Social difficulties and care burden of adult Duchenne muscular dystrophy in Japan: a questionnaire survey based on the Japanese Registry of Muscular Dystrophy (Remudy) von Mori-Yoshimura, Madoka, Ishigaki, Keiko, Shimizu-Motohashi, Yuko, Ishihara, Naoko, Unuma, Atushi, Yoshida, Sumiko, Nakamura, Harumasa

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Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy von Sakamoto, Masamune, Iwama, Kazuhiro, Sekiguchi, Futoshi, Mashimo, Hideaki, Kumada, Satoko, Ishigaki, Keiko, Okamoto, Nobuhiko, Behnam, Mahdiyeh, Ghadami, Mohsen, Koshimizu, Eriko, Miyatake, Satoko, Mitsuhashi, Satomi, Mizuguchi, Takeshi, Takata, Atsushi, Saitsu, Hirotomo, Miyake, Noriko, Matsumoto, Naomichi

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Author Correction: Efficacy of steroid therapy for Fukuyama congenital muscular dystrophy von Murakami, Terumi, Sato, Takatoshi, Adachi, Michiru, Ishiguro, Kumiko, Shichiji, Minobu, Tachimori, Hisateru, Nagata, Satoru, Ishigaki, Keiko

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Cross-sectional Study of the Association between Plasma Brain Natriuretic Peptide Levels and Left Ventricular Shortening Fraction in Fukuyama Congenital Muscular Dystrophy von Sato, Takatoshi, Kihara, Yuki, Ishiguro, Kumiko, Shichiji, Minobu, Murakami, Terumi, Nagata, Satoru, Shimada, Eriko, Inai, Kei, Takeda, Atsuhito, Ishigaki, Keiko

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Laminin-221-derived recombinant fragment facilitates isolation of cultured skeletal myoblasts von Kihara, Yuki, Homma, Jun, Takagi, Ryo, Ishigaki, Keiko, Nagata, Satoru, Yamato, Masayuki

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Infection-associated decrease of serum creatine kinase levels in Fukuyama congenital muscular dystrophy von Takeshita, Saoko, Saito, Yoshiaki, Oyama, Yoshitaka, Watanabe, Yoshihiro, Ikeda, Azusa, Iai, Mizue, Sato, Takatoshi, Ishigaki, Keiko, Ito, Shu-ichi

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S7-4. Clinical characteristics of patients with juvenile childhood-onset myasthenia gravis von Ishigaki, Keiko

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Potential patient screening for late-onset Pompe disease in suspected sleep apnea: a rationale and study design for a Prospective Multicenter Observational Cohort Study in Japan (P... von Yamauchi, Motoo, Nakayama, Hideaki, Shiota, Satomi, Ohshima, Yasuyoshi, Terada, Jiro, Nishijima, Tsuguo, Kosuga, Motomichi, Kitamura, Takuro, Tachibana, Naoko, Oguri, Takuya, Shirahama, Ryutaro, Aoki, Yasuhiro, Ishigaki, Keiko, Sugie, Kazuma, Yagi, Tomoko, Muraki, Hisae, Fujita, Yukio, Takatani, Tsunenori, Muro, Shigeo

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The Clinical Course and Treatment of a Case of Refractory Systemic Juvenile Myasthenia Gravis Successfully Treated with Thymectomy von Shibuya, Moriei, Shichiji, Minobu, Ikeda, Miki, Kodama, Kaori, Miyabayashi, Takuya, Sato, Ryo, Okubo, Yukimune, Endo, Wakaba, Inui, Takehiko, Togashi, Noriko, Nagao, Mika, Sato, Kaname, Sato, Takatoshi, Kanzaki, Masato, Segawa, Osamu, Masui, Kenta, Ishigaki, Keiko, Haginoya, Kazuhiro

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In utero transplantation of myoblasts and adipose-derived mesenchymal stem cells to murine models of Duchenne muscular dystrophy does not lead to engraftment and frequently results... von Kihara, Yuki, Tanaka, Yukie, Ikeda, Masanari, Homma, Jun, Takagi, Ryo, Ishigaki, Keiko, Yamanouchi, Keitaro, Honda, Hiroaki, Nagata, Satoru, Yamato, Masayuki

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Spinal cord findings in a long-term survivor of Duchenne muscular dystrophy von Imaizumi, Ruruka, Yamamoto, Tomoko, Masui, Kenta, Ishigaki, Keiko, Sato, Takatoshi, Murakami, Terumi, Shichiji, Minobu, Ishiguro, Kumiko, Kurata, Atsushi

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Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder von Shimomura, Rina, Yanagishita, Tomoe, Ishiguro, Kumiko, Shichiji, Minobu, Sato, Takatoshi, Shimojima Yamamoto, Keiko, Nagata, Miho, Ishihara, Yasuki, Miyashita, Yohei, Ishigaki, Keiko, Nagata, Satoru, Asano, Yoshihiro, Yamamoto, Toshiyuki

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A short form of gross motor function measure for Fukuyama congenital muscular dystrophy von Sato, Takatoshi, Adachi, Michiru, Matsuo, Aya, Zushi, Masaya, Goto, Keisuke, Hirose, Megumi, Ishiguro, Kumiko, Shichiji, Minobu, Murakami, Terumi, Ikai, Tetsuo, Osawa, Makiko, Kondo, Izumi, Nagata, Satoru, Ishigaki, Keiko

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The gross motor function measure is valid for Fukuyama congenital muscular dystrophy von Sato, Takatoshi, Adachi, Michiru, Nakamura, Kaho, Zushi, Masaya, Goto, Keisuke, Murakami, Terumi, Ishiguro, Kumiko, Shichiji, Minobu, Saito, Kayoko, Ukai, Tetsuo, Osawa, Makiko, Kondo, Izumi, Nagata, Satoru, Ishigaki, Keiko

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Early phase 2 trial of TAS‐205 in patients with Duchenne muscular dystrophy von Komaki, Hirofumi, Maegaki, Yoshihiro, Matsumura, Tsuyoshi, Shiraishi, Kazuhiro, Awano, Hiroyuki, Nakamura, Akinori, Kinoshita, Satoru, Ogata, Katsuhisa, Ishigaki, Keiko, Saitoh, Shinji, Funato, Michinori, Kuru, Satoshi, Nakayama, Takahiro, Iwata, Yasuyuki, Yajima, Hiroyuki, Takeda, Shin’ichi

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Modified Atkins diet therapy for a case with glucose transporter type 1 deficiency syndrome von Ito, Susumu, Oguni, Hirokazu, Ito, Yasushi, Ishigaki, Keiko, Ohinata, Junko, Osawa, Makiko

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Restoration of the defect in radial glial fiber migration and cortical plate organization in a brain organoid model of Fukuyama muscular dystrophy von Taniguchi-Ikeda, Mariko, Koyanagi-Aoi, Michiyo, Maruyama, Tatsuo, Takaori, Toru, Hosoya, Akiko, Tezuka, Hiroyuki, Nagase, Shotaro, Ishihara, Takuma, Kadoshima, Taisuke, Muguruma, Keiko, Ishigaki, Keiko, Sakurai, Hidetoshi, Mizoguchi, Akira, Novitch, Bennett G., Toda, Tatsushi, Watanabe, Momoko, Aoi, Takashi

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Respiratory management of patients with Fukuyama congenital muscular dystrophy von Sato, Takatoshi, Murakami, Terumi, Ishiguro, Kumiko, Shichiji, Minobu, Saito, Kayoko, Osawa, Makiko, Nagata, Satoru, Ishigaki, Keiko

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Congenital myasthenic syndrome in Japan: Ethnically unique mutations in muscle nicotinic acetylcholine receptor subunits von Azuma, Yoshiteru, Nakata, Tomohiko, Tanaka, Motoki, Shen, Xin-Ming, Ito, Mikako, Iwata, Satoshi, Okuno, Tatsuya, Nomura, Yoshiko, Ando, Naoki, Ishigaki, Keiko, Ohkawara, Bisei, Masuda, Akio, Natsume, Jun, Kojima, Seiji, Sokabe, Masahiro, Ohno, Kinji

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Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvement von Eto, Kaoru, Sakai, Norio, Shimada, Shino, Shioda, Mutsuki, Ishigaki, Keiko, Hamada, Yusuke, Shinpo, Michiko, Azuma, Junji, Tominaga, Koji, Shimojima, Keiko, Ozono, Keiichi, Osawa, Makiko, Yamamoto, Toshiyuki

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