Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations
Okubo, Mariko, Minami, Narihiro, Goto, Kanako, Goto, Yuichi, Noguchi, Satoru, Mitsuhashi, Satomi, Nishino, Ichizo
Published in Journal of human genetics (01.06.2016)
Published in Journal of human genetics (01.06.2016)
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Journal Article
Pathologic Features of Anti-Mi-2 Dermatomyositis
Tanboon, Jantima, Inoue, Michio, Hirakawa, Shinya, Tachimori, Hisateru, Hayashi, Shinichiro, Noguchi, Satoru, Suzuki, Shigeaki, Okiyama, Naoko, Fujimoto, Manabu, Nishino, Ichizo
Published in Neurology (19.01.2021)
Published in Neurology (19.01.2021)
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Journal Article
A novel RyR1-selective inhibitor prevents and rescues sudden death in mouse models of malignant hyperthermia and heat stroke
Yamazawa, Toshiko, Kobayashi, Takuya, Kurebayashi, Nagomi, Konishi, Masato, Noguchi, Satoru, Inoue, Takayoshi, Inoue, Yukiko U., Nishino, Ichizo, Mori, Shuichi, Iinuma, Hiroto, Manaka, Noriaki, Kagechika, Hiroyuki, Uryash, Arkady, Adams, Jose, Lopez, Jose R., Liu, Xiaochen, Diggle, Christine, Allen, Paul D., Kakizawa, Sho, Ikeda, Keigo, Lin, Bangzhong, Ikemi, Yui, Nunomura, Kazuto, Nakagawa, Shinsaku, Sakurai, Takashi, Murayama, Takashi
Published in Nature communications (13.07.2021)
Published in Nature communications (13.07.2021)
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Journal Article
RILPL1-related OPDM is absent in a Japanese cohort
Eura, Nobuyuki, Iida, Aritoshi, Ogasawara, Masashi, Hayashi, Shinichiro, Noguchi, Satoru, Nishino, Ichizo
Published in American journal of human genetics (03.11.2022)
Published in American journal of human genetics (03.11.2022)
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Journal Article
Pharmacological activation of SERCA ameliorates dystrophic phenotypes in dystrophin-deficient mdx mice
Nogami, Ken'ichiro, Maruyama, Yusuke, Sakai-Takemura, Fusako, Motohashi, Norio, Elhussieny, Ahmed, Imamura, Michihiro, Miyashita, Satoshi, Ogawa, Megumu, Noguchi, Satoru, Tamura, Yuki, Kira, Jun-ichi, Aoki, Yoshitsugu, Takeda, Shin'ichi, Miyagoe-Suzuki, Yuko
Published in Human molecular genetics (31.05.2021)
Published in Human molecular genetics (31.05.2021)
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Journal Article
Causative variant profile of collagen VI-related dystrophy in Japan
Inoue, Michio, Saito, Yoshihiko, Yonekawa, Takahiro, Ogawa, Megumu, Iida, Aritoshi, Nishino, Ichizo, Noguchi, Satoru
Published in Orphanet journal of rare diseases (24.06.2021)
Published in Orphanet journal of rare diseases (24.06.2021)
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Journal Article
Heat-hypersensitive mutants of ryanodine receptor type 1 revealed by microscopic heating
Oyama, Kotaro, Zeeb, Vadim, Yamazawa, Toshiko, Kurebayashi, Nagomi, Kobirumaki-Shimozawa, Fuyu, Murayama, Takashi, Oyamada, Hideto, Noguchi, Satoru, Inoue, Takayoshi, Inoue, Yukiko U., Nishino, Ichizo, Harada, Yoshie, Fukuda, Norio, Ishiwata, Shin’ichi, Suzuki, Madoka
Published in Proceedings of the National Academy of Sciences - PNAS (09.08.2022)
Published in Proceedings of the National Academy of Sciences - PNAS (09.08.2022)
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Journal Article
RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy
Okubo, Mariko, Noguchi, Satoru, Awaya, Tomonari, Hosokawa, Motoyasu, Tsukui, Nobue, Ogawa, Megumu, Hayashi, Shinichiro, Komaki, Hirofumi, Mori-Yoshimura, Madoka, Oya, Yasushi, Takahashi, Yuji, Fukuyama, Tetsuhiro, Funato, Michinori, Hosokawa, Yousuke, Kinoshita, Satoru, Matsumura, Tsuyoshi, Nakamura, Sadao, Oshiro, Azusa, Terashima, Hiroshi, Nagasawa, Tetsuro, Sato, Tatsuharu, Shimada, Yumi, Tokita, Yasuko, Hagiwara, Masatoshi, Ogata, Katsuhisa, Nishino, Ichizo
Published in Human genetics (01.01.2023)
Published in Human genetics (01.01.2023)
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Journal Article
A recurrent homozygous ACTN2 variant associated with core myopathy
Inoue, Michio, Noguchi, Satoru, Sonehara, Kyuto, Nakamura-Shindo, Keiko, Taniguchi, Akira, Kajikawa, Hiroyuki, Nakamura, Hisayoshi, Ishikawa, Keiko, Ogawa, Megumu, Hayashi, Shinichiro, Okada, Yukinori, Kuru, Satoshi, Iida, Aritoshi, Nishino, Ichizo
Published in Acta neuropathologica (01.10.2021)
Published in Acta neuropathologica (01.10.2021)
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Journal Article
TMEM43 mutations in emery-dreifuss muscular dystrophy-related myopathy
Liang, Wen-Chen, Mitsuhashi, Hiroaki, Keduka, Etsuko, Nonaka, Ikuya, Noguchi, Satoru, Nishino, Ichizo, Hayashi, Yukiko K.
Published in Annals of neurology (01.06.2011)
Published in Annals of neurology (01.06.2011)
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Journal Article
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
Published in Annals of neurology (01.08.2019)
Published in Annals of neurology (01.08.2019)
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Journal Article
Calcium Dyshomeostasis in Tubular Aggregate Myopathy
Lee, Jong-Mok, Noguchi, Satoru
Published in International journal of molecular sciences (22.11.2016)
Published in International journal of molecular sciences (22.11.2016)
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Journal Article
Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice
YONEKAWA, Takahiro, MALICDAN, May Christine V, CHO, Anna, HAYASHI, Yukiko K, NONAKA, Ikuya, MINE, Toshiki, YAMAMOTO, Takeshi, NISHINO, Ichizo, NOGUCHI, Satoru
Published in Brain (London, England : 1878) (01.10.2014)
Published in Brain (London, England : 1878) (01.10.2014)
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Journal Article
Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy
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
Published in Scientific reports (16.12.2022)
Published in Scientific reports (16.12.2022)
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Journal Article
Phenotype of a limb-girdle congenital myasthenic syndrome patient carrying a GFPT1 mutation
Matsumoto, Chihiro, Mori-Yoshimura, Madoka, Noguchi, Satoru, Endo, Yukari, Oya, Yasushi, Murata, Miho, Nishino, Ichizo, Takahashi, Yuji
Published in Brain & development (Tokyo. 1979) (01.05.2019)
Published in Brain & development (Tokyo. 1979) (01.05.2019)
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Journal Article
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan
Okubo, Mariko, Goto, Kanako, Komaki, Hirofumi, Nakamura, Harumasa, Mori-Yoshimura, Madoka, Hayashi, Yukiko K, Mitsuhashi, Satomi, Noguchi, Satoru, Kimura, En, Nishino, Ichizo
Published in Orphanet journal of rare diseases (31.08.2017)
Published in Orphanet journal of rare diseases (31.08.2017)
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