Lung Insufflation Capacity with a New Device in Amyotrophic Lateral Sclerosis: Measurement of the Lung Volume Recruitment in Respiratory Therapy

por Yorimoto, Keisuke, Ariake, Yosuke, Saotome, Takako, Mori-yoshimura, Madoka, Tsukamoto, Tadashi, Takahashi, Yuji, Kobayashi, Yoko
Publicado 2020

Long-term evaluation parameters in GNE myopathy: a 5-year observational follow-up natural history study

por Mori-Yoshimura, Madoka, Yajima, Hiroyuki, Oya, Yasushi, Mizuno, Katsuhiro, Noguchi, Satoru, Nishino, Ichizo, Takahashi, Yuji
Publicado 2022

Cardiopulmonary dysfunction in patients with limb‐girdle muscular dystrophy 2A

por Mori‐Yoshimura, Madoka, Segawa, Kazuhiko, Minami, Narihiro, Oya, Yasushi, Komaki, Hirohumi, Nonaka, Ikuya, Nishino, Ichizo, Murata, Miho
Publicado 2016

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

Cardiac conduction disturbances and aging in patients with Duchenne muscular dystrophy

por Segawa, Kazuhiko, Komaki, Hirofumi, Mori-Yoshimura, Madoka, Oya, Yasushi, Kimura, Koichi, Tachimori, Hisateru, Kato, Naohiro, Sasaki, Masayuki, Takahashi, Yuji
Publicado 2017

Severe cardiac involvement with preserved truncated dystrophin expression in Becker muscular dystrophy by +1G>A DMD splice-site mutation: a case report

por Komaki, Ryouhei, Hashimoto, Yasumasa, Mori-Yoshimura, Madoka, Oya, Yasushi, Takizawa, Hotake, Minami, Narihiro, Nishino, Ichizo, Aoki, Yoshitsugu, Takahashi, Yuji
Publicado 2020

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

Long-term Observation in Patients with Duchenne Muscular Dystrophy with Early Introduction of a Standing Program Using Knee–ankle–foot Orthoses

por Fujimoto, Akiko, Mizuno, Katsuhiro, Iwata, Yasuyuki, Yajima, Hiroyuki, Nishida, Daisuke, Komaki, Hirofumi, Ishiyama, Akihiko, Mori-yoshimura, Madoka, Tachimori, Hisateru, Kobayashi, Yoko
Publicado 2023

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

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

Brain gray matter structural network in myotonic dystrophy type 1

por Sugiyama, Atsuhiko, Sone, Daichi, Sato, Noriko, Kimura, Yukio, Ota, Miho, Maikusa, Norihide, Maekawa, Tomoko, Enokizono, Mikako, Mori-Yoshimura, Madoka, Ohya, Yasushi, Kuwabara, Satoshi, Matsuda, Hiroshi
Publicado 2017

Two novel VCP missense variants identified in Japanese patients with multisystem proteinopathy

por Inoue, Michio, Iida, Aritoshi, Hayashi, Shinichiro, Mori-Yoshimura, Madoka, Nagaoka, Atsushi, Yoshimura, Shunsuke, Shiraishi, Hirokazu, Tsujino, Akira, Takahashi, Yuji, Nonaka, Ikuya, Hayashi, Yukiko K., Noguchi, Satoru, Nishino, Ichizo
Publicado 2018

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

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

Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencing

por Hiramuki, Yosuke, Kure, Yuriko, Saito, Yoshihiko, Ogawa, Megumu, Ishikawa, Keiko, Mori-Yoshimura, Madoka, Oya, Yasushi, Takahashi, Yuji, Kim, Dae-Seong, Arai, Noriko, Mori, Chiaki, Matsumura, Tsuyoshi, Hamano, Tadanori, Nakamura, Kenichiro, Ikezoe, Koji, Hayashi, Shinichiro, Goto, Yuichi, Noguchi, Satoru, Nishino, Ichizo
Publicado 2022

Multicenter questionnaire survey for sporadic inclusion body myositis in Japan

por Suzuki, Naoki, Mori-Yoshimura, Madoka, Yamashita, Satoshi, Nakano, Satoshi, Murata, Ken-ya, Inamori, Yukie, Matsui, Naoko, Kimura, En, Kusaka, Hirofumi, Kondo, Tomoyoshi, Higuchi, Itsuro, Kaji, Ryuji, Tateyama, Maki, Izumi, Rumiko, Ono, Hiroya, Kato, Masaaki, Warita, Hitoshi, Takahashi, Toshiaki, Nishino, Ichizo, Aoki, Masashi
Publicado 2016

Pediatric necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibodies

por Liang, Wen-Chen, Uruha, Akinori, Suzuki, Shigeaki, Murakami, Nobuyuki, Takeshita, Eri, Chen, Wan-Zi, Jong, Yuh-Jyh, Endo, Yukari, Komaki, Hirofumi, Fujii, Tatsuya, Kawano, Yutaka, Mori-Yoshimura, Madoka, Oya, Yasushi, Xi, Jianying, Zhu, Wenhua, Zhao, Chongbo, Watanabe, Yurika, Ikemoto, Keisuke, Nishikawa, Atsuko, Hamanaka, Kohei, Mitsuhashi, Satomi, Suzuki, Norihiro, Nishino, Ichizo
Publicado 2017