Search Results - "OZASA, Shiro"

Presynaptic Dysfunction in Neurons Derived from Tay–Sachs iPSCs by Matsushita, Kozo, Numakawa, Tadahiro, Odaka, Haruki, Kajihara, Ryutaro, Soga, Minami, Ozasa, Shiro, Nakamura, Kimitoshi, Mizuta, Hiroshi, Era, Takumi

“…Tay–Sachs disease (TSD) is a GM2 gangliosidosis lysosomal storage disease caused by a loss of lysosomal hexosaminidase-A (HEXA) activity and characterized by…”
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Viltolarsen in Japanese Duchenne muscular dystrophy patients: A phase 1/2 study by Komaki, Hirofumi, Takeshima, Yasuhiro, Matsumura, Tsuyoshi, Ozasa, Shiro, Funato, Michinori, Takeshita, Eri, Iwata, Yasuyuki, Yajima, Hiroyuki, Egawa, Yoichi, Toramoto, Takuya, Tajima, Masaya, Takeda, Shinichi

“…Objective The novel morpholino antisense oligonucleotide viltolarsen targets exon 53 of the dystrophin gene, and could be an effective treatment for patients…”
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Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders by 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

“…Recently, many genes related to neurodevelopmental disorders have been identified by high-throughput genomic analysis; however, a comprehensive understanding…”
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Newborn screening for spinal muscular atrophy in Japan: One year of experience by Sawada, Takaaki, Kido, Jun, Sugawara, Keishin, Yoshida, Shinichiro, Ozasa, Shiro, Nomura, Keiko, Okada, Kentaro, Fujiyama, Natsumi, Nakamura, Kimitoshi

“…Spinal muscular atrophy (SMA) is a degenerative neuromuscular disease that causes progressive muscle weakness and atrophy due to loss of the anterior horn…”
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Mitochondrial DNA depletion syndrome with a mutation in SLC25A4 developing epileptic encephalopathy: A case report by Kashiki, Tomoko, Kido, Jun, Momosaki, Ken, Kusunoki, Shouichirou, Ozasa, Shiro, Nomura, Keiko, Imai-Okazaki, Atsuko, Tsuruoka, Tomoko, Murayama, Kei, Koga, Yasutoshi, Nakamura, Kimitoshi

“…Autosomal dominant mitochondrial DNA depletion syndrome (MTDPS-12A) is characterized by severe hypotonia from birth due to a mutation in the adenine nucleotide…”
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Phenotypes of SMA patients retaining SMN1 with intragenic mutation by 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

“…Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by homozygous deletion or intragenic mutation of the SMN1 gene. It is…”
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Re-examination of therapeutic management of muscular dystrophies using a vascular smooth muscle-centered approach by Preethy, Senthilkumar, Yamamoto, Naoki, Ozasa, Shiro, Raghavan, Kadalraja, Dedeepiya, Vidyasagar Devaprasad, Iwasaki, Masaru, Abraham, Samuel JK

“…In contrast to the long-standing focus on the pathophysiology of skeletal muscles in the hunt for a cure for Duchenne muscular dystrophy (DMD), we opine that…”
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Gene therapy for spinal muscular atrophy is considerably effective when administered as early as possible after birth by Sawada, Takaaki, Kido, Jun, Yae, Yukako, Yuge, Kotaro, Nomura, Keiko, Okada, Kentaro, Fujiyama, Natsumi, Ozasa, Shiro, Nakamura, Kimitoshi

“…Spinal muscular atrophy (SMA) is a neuromuscular disease characterized by muscle atrophy and progressive muscle weakness. Insurance-approved treatments in…”
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Estimation of muscle strength from actigraph data in Duchenne muscular dystrophy by Kimura, Shigemi, Ozasa, Shiro, Nomura, Keiko, Yoshioka, Kowashi, Endo, Fumio

“…Background The purpose of this study was to evaluate the utility of a wrist actigraph for estimating muscle strength in Duchenne muscular dystrophy patients…”
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Natural history of Becker muscular dystrophy: a multicenter study of 225 patients by 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

“…Objective Becker muscular dystrophy (BMD) is a milder variant of Duchenne muscular dystrophy (DMD), a lethal X‐linked muscular disorder. Here, we aim to…”
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Natural histories of patients with Wolf‐Hirschhorn syndrome derived from variable chromosomal abnormalities by Yamamoto‐Shimojima, Keiko, Kouwaki, Masanori, Kawashima, Yuki, Itomi, Kazuya, Momosaki, Ken, Ozasa, Shiro, Okamoto, Nobuhiko, Yokochi, Kenji, Yamamoto, Toshiyuki

“…Wolf‐Hirschhorn syndrome (WHS) is a subtelomeric deletion syndrome affecting the short arm of chromosome 4. The main clinical features are a typical…”
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The Effect of S-Adenosylmethionine Treatment on Neurobehavioral Phenotypes in Lesch-Nyhan Disease: A Case Report by Momosaki, Ken, Kido, Jun, Matsumoto, Shiro, Taniguchi, Atsuo, Akiyama, Tomoyuki, Sawada, Takaaki, Ozasa, Shiro, Nakamura, Kimitoshi

“…Lesch-Nyhan disease (LND) is an X-linked recessive disorder caused by a deficiency in hypoxanthine-guanine phosphoribosyl transferase. Patients with LND…”
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Smooth muscle-specific dystrophin expression improves aberrant vasoregulation in mdx mice by 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

“…Duchenne muscular dystrophy (DMD) is a fatal X-linked muscle-wasting disease caused by mutations of the gene encoding the cytoskeletal protein dystrophin…”
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Exon-skipping events in candidates for clinical trials of morpholino by Nakano, Shiho, Ozasa, Shiro, Yoshioka, Kowashi, Fujii, Isao, Mitsui, Kouichi, Nomura, Keiko, Kosuge, Hirofumi, Endo, Fumio, Matsukura, Makoto, Kimura, Shigemi

“…Background:  Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused by abnormalities in the DMD gene. The majority of DMD patients…”
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A Case Report of Congenital Fiber Type Disproportion with an Increased Level of Anti-ACh Receptor Antibodies by Kimura, Shigemi, Ozasa, Shiro, Nomura, Keiko, Kosuge, Hirofumi, Yoshioka, Kowasi

“…Congenital fiber type disproportion (CFTD) is a form of congenital myopathy, which is defined by type 1 myofibers that are 12% smaller than type 2 myofibers,…”
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Hashimoto's encephalopathy presenting with vertigo and muscle weakness in a male pediatric patient by Ueno, Hiroe, Nishizato, Chizuru, Shimazu, Tomoyuki, Watanabe, Hiziri, Mizukami, Tomoyuki, Kosuge, Hiroshi, Ozasa, Shiro, Nomura, Keiko, Kimura, Shigemi, Takahashi, Yukitoshi

“…Hashimoto's encephalopathy is an anti-thyroid antibody-positive autoimmune encephalopathy. We herein report the case of a 13-year-old male patient with…”
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A 2-bp deletion in exon 74 of the dystrophin gene does not clearly induce muscle weakness by 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

“…Abstract Duchenne muscular dystrophy (DMD) is caused by mutation of the dystrophin gene. Cases of dystrophinopathy with a 2-bp deletion in the dystrophin gene…”
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Myoclonic Epilepsy With Ragged-Red Fibers Without Increased Lactate Levels by Kimura, Shigemi, MD, PhD, Ozasa, Shiro, MD, Nakamura, Kyoko, MD, Nomura, Keiko, MD, Kosuge, Hirofumi, MD

“…Myoclonic epilepsy associated with ragged-red fibers is one of the mitochondrial encephalomyopathies. Pathogenic mitochondrial DNA mutations have been…”
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Increase in cathepsin K gene expression in Duchenne muscular dystrophy skeletal muscle by Kimura, Shigemi, Miyake, Noriko, Ozasa, Shiro, Ueno, Hiroe, Ohtani, Yoshinobu, Takaoka, Yutaka, Nishino, Ichizo

“…Dystrophinopathy is caused by alterations in the dystrophin gene. The severe phenotype, Duchenne muscular dystrophy (DMD), is caused by a lack of dystrophin in…”
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Therapeutic outcomes of laryngeal closure and laryngostomy in children with recurrent pneumonia by Murakami, Daizo, Miyamaru, Satoru, Nishimoto, Kohei, Ise, Momoko, Samejima, Yasuhiro, Ozasa, Shiro, Nakamura, Kimitoshi, Orita, Yorihisa

“…Children with medical complexity frequently experience difficulty breathing and swallowing and occasionally develop aspiration pneumonia. Long-term intubation…”
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