Kubota T - Search Results

1

Hydrops fetalis due to loss of function of hNav1.4 channel via compound heterozygous variants.

Kubota T, Nagata M, Takagi K, Ishihara Y, Kojima K, Uchikura Y, Yamamoto R, Yonei A, Ozaki E, Kira N, Takahashi S, Homma K, Miyashita Y, Eguchi-Ishimae M, Sakai N, Asano Y, Sakata Y, Ozono K, Eguchi M, Takahashi MP. Kubota T, et al. J Hum Genet. 2024 Aug 21. doi: 10.1038/s10038-024-01284-z. Online ahead of print. J Hum Genet. 2024. PMID: 39164360

2

New mutation of the Na channel in the severe form of potassium-aggravated myotonia.

Kubota T, Kinoshita M, Sasaki R, Aoike F, Takahashi MP, Sakoda S, Hirose K. Kubota T, et al. Muscle Nerve. 2009 May;39(5):666-73. doi: 10.1002/mus.21155. Muscle Nerve. 2009. PMID: 19347921

3

A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia.

Kubota T, Roca X, Kimura T, Kokunai Y, Nishino I, Sakoda S, Krainer AR, Takahashi MP. Kubota T, et al. Hum Mutat. 2011 Jul;32(7):773-82. doi: 10.1002/humu.21501. Epub 2011 Apr 28. Hum Mutat. 2011. PMID: 21412952 Free PMC article.

4

A novel mutation in SCN4A causes severe myotonia and school-age-onset paralytic episodes.

Yoshinaga H, Sakoda S, Good JM, Takahashi MP, Kubota T, Arikawa-Hirasawa E, Nakata T, Ohno K, Kitamura T, Kobayashi K, Ohtsuka Y. Yoshinaga H, et al. Among authors: kubota t. J Neurol Sci. 2012 Apr 15;315(1-2):15-9. doi: 10.1016/j.jns.2011.12.015. Epub 2012 Jan 16. J Neurol Sci. 2012. PMID: 22257501

5

A sodium channel myotonia due to a novel SCN4A mutation accompanied by acquired autoimmune myasthenia gravis.

Kokunai Y, Goto K, Kubota T, Fukuoka T, Sakoda S, Ibi T, Doyu M, Mochizuki H, Sahashi K, Takahashi MP. Kokunai Y, et al. Among authors: kubota t. Neurosci Lett. 2012 Jun 21;519(1):67-72. doi: 10.1016/j.neulet.2012.05.023. Epub 2012 May 14. Neurosci Lett. 2012. PMID: 22617007

6

[Myotonia and cardiac conduction defects in myotonic dystrophy and defect in ion channels].

Kubota T, Nakamori M, Takahashi MP. Kubota T, et al. Rinsho Byori. 2014 Mar;62(3):246-54. Rinsho Byori. 2014. PMID: 24800500 Review. Japanese.

7

Functional analysis of a double-point mutation in the KCNJ2 gene identified in a family with Andersen-Tawil syndrome.

Fukumura S, Yamauchi K, Kawanabe A, Yamamoto A, Nakaza M, Kubota T, Kato S, Sasaki R, Okamura Y, Takahashi MP. Fukumura S, et al. Among authors: kubota t. J Neurol Sci. 2019 Dec 15;407:116521. doi: 10.1016/j.jns.2019.116521. Epub 2019 Oct 15. J Neurol Sci. 2019. PMID: 31669729

8

The expanding phenotype of hypokalemic periodic paralysis in a Japanese family with p.Val876Glu mutation in CACNA1S.

Kurokawa M, Torio M, Ohkubo K, Tocan V, Ohyama N, Toda N, Ishii K, Nishiyama K, Mushimoto Y, Sakamoto R, Nakaza M, Horie R, Kubota T, Takahashi MP, Sakai Y, Nomura M, Ohga S. Kurokawa M, et al. Among authors: kubota t. Mol Genet Genomic Med. 2020 Apr;8(4):e1175. doi: 10.1002/mgg3.1175. Epub 2020 Feb 27. Mol Genet Genomic Med. 2020. PMID: 32104981 Free PMC article.

9

EF hand-like motif mutations of Nav1.4 C-terminus cause myotonic syndrome by impairing fast inactivation.

Horie R, Kubota T, Koh J, Tanaka R, Nakamura Y, Sasaki R, Ito H, Takahashi MP. Horie R, et al. Among authors: kubota t. Muscle Nerve. 2020 Jun;61(6):808-814. doi: 10.1002/mus.26849. Epub 2020 Mar 17. Muscle Nerve. 2020. PMID: 32129495

10

Analysis of the genetic background associated with sporadic periodic paralysis in Japanese patients.

Nakaza M, Kitamura Y, Furuta M, Kubota T, Sasaki R, Takahashi MP. Nakaza M, et al. Among authors: kubota t. J Neurol Sci. 2020 May 15;412:116795. doi: 10.1016/j.jns.2020.116795. Epub 2020 Mar 24. J Neurol Sci. 2020. PMID: 32234253

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