Reply to letter to the editor "Regarding nusinersen and other therapeutic strategies for improved motor function" von Shimizu-Motohashi, Yuko, Komaki, Hirofumi

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Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy von Okubo, Mariko, Noguchi, Satoru, Hayashi, Shinichiro, Nakamura, Harumasa, Komaki, Hirofumi, Matsuo, Masafumi, Nishino, Ichizo

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CO2-sensitive tRNA modification associated with human mitochondrial disease von Lin, Huan, Miyauchi, Kenjyo, Harada, Tai, Okita, Ryo, Takeshita, Eri, Komaki, Hirofumi, Fujioka, Kaoru, Yagasaki, Hideki, Goto, Yu-ichi, Yanaka, Kaori, Nakagawa, Shinichi, Sakaguchi, Yuriko, Suzuki, Tsutomu

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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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Psychological distress mediates the association between COVID-19-related discrimination and subsequent PTSD symptom severity in healthcare workers: a two-year follow-up study von Narita, Zui, Okubo, Ryo, Sasaki, Yohei, Takeda, Kazuyoshi, Takao, Masaki, Komaki, Hirofumi, Oi, Hideki, Miyama, Takeshi, Kim, Yoshiharu

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A mutation in DOK7 in congenital myasthenic syndrome forms aggresome in cultured cells, and reduces DOK7 expression and MuSK phosphorylation in patient-derived iPS cells von Zhang, Shaochuan, Ohkawara, Bisei, Ito, Mikako, Huang, Zhizhou, Zhao, Fei, Nakata, Tomohiko, Takeuchi, Tomoya, Sakurai, Hidetoshi, Komaki, Hirofumi, Kamon, Masayoshi, Araki, Toshiyuki, Ohno, Kinji

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COVID‐19‐related discrimination, PTSD symptoms, and psychological distress in healthcare workers von Narita, Zui, Okubo, Ryo, Sasaki, Yohei, Takeda, Kazuyoshi, Takao, Masaki, Komaki, Hirofumi, Oi, Hideki, Mizoue, Tetsuya, Miyama, Takeshi, Kim, Yoshiharu

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RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy von 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

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Sudden cardiac death prevention in an Emery–Dreifuss muscular dystrophy patient von Yamazawa, Hirokuni, Takeda, Atsuhito, Izumi, Gaku, Komaki, Hirofumi, Nishino, Ichizo

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Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy von Negishi, Yutaka, Ieda, Daisuke, Hori, Ikumi, Nozaki, Yasuyuki, Yamagata, Takanori, Komaki, Hirofumi, Tohyama, Jun, Nagasaki, Keisuke, Tada, Hiroko, Saitoh, Shinji

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Restoring Dystrophin Expression in Duchenne Muscular Dystrophy: Current Status of Therapeutic Approaches von Shimizu-Motohashi, Yuko, Komaki, Hirofumi, Motohashi, Norio, Takeda, Shin'ichi, Yokota, Toshifumi, Aoki, Yoshitsugu

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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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NS-065/NCNP-01: An Antisense Oligonucleotide for Potential Treatment of Exon 53 Skipping in Duchenne Muscular Dystrophy von Watanabe, Naoki, Nagata, Tetsuya, Satou, Youhei, Masuda, Satoru, Saito, Takashi, Kitagawa, Hidetoshi, Komaki, Hirofumi, Takagaki, Kazuchika, Takeda, Shin’ichi

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COX6A2 variants cause a muscle‐specific cytochrome c oxidase deficiency von 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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Viltolarsen in Japanese Duchenne muscular dystrophy patients: A phase 1/2 study von Komaki, Hirofumi, Takeshima, Yasuhiro, Matsumura, Tsuyoshi, Ozasa, Shiro, Funato, Michinori, Takeshita, Eri, Iwata, Yasuyuki, Yajima, Hiroyuki, Egawa, Yoichi, Toramoto, Takuya, Tajima, Masaya, Takeda, Shinichi

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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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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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A Nationwide Survey on Danon Disease in Japan von 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

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Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan von Okubo, Mariko, Goto, Kanako, Komaki, Hirofumi, Nakamura, Harumasa, Mori-Yoshimura, Madoka, Hayashi, Yukiko K, Mitsuhashi, Satomi, Noguchi, Satoru, Kimura, En, Nishino, Ichizo

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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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