Muscleblind-like 2-Mediated Alternative Splicing in the Developing Brain and Dysregulation in Myotonic Dystrophy
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Published in Neuron (Cambridge, Mass.) (09.08.2012)
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A Mild Clinical Phenotype with Myopathic and Hemolytic Forms of Phosphoglycerate Kinase Deficiency (PGK Osaka): A Case Report and Literature Review
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Published in Internal Medicine (01.12.2022)
Published in Internal Medicine (01.12.2022)
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Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy
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Published in Nature communications (11.04.2016)
Published in Nature communications (11.04.2016)
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rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences
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, Fujimura, Harutoshi, Takahashi, Masanori P., Schoser, Benedikt, Furling, Denis, Artero, Ruben, Allain, Frédéric H. T., Llamusi, Beatriz, Charlet-Berguerand, Nicolas
Published in Nature communications (22.05.2018)
Published in Nature communications (22.05.2018)
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Muscleblind-like 1 knockout mice reveal novel splicing defects in the myotonic dystrophy brain
Suenaga, Koichi, Lee, Kuang-Yung, Nakamori, Masayuki, Tatsumi, Yoshiki, Takahashi, Masanori P, Fujimura, Harutoshi, Jinnai, Kenji, Yoshikawa, Hiroo, Du, Hongqing, Ares, Jr, Manuel, Swanson, Maurice S, Kimura, Takashi
Published in PloS one (13.03.2012)
Published in PloS one (13.03.2012)
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Metabolic complications in myotonic dystrophy type 1: A cross-sectional survey using the National Registry of Japan
Hama, Manami, Horie, Riho, Kubota, Tomoya, Matsumura, Tsuyoshi, Kimura, En, Nakamura, Harumasa, Takahashi, Masanori P., Takada, Hiroto
Published in Journal of the neurological sciences (15.08.2021)
Published in Journal of the neurological sciences (15.08.2021)
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EF hand‐like motif mutations of Nav1.4 C‐terminus cause myotonic syndrome by impairing fast inactivation
Horie, Riho, Kubota, Tomoya, Koh, Jinsoo, Tanaka, Rieko, Nakamura, Yuichiro, Sasaki, Ryogen, Ito, Hidefumi, Takahashi, Masanori P.
Published in Muscle & nerve (01.06.2020)
Published in Muscle & nerve (01.06.2020)
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Optical measurement of gating pore currents in hypokalemic periodic paralysis model cells
Kubota, Tomoya, Takahashi, Satoe, Yamamoto, Risa, Sato, Ruka, Miyanooto, Aya, Yamamoto, Reina, Yamauchi, Kosuke, Homma, Kazuaki, Takahashi, Masanori P
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Efficacy confirmation study of aceneuramic acid administration for GNE myopathy in Japan
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
Published in Orphanet journal of rare diseases (11.08.2023)
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Characteristics of myotonic dystrophy patients in the national registry of Japan
Sugimoto, Marika, Kuru, Satoshi, Takada, Hiroto, Horie, Riho, Yamauchi, Kosuke, Kubota, Tomoya, Matsumura, Tsuyoshi, Nakamura, Harumasa, Kimura, En, Takahashi, Masanori P.
Published in Journal of the neurological sciences (15.01.2022)
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Myotonic dystrophy type 1 patient-derived iPSCs for the investigation of CTG repeat instability
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
Published in Scientific reports (13.02.2017)
Published in Scientific reports (13.02.2017)
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Olson, J.E., Bielinski, S.J., Ryu, E., Winkler, E.M., Takahashi, P.Y., Pathak, J., Cerhan, J.R.
Published in Clinical genetics (01.07.2014)
Published in Clinical genetics (01.07.2014)
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Aberrant Myokine Signaling in Congenital Myotonic Dystrophy
Nakamori, Masayuki, Hamanaka, Kohei, Thomas, James D., Wang, Eric T., Hayashi, Yukiko K., Takahashi, Masanori P., Swanson, Maurice S., Nishino, Ichizo, Mochizuki, Hideki
Published in Cell reports (Cambridge) (31.10.2017)
Published in Cell reports (Cambridge) (31.10.2017)
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Expanded CUG Repeats Trigger Aberrant Splicing of ClC-1 Chloride Channel Pre-mRNA and Hyperexcitability of Skeletal Muscle in Myotonic Dystrophy
Mankodi, Ami, Takahashi, Masanori P., Jiang, Hong, Beck, Carol L., Bowers, William J., Moxley, Richard T., Cannon, Stephen C., Thornton, Charles A.
Published in Molecular cell (01.07.2002)
Published in Molecular cell (01.07.2002)
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Taste disorders and alopecia in myasthenia gravis
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
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Published in BMC neurology (25.04.2024)
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Kubota, Tomoya, Nabatame, Shin, Sato, Ruka, Hama, Manami, Nishiike, Ujiakira, Mochizuki, Hideki, Takahashi, Masanori P., Takeshima, Takao
Published in Brain & development (Tokyo. 1979) (01.10.2021)
Published in Brain & development (Tokyo. 1979) (01.10.2021)
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The myotonic dystrophy health index: Japanese adaption and validity testing
Mori, Itsuki, Fujino, Haruo, Matsumura, Tsuyoshi, Takada, Hiroto, Ogata, Katsuhisa, Nakamori, Masayuki, Innami, Keisuke, Shingaki, Honoka, Imura, Osamu, Takahashi, Masanori P., Heatwole, Chad
Published in Muscle & nerve (01.05.2019)
Published in Muscle & nerve (01.05.2019)
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Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1
Kimura, Takashi, Nakamori, Masayuki, Lueck, John D., Pouliquin, Pierre, Aoike, Futoshi, Fujimura, Harutoshi, Dirksen, Robert T., Takahashi, Masanori P., Dulhunty, Angela F., Sakoda, Saburo
Published in Human molecular genetics (01.08.2005)
Published in Human molecular genetics (01.08.2005)
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