Tulobuterol is a potential therapeutic drug in congenital myasthenic syndrome von Miyana, Kaori, Ishiyama, Akihiko, Saito, Yoshihiko, Nishino, Ichizo

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Characterization and Functional Analysis of Extracellular Vesicles and Muscle-Abundant miRNAs (miR-1, miR-133a, and miR-206) in C2C12 Myocytes and mdx Mice von Matsuzaka, Yasunari, Tanihata, Jun, Komaki, Hirofumi, Ishiyama, Akihiko, Oya, Yasushi, Rüegg, Urs, Takeda, Shin-Ichi, Hashido, Kazuo

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De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance von Ohba, Chihiro, Haginoya, Kazuhiro, Osaka, Hitoshi, Kubota, Kazuo, Ishiyama, Akihiko, Hiraide, Takuya, Komaki, Hirofumi, Sasaki, Masayuki, Miyatake, Satoko, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Miyake, Noriko, Tanaka, Fumiaki, Saitsu, Hirotomo, Matsumoto, Naomichi

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De novo GABRA1 mutations in Ohtahara and West syndromes von Kodera, Hirofumi, Ohba, Chihiro, Kato, Mitsuhiro, Maeda, Toshiyuki, Araki, Kaoru, Tajima, Daisuke, Matsuo, Muneaki, Hino‐Fukuyo, Naomi, Kohashi, Kosuke, Ishiyama, Akihiko, Takeshita, Saoko, Motoi, Hirotaka, Kitamura, Taro, Kikuchi, Atsuo, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Miyake, Noriko, Sasaki, Masayuki, Kure, Shigeo, Haginoya, Kazuhiro, Saitsu, Hirotomo, Matsumoto, Naomichi

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Automatic calculation of Mercuri grades from CT and MR muscle images von Nakayama, Takahiro, Ishiyama, Akihiko, Murakami, Terumi, Kimura, En, Kuru, Satoshi

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Urinary prostaglandin metabolites as Duchenne muscular dystrophy progression markers von Takeshita, Eri, Komaki, Hirofumi, Tachimori, Hisateru, Miyoshi, Kazuhisa, Yamamiya, Ikuo, Shimizu-Motohashi, Yuko, Ishiyama, Akihiko, Saito, Takashi, Nakagawa, Eiji, Sugai, Kenji, Sasaki, Masayuki

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Muscle impairment in MRI affect variability in treatment response to nusinersen in patients with spinal muscular atrophy type 2 and 3: A retrospective cohort study von Shimizu-Motohashi, Yuko, Chiba, Emiko, Mizuno, Katsuhiro, Yajima, Hiroyuki, Ishiyama, Akihiko, Takeshita, Eri, Sato, Noriko, Oba, Mari, Sasaki, Masayuki, Ito, Shuichi, Komaki, Hirofumi

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Transient swelling in the globus pallidus and substantia nigra in childhood suggests SENDA/BPAN von Ishiyama, Akihiko, Kimura, Yukio, Iida, Aritoshi, Saito, Yoshihiko, Miyamoto, Yusaku, Okada, Mari, Sato, Noriko, Nishino, Ichizo, Sasaki, Masayuki

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Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders von Yamamoto, Toshiyuki, Imaizumi, Taichi, Yamamoto-Shimojima, Keiko, Lu, Yongping, Yanagishita, Tomoe, Shimada, Shino, Chong, Pin Fee, Kira, Ryutaro, Ueda, Riyo, Ishiyama, Akihiko, Takeshita, Eri, Momosaki, Ken, Ozasa, Shiro, Akiyama, Tomoyuki, Kobayashi, Katsuhiro, Oomatsu, Hiroo, Kitahara, Hikaru, Yamaguchi, Tokito, Imai, Katsumi, Kurahashi, Hirokazu, Okumura, Akihisa, Oguni, Hirokazu, Seto, Toshiyuki, Okamoto, Nobuhiko

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Modelling Duchenne muscular dystrophy in MYOD1-converted urine-derived cells treated with 3-deazaneplanocin A hydrochloride von Takizawa, Hotake, Hara, Yuko, Mizobe, Yoshitaka, Ohno, Taisuke, Suzuki, Sadafumi, Inoue, Ken, Takeshita, Eri, Shimizu-Motohashi, Yuko, Ishiyama, Akihiko, Hoshino, Mikio, Komaki, Hirofumi, Takeda, Shin’ichi, Aoki, Yoshitsugu

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13q13.3 microdeletion associated with apparently balanced translocation of 46,XX,t(7;13) suggests NBEA involvement von Miura, Masaki, Ishiyama, Akihiko, Nakagawa, Eiji, Sasaki, Masayuki, Kurosawa, Kenji, Inoue, Ken, Goto, Yu-ichi

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S7-3 Congenital muscular diseases von Ishiyama, Akihiko

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The nSMase2/Smpd3 gene modulates the severity of muscular dystrophy and the emotional stress response in mdx mice von Matsuzaka, Yasunari, Tanihata, Jun, Ooshima, Yoshiko, Yamada, Daisuke, Sekiguchi, Masayuki, Miyatake, Shouta, Aoki, Yoshitsugu, Terumitsu, Mika, Yashiro, Ryu, Komaki, Hirofumi, Ishiyama, Akihiko, Oya, Yasushi, Inoue, Yukiko U, Inoue, Takayoshi, Takeda, Shin'ichi, Hashido, Kazuo

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Long-term changes in electroencephalogram findings in a girl with a nonsense SMC1A variant: A case report von Hashimoto, Kazuhiko, Baba, Shimpei, Nakagawa, Eiji, Sumitomo, Noriko, Takeshita, Eri, Shimizu-Motohashi, Yuko, Ishiyama, Akihiko, Saito, Takashi, Abe-Hatano, Chihiro, Inoue, Ken, Iida, Aritoshi, Sasaki, Masayuki, Goto, Yu-ichi

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Alteration of the anatomical covariance network after corpus callosotomy in pediatric intractable epilepsy von Ueda, Riyo, Matsuda, Hiroshi, Sato, Noriko, Iwasaki, Masaki, Sone, Daichi, Takeshita, Eri, Shimizu-Motohashi, Yuko, Ishiyama, Akihiko, Saito, Takashi, Komaki, Hirofumi, Nakagawa, Eiji, Sugai, Kenji, Sasaki, Masayuki, Kaga, Yoshimi, Takeichi, Hiroshige, Inagaki, Masumi

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Long-term outcomes of steroid therapy for Duchenne muscular dystrophy in Japan von Goto, Masahide, Komaki, Hirofumi, Takeshita, Eri, Abe, Yoshiki, Ishiyama, Akihiko, Sugai, Kenji, Sasaki, Masayuki, Goto, Yu-ichi, Nonaka, Ikuya

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Renal dysfunction can occur in advanced‐stage Duchenne muscular dystrophy von Motoki, Takahiro, Shimizu‐Motohashi, Yuko, Saito, Isao, Komaki, Hirofumi, Ishiyama, Akihiko, Aibara, Kaori, Jogamoto, Toshihiro, Tezuka, Yuko, Kawabe, Mika, Makino, Akira, Nagatani, Koji, Tatara, Katsunori, Kuwabara, Kozue, Kikuchi, Chiya, Fukuda, Mitsumasa, Ishii, Eiichi, Eguchi, Mariko

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Systemic administration of the antisense oligonucleotide NS‐089/NCNP‐02 for skipping of exon 44 in patients with Duchenne muscular dystrophy: Study protocol for a phase I/II clinic... von Ishizuka, Takami, Komaki, Hirofumi, Asahina, Yasuko, Nakamura, Harumasa, Motohashi, Norio, Takeshita, Eri, Shimizu‐Motohashi, Yuko, Ishiyama, Akihiko, Yonee, Chihiro, Maruyama, Shinsuke, Hida, Eisuke, Aoki, Yoshitsugu

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Single-fiber electromyography-based diagnosis of CACNA1A mutation in children: A potential role of the electrodiagnosis in the era of whole exome sequencing von Hirasawa-Inoue, Ayaka, Ishiyama, Akihiko, Takeshita, Eri, Shimizu-Motohashi, Yuko, Saito, Takashi, Komaki, Hirofumi, Nakagawa, Eiji, Yuasa, Shota, Saitsu, Hirotomo, Hamanaka, Kohei, Miyatake, Satoko, Matsumoto, Naomichi, Sasaki, Masayuki

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Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations von Kohashi, Kosuke, Ishiyama, Akihiko, Yuasa, Shota, Tanaka, Tomomi, Miya, Kazushi, Adachi, Yuichi, Sato, Noriko, Saitsu, Hirotomo, Ohba, Chihiro, Matsumoto, Naomichi, Murakami, Yoshiko, Kinoshita, Taroh, Sugai, Kenji, Sasaki, Masayuki

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