Zobrazeno 1 - 10
of 48
pro vyhledávání: '"Shiro OZASA"'
Autor:
Akinori Nakamura, Tsuyoshi Matsumura, Katsuhisa Ogata, Madoka Mori‐Yoshimura, Eri Takeshita, Koichi Kimura, Takahiro Kawashima, Yui Tomo, Hajime Arahata, Daigo Miyazaki, Yasuhiro Takeshima, Toshiaki Takahashi, Keiko Ishigaki, Satoshi Kuru, Akiko Wakisaka, Hiroyuki Awano, Michinori Funato, Tatsuharu Sato, Yoshiaki Saito, Hiroto Takada, Kazuma Sugie, Michio Kobayashi, Shiro Ozasa, Tatsuya Fujii, Yoshihiro Maegaki, Hideki Oi, Hisateru Tachimori, Hirofumi Komaki
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 12, Pp 2360-2372 (2023)
Abstract Objective Becker muscular dystrophy (BMD) is a milder variant of Duchenne muscular dystrophy (DMD), a lethal X‐linked muscular disorder. Here, we aim to investigat the clinical involvement of skeletal, respiratory, cardiac, and central ner
Externí odkaz:
https://doaj.org/article/a987e5299b4d4ea4ad7e57127afced9b
Autor:
Takaaki Sawada, Jun Kido, Yukako Yae, Kotaro Yuge, Keiko Nomura, Kentaro Okada, Natsumi Fujiyama, Shiro Ozasa, Kimitoshi Nakamura
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 35, Iss , Pp 100973- (2023)
Introduction: Spinal muscular atrophy (SMA) is a neuromuscular disease characterized by muscle atrophy and progressive muscle weakness. Insurance-approved treatments in Japan include antisense oligonucleotide therapy, gene therapy, and small molecule
Externí odkaz:
https://doaj.org/article/6468af53f2464cbba836b84838209dcf
Autor:
Takaaki Sawada, Jun Kido, Keishin Sugawara, Shinichiro Yoshida, Shiro Ozasa, Keiko Nomura, Kentaro Okada, Natsumi Fujiyama, Kimitoshi Nakamura
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 32, Iss , Pp 100908- (2022)
Spinal muscular atrophy (SMA) is a degenerative neuromuscular disease that causes progressive muscle weakness and atrophy due to loss of the anterior horn cells of the spinal cord. Although effective treatments, such as gene therapy, have emerged in
Externí odkaz:
https://doaj.org/article/8718468994b54d21bb3f3f5767ec7abf
Autor:
Ken Momosaki, Jun Kido, Shiro Matsumoto, Atsuo Taniguchi, Tomoyuki Akiyama, Takaaki Sawada, Shiro Ozasa, Kimitoshi Nakamura
Publikováno v:
Case Reports in Neurology, Vol 11, Iss 3, Pp 256-264 (2019)
Lesch-Nyhan disease (LND) is an X-linked recessive disorder caused by a deficiency in hypoxanthine-guanine phosphoribosyl transferase. Patients with LND experience involuntary movements, including dystonia, choreoathetosis, opisthotonos, ballismus, a
Externí odkaz:
https://doaj.org/article/becb7fd719cb4fd69965bee3fd21cfed
Publikováno v:
Case Reports in Pediatrics, Vol 2013 (2013)
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, as well as a general predominance of type 1 myofibers. Conversely, myasthenia gravis (MG) is
Externí odkaz:
https://doaj.org/article/89d9dc189609457080abf69c0179d4e4
Autor:
Keiko Nomura, Shiro Ozasa, Kei Murayama, Tomoko Tsuruoka, Atsuko Imai-Okazaki, Yasutoshi Koga, Kimitoshi Nakamura, Tomoko Kashiki, Jun Kido, Ken Momosaki, Shouichirou Kusunoki
Publikováno v:
Brain and Development. 44:56-62
Introduction Autosomal dominant mitochondrial DNA depletion syndrome (MTDPS-12A) is characterized by severe hypotonia from birth due to a mutation in the adenine nucleotide translocator 1 (ANT1). Case report A 4-year-old female patient diagnosed with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5c73d209b4d8a48ecc435ac9a9ac61bf
https://doi.org/10.1016/j.braindev.2021.08.005
https://doi.org/10.1016/j.braindev.2021.08.005
Autor:
Kayoko Saito, Yasuhiro Takeshima, Takenori Tozawa, Hisahide Nishio, Yuya Takahashi, Hiroyuki Awano, Toshio Saito, Tomoyoshi Shiroshita, Masakazu Shinohara, Tomoyuki Shimazu, Yasufumi Hidaka, Yoriko Noguchi, Shiro Ozasa, Yogik Onky Silvana Wijaya, Takeshi Inoue, Naoya Morisada, Tomohiro Chiyonobu, Takushi Inoue, Emma Tabe Eko Niba, Atsushi Yokoyama, Mawaddah Ar Rohmah, Kentaro Okamoto
Publikováno v:
Brain and Development. 43:745-758
Background Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by homozygous deletion or intragenic mutation of the SMN1 gene. It is well-known that high copy number of its homologous gene, SMN2, modifies the phenoty
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47688e4ebd027b9b9691cc84c151baaf
https://doi.org/10.1016/j.braindev.2021.03.006
https://doi.org/10.1016/j.braindev.2021.03.006
Autor:
Daizo Murakami, Satoru Miyamaru, Kohei Nishimoto, Momoko Ise, Yasuhiro Samejima, Shiro Ozasa, Kimitoshi Nakamura, Yorihisa Orita
Publikováno v:
International journal of pediatric otorhinolaryngology. 160
Children with medical complexity frequently experience difficulty breathing and swallowing and occasionally develop aspiration pneumonia. Long-term intubation may cause fatal trachea-innominate artery fistula (TIF). In the present study, we retrospec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5427497c8d99bf238b4ad2735fcb1b0
https://pubmed.ncbi.nlm.nih.gov/35797922
https://pubmed.ncbi.nlm.nih.gov/35797922
Publikováno v:
Pediatric Reports
Smith–Magenis syndrome (SMS) is a complex disorder characterized by variable mental retardation, sleep disturbances, craniofacial and skeletal anomalies, self-injurious and attention-seeking behaviors, and speech and motor delays. The case of a 14-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86a383df4c6d4892f65727f2a230f536
https://doi.org/10.3390/pediatric12030018
https://doi.org/10.3390/pediatric12030018
Autor:
PREETHY, Senthilkumar, Naoki YAMAMOTO, Shiro OZASA, RAGHAVAN, Kadalraja, DEDEEPIYA, Vidyasagar Devaprasad, Masaru IWASAKI, ABRAHAM, Samuel J. K.
Publikováno v:
Journal of Smooth Muscle Research; 2023, Vol. 59, p67-80, 14p