Works by Takahashi, Masanori P.

Results: 42

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

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 4, p. 1, doi. 10.1002/mgg3.1175

By:

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

Publication type:

Article

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

Published in:

Internal Medicine, 2022, v. 61, n. 23, p. 3589, doi. 10.2169/internalmedicine.9221-21

By:

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

Publication type:

Article

Taste disorders and alopecia in myasthenia gravis.

Published in:

BMC Neurology, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12883-024-03644-w

By:

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

Publication type:

Article

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

Published in:

Nature Structural & Molecular Biology, 2011, v. 18, n. 7, p. 840, doi. 10.1038/nsmb.2067

By:

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

Publication type:

Article

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

Published in:

Research Involvement & Engagement, 2023, v. 9, n. 1, p. 1, doi. 10.1186/s40900-023-00515-5

By:

Kogetsu, Atsushi;
Isono, Moeko;
Aikyo, Tatsuki;
Furuta, Junichi;
Goto, Dai;
Hamakawa, Nao;
Hide, Michihiro;
Hori, Risa;
Ikeda, Noriko;
Inoi, Keiko;
Kawagoe, Naomi;
Kubota, Tomoya;
Manabe, Shirou;
Matsumura, Yasushi;
Matsuyama, Koji;
Nakai, Tomoko;
Nakao, Ikuko;
Saito, Yuki;
Senoo, Midori;
Takahashi, Masanori P.

Publication type:

Article

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

Published in:

Research Involvement & Engagement, 2021, v. 7, n. 1, p. 1, doi. 10.1186/s40900-021-00253-6

By:

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

Publication type:

Article

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

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 6, p. 1083, doi. 10.3233/JND-230083

By:

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

Publication type:

Article

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

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 555, doi. 10.3233/JND-230029

By:

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

Publication type:

Article

rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences.

Published in:

Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-04370-x

By:

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

Publication type:

Article

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

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02850-y

By:

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

Publication type:

Article

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

Published in:

2022

By:

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

Publication type:

journal article

Identification of ZNF850 as a novel CTG repeat expansion-related gene in myotonic dystrophy type 1 patient-derived iPSCs.

Published in:

Human Molecular Genetics, 2025, v. 34, n. 4, p. 327, doi. 10.1093/hmg/ddae186

By:

Kamon, Masayoshi;
Wakatsuki, Shuji;
Nakamori, Masayuki;
Takahashi, Masanori P;
Mori-Yoshimura, Madoka;
Komaki, Hirofumi;
Araki, Toshiyuki

Publication type:

Article

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

Published in:

Scientific Reports, 2013, p. 1, doi. 10.1038/srep02142

By:

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

Publication type:

Article

A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia.

Published in:

Human Mutation, 2011, v. 32, n. 7, p. 773, doi. 10.1002/humu.21501

By:

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

Publication type:

Article

Endoplasmic reticulum stress in myotonic dystrophy type 1 muscle.

Published in:

Acta Neuropathologica, 2007, v. 114, n. 5, p. 527, doi. 10.1007/s00401-007-0267-9

By:

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

Publication type:

Article

A nationwide survey of episodic ataxia in Japan.

Published in:

Neurology & Clinical Neuroscience, 2021, v. 9, n. 6, p. 443, doi. 10.1111/ncn3.12550

By:

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

Publication type:

Article

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

Published in:

Neurology & Clinical Neuroscience, 2019, v. 7, n. 6, p. 354, doi. 10.1111/ncn3.12328

By:

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

Publication type:

Article

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

Published in:

Neurology & Clinical Neuroscience, 2019, v. 7, n. 2, p. 88, doi. 10.1111/ncn3.12251

By:

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

Publication type:

Article

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

Published in:

Annals of Clinical & Translational Neurology, 2024, v. 11, n. 5, p. 1338, doi. 10.1002/acn3.52051

By:

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

Publication type:

Article

Oral administration of erythromycin decreases RNA toxicity in myotonic dystrophy.

Published in:

Annals of Clinical & Translational Neurology, 2016, v. 3, n. 1, p. 42, doi. 10.1002/acn3.271

By:

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

Publication type:

Article

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

Published in:

Journal of Physiology, 2001, v. 537, n. 3, p. 701, doi. 10.1111/j.1469-7793.2001.00701.x

By:

Takahashi, Masanori P.;
Cannon, Stephen C.

Publication type:

Article

Cutoffs on severity metrics for minimal manifestations or better status in patients with generalized myasthenia gravis.

Published in:

Frontiers in Immunology, 2025, p. 1, doi. 10.3389/fimmu.2024.1502721

By:

Watanabe, Genya;
Takai, Yoshiki;
Nagane, Yuriko;
Kubota, Tomoya;
Yasuda, Manato;
Akamine, Hiroyuki;
Onishi, Yosuke;
Uzawa, Akiyuki;
Kawaguchi, Naoki;
Masuda, Masayuki;
Konno, Shingo;
Amino, Itaru;
Minami, Naoya;
Kimura, Takashi;
Samukawa, Makoto;
Sugimoto, Takamichi;
Suzuki, Yasushi;
Takahashi, Masanori P.;
Suzuki, Shigeaki;
Murai, Hiroyuki

Publication type:

Article

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

Published in:

Disability & Rehabilitation, 2024, v. 46, n. 25, p. 6169, doi. 10.1080/09638288.2024.2322035

By:

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

Publication type:

Article

The Role of Alpha-Dystrobrevin in Striated Muscle.

Published in:

International Journal of Molecular Sciences, 2011, v. 12, n. 3, p. 1660, doi. 10.3390/ijms12031660

By:

Nakamori, Masayuki;
Takahashi, Masanori P.

Publication type:

Article

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

Published in:

2016

By:

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

Publication type:

journal article

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

Published in:

Journal of Physiology, 1998, v. 508, n. 2, p. 427, doi. 10.1111/j.1469-7793.1998.427bq.x

By:

Satoh, Yasushi;
Hirashima, Naohide;
Tokumaru, Hiroshi;
Takahashi, Masanori P.;
Ang, Jin K;
Viglione, Michael P.;
Kim, Yong I.;
Kirino, Yutaka

Publication type:

Article

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

Published in:

Muscle & Nerve, 2023, v. 67, n. 5, p. 387, doi. 10.1002/mus.27799

By:

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

Publication type:

Article

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

Published in:

Muscle & Nerve, 2022, v. 66, n. 6, p. 757, doi. 10.1002/mus.27725

By:

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

Publication type:

Article

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

Published in:

2020

By:

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

Publication type:

journal article

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

Published in:

2019

By:

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

Publication type:

journal article

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

Published in:

2018

By:

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

Publication type:

journal article

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

Published in:

2018

By:

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

Publication type:

journal article

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

Published in:

Muscle & Nerve, 2009, v. 39, n. 5, p. 666, doi. 10.1002/mus.21155

By:

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

Publication type:

Article

Altered mRNA splicing of dystrophin in type 1 myotonic dystrophy.

Published in:

Muscle & Nerve, 2007, v. 36, n. 2, p. 251, doi. 10.1002/mus.20809

By:

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

Publication type:

Article

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

Published in:

European Heart Journal Open, 2024, v. 4, n. 5, p. 1, doi. 10.1093/ehjopen/oeae078

By:

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

Publication type:

Article

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

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 17, p. 5252, doi. 10.3390/jcm13175252

By:

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

Publication type:

Article

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

Published in:

Scientific Reports, 2017, p. 42522, doi. 10.1038/srep42522

By:

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

Publication type:

Article

Large expansion of CTG•CAG repeats is exacerbated by MutSβ in human cells.

Published in:

Scientific Reports, 2015, p. 11020, doi. 10.1038/srep11020

By:

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

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2007, v. 16, n. 23, p. 2834, doi. 10.1093/hmg/ddm239

By:

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

Publication type:

Article

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

Published in:

PLoS ONE, 2012, v. 7, n. 3, p. 1, doi. 10.1371/journal.pone.0033218

By:

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

Publication type:

Article

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

Published in:

2020

By:

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;
Takahashi, Masanori P.;
Tsuyoshi Matumura;
Itoh, Hideki;
Hisamatsu, Takashi;
Tamura, Takuhisa;
Segawa, Kazuhiko;
Takahashi, Toshiaki

Publication type:

journal article

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

Published in:

Human Molecular Genetics, 2005, v. 14, n. 15, p. 2189, doi. 10.1093/hmg/ddi223

By:

Kimura, Takashi;
Nakamori, Masayuki;
Lueck, John D.;
Pouliquin, Pierre;
Aoike, Futoshi;
Fujimura, Harutoshi;
Dirksen, Robert T.;
Takahashi, Masanori P.;
Dulhunty, Angela F.;
Sakoda, Saburo

Publication type:

Article