Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy

por Okubo, Mariko, Noguchi, Satoru, Hayashi, Shinichiro, Nakamura, Harumasa, Komaki, Hirofumi, Matsuo, Masafumi, Nishino, Ichizo
Publicado 2020

Trends in steroid therapy for Duchenne muscular dystrophy in Japan

por Takeuchi, Fumi, Komaki, Hirofumi, Nakamura, Harumasa, Yonemoto, Naohiro, Kashiwabara, Kousuke, Kimura, En, Takeda, Shin'ichi
Publicado 2016

Clinical and genetic analysis of the first known Asian family with myotonic dystrophy type 2

por Nakayama, Takahiro, Nakamura, Harumasa, Oya, Yasushi, Kimura, Takashi, Imahuku, Ichiro, Ohno, Kinji, Nishino, Ichizo, Abe, Koji, Matsuura, Tohru
Publicado 2014

Nationwide patient registry for GNE myopathy in Japan

por Mori-Yoshimura, Madoka, Hayashi, Yukiko K, Yonemoto, Naohiro, Nakamura, Harumasa, Murata, Miho, Takeda, Shin’ichi, Nishino, Ichizo, Kimura, En
Publicado 2014

Clinical trial network for the promotion of clinical research for rare diseases in Japan: muscular dystrophy clinical trial network

por Shimizu, Reiko, Ogata, Katsuhisa, Tamaura, Akemi, Kimura, En, Ohata, Maki, Takeshita, Eri, Nakamura, Harumasa, Takeda, Shin’ichi, Komaki, Hirofumi
Publicado 2016

Pregnancy in GNE myopathy patients: a nationwide repository survey in Japan

por Yoshioka, Wakako, Miyasaka, Naoyuki, Okubo, Ryo, Shimizu, Reiko, Takahashi, Yuji, Oda, Yuriko, Nishino, Ichizo, Nakamura, Harumasa, Mori-Yoshimura, Madoka
Publicado 2020

Questionnaire survey on the impact of coronavirus disease 2019 on patients with muscular dystrophy

por Matsumura, Tsuyoshi, Saito, Toshio, Takada, Hiroto, Ogata, Katsuhisa, Kuru, Satoshi, Nakamura, Akinori, Arahata, Hajime, Matsuura, Tohru, Takahashi, Masanori, Nakamura, Harumasa
Publicado 2021

Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan

por Okubo, Mariko, Goto, Kanako, Komaki, Hirofumi, Nakamura, Harumasa, Mori-Yoshimura, Madoka, Hayashi, Yukiko K., Mitsuhashi, Satomi, Noguchi, Satoru, Kimura, En, Nishino, Ichizo
Publicado 2017

Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy)

por Nakamura, Harumasa, Kimura, En, Mori-Yoshimura, Madoka, Komaki, Hirofumi, Matsuda, Yu, Goto, Kanako, Hayashi, Yukiko K, Nishino, Ichizo, Takeda, Shin‘ichi, Kawai, Mitsuru
Publicado 2013

Systemic administration of the antisense oligonucleotide NS‐089/NCNP‐02 for skipping of exon 44 in patients with Duchenne muscular dystrophy: Study protocol for a phase I/II clinic...

por Ishizuka, Takami, Komaki, Hirofumi, Asahina, Yasuko, Nakamura, Harumasa, Motohashi, Norio, Takeshita, Eri, Shimizu‐Motohashi, Yuko, Ishiyama, Akihiko, Yonee, Chihiro, Maruyama, Shinsuke, Hida, Eisuke, Aoki, Yoshitsugu
Publicado 2023

Prednisolone improves walking in Japanese Duchenne muscular dystrophy patients

por Takeuchi, Fumi, Yonemoto, Naohiro, Nakamura, Harumasa, Shimizu, Reiko, Komaki, Hirofumi, Mori-Yoshimura, Madoka, Hayashi, Yukiko K., Nishino, Ichizo, Kawai, Mitsuru, Kimura, En, Takeda, Shin’ichi
Publicado 2013

First-in-human clinical trial of the NKT cell-stimulatory glycolipid OCH in multiple sclerosis

por Sato, Wakiro, Noto, Daisuke, Araki, Manabu, Okamoto, Tomoko, Lin, Youwei, Yamaguchi, Hiromi, Kadowaki-Saga, Ryoko, Kimura, Atsuko, Kimura, Yukio, Sato, Noriko, Ishizuka, Takami, Nakamura, Harumasa, Miyake, Sachiko, Yamamura, Takashi
Publicado 2023

Characteristics of Japanese Patients with Becker Muscular Dystrophy and Intermediate Muscular Dystrophy in a Japanese National Registry of Muscular Dystrophy (Remudy): Heterogeneit...

por Mori-Yoshimura, Madoka, Mitsuhashi, Satomi, Nakamura, Harumasa, Komaki, Hirofumi, Goto, Kanako, Yonemoto, Naohiro, Takeuchi, Fumi, Hayashi, Yukiko K., Murata, Miho, Takahashi, Yuji, Nishino, Ichizo, Takeda, Shin’ichi, Kimura, En
Publicado 2018

Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy

por Yoshioka, Wakako, Iida, Aritoshi, Sonehara, Kyuto, Yamamoto, Kazuki, Oya, Yasushi, Mori-Yoshimura, Madoka, Kurashige, Takashi, Okubo, Mariko, Ogawa, Megumu, Matsuda, Fumihiko, Higasa, Koichiro, Hayashi, Shinichiro, Nakamura, Harumasa, Sekijima, Masakazu, Okada, Yukinori, Noguchi, Satoru, Nishino, Ichizo
Publicado 2022

Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task Force

por Nabbout, Rima, Zanello, Galliano, Baker, Dixie, Black, Lora, Brambilla, Isabella, Buske, Orion J., Conklin, Laurie S., Davies, Elin Haf, Julkowska, Daria, Kim, Yeonju, Klopstock, Thomas, Nakamura, Harumasa, Nielsen, Kim G., Pariser, Anne R., Pastor, Jose Carlos, Scarpa, Maurizio, Smith, Maureen, Taruscio, Domenica, Groft, Stephen
Publicado 2023

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

por Matsumura, Tsuyoshi, Takada, Hiroto, Kobayashi, Michio, Nakajima, Takashi, Ogata, Katsuhisa, Nakamura, Akinori, Funato, Michinori, Kuru, Satoshi, Komai, Kiyonobu, Futamura, Naonobu, Adachi, Yoshiki, Arahata, Hajime, Fukudome, Takayasu, Ishizaki, Masatoshi, Suwazono, Shugo, Aoki, Masashi, Matsuura, Tohru, Takahashi, Masanori P., Sunada, Yoshihide, Hanayama, Kouzou, Hashimoto, Hiroya, Nakamura, Harumasa
Publicado 2021