Metabolic complications in myotonic dystrophy type 1: A cross-sectional survey using the National Registry of Japan
Hama, Manami, Horie, Riho, Kubota, Tomoya, Matsumura, Tsuyoshi, Kimura, En, Nakamura, Harumasa, Takahashi, Masanori P., Takada, Hiroto
Published in Journal of the neurological sciences (15.08.2021)
Published in Journal of the neurological sciences (15.08.2021)
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EF hand‐like motif mutations of Nav1.4 C‐terminus cause myotonic syndrome by impairing fast inactivation
Horie, Riho, Kubota, Tomoya, Koh, Jinsoo, Tanaka, Rieko, Nakamura, Yuichiro, Sasaki, Ryogen, Ito, Hidefumi, Takahashi, Masanori P.
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Published in Muscle & nerve (01.06.2020)
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Characteristics of myotonic dystrophy patients in the national registry of Japan
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Published in Journal of the neurological sciences (15.01.2022)
Published in Journal of the neurological sciences (15.01.2022)
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The expanding phenotype of hypokalemic periodic paralysis in a Japanese family with p.Val876Glu mutation in CACNA1S
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Published in Molecular genetics & genomic medicine (01.04.2020)
Published in Molecular genetics & genomic medicine (01.04.2020)
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Myotonic Mutations of Nav1.4 Located At EF Hand-Like Motif in C-Terminus Impair Fast Inactivation
Horie, Riho, Kubota, Tomoya, Koh, Jinsoo, Tanaka, Rieko, Nakamura, Yuichiro, Ryogen, Sasaki, Ito, Hidefumi, Takahashi, Masanori P.
Published in Biophysical journal (07.02.2020)
Published in Biophysical journal (07.02.2020)
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