Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Riho Horie"'
Autor:
Mari Kurokawa, Michiko Torio, Kazuhiro Ohkubo, Vlad Tocan, Noriko Ohyama, Naoko Toda, Kanako Ishii, Kei Nishiyama, Yuichi Mushimoto, Ryuichi Sakamoto, Maki Nakaza, Riho Horie, Tomoya Kubota, Masanori P. Takahashi, Yasunari Sakai, Masatoshi Nomura, Shouichi Ohga
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)
Abstract Background Hypokalemic periodic paralysis (HypoPP) is an autosomal dominant disease characterized by the episodic weakness of skeletal muscles and hypokalemia. More than half patients with HypoPP carry mutations in CACNA1S, encoding alpha‐
Externí odkaz:
https://doaj.org/article/23d552679e284c2998d8d1439a933b91
Autor:
Masanori P. Takahashi, Tomoya Kubota, Hidefumi Ito, Rieko Tanaka, Jinsoo Koh, Yuichiro Nakamura, Ryogen Sasaki, Riho Horie
Publikováno v:
Muscle & Nerve. 61:808-814
Introduction Mutations of the voltage-gated sodium channel gene (SCN4A), which encodes Nav1.4, cause nondystrophic myotonia that occasionally is associated with severe apnea and laryngospasm. There are case reports of nondystrophic myotonia due to mu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49b2696bb175383be1998a3c322be09c
https://doi.org/10.1002/mus.26849
https://doi.org/10.1002/mus.26849
Autor:
Marika Sugimoto, Satoshi Kuru, Hiroto Takada, Riho Horie, Kosuke Yamauchi, Tomoya Kubota, Tsuyoshi Matsumura, Harumasa Nakamura, En Kimura, Masanori P. Takahashi
Publikováno v:
Journal of the neurological sciences. 432
Myotonic dystrophies (DM) are inherited autosomal dominant disorders affecting multiple organs. Currently available therapeutics for DM are limited; therefore, a patient registry is essential for therapeutic development and success of clinical trials
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7eca350c4dd4128f866b3e04e4f7a318
https://pubmed.ncbi.nlm.nih.gov/34923335
https://pubmed.ncbi.nlm.nih.gov/34923335
Autor:
Tomoya Kubota, Hiroto Takada, Tsuyoshi Matsumura, Harumasa Nakamura, Riho Horie, Masanori P. Takahashi, En Kimura, Manami Hama
Publikováno v:
Journal of the neurological sciences. 427
Myotonic dystrophy type 1 (DM1) is the most common form of muscular dystrophy in adults, affecting multiple organs, including the eyes, heart, endocrine system, and central nervous system. The broad spectrum of DM1 symptoms has been attributed to the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f69f4848dee0c950631b535b29d39d2e
https://pubmed.ncbi.nlm.nih.gov/34082146
https://pubmed.ncbi.nlm.nih.gov/34082146
Autor:
Masatoshi Nomura, Riho Horie, Tomoya Kubota, Shouichi Ohga, Kazuhiro Ohkubo, Vlad Tocan, Maki Nakaza, Yuichi Mushimoto, Michiko Torio, Masanori P. Takahashi, Noriko Ohyama, Mari Kurokawa, Ryuichi Sakamoto, Naoko Toda, Yasunari Sakai, Kanako Ishii, Kei Nishiyama
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)
Background Hypokalemic periodic paralysis (HypoPP) is an autosomal dominant disease characterized by the episodic weakness of skeletal muscles and hypokalemia. More than half patients with HypoPP carry mutations in CACNA1S, encoding alpha‐1 subunit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6907edc5c54195a271c0aa547cc1768f
https://doi.org/10.1002/mgg3.1175
https://doi.org/10.1002/mgg3.1175
Autor:
Masanori P. Takahashi, Jinsoo Koh, Hidefumi Ito, Rieko Tanaka, Sasaki Ryogen, Yuichiro Nakamura, Riho Horie, Tomoya Kubota
Publikováno v:
Biophysical Journal. 118:575a-576a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::17dc486f3af740d98cdc74b3a75ca0c5
https://doi.org/10.1016/j.bpj.2019.11.3127
https://doi.org/10.1016/j.bpj.2019.11.3127