Tomoya Kubota
Affiliations: | University of Chicago, Chicago, IL |
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| Kubota T, Takahashi S, Yamamoto R, et al. (2023) Optical measurement of gating pore currents in hypokalemic periodic paralysis model cells. Disease Models & Mechanisms |
| Segawa K, Nishiyama M, Mori I, et al. (2023) Hyperkalemic periodic paralysis associated with a novel missense variant located in the inner pore of Nav1.4. Brain & Development |
| Shibano M, Kubota T, Kokubun N, et al. (2022) Periodic paralysis due to cumulative effects of rare variants in SCN4A with small functional alterations. Muscle & Nerve |
| Kubota T, Wu F, Vicart S, et al. (2020) Hypokalaemic periodic paralysis with a charge-retaining substitution in the voltage sensor. Brain Communications. 2: fcaa103 |
| Sasaki R, Nakaza M, Furuta M, et al. (2020) Mutation spectrum and health status in skeletal muscle channelopathies in Japan. Neuromuscular Disorders : Nmd |
| Du X, Carvalho-de-Souza JL, Wei C, et al. (2020) Loss-of-function BK channel mutation causes impaired mitochondria and progressive cerebellar ataxia. Proceedings of the National Academy of Sciences of the United States of America |
| Horie R, Kubota T, Koh J, et al. (2020) EF hand-like motif mutations of Nav1.4 C-terminus cause myotonic syndrome by impairing fast inactivation. Muscle & Nerve |
| Kurokawa M, Torio M, Ohkubo K, et al. (2020) The expanding phenotype of hypokalemic periodic paralysis in a Japanese family with p.Val876Glu mutation in CACNA1S. Molecular Genetics & Genomic Medicine. e1175 |
| Horie R, Kubota T, Koh J, et al. (2020) Myotonic Mutations of Nav1.4 Located At EF Hand-Like Motif in C-Terminus Impair Fast Inactivation Biophysical Journal. 118: 575a-576a |
| Fukumura S, Yamauchi K, Kawanabe A, et al. (2019) Functional analysis of a double-point mutation in the KCNJ2 gene identified in a family with Andersen-Tawil syndrome. Journal of the Neurological Sciences. 407: 116521 |