未登录Ubiquitin Ligase Cbl-b Is a Negative Regulator for Insulin-Like Growth Factor 1 Signaling during Muscle Atrophy Caused by Unloading
Nakao, Reiko; Hirasaka, Katsuya; Goto, Jumpei; Ishidoh, Kazumi; Yamada, Chiharu; Ohno, Ayako; Okumura, Yuushi; Nonaka, Ikuya; Yasutomo, Koji; Baldwin, Kenneth M.; Kominami, Eiki; Higashibata, Akira; Nagano, Keisuke; Tanaka, Keiji; Yasui, Natsuo; Mills, Edward M.; Takeda, Shin'ichi; Nikawa, Takeshi
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收藏Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy
Bonora, Elena; Chakrabarty, Sanjiban; Kellaris, Georgios; Tsutsumi, Makiko; Bianco, Francesca; Bergamini, Christian; Ullah, Farid; Isidori, Federica; Liparulo, Irene; Diquigiovanni, Chiara; Masin, Luca; Rizzardi, Nicola; Cratere, Mariapia Giuditta; Boschetti, Elisa; Papa, Valentina; Maresca, Alessandra; Cenacchi, Giovanna; Casadio, Rita; Martelli, Pierluigi; Matera, Ivana; Ceccherini, Isabella; Fato, Romana; Raiola, Giuseppe; Arrigo, Serena; Signa, Sara; Sementa, Angela Rita; Severino, Mariasavina; Striano, Pasquale; Fiorillo, Chiara; Goto, Tsuyoshi; Uchino, Shumpei; Oyazato, Yoshinobu; Nakamura, Hisayoshi; Mishra, Sushil K.; Yeh, Yu-Sheng; Kato, Takema; Nozu, Kandai; Tanboon, Jantima; Morioka, Ichiro; Nishino, Ichizo; Toda, Tatsushi; Goto, Yu-ichi; Ohtake, Akira; Kosaki, Kenjiro; Yamaguchi, Yoshiki; Nonaka, Ikuya; Iijima, Kazumoto; Mimaki, Masakazu; Kurahashi, Hiroki; Raams, Anja; MacInnes, Alyson; Alders, Mariel; Engelen, Marc; Linthorst, Gabor; de Koning, Tom; den Dunnen, Wilfred; Dijkstra, Gerard; van Spaendonck, Karin; van Gent, Dik C.; Aronica, Eleonora M.; Picco, Paolo; Carelli, Valerio; Seri, Marco; Katsanis, Nicholas; Duijkers, Floor A. M.; Taniguchi-Ikeda, Mariko; De Giorgio, Roberto
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收藏CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations
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
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收藏ADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical features
Saito, Yoshihiko; Nishikawa, Atsuko; Iida, Aritoshi; Mori-Yoshimura, Madoka; Oya, Yasushi; Ishiyama, Akihiko; Komaki, Hirofumi; Nakamura, Seigo; Fujikawa, Susumu; Kanda, Takashi; Yamadera, Misaki; Sakiyama, Hiroshi; Hayashi, Shinichiro; Nonaka, Ikuya; Noguchi, Satoru; Nishino, Ichizo
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收藏COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency
Inoue, Michio; Uchino, Shumpei; Iida, Aritoshi; Noguchi, Satoru; Hayashi, Shinichiro; Takahashi, Tsutomu; Fujii, Katsunori; Komaki, Hirofumi; Takeshita, Eri; Nonaka, Ikuya; Okada, Yukinori; Yoshizawa, Takuya; Van Lommel, Leentje; Schuit, Frans; Goto, Yu-ichi; Mimaki, Masakazu; Nishino, Ichizo
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收藏&ITIBA57&IT mutations abrogate iron-sulfur cluster assembly to cavitating leukoencephalopathy
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
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收藏Clinical features and management of danon disease in Japan: A nationwide survey
Sugie, K.; Komaki, H.; Onoue, K.; Eura, N.; Shiota, T.; Tsukaguchi, H.; Namatame, S.; Koito, H.; Kiriyama, T.; Saito, Y.; Ugawa, Y.; Ueno, S.; Nonaka, I.; Nishino, I.
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收藏Biallelic mutations in MYPN cause childhood-onset, slowly progressive nemaline myopathy
Miyatake, S.; Mitsuhashi, S.; Hayashi, Y.; Nishikawa, A.; Suzuki, M.; Yatabe, K.; Tanaka, Y.; Ogata, K.; Kuru, S.; Nonaka, I.; Nishino, I.; Matsumoto, N.
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收藏Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy
Miyatake, Satoko; Mitsuhashi, Satomi; Hayashi, Yukiko K.; Purevjav, Enkhsaikhan; Nishikawa, Atsuko; Koshimizu, Eriko; Suzuki, Mikiya; Yatabe, Kana; Tanaka, Yuzo; Ogata, Katsuhisa; Kuru, Satoshi; Shiina, Masaaki; Tsurusaki, Yoshinori; Nakashima, Mitsuko; Mizuguchi, Takeshi; Miyake, Noriko; Saitsu, Hirotomo; Ogata, Kazuhiro; Kawai, Mitsuru; Towbin, Jeffrey; Nonaka, Ikuya; Nishino, Ichizo; Matsumoto, Naomichi
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收藏Changes in mitochondrial homeostasis and redox status in astronauts following long stays in space
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.; St Clair, Daret K.; Mukai, Chiaki
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收藏Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure
Uruha, Akinori; Hayashi, Yukiko K.; Oya, Yasushi; Mori-Yoshimura, Madoka; Kanai, Masahiro; Murata, Miho; Kawamura, Mayumi; Ogata, Katsuhisa; Matsumura, Tsuyoshi; Suzuki, Shigeaki; Takahashi, Yukako; Kondo, Takayuki; Kawarabayashi, Takeshi; Ishii, Yuko; Kokubun, Norito; Yokoi, Satoshi; Yasuda, Rei; Kira, Jun-ichi; Mitsuhashi, Satomi; Noguchi, Satoru; Nonaka, Ikuya; Nishino, Ichizo
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收藏Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca2+ channels
Endo, Yukari; Noguchi, Satoru; Hara, Yuji; Hayashi, Yukiko K.; Motomura, Kazushi; Miyatake, Satoko; Murakami, Nobuyuki; Tanaka, Satsuki; Yamashita, Sumimasa; Kizu, Rika; Bamba, Masahiro; Goto, Yu-ichi; Matsumoto, Naomichi; Nonaka, Ikuya; Nishino, Ichizo
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