Presynaptic Dysfunction in Neurons Derived from Tay–Sachs iPSCs
Matsushita, Kozo, Numakawa, Tadahiro, Odaka, Haruki, Kajihara, Ryutaro, Soga, Minami, Ozasa, Shiro, Nakamura, Kimitoshi, Mizuta, Hiroshi, Era, Takumi
Published in Neuroscience (21.08.2019)
Published in Neuroscience (21.08.2019)
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Viltolarsen in Japanese Duchenne muscular dystrophy patients: A phase 1/2 study
Komaki, Hirofumi, Takeshima, Yasuhiro, Matsumura, Tsuyoshi, Ozasa, Shiro, Funato, Michinori, Takeshita, Eri, Iwata, Yasuyuki, Yajima, Hiroyuki, Egawa, Yoichi, Toramoto, Takuya, Tajima, Masaya, Takeda, Shinichi
Published in Annals of clinical and translational neurology (01.12.2020)
Published in Annals of clinical and translational neurology (01.12.2020)
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Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders
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
Published in Brain & development (Tokyo. 1979) (01.10.2019)
Published in Brain & development (Tokyo. 1979) (01.10.2019)
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Newborn screening for spinal muscular atrophy in Japan: One year of experience
Sawada, Takaaki, Kido, Jun, Sugawara, Keishin, Yoshida, Shinichiro, Ozasa, Shiro, Nomura, Keiko, Okada, Kentaro, Fujiyama, Natsumi, Nakamura, Kimitoshi
Published in Molecular genetics and metabolism reports (01.09.2022)
Published in Molecular genetics and metabolism reports (01.09.2022)
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Mitochondrial DNA depletion syndrome with a mutation in SLC25A4 developing epileptic encephalopathy: A case report
Kashiki, Tomoko, Kido, Jun, Momosaki, Ken, Kusunoki, Shouichirou, Ozasa, Shiro, Nomura, Keiko, Imai-Okazaki, Atsuko, Tsuruoka, Tomoko, Murayama, Kei, Koga, Yasutoshi, Nakamura, Kimitoshi
Published in Brain & development (Tokyo. 1979) (01.01.2022)
Published in Brain & development (Tokyo. 1979) (01.01.2022)
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Phenotypes of SMA patients retaining SMN1 with intragenic mutation
Wijaya, Yogik Onky Silvana, Ar Rohmah, Mawaddah, Niba, Emma Tabe Eko, Morisada, Naoya, Noguchi, Yoriko, Hidaka, Yasufumi, Ozasa, Shiro, Inoue, Takeshi, Shimazu, Tomoyuki, Takahashi, Yuya, Tozawa, Takenori, Chiyonobu, Tomohiro, Inoue, Takushi, Shiroshita, Tomoyoshi, Yokoyama, Atsushi, Okamoto, Kentaro, Awano, Hiroyuki, Takeshima, Yasuhiro, Saito, Toshio, Saito, Kayoko, Nishio, Hisahide, Shinohara, Masakazu
Published in Brain & development (Tokyo. 1979) (01.08.2021)
Published in Brain & development (Tokyo. 1979) (01.08.2021)
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Re-examination of therapeutic management of muscular dystrophies using a vascular smooth muscle-centered approach
Preethy, Senthilkumar, Yamamoto, Naoki, Ozasa, Shiro, Raghavan, Kadalraja, Dedeepiya, Vidyasagar Devaprasad, Iwasaki, Masaru, Abraham, Samuel JK
Published in Journal of Smooth Muscle Research (2023)
Published in Journal of Smooth Muscle Research (2023)
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Gene therapy for spinal muscular atrophy is considerably effective when administered as early as possible after birth
Sawada, Takaaki, Kido, Jun, Yae, Yukako, Yuge, Kotaro, Nomura, Keiko, Okada, Kentaro, Fujiyama, Natsumi, Ozasa, Shiro, Nakamura, Kimitoshi
Published in Molecular genetics and metabolism reports (01.06.2023)
Published in Molecular genetics and metabolism reports (01.06.2023)
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Estimation of muscle strength from actigraph data in Duchenne muscular dystrophy
Kimura, Shigemi, Ozasa, Shiro, Nomura, Keiko, Yoshioka, Kowashi, Endo, Fumio
Published in Pediatrics international (01.10.2014)
Published in Pediatrics international (01.10.2014)
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Natural history of Becker muscular dystrophy: a multicenter study of 225 patients
Nakamura, Akinori, Matsumura, Tsuyoshi, Ogata, Katsuhisa, Mori‐Yoshimura, Madoka, Takeshita, Eri, Kimura, Koichi, Kawashima, Takahiro, Tomo, Yui, Arahata, Hajime, Miyazaki, Daigo, Takeshima, Yasuhiro, Takahashi, Toshiaki, Ishigaki, Keiko, Kuru, Satoshi, Wakisaka, Akiko, Awano, Hiroyuki, Funato, Michinori, Sato, Tatsuharu, Saito, Yoshiaki, Takada, Hiroto, Sugie, Kazuma, Kobayashi, Michio, Ozasa, Shiro, Fujii, Tatsuya, Maegaki, Yoshihiro, Oi, Hideki, Tachimori, Hisateru, Komaki, Hirofumi
Published in Annals of clinical and translational neurology (01.12.2023)
Published in Annals of clinical and translational neurology (01.12.2023)
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Natural histories of patients with Wolf‐Hirschhorn syndrome derived from variable chromosomal abnormalities
Yamamoto‐Shimojima, Keiko, Kouwaki, Masanori, Kawashima, Yuki, Itomi, Kazuya, Momosaki, Ken, Ozasa, Shiro, Okamoto, Nobuhiko, Yokochi, Kenji, Yamamoto, Toshiyuki
Published in Congenital anomalies (01.09.2019)
Published in Congenital anomalies (01.09.2019)
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The Effect of S-Adenosylmethionine Treatment on Neurobehavioral Phenotypes in Lesch-Nyhan Disease: A Case Report
Momosaki, Ken, Kido, Jun, Matsumoto, Shiro, Taniguchi, Atsuo, Akiyama, Tomoyuki, Sawada, Takaaki, Ozasa, Shiro, Nakamura, Kimitoshi
Published in Case reports in neurology (01.09.2019)
Published in Case reports in neurology (01.09.2019)
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Smooth muscle-specific dystrophin expression improves aberrant vasoregulation in mdx mice
ITO, Kaori, KIMURA, Shigemi, MIWA, Takeshi, DICKSON, George, THOMAS, Gail D, MIIKE, Teruhisa, OZASA, Shiro, MATSUKURA, Makoto, IKEZAWA, Makoto, YOSHIOKA, Kowashi, UENO, Hiroe, SUZUKI, Misao, ARAKI, Kimi, YAMAMURA, Ken-Ichi
Published in Human molecular genetics (15.07.2006)
Published in Human molecular genetics (15.07.2006)
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Exon-skipping events in candidates for clinical trials of morpholino
Nakano, Shiho, Ozasa, Shiro, Yoshioka, Kowashi, Fujii, Isao, Mitsui, Kouichi, Nomura, Keiko, Kosuge, Hirofumi, Endo, Fumio, Matsukura, Makoto, Kimura, Shigemi
Published in Pediatrics international (01.08.2011)
Published in Pediatrics international (01.08.2011)
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Hashimoto's encephalopathy presenting with vertigo and muscle weakness in a male pediatric patient
Ueno, Hiroe, Nishizato, Chizuru, Shimazu, Tomoyuki, Watanabe, Hiziri, Mizukami, Tomoyuki, Kosuge, Hiroshi, Ozasa, Shiro, Nomura, Keiko, Kimura, Shigemi, Takahashi, Yukitoshi
Published in No to hattatsu (01.01.2016)
Published in No to hattatsu (01.01.2016)
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A 2-bp deletion in exon 74 of the dystrophin gene does not clearly induce muscle weakness
Kimura, Shigemi, Ito, Kaori, Ueno, Hiroe, Ikezawa, Makoto, Takeshima, Yasuhiro, Yoshioka, Kowashi, Ozasa, Shiro, Nakamura, Kyoko, Nomura, Keiko, Matsukura, Makoto, Mitsui, Koichi, Matsuo, Masafumi, Miike, Teruhisa
Published in Brain & development (Tokyo. 1979) (01.02.2009)
Published in Brain & development (Tokyo. 1979) (01.02.2009)
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Myoclonic Epilepsy With Ragged-Red Fibers Without Increased Lactate Levels
Kimura, Shigemi, MD, PhD, Ozasa, Shiro, MD, Nakamura, Kyoko, MD, Nomura, Keiko, MD, Kosuge, Hirofumi, MD
Published in Pediatric neurology (01.07.2009)
Published in Pediatric neurology (01.07.2009)
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Increase in cathepsin K gene expression in Duchenne muscular dystrophy skeletal muscle
Kimura, Shigemi, Miyake, Noriko, Ozasa, Shiro, Ueno, Hiroe, Ohtani, Yoshinobu, Takaoka, Yutaka, Nishino, Ichizo
Published in Neuropathology (16.07.2024)
Published in Neuropathology (16.07.2024)
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Therapeutic outcomes of laryngeal closure and laryngostomy in children with recurrent pneumonia
Murakami, Daizo, Miyamaru, Satoru, Nishimoto, Kohei, Ise, Momoko, Samejima, Yasuhiro, Ozasa, Shiro, Nakamura, Kimitoshi, Orita, Yorihisa
Published in International journal of pediatric otorhinolaryngology (01.09.2022)
Published in International journal of pediatric otorhinolaryngology (01.09.2022)
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