The Role of Alpha-Dystrobrevin in Striated Muscle

por Nakamori, Masayuki, Takahashi, Masanori P.
Publicado 2011

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

por Nakatani, Rie, Nakamori, Masayuki, Fujimura, Harutoshi, Mochizuki, Hideki, Takahashi, Masanori P.
Publicado 2015

Oral administration of erythromycin decreases RNA toxicity in myotonic dystrophy

por Nakamori, Masayuki, Taylor, Katarzyna, Mochizuki, Hideki, Sobczak, Krzysztof, Takahashi, Masanori P.
Publicado 2015

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

por Fujino, Haruo, Saito, Toshio, Takahashi, Masanori P., Takada, Hiroto, Nakayama, Takahiro, Imura, Osamu, Matsumura, Tsuyoshi
Publicado 2022

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

por Fujiwara, Kei, Yamamoto, Risa, Kubota, Tomoya, Tazumi, Atsutoshi, Sabuta, Tomoka, Takahashi, Masanori P., Sakurai, Hidetoshi
Publicado 2022

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

por Oana, Kosuke, Oma, Yoko, Suo, Satoshi, Takahashi, Masanori P., Nishino, Ichizo, Takeda, Shin'ichi, Ishiura, Shoichi
Publicado 2013

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

por Fujino, Haruo, Suwazono, Shugo, Ueda, Yukihiko, Kobayashi, Michio, Nakayama, Takahiro, Imura, Osamu, Matsumura, Tsuyoshi, Takahashi, Masanori P.
Publicado 2023

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

por Coathup, Victoria, Teare, Harriet J. A., Minari, Jusaku, Yoshizawa, Go, Kaye, Jane, Takahashi, Masanori P., Kato, Kazuto
Publicado 2016

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

por Kubota, Tomoya, Takahashi, Satoe, Yamamoto, Risa, Sato, Ruka, Miyanooto, Aya, Yamamoto, Reina, Yamauchi, Kosuke, Homma, Kazuaki, Takahashi, Masanori P.
Publicado 2023

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

por Suenaga, Koichi, Lee, Kuang-Yung, Nakamori, Masayuki, Tatsumi, Yoshiki, Takahashi, Masanori P., Fujimura, Harutoshi, Jinnai, Kenji, Yoshikawa, Hiroo, Du, Hongqing, Ares, Manuel, Swanson, Maurice S., Kimura, Takashi
Publicado 2012

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

por 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
Publicado 2017

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

por Auxerre-Plantié, Emilie, Nakamori, Masayuki, Renaud, Yoan, Huguet, Aline, Choquet, Caroline, Dondi, Cristiana, Miquerol, Lucile, Takahashi, Masanori P, Gourdon, Geneviève, Junion, Guillaume, Jagla, Teresa, Zmojdzian, Monika, Jagla, Krzysztof
Publicado 2019

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

por Kubota, Tomoya, Wu, Fenfen, Vicart, Savine, Nakaza, Maki, Sternberg, Damien, Watanabe, Daisuke, Furuta, Mitsuru, Kokunai, Yosuke, Abe, Tatsuya, Kokubun, Norito, Fontaine, Bertrand, Cannon, Stephen C, Takahashi, Masanori P
Publicado 2020

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

por Koebis, Michinori, Kiyatake, Tamami, Yamaura, Hiroshi, Nagano, Kanako, Higashihara, Mana, Sonoo, Masahiro, Hayashi, Yukiko, Negishi, Yoichi, Endo-Takahashi, Yoko, Yanagihara, Dai, Matsuda, Ryoichi, Takahashi, Masanori P., Nishino, Ichizo, Ishiura, Shoichi
Publicado 2013

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

por Itoh, Hideki, Hisamatsu, Takashi, Tamura, Takuhisa, Segawa, Kazuhiko, Takahashi, Toshiaki, Takada, Hiroto, Kuru, Satoshi, Wada, Chizu, Suzuki, Mikiya, Suwazono, Shugo, Sasaki, Shingo, Okumura, Ken, Horie, Minoru, Takahashi, Masanori P., Matumura, Tsuyoshi
Publicado 2020

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

por 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
Publicado 2020

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

por 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
Publicado 2023

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

por 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
Publicado 2023

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

por Shimizu, Mikito, Shiraishi, Naoyuki, Tada, Satoru, Sasaki, Tsutomu, Beck, Goichi, Nagano, Seiichi, Kinoshita, Makoto, Sumi, Hisae, Sugimoto, Tomoyuki, Ishida, Yoko, Koda, Toru, Ishikura, Teruyuki, Sugiyama, Yasuko, Kihara, Keigo, Kanakura, Minami, Nakajima, Tsuneo, Takeda, Shuko, Takahashi, Masanori P., Yamashita, Toshihide, Okuno, Tatsusada, Mochizuki, Hideki
Publicado 2023

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

por 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
Publicado 2021