Muscle Weakness and Fibrosis Due to Cell Autonomous and Non-cell Autonomous Events in Collagen VI Deficient Congenital Muscular Dystrophy

por Noguchi, Satoru, Ogawa, Megumu, Malicdan, May Christine, Nonaka, Ikuya, Nishino, Ichizo
Publicado 2016

A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy

por Ishiyama, Akihiko, Iida, Aritoshi, Hayashi, Shinichiro, Komaki, Hirofumi, Sasaki, Masayuki, Nonaka, Ikuya, Noguchi, Satoru, Nishino, Ichizo
Publicado 2018

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

Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy

por Ogasawara, Masashi, Eura, Nobuyuki, Iida, Aritoshi, Kumutpongpanich, Theerawat, Minami, Narihiro, Nonaka, Ikuya, Hayashi, Shinichiro, Noguchi, Satoru, Nishino, Ichizo
Publicado 2022

Rimmed Vacuoles in Becker Muscular Dystrophy Have Similar Features with Inclusion Myopathies

por Momma, Kazunari, Noguchi, Satoru, Malicdan, May Christine V., Hayashi, Yukiko K., Minami, Narihiro, Kamakura, Keiko, Nonaka, Ikuya, Nishino, Ichizo
Publicado 2012

A nationwide survey on Marinesco-Sjögren syndrome in Japan

por Goto, Masahide, Okada, Mari, Komaki, Hirofumi, Sugai, Kenji, Sasaki, Masayuki, Noguchi, Satoru, Nonaka, Ikuya, Nishino, Ichizo, Hayashi, Yukiko K
Publicado 2014

MKBP, a Novel Member of the Small Heat Shock Protein Family, Binds and Activates the Myotonic Dystrophy Protein Kinase

por Suzuki, Atsushi, Sugiyama, Yuki, Hayashi, Yukiko, Nyu-i, Nobuo, Yoshida, Michihiko, Nonaka, Ikuya, Ishiura, Sho-ichi, Arahata, Kiichi, Ohno, Shigeo
Publicado 1998

Three novel MTM1 pathogenic variants identified in Japanese patients with X‐linked myotubular myopathy

por Nishikawa, Atsuko, Iida, Aritoshi, Hayashi, Shinichiro, Okubo, Mariko, Oya, Yasushi, Yamanaka, Gaku, Takahashi, Ikuko, Nonaka, Ikuya, Noguchi, Satoru, Nishino, Ichizo
Publicado 2019

Milder forms of muscular dystrophy associated with POMGNT2 mutations

por Endo, Yukari, Dong, Mingrui, Noguchi, Satoru, Ogawa, Megumu, Hayashi, Yukiko K., Kuru, Satoshi, Sugiyama, Kenji, Nagai, Shigehiro, Ozasa, Shiro, Nonaka, Ikuya, Nishino, Ichizo
Publicado 2015

A Nationwide Survey on Danon Disease in Japan

por Sugie, Kazuma, Komaki, Hirofumi, Eura, Nobuyuki, Shiota, Tomo, Onoue, Kenji, Tsukaguchi, Hiroyasu, Minami, Narihiro, Ogawa, Megumu, Kiriyama, Takao, Kataoka, Hiroshi, Saito, Yoshihiko, Nonaka, Ikuya, Nishino, Ichizo
Publicado 2018

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

Novel TK2 mutations as a cause of delayed muscle maturation in mtDNA depletion syndrome

por Termglinchan, Thanes, Hisamatsu, Seito, Ohmori, Junko, Suzumura, Hiroshi, Sumitomo, Noriko, Imataka, George, Arisaka, Osamu, Murakami, Nobuyuki, Minami, Narihiro, Akihiko, Ishiyama, Sasaki, Masayuki, Goto, Yuichi, Noguchi, Satoru, Nonaka, Ikuya, Mitsuhashi, Satomi, Nishino, Ichizo
Publicado 2016

Changes in mitochondrial homeostasis and redox status in astronauts following long stays in space

por Indo, Hiroko P., Majima, Hideyuki J., Terada, Masahiro, Suenaga, Shigeaki, Tomita, Kazuo, Yamada, Shin, Higashibata, Akira, Ishioka, Noriaki, Kanekura, Takuro, Nonaka, Ikuya, Hawkins, Clare L., Davies, Michael J., Clair, Daret K. St, Mukai, Chiaki
Publicado 2016

IBA57 mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy

por Ishiyama, Akihiko, Sakai, Chika, Matsushima, Yuichi, Noguchi, Satoru, Mitsuhashi, Satomi, Endo, Yukari, Hayashi, Yukiko K., Saito, Yoshiaki, Nakagawa, Eiji, Komaki, Hirofumi, Sugai, Kenji, Sasaki, Masayuki, Sato, Noriko, Nonaka, Ikuya, Goto, Yu-ichi, Nishino, Ichizo
Publicado 2017

CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations

por Ogasawara, Masashi, Iida, Aritoshi, Kumutpongpanich, Theerawat, Ozaki, Ayami, Oya, Yasushi, Konishi, Hirofumi, Nakamura, Akinori, Abe, Ryuta, Takai, Hiroshi, Hanajima, Ritsuko, Doi, Hiroshi, Tanaka, Fumiaki, Nakamura, Hisayoshi, Nonaka, Ikuya, Wang, Zhaoxia, Hayashi, Shinichiro, Noguchi, Satoru, Nishino, Ichizo
Publicado 2020