.4 C-terminus cause myotonic syndrome by impairing fast inactivation.

Riho Horie, Tomoya Kubota, Jinsoo Koh, Rieko Tanaka, Yuichiro Nakamura, Ryogen Sasaki, Hidefumi Ito, Masanori P Takahashi

Muscle & nerve　Vol. 61　No. 6　p. 808-814　2020/06　Research paper (scientific journal)

Analysis of the genetic background associated with sporadic periodic paralysis in Japanese patients.

Maki Nakaza, Yuri Kitamura, Mitsuru Furuta, Tomoya Kubota, Ryogen Sasaki, Masanori P Takahashi

Journal of the neurological sciences　Vol. 412　p. 116795-116795　2020/05/15　Research paper (scientific journal)

The expanding phenotype of hypokalemic periodic paralysis in a Japanese family with p.Val876Glu mutation in CACNA1S.

Mari Kurokawa, Michiko Torio, Kazuhiro Ohkubo, Vlad Tocan, Noriko Ohyama, Naoko Toda, Kanako Ishii, Kei Nishiyama, Yuichi Mushimoto, Ryuichi Sakamoto, Maki Nakaza, Riho Horie, Tomoya Kubota, Masanori P Takahashi, Yasunari Sakai, Masatoshi Nomura, Shouichi Ohga

Molecular genetics & genomic medicine　Vol. 8　No. 4　2020/04　Research paper (scientific journal)

[Study of medical practices for patients with myotonic dystrophy in Japan-Nationwide specialist survey].

Tsuyoshi Matsumura, Hiroto Takada, Keiko Ishigaki, Hirofumi Komaki, Masanori P Takahashi

Rinsho shinkeigaku = Clinical neurology　Vol. 60　No. 2　p. 120-129　2020/02/27　Research paper (scientific journal)

[Study of care practices for patients with myotonic dystrophy in Japan-Nationwide patient survey].

Masanori P Takahashi, Risa Yamamoto, Tomoya Kubota, Tohru Matsuura, Keiko Ishigaki, Yoshihide Sunada, Hirofumi Komaki, Hiroto Takada, Satoshi Kuru, Tsuyoshi Matsumura

Rinsho shinkeigaku = Clinical neurology　Vol. 60　No. 2　p. 130-136　2020/02/27　Research paper (scientific journal)

本邦における筋強直性ジストロフィーの患者実態調査 患者対象全国調査

高橋 正紀, 山本 理紗, 久保田 智哉, 松浦 徹, 石垣 景子, 砂田 芳秀, 小牧 宏文, 高田 博仁, 久留 聡, 松村 剛

臨床神経学　Vol. 60　No. 2　p. 130-136　2020/02

本邦における筋強直性ジストロフィーの診療実態調査 専門医対象全国調査

松村 剛, 高田 博仁, 石垣 景子, 小牧 宏文, 高橋 正紀

臨床神経学　Vol. 60　No. 2　p. 120-129　2020/02

A slipped-CAG DNA-binding small molecule induces trinucleotide-repeat contractions in vivo.

Masayuki Nakamori, Gagan B Panigrahi, Stella Lanni, Terence Gall-Duncan, Hideki Hayakawa, Hana Tanaka, Jennifer Luo, Takahiro Otabe, Jinxing Li, Akihiro Sakata, Marie-Christine Caron, Niraj Joshi, Tanya Prasolava, Karen Chiang, Jean-Yves Masson, Marc S Wold, Xiaoxiao Wang, Marietta Y W T Lee, John Huddleston, Katherine M Munson, Scott Davidson, Mehdi Layeghifard, Lisa-Monique Edward, Richard Gallon, Mauro Santibanez-Koref, Asako Murata, Masanori P Takahashi, Evan E Eichler, Adam Shlien, Kazuhiko Nakatani, Hideki Mochizuki, Christopher E Pearson

Nature genetics　Vol. 52　No. 2　p. 146-159　2020/02　Research paper (scientific journal)

【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

中森 雅之, 高橋 正紀

小児科診療　Vol. 83　No. 1　p. 45-50　2020/01

Functional analysis of a double-point mutation in the KCNJ2 gene identified in a family with Andersen-Tawil syndrome.

Shinobu Fukumura, Kosuke Yamauchi, Akira Kawanabe, Akiyo Yamamoto, Maki Nakaza, Tomoya Kubota, Shinsuke Kato, Ryogen Sasaki, Yasushi Okamura, Masanori P Takahashi

Journal of the neurological sciences　Vol. 407　p. 116521-116521　2019/12/15　Research paper (scientific journal)

Straightjacket/α2δ3 deregulation is associated with cardiac conduction defects in myotonic dystrophy type 1

Auxerre-Planti{\'e}, E., Nakamori, M., Renaud, Y., Huguet, A., Choquet, C., Dondi, C., Miquerol, L., Takahashi, M.P., Gourdon, G., Junion, G., Jagla, T., Zmojdzian, M., Jagla, K.

eLife　Vol. 8　2019/12　Research paper (scientific journal)

指定難病最前線(volume 96) 遺伝性周期性四肢麻痺

久保田 智哉, 木村 卓, 高橋 正紀

新薬と臨牀　Vol. 68　No. 11　p. 1474-1478　2019/11

Transient thyrotoxicosis‐aggravated attacks of paralysis in a patient with hereditary hypokalemic periodic paralysis type 2

Shu‐ichi Nagamatsu, Yasushi Osaki, Yukari Morita, Yuka Miyamoto, Itsuki Mori, Tomoya Kubota, Masanori P. Takahashi, Tomomi Furushima, Hirokazu Furuya

Neurology and Clinical Neuroscience　Vol. 7　No. 6　p. 354-356　2019/11　Research paper (scientific journal)

Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: Case study of a global collaboration for a rare disease (Orphanet Journal of Rare Diseases (2018) 13 (155) DOI: 10.1186/s13023-018-0889-0)

Libby Wood, Guillaume Bassez, Corinne Bleyenheuft, Craig Campbell, Louise Cossette, Aura Cecilia Jimenez-Moreno, Yi Dai, Hugh Dawkins, Jordi Díaz-Manera, Celine Dogan, Rasha El Sherif, Barbara Fossati, Caroline Graham, James Hilbert, Kristinia Kastreva, En Kimura, Lawrence Korngut, Anna Kostera-Pruszczyk, Christopher Lindberg, Bjorn Lindvall, Elizabeth Luebbe, Anna Lusakowska, Radim Mazanec, Giovani Meola, Liannna Orlando, Masanori P. Takahashi, Stojan Peric, Jack Puymirat, Vidosava Rakocevic-Stojanovic, Miriam Rodrigues, Richard Roxburgh, Benedikt Schoser, Sonia Segovia, Andriy Shatillo, Simone Thiele, Ivailo Tournev, Baziel Van Engelen, Stanislav Vohanka, Hanns Lochmüller

Orphanet Journal of Rare Diseases　Vol. 14　No. 1　2019/08/15　Research paper (scientific journal)

The myotonic dystrophy health index: Japanese adaption and validity testing.

Itsuki Mori, Haruo Fujino, Tsuyoshi Matsumura, Hiroto Takada, Katsuhisa Ogata, Masayuki Nakamori, Keisuke Innami, Honoka Shingaki, Osamu Imura, Masanori P Takahashi, Chad Heatwole

Muscle & Nerve　Vol. 59　No. 5　p. 577-582　2019/05　Research paper (scientific journal)

A family with both X-linked dominant Charcot-Marie-Tooth disease and myotonic dystrophy type 1 mutations with phenotypic variations

Mori Chiaki, Nakatani Rie, Nakamori Masayuki, Matsumura Tsuyoshi, Takahashi Masanori P, Fujimura Harutoshi, Mochizuki Hideki, Sakoda Saburo

NEUROLOGY AND CLINICAL NEUROSCIENCE　Vol. 7　No. 2　p. 88-90　2019/03　Research paper (scientific journal)

RbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences

Chantal Sellier, Estefanía Cerro-Herreros, Markus Blatter, Fernande Freyermuth, Angeline Gaucherot, Frank Ruffenach, Partha Sarkar, Jack Puymirat, Bjarne Udd, John W. Day, Giovanni Meola, Guillaume Bassez, Harutoshi Fujimura, Masanori P. Takahashi, Benedikt Schoser, Denis Furling, Ruben Artero, Frédéric H. T. Allain, Beatriz Llamusi, Nicolas Charlet-Berguerand

Nature Communications　Vol. 9　No. 1　2018/12/01　Research paper (scientific journal)

遺伝学的検査により同定されたAndersen-Tawil症候群家系における新規遺伝子変異V296Fとその機能解析

山内 亨祐, 福村 忍, 川鍋 陽, 山本 晃代, 仲座 真希, 久保田 智哉, 加藤 辰輔, 佐々木 良元, 岡村 康司, 高橋 正紀

臨床神経生理学　Vol. 46　No. 5　p. 482-482　2018/10

Eight years after an international workshop on myotonic dystrophy patient registries: Case study of a global collaboration for a rare disease

Wood, L., Bassez, G., Bleyenheuft, C., Campbell, C., Cossette, L., Jimenez-Moreno, A.C., Dai, Y., Dawkins, H., Manera, J.A.D., Dogan, C., El Sherif, R., Fossati, B., Graham, C., Hilbert, J., Kastreva, K., Kimura, E., Korngut, L., Kostera-Pruszczyk, A., Lindberg, C., Lindvall, B., Luebbe, E., Lusakowska, A., Mazanec, R., Meola, G., Orlando, L., Takahashi, M.P., Peric, S., Puymirat, J., Rakocevic-Stojanovic, V., Rodrigues, M., Roxburgh, R., Schoser, B., Segovia, S., Shatillo, A., Thiele, S., Tournev, I., Van Engelen, B., Vohanka, S., Lochm{\"u}ller, H.

Orphanet Journal of Rare Diseases　Vol. 13　No. 1　2018/09　Research paper (scientific journal)

Cognitive impairment and quality of life in patients with myotonic dystrophy type 1.

Haruo Fujino, Honoka Shingaki, Shugo Suwazono, Yukihiko Ueda, Chizu Wada, Takahiro Nakayama, Masanori P Takahashi, Osamu Imura, Tsuyoshi Matsumura

Muscle & nerve　Vol. 57　No. 5　p. 742-748　2018/05　Research paper (scientific journal)

GNE myopathy caused by a synonymous mutation leading to aberrant mRNA splicing.

Wenhua Zhu, Masaki Eto, Satomi Mitsuhashi, Kazushiro Takata, Goichi Beck, Hisae Sumi-Akamaru, Hideki Mochizuki, Saburo Sakoda, Masanori P Takahashi, Ichizo Nishino

Neuromuscular disorders : NMD　Vol. 28　No. 2　p. 154-157　2018/02　Research paper (scientific journal)

Clinical features of skeletal muscle and their underlying molecular mechanism

Takahashi, M.

Myotonic Dystrophy: Disease Mechanism, Current Management and Therapeutic Development　2018　Research paper (scientific journal)

Preface

Matsuura, T., Takahashi, M.

Myotonic Dystrophy: Disease Mechanism, Current Management and Therapeutic Development　2018　Research paper (scientific journal)

Macroscopic and microscopic diversity of missplicing in the central nervous system of patients with myotonic dystrophy type 1

Mitsuru Furuta, Takashi Kimura, Masayuki Nakamori, Tsuyoshi Matsumura, Harutoshi Fujimura, Kenji Jinnai, Masanori P. Takahashi, Hideki Mochizuki, Hiroo Yoshikawa

NeuroReport　Vol. 29　No. 3　p. 235-240　2018　Research paper (scientific journal)

Validation of The Individualized Neuromuscular Quality of Life in Japanese patients with myotonic dystrophy

Fujino Haruo, Saito Toshio, Takahashi Masanori P, Takada Hiroto, Nakayama Takahiro, Ogata Katsuhisa, Rose Michael R, Imura Osamu, Matsumura Tsuyoshi

MUSCLE & NERVE　Vol. 58　No. 1　p. 56-63　2018/01　Research paper (scientific journal)

WNK1/HSN2 founder mutation in patients with hereditary sensory and autonomic neuropathy: A Japanese cohort study

J. -H. Yuan, A. Hashiguchi, A. Yoshimura, N. Sakai, M. P. Takahashi, T. Ueda, A. Taniguchi, S. Okamoto, N. Kanazawa, Y. Yamamoto, K. Saigoh, S. Kusunoki, M. Ando, Y. Hiramatsu, Y. Okamoto, H. Takashima

CLINICAL GENETICS　Vol. 92　No. 6　p. 659-663　2017/12　Research paper (scientific journal)

QOL self-assessment scales for patients with muscular dystrophy

Osamu Imura, Haruo Fujino, Masanori Takahashi

IRYO - Japanese Journal of National Medical Services　Vol. 71　No. 10　p. 404-408　2017/10/01　Research paper (international conference proceedings)

Aberrant Myokine Signaling in Congenital Myotonic Dystrophy

Masayuki Nakamori, Kohei Hamanaka, James D. Thomas, Eric T. Wang, Yukiko K. Hayashi, Masanori P. Takahashi, Maurice S. Swanson, Ichizo Nishino, Hideki Mochizuki

CELL REPORTS　Vol. 21　No. 5　p. 1240-1252　2017/10　Research paper (scientific journal)

同行訪問事業を通じた神経筋難病患者の在宅医療支援に対する当院の現状と課題

奈古 由美子, 小仲 邦, 隅 寿恵, 井狩 知幸, 小西 かおる, 高橋 正紀, 望月 秀樹

日本難病医療ネットワーク学会機関誌　Vol. 5　No. 1　p. 113-113　2017/09

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

Junko Ueki, Masayuki Nakamori, Masahiro Nakamura, Misato Nishikawa, Yoshinori Yoshida, Azusa Tanaka, Asuka Morizane, Masayoshi Kamon, Toshiyuki Araki, Masanori P. Takahashi, Akira Watanabe, Nobuya Inagaki, Hidetoshi Sakurai

SCIENTIFIC REPORTS　Vol. 7　2017/02　Research paper (scientific journal)

当院の難病患者在宅医療支援事業への役割期待

井狩 知幸, 聲高 英代, 小仲 邦, 隅 寿恵, 高橋 正紀, 小西 かおる, 望月 秀樹

臨床神経学　Vol. 56　No. Suppl.　p. S261-S261　2016/12

Language-related cerebral oscillatory changes are influenced equally by genetic and environmental factors

Toshihiko Araki, Osaka Twin Research Group, Masayuki Hirata, Takufumi Yanagisawa, Hisato Sugata, Mai Onishi, Yoshiyuki Watanabe, Soshiro Ogata, Chika Honda, Kazuo Hayakawa, Shiro Yorifuji, Yoshinori Iwatani, Norio Sakai, Kei Kamide, Shinji Kihara, Kiyoko Makimoto, Hiroko Watanabe, Jun Hatazawa, Masanori Takahashi, Mikio Watanabe, Chika Honda, Rie Tomizawa

NeuroImage　Vol. 142　p. 241-247　2016/11/15　Research paper (scientific journal)

難病患者在宅医療支援事業における神経筋難病患者の地域医療との関わり

井狩 知幸, 小仲 邦, 隅 寿恵, 奈古 由美子, 聲高 英代, 大原 千園, 小西 かおる, 高橋 正紀, 望月 秀樹

日本難病医療ネットワーク学会機関誌　Vol. 4　No. 1　p. 99-99　2016/11

当院における難病患者在宅医療支援事業とその役割について

井狩 知幸, 聲高 英代, 奈古 由美子, 小仲 邦, 隅 寿恵, 高橋 正紀, 小西 かおる, 望月 秀樹

神経治療学　Vol. 33　No. 5　p. S260-S260　2016/10

A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes

Hideki Kato, Yosuke Kokunai, Carine Dalle, Tomoya Kubota, Yuta Madokoro, Hiroyuki Yuasa, Yuto Uchida, Tomomasa Ikeda, Hideki Mochizuki, Sophie Nicole, Bertrand Fontaine, Masanori P. Takahashi, Shigehisa Mitake

JOURNAL OF THE NEUROLOGICAL SCIENCES　Vol. 369　p. 254-258　2016/10　Research paper (scientific journal)

An elderly-onset limb girdle muscular dystrophy type 1B (LGMD1B) with pseudo-hypertrophy of paraspinal muscles

Mitsuru Furuta, Hisae Sumi-Akamaru, Masanori P. Takahashi, Yukiko K. Hayashi, Ichizo Nishino, Hideki Mochizuki

NEUROMUSCULAR DISORDERS　Vol. 26　No. 9　p. 593-597　2016/09　Research paper (scientific journal)

Using digital technologies to engage with medical research: views of myotonic dystrophy patients in Japan

Victoria Coathup, Harriet J. A. Teare, Jusaku Minari, Go Yoshizawa, Jane Kaye, Masanori P. Takahashi, Kazuto Kato

BMC MEDICAL ETHICS　Vol. 17　No. 1　2016/08　Research paper (scientific journal)

Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy

Fernande Freyermuth, Frederique Rau, Yosuke Kokunai, Thomas Linke, Chantal Sellier, Masayuki Nakamori, Yoshihiro Kino, Ludovic Arandel, Arnaud Jollet, Christelle Thibault, Muriel Philipps, Serge Vicaire, Bernard Jost, Bjarne Udd, John W. Day, Denis Duboc, Karim Wahbi, Tsuyoshi Matsumura, Harutoshi Fujimura, Hideki Mochizuki, Francois Deryckere, Takashi Kimura, Nobuyuki Nukina, Shoichi Ishiura, Vincent Lacroix, Amandine Campan-Fournier, Vincent Navratil, Emilie Chautard, Didier Auboeuf, Minoru Horie, Keiji Imoto, Kuang-Yung Lee, Maurice S. Swanson, Adolfo Lopez de Munain, Shin Inada, Hideki Itoh, Kazuo Nakazawa, Takashi Ashihara, Eric Wang, Thomas Zimmer, Denis Furling, Masanori P. Takahashi, Nicolas Charlet-Berguerand

NATURE COMMUNICATIONS　Vol. 7　2016/04　Research paper (scientific journal)

Specialized long-term medical service and special needs education to support whole life of muscular dystrophy patients: Editorial

Kawai, M., Takahashi, M.

IRYO - Japanese Journal of National Medical Services　Vol. 70　No. 7　p. 305-305　2016　Research paper (scientific journal)

Myotonic dystrophy

Masayuki Nakamori, Masanori P. Takahashi

Translational Research in Muscular Dystrophy　p. 39-61　2016/01/01　Part of collection (book)

Episodic ataxia type 2 manifests as epileptiform electroencephalographic activity with no epileptic attacks in two family members

Misako Kaido, Mitsuru Furuta, Masayuki Nakamori, Yoshihito Yuasa, Masanori P. Takahashi

Clinical Neurology　Vol. 56　No. 4　p. 260-264　2016　Research paper (scientific journal)

Oral administration of erythromycin decreases RNA toxicity in myotonic dystrophy

Masayuki Nakamori, Katarzyna Taylor, Hideki Mochizuki, Krzysztof Sobczak, Masanori P. Takahashi

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY　Vol. 3　No. 1　p. 42-54　2016/01　Research paper (scientific journal)

自己免疫介在性と考えられたnew-onset refractory status epilepticusの1例

石倉 照之, 奥野 龍禎, 荒木 克哉, 高橋 正紀, 渡部 健二, 望月 秀樹

臨床神経学　Vol. 55　No. 12　p. 909-913　2015/12

Large expansion of CTG center dot CAG repeats is exacerbated by MutS beta in human cells

Rie Nakatani, Masayuki Nakamori, Harutoshi Fujimura, Hideki Mochizuki, Masanori P. Takahashi

SCIENTIFIC REPORTS　Vol. 5　2015/06　Research paper (scientific journal)

Phenotypic Variability in Childhood of Skeletal Muscle Sodium Channelopathies

Harumi Yoshinaga, Shunichi Sakoda, Takashi Shibata, Tomoyuld Aldyama, Makio Oka, Jun-Hui Yuan, Hiroshi Takashima, Masanori P. Takahashi, Tetsuro Kitamura, Nagako Murakami, Katsuhiro Kobayashi

PEDIATRIC NEUROLOGY　Vol. 52　No. 5　p. 504-508　2015/05　Research paper (scientific journal)

[A case of new-onset refractory status epilepticus (NORSE) with an autoimmune etiology].

Teruyuki Ishikura, Tatsusada Okuno, Katsuya Araki, Masanori P Takahashi, Kenji Watabe, Hideki Mochizuki

Rinsho shinkeigaku = Clinical neurology　Vol. 55　No. 12　p. 909-13　2015　Research paper (scientific journal)

筋強直性ジストロフィーにおけるCTGリピート数の差異と関連する因子についての検討

末永 浩一, 芳川 浩男, 武田 正中, 梶山 幸司, 木村 卓, 高岡 俊雄, 笠間 周平, 渡邊 将平, 大西 沙代子, 山本 麻美, 右近 紳一郎, 陣内 研二, 中森 雅之, 高橋 正紀

臨床神経学　Vol. 54　No. Suppl.　p. S210-S210　2014/12

CACNA1A新規変異を認めた反復発作性運動失調症2型の1例

木村 康義, 三原 雅史, 古田 充, 中森 雅之, 奥野 龍禎, 高橋 正紀, 大野 欽司, 望月 秀樹

臨床神経学　Vol. 54　No. 7　p. 605-605　2014/07

Efficacy of deep brain stimulation in an adolescent patient with DYT11 myoclonus-dystonia

Yasuyoshi Kimura, Masahito Mihara, Toshitaka Kawarai, Haruhiko Kishima, Norio Sakai, Masanori P. Takahashi, Hideki Mochizuki

Neurology and Clinical Neuroscience　Vol. 2　No. 2　p. 57-59　2014/03　Research paper (scientific journal)

[Myotonia and cardiac conduction defects in myotonic dystrophy and defect in ion channels].

Tomoya Kubota, Masayuki Nakamori, Masanori P Takahashi

Rinsho byori. The Japanese journal of clinical pathology　Vol. 62　No. 3　p. 246-54　2014/03　Research paper (scientific journal)

A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1

Yosuke Kokunai, Tomohiko Nakata, Mitsuru Furuta, Souhei Sakata, Hiromi Kimura, Takeshi Aiba, Masao Yoshinaga, Yusuke Osaki, Masayuki Nakamori, Hideki Itoh, Takako Sato, Tomoya Kubota, Kazushige Kadota, Katsuro Shindo, Hideki Mochizuki, Wataru Shimizu, Minoru Horie, Yasushi Okamura, Kinji Ohno, Masanori P. Takahashi

NEUROLOGY　Vol. 82　No. 12　p. 1058-1064　2014/03　Research paper (scientific journal)

脳神経領域に再発と寛解を繰り返したMultifocal motor neuropathy(MMN)の1例

三谷 祐貴子, 権 泰史, 木村 康義, 三原 雅史, 高橋 正紀, 八木田 佳樹, 中辻 裕司, 北川 一夫, 望月 秀樹

臨床神経学　Vol. 54　No. 1　p. 60-60　2014/01

Therapeutic development in myotonic dystrophy

Masanori P. Takahashi, Masayuki Nakamori, Hideki Mochizuki

Clinical Neurology　Vol. 54　No. 12　p. 1077-1079　2014　Research paper (international conference proceedings)

核上性眼球運動障害を呈し、メビウス症候群が疑われた一例

古田 充, 三原 雅史, 木村 康義, 奥野 龍禎, 高橋 正紀, 望月 秀樹

臨床神経学　Vol. 53　No. 7　p. 573-573　2013/07

Manumycin A corrects aberrant splicing of Clcn1 in myotonic dystrophy type 1 (DM1) mice

Kosuke Oana, Yoko Oma, Satoshi Suo, Masanori P. Takahashi, Ichizo Nishino, Shin'ichi Takeda, Shoichi Ishiura

SCIENTIFIC REPORTS　Vol. 3　2013/07　Research paper (scientific journal)

Ultrasound-enhanced delivery of Morpholino with Bubble liposomes ameliorates the myotonia of myotonic dystrophy model mice

Michinori Koebis, Tamami Kiyatake, Hiroshi Yamaura, Kanako Nagano, Mana Higashihara, Masahiro Sonoo, Yukiko Hayashi, Yoichi Negishi, Yoko Endo-Takahashi, Dai Yanagihara, Ryoichi Matsuda, Masanori P. Takahashi, Ichizo Nishino, Shoichi Ishiura

SCIENTIFIC REPORTS　Vol. 3　2013/07　Research paper (scientific journal)

耳クリック音をみとめたprogressive ataxia and palatal tremor(PAPT)の一例

隅蔵 大幸, 奥野 龍禎, 高橋 正紀, 荒木 克哉, 北川 一夫, 望月 秀樹

臨床神経学　Vol. 53　No. 3　p. 224-228　2013/03

小脳性運動失調と多形紅斑が共に増悪と寛解をくりかえした慢性活動性Epstein-Barrウイルス感染症の1例

荒木 克哉, 奥野 龍禎, Honorat Josephe Archie, 木下 允, 高橋 正紀, 水木 満佐央, 北川 一夫, 望月 秀樹

臨床神経学　Vol. 53　No. 2　p. 119-124　2013/02

A case of chronic active Epstein-Barr virus infection associated with recurrent cerebellar ataxia and skin eruptions

Araki, K., Okuno, T., Honorat, J.A., Kinoshita, M., Takahashi, M.P., Mizuki, M., Kitagawa, K., Mochizuki, H.

Clinical Neurology　Vol. 53　No. 2　2013　Research paper (scientific journal)

A case of progressive ataxia and palatal tremor (PAPT) with ear clicks

Sumikura, H., Okuno, T., Takahashi, M.P., Araki, K., Kitagawa, K., Mochizuki, H.

Clinical Neurology　Vol. 53　No. 3　2013　Research paper (scientific journal)

小脳性運動失調と皮疹が共に寛解と増悪を繰り返した慢性活動性EBウイルス感染症の67歳女性例

奥野 龍禎, 荒木 克哉, Honorat Josephe Archie, 木下 允, 高橋 正紀, 水木 満佐央, 北川 一夫, 望月 秀樹

NEUROINFECTION　Vol. 17　No. 2　p. 195-195　2012/10

Muscleblind-like 2-Mediated Alternative Splicing in the Developing Brain and Dysregulation in Myotonic Dystrophy

Konstantinos Charizanis, Kuang-Yung Lee, Ranjan Batra, Marianne Goodwin, Chaolin Zhang, Yuan Yuan, Lily Shiue, Melissa Cline, Marina M. Scotti, Guangbin Xia, Ashok Kumar, Tetsuo Ashizawa, H. Brent Clark, Takashi Kimura, Masanori P. Takahashi, Harutoshi Fujimura, Kenji Jinnai, Hiroo Yoshikawa, Mario Gomes-Pereira, Genevieve Gourdon, Noriaki Sakai, Seiji Nishino, Thomas C. Foster, Manuel Ares, Robert B. Darnell, Maurice S. Swanson

NEURON　Vol. 75　No. 3　p. 437-450　2012/08　Research paper (scientific journal)

A sodium channel myotonia due to a novel SCN4A mutation accompanied by acquired autoimmune myasthenia gravis

Yosuke Kokunai, Keigo Goto, Tomoya Kubota, Takaaki Fukuoka, Saburo Sakoda, Tohru Ibi, Manabu Doyu, Hideki Mochizuki, Ko Sahashi, Masanori P. Takahashi

NEUROSCIENCE LETTERS　Vol. 519　No. 1　p. 67-72　2012/06　Research paper (scientific journal)

A novel mutation in SCN4A causes severe myotonia and school-age-onset paralytic episodes

Harumi Yoshinaga, Shunichi Sakoda, Jean-Marc Good, Masanori P. Takahashi, Tomoya Kubota, Eri Arikawa-Hirasawa, Tomohiko Nakata, Kinji Ohno, Tetsuro Kitamura, Katsuhiro Kobayashi, Yoko Ohtsuka

JOURNAL OF THE NEUROLOGICAL SCIENCES　Vol. 315　No. 1-2　p. 15-19　2012/04　Research paper (scientific journal)

Muscleblind-Like 1 Knockout Mice Reveal Novel Splicing Defects in the Myotonic Dystrophy Brain

Koichi Suenaga, Kuang-Yung Lee, Masayuki Nakamori, Yoshiki Tatsumi, Masanori P. Takahashi, Harutoshi Fujimura, Kenji Jinnai, Hiroo Yoshikawa, Hongqing Du, Manuel Ares, Maurice S. Swanson, Takashi Kimura

PLOS ONE　Vol. 7　No. 3　2012/03　Research paper (scientific journal)

[A case of dysferlinopathy asymptomatic for 10 years after an episode of transient muscle weakness].

Yoshito Kobayashi, Toshiaki Takahashi, Hisae Sumi, Harutoshi Fujimura, Masashi Aoki, Masanori P Takahashi, Saburo Sakoda

Rinsho shinkeigaku = Clinical neurology　Vol. 52　No. 7　p. 495-8　2012　Research paper (scientific journal)

Myotonic dystrophy-from pathomechanism as a RNA disease to future clinical trials

Masanori P. Takahashi

Clinical Neurology　Vol. 52　No. 11　p. 1393-1396　2012　Research paper (international conference proceedings)

Myotonic dystrophy: Therapeutic approaches to RNA toxicity

Masayuki Nakamori, Masanori P. Takahashi

Brain and Nerve　Vol. 63　No. 11　p. 1161-1168　2011/11/01　Research paper (scientific journal)

A novel mutation in the calcium channel gene in a family with hypokalemic periodic paralysis

Makito Hirano, Yosuke Kokunai, Asami Nagai, Yusaku Nakamura, Kazumasa Saigoh, Susumu Kusunoki, Masanori P. Takahashi

JOURNAL OF THE NEUROLOGICAL SCIENCES　Vol. 309　No. 1-2　p. 9-11　2011/10　Research paper (scientific journal)

[A survey of cardiologists, diabetologists, gynecologists and ophthalmologists practicing in Osaka on the medical consultation behaviors of myotonic dystrophy patients].

Tsuyoshi Matsumura, Takashi Kimura, Yosuke Kokunai, Tomoya Kubota, Masanori P Takahashi, Saburo Sakoda

Rinsho shinkeigaku = Clinical neurology　Vol. 51　No. 9　p. 677-82　2011/09　Research paper (scientific journal)

Channelopathies of skeletal muscle-myotonic syndromes and periodic paralysis-

Tomoya Kubota, Ryogen Sasaki, Masanori P. Takahashi

Neurological Medicine　Vol. 75　No. 1　p. 65-74　2011/07　Research paper (scientific journal)

Misregulation of miR-1 processing is associated with heart defects in myotonic dystrophy

Frederique Rau, Fernande Freyermuth, Charlotte Fugier, Jean-Philippe Villemin, Marie-Christine Fischer, Bernard Jost, Doulaye Dembele, Genevieve Gourdon, Annie Nicole, Denis Duboc, Karim Wahbi, John W. Day, Harutoshi Fujimura, Masanori P. Takahashi, Didier Auboeuf, Natacha Dreumont, Denis Furling, Nicolas Charlet-Berguerand

NATURE STRUCTURAL & MOLECULAR BIOLOGY　Vol. 18　No. 7　p. 840-U120　2011/07　Research paper (scientific journal)

A Mutation in a Rare Type of Intron in a Sodium-Channel Gene Results in Aberrant Splicing and Causes Myotonia

Tomoya Kubota, Xavier Roca, Takashi Kimura, Yosuke Kokunai, Ichizo Nishino, Saburo Sakoda, Adrian R. Krainer, Masanori P. Takahashi

HUMAN MUTATION　Vol. 32　No. 7　p. 773-782　2011/07　Research paper (scientific journal)

Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy

Charlotte Fugier, Arnaud F. Klein, Caroline Hammer, Stephane Vassilopoulos, Ylva Ivarsson, Anne Toussaint, Valerie Tosch, Alban Vignaud, Arnaud Ferry, Nadia Messaddeq, Yosuke Kokunai, Rie Tsuburaya, Pierre de la Grange, Doulaye Dembele, Virginie Francois, Guillaume Precigout, Charlotte Boulade-Ladame, Marie-Christine Hummel, Adolfo Lopez de Munain, Nicolas Sergeant, Annie Laquerriere, Christelle Thibault, Francois Deryckere, Didier Auboeuf, Luis Garcia, Pascale Zimmermann, Bjarne Udd, Benedikt Schoser, Masanori P. Takahashi, Ichizo Nishino, Guillaume Bassez, Jocelyn Laporte, Denis Furling, Nicolas Charlet-Berguerand

NATURE MEDICINE　Vol. 17　No. 6　p. 720-U112　2011/06　Research paper (scientific journal)

The Role of Alpha-Dystrobrevin in Striated Muscle

Masayuki Nakamori, Masanori P. Takahashi

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES　Vol. 12　No. 3　p. 1660-1671　2011/03　Research paper (scientific journal)

[A case of muscle sodium channelopathy with markedly high value of serum creatine kinase and mild eyelid myotonia].

Kasama S, Kimura T, Kajiyama K, Takeda M, Takahashi MP, Yoshikawa H

Rinsho shinkeigaku = Clinical neurology　Vol. 51　No. 2　p. 120-4　2011/02　Research paper (scientific journal)

New mutation of the Na channel in the severe form of potassium-aggravated myotonia

Tomoya Kubota, Masanobu Kinoshita, Ryogen Sasaki, Futoshi Aoike, Masanori P. Takahashi, Saburo Sakoda, Kazuhiko Hirose

Muscle and Nerve　Vol. 39　No. 5　p. 666-673　2009/05　Research paper (scientific journal)

A cross-sectional study for glucose intolerance of myotonic dystrophy

Tsuyoshi Matsumura, Hiromi Iwahashi, Tohru Funahashi, Masanori P. Takahashi, Tomoko Saito, Kumiko Yasui, Toshio Saito, Akinori Iyama, Keiko Toyooka, Harutoshi Fujimura, Susumu Shinno

Journal of the Neurological Sciences　Vol. 276　No. 1-2　p. 60-65　2009/01/15　Research paper (scientific journal)

A case of paradoxical embolic stroke with hereditary angioneurotic edema

BECK Goichi, OE Hiroshi, YAMADERA Misaki, MIHARA Masahito, TAKAHASHI Masanori P, YAMAMOTO Yoichi, NAGANO Keiko, SAKAGUCHI Manabu, KITAGAWA Kazuo, SAKODA Saburo

Japanese Journal of Stroke　2008/07　Research paper (scientific journal)

Aberrantly spliced alpha-dystrobrevin alters alpha-syntrophin binding in myotonic dystrophy type 1

M. Nakamori, T. Kimura, T. Kubota, T. Matsumura, H. Sumi, H. Fujimura, M. P. Takahashi, S. Sakoda

NEUROLOGY　Vol. 70　No. 9　p. 677-685　2008/02　Research paper (scientific journal)

Molecular mechanisms responsible for aberrant splicing of SERCA1 in myotonic dystrophy type 1

Shin-ichiro Hino, Shinichi Kondo, Hiroshi Sekiya, Atsushi Saito, Soshi Kanemoto, Tomohiko Murakami, Kazuyasu Chihara, Yuri Aoki, Masayuki Nakamori, Masanori P. Takahashi, Kazunori Imaizumi

HUMAN MOLECULAR GENETICS　Vol. 16　No. 23　p. 2834-2843　2007/12　Research paper (scientific journal)

Endoplasmic reticulum stress in myotonic dystrophy type 1 muscle

Koji Ikezoe, Masayuki Nakamori, Hirokazu Furuya, Hajime Arahata, Soshi Kanemoto, Takashi Kimura, Kazunori Imaizumi, Masanori P. Takahashi, Saburo Sakoda, Naoki Fujii, Jun-Ichi Kira

Acta Neuropathologica　Vol. 114　No. 5　p. 527-535　2007/11　Research paper (scientific journal)

Altered mRNA splicing of dystrophin in type 1 myotonic dystrophy

Masayuki Nakamori, Takashi Kimura, Harutoshi Fujimura, Masanori P. Takahashi, Saburo Sakoda

Muscle and Nerve　Vol. 36　No. 2　p. 251-257　2007/08　Research paper (scientific journal)

Beneficial effect of interferon-beta treatment in patients with multiple sclerosis is associated with transient increase in serum IL-6 level in response to interferon-beta injection.

Y Nakatsuji, M Nakano, M Moriya, H Kishigami, C Tatsumi, S Tada, S Sadahiro, T Naka, K Mitani, M Funauchi, T Azuma, S Watanabe, M Kinoshita, K Kajiyama, Y Yuasa, M Kaido, M P Takahashi, I Naba, T Hazama, S Sakoda

Cytokine　Vol. 36　No. 1-2　p. 69-74　2006/10　Research paper (scientific journal)

筋強直性ジストロフィー

中森雅之, 高橋正紀, 佐古田三郎

ゲノム医学　2006/06

多発性硬化症のIFN-β療法に関する血清サイトカインの解析

中辻 裕司, 中野 美佐, 森谷 真之, 岸上 仁, 巽 千賀夫, 多田 智, 貞広 茂樹, 中 隆, 三谷 琴絵, 船内 正裕, 東 強, 渡邊 将平, 木下 允, 梶山 幸司, 湯浅 義人, 階堂 三砂子, 高橋 正紀, 那波 一郎, 狭間 敬憲, 佐古田 三郎

神経免疫学　Vol. 14　No. 1　p. 51-51　2006/03

Class Ic antiarrhythmics block human skeletal muscle Na channel during myotonia-like stimulation.

Futoshi Aoike, Masanori P Takahashi, Saburo Sakoda

European journal of pharmacology　Vol. 532　No. 1-2　p. 24-31　2006/02/17　Research paper (scientific journal)

多発性硬化症のIFNβ療法に関する血清サイトカインの解析

中辻 裕司, 中野 美佐, 岸上 仁, 巽 千賀夫, 多田 智, 貞広 茂樹, 中 隆, 森谷 真之, 三谷 琴絵, 船内 正裕, 東 強, 渡邊 将平, 木下 允, 梶山 幸司, 湯浅 義人, 階堂 三砂子, 高橋 正紀, 那波 一郎, 狭間 敬憲, 佐古田 三郎, 大阪MS臨床研究グループ

臨床神経学　Vol. 45　No. 12　p. 1036-1036　2005/12

Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1

T Kimura, M Nakamori, JD Lueck, P Pouliquin, F Aoike, H Fujimura, RT Dirksen, MP Takahashi, AF Dulhunty, S Sakoda

HUMAN MOLECULAR GENETICS　Vol. 14　No. 15　p. 2189-2200　2005/08　Research paper (scientific journal)

Erythrocyte from Duchenne muscular dystrophy is fragile

Tsuyoshi Matsumura, Masanori Takahashi, Masayuki Nakamori, Toshio Saito, Sonoko Nozaki, Harutoshi Fujimura, Susumu Shinno

Clinical Neurology　Vol. 44　No. 10　p. 695-698　2004/10　Research paper (scientific journal)

ゲノム医学から見た筋強直性ジストロフィー症の病態発生機序の解明

高橋正紀, 青池太志, 木村卓, 佐古田三郎

ゲノム医学　2004/01

Expression and distribution of a small-conductance calcium-activated potassium channel (SK3) protein in skeletal muscles from myotonic muscular dystrophy patients and congenital myotonic mice.

Takashi Kimura, Masanori P Takahashi, Harutoshi Fujimura, Saburo Sakoda

Neuroscience letters　Vol. 347　No. 3　p. 191-5　2003/08/28　Research paper (scientific journal)

Epiregulin as a Major Autocrine/Paracrine Factor Released from ERK- and p38MAPK-Activated Vascular Smooth Muscle Cells

Takahashi, M., Hayashi, K., Yoshida, K., Ohkawa, Y., Komurasaki, T., Kitabatake, A., Ogawa, A., Nishida, W., Yano, M., Monden, M., Sobue, K.

Circulation　Vol. 108　No. 20　2003　Research paper (scientific journal)

IgG抗GTla抗体及びIgG抗GQ1b抗体陽性の急性炎症性脱髄性多発根神経炎(AIDP)の一例

別宮 豪一, 青池 太志, 高橋 正紀, 阿部 和夫, 藤村 晴俊, 楠 進, 佐古田 三郎

臨床神経学　Vol. 43　No. 1〜2　p. 53-53　2003/01

Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy

Mankodi, A., Takahashi, M.P., Jiang, H., Beck, C.L., Bowers, W.J., Moxley, R.T., Cannon, S.C., Thornton, C.A.

Molecular Cell　Vol. 10　No. 1　p. 35-44　2002/07　Research paper (scientific journal)

骨格筋イオンチャネルと疾患－機能異常と病態への関与－

木村卓, 高橋正紀, 佐古田三郎

医学のあゆみ 201: 1149-1153, 2002　2002/06

A triad of serum response factor and the GATA and NK families governs the transcription of smooth and cardiac muscle genes

Nishida, W., Nakamura, M., Mori, S., Takahashi, M., Ohkawa, Y., Tadokoro, S., Yoshida, K., Hiwada, K., Hayashi, K., Sobue, K.

Journal of Biological Chemistry　Vol. 277　No. 9　2002　Research paper (scientific journal)

Mexiletine block of disease-associated mutations in S6 segments of the human skeletal muscle Na(+) channel.

M P Takahashi, S C Cannon

The Journal of physiology　Vol. 537　No. Pt 3　p. 701-14　2001/12/15　Research paper (scientific journal)

骨格筋の遺伝性チャネル異常症

高橋正紀

臨床神経生理学 29: 400-408, 2001　Vol. 29　No. 6　p. 400-408　2001/12

A new mutation in a family with cold-aggravated myotonia disrupts Na(+) channel inactivation.

F F Wu, M P Takahashi, E Pegoraro, C Angelini, P Colleselli, S C Cannon, E P Hoffman

Neurology　Vol. 56　No. 7　p. 878-84　2001/04/10　Research paper (scientific journal)

Phenotypic modulation of vascular smooth muscle cells induced by unsaturated lysophosphatidic acids

Hayashi, K., Takahashi, M., Nishida, W., Yoshida, K., Ohkawa, Y., Kitabatake, A., Aoki, J., Arai, H., Sobue, K.

Circulation Research　Vol. 89　No. 3　2001　Research paper (scientific journal)

The expression of ion channel mRNAs in skeletal muscles from patients with myotonic muscular dystrophy.

T Kimura, M P Takahashi, Y Okuda, M Kaido, H Fujimura, T Yanagihara, S Sakoda

Neuroscience letters　Vol. 295　No. 3　p. 93-6　2000/12/08　Research paper (scientific journal)

Calcium increase in mouse skeletal muscles by triparanol: a drug to induce myotonic dystrophy-like clinical manifestations.

M P Takahashi, T Kimura, T Yanagihara, S Sakoda

Neuroscience letters　Vol. 272　No. 2　p. 87-90　1999/09/10　Research paper (scientific journal)

Enhanced slow inactivation by V445M: A sodium channel mutation associated with myotonia

MP Takahashi, SC Cannon

BIOPHYSICAL JOURNAL　Vol. 76　No. 2　p. 861-868　1999/02　Research paper (scientific journal)

Changes in the balance of phosphoinositide 3-kinase/protein kinase B (Akt) and the mitogen-activated protein kinases (ERK/p38MAPK) determine a phenotype of visceral and vascular smooth muscle cells

Hayashi, K., Takahashi, M., Kimura, K., Nishida, W., Saga, H., Sobue, K.

Journal of Cell Biology　Vol. 145　No. 4　1999　Research paper (scientific journal)

Lambert-Eaton syndrome antibodies inhibit acetylcholine release and P/Q-type Ca2+ channels in electric ray nerve endings

Y Satoh, N Hirashima, H Tokumaru, MP Takahashi, J Kang, MP Viglione, YI Kim, Y Kirino

JOURNAL OF PHYSIOLOGY-LONDON　Vol. 508　No. 2　p. 427-438　1998/04　Research paper (scientific journal)

The effects of spinal fusion on respiratory function and quality of life in Duchenne muscular dystrophy

Tsuyoshi Matsumura, Jin Kang, Sonoko Nozaki, Masanori P. Takahashi

Clinical Neurology　Vol. 37　No. 2　p. 87-92　1997/02　Research paper (scientific journal)

A case of Kallmann syndrome with empty sella and arachnoid cyst

Takahashi, M.P., Miyai, I., Matsumura, T., Nozaki, S., Kang, J.

Clinical Neurology　Vol. 37　No. 8　1997　Research paper (scientific journal)

Electroglottographic studies in myasthenia gravis patients - Swallowing in exacerbation and remission stage

Nozaki, S., Matsumura, T., Takahashi, M., Miyai, I., Kang, J.

Clinical Neurology　Vol. 37　No. 9　1997　Research paper (scientific journal)

A case of idiopathic spinal cord herniation

Tsuyoshi Matsumura, Masanori P. Takahashi, Sonoko Nozaki, Jin Kang

Clinical Neurology　Vol. 36　No. 4　p. 566-570　1996/04　Research paper (scientific journal)

SYNAPTIC INPUT-INDUCED INCREASE IN INTRANEURONAL CA2+ IN THE MEDIAL VESTIBULAR NUCLEUS OF YOUNG-RATS

Y TAKAHASHI, MP TAKAHASHI, T TSUMOTO, K DOI, T MATSUNAGA

NEUROSCIENCE RESEARCH　Vol. 21　No. 1　p. 59-69　1994/11　Research paper (scientific journal)

INTRACELLULAR CALCIUM INCREASE INDUCED BY GABA IN VISUAL-CORTEX OF FETAL AND NEONATAL RATS AND ITS DISAPPEARANCE WITH DEVELOPMENT

MH LIN, MP TAKAHASHI, Y TAKAHASHI, T TSUMOTO

NEUROSCIENCE RESEARCH　Vol. 20　No. 1　p. 85-94　1994/07　Research paper (scientific journal)

Induction of LTD but not LTP through metabotropic glutamate receptors in visual cortex

H. Haruta, T. Kamishita, T. P. Hicks, M. P. Takahashi, T. Tsumoto

NeuroReport　Vol. 5　No. 14　p. 1829-1832　1994　Research paper (scientific journal)

CONTRIBUTION OF NMDA RECEPTORS TO TETANUS-INDUCED INCREASE IN POSTSYNAPTIC CA2+ IN VISUAL-CORTEX OF YOUNG-RATS

MP TAKAHASHI, M SUGIYAMA, T TSUMOTO

NEUROSCIENCE RESEARCH　Vol. 17　No. 3　p. 229-239　1993/08　Research paper (scientific journal)

LAMINAR DIFFERENCE IN TETANUS-INDUCED INCREASE OF INTRACELLULAR CA2+ IN VISUAL-CORTEX OF YOUNG-RATS

MP TAKAHASHI, M SUGIYAMA, T TSUMOTO

NEUROSCIENCE RESEARCH　Vol. 17　No. 3　p. 217-228　1993/08　Research paper (scientific journal)

MECHANISMS UNDERLYING POSTSYNAPTIC CALCIUM INCREASE INDUCED BY TETANIC SYNAPTIC INPUTS TO VISUAL CORTICAL-NEURONS OF YOUNG-RATS

T TSUMOTO, MP TAKAHASHI, MH LIN

NEUROTRANSMITTERS IN NEURONAL PLASTICITY AND PSYCHIATRIC DISORDERS　Vol. 1061　p. 36-49　1993　Research paper (international conference proceedings)