Year |
Citation |
Score |
2023 |
Kubota T, Takahashi S, Yamamoto R, Sato R, Miyanooto A, Yamamoto R, Yamauchi K, Homma K, Takahashi MP. Optical measurement of gating pore currents in hypokalemic periodic paralysis model cells. Disease Models & Mechanisms. PMID 37139703 DOI: 10.1242/dmm.049704 |
0.321 |
|
2023 |
Segawa K, Nishiyama M, Mori I, Kubota T, Takahashi MP. Hyperkalemic periodic paralysis associated with a novel missense variant located in the inner pore of Nav1.4. Brain & Development. PMID 36628799 DOI: 10.1016/j.braindev.2022.12.003 |
0.363 |
|
2022 |
Shibano M, Kubota T, Kokubun N, Miyaji Y, Kuriki H, Ito Y, Hamanoue H, Takahashi MP. Periodic paralysis due to cumulative effects of rare variants in SCN4A with small functional alterations. Muscle & Nerve. PMID 36116128 DOI: 10.1002/mus.27725 |
0.328 |
|
2020 |
Kubota T, Wu F, Vicart S, Nakaza M, Sternberg D, Watanabe D, Furuta M, Kokunai Y, Abe T, Kokubun N, Fontaine B, Cannon SC, Takahashi MP. Hypokalaemic periodic paralysis with a charge-retaining substitution in the voltage sensor. Brain Communications. 2: fcaa103. PMID 33005891 DOI: 10.1093/braincomms/fcaa103 |
0.444 |
|
2014 |
Kubota T, Nakamori M, Takahashi MP. [Myotonia and cardiac conduction defects in myotonic dystrophy and defect in ion channels]. Rinsho Byori. the Japanese Journal of Clinical Pathology. 62: 246-54. PMID 24800500 |
0.306 |
|
2014 |
Kokunai Y, Nakata T, Furuta M, Sakata S, Kimura H, Aiba T, Yoshinaga M, Osaki Y, Nakamori M, Itoh H, Sato T, Kubota T, Kadota K, Shindo K, Mochizuki H, ... ... Takahashi MP, et al. A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1. Neurology. 82: 1058-64. PMID 24574546 DOI: 10.1212/Wnl.0000000000000239 |
0.326 |
|
2012 |
Kokunai Y, Goto K, Kubota T, Fukuoka T, Sakoda S, Ibi T, Doyu M, Mochizuki H, Sahashi K, Takahashi MP. A sodium channel myotonia due to a novel SCN4A mutation accompanied by acquired autoimmune myasthenia gravis. Neuroscience Letters. 519: 67-72. PMID 22617007 DOI: 10.1016/J.Neulet.2012.05.023 |
0.313 |
|
2012 |
Yoshinaga H, Sakoda S, Good JM, Takahashi MP, Kubota T, Arikawa-Hirasawa E, Nakata T, Ohno K, Kitamura T, Kobayashi K, Ohtsuka Y. A novel mutation in SCN4A causes severe myotonia and school-age-onset paralytic episodes. Journal of the Neurological Sciences. 315: 15-9. PMID 22257501 DOI: 10.1016/J.Jns.2011.12.015 |
0.304 |
|
2011 |
Kubota T, Roca X, Kimura T, Kokunai Y, Nishino I, Sakoda S, Krainer AR, Takahashi MP. A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia. Human Mutation. 32: 773-82. PMID 21412952 DOI: 10.1002/Humu.21501 |
0.342 |
|
2009 |
Kubota T, Kinoshita M, Sasaki R, Aoike F, Takahashi MP, Sakoda S, Hirose K. New mutation of the Na channel in the severe form of potassium-aggravated myotonia. Muscle & Nerve. 39: 666-73. PMID 19347921 DOI: 10.1002/Mus.21155 |
0.353 |
|
2006 |
Aoike F, Takahashi MP, Sakoda S. Class Ic antiarrhythmics block human skeletal muscle Na channel during myotonia-like stimulation European Journal of Pharmacology. 532: 24-31. PMID 16473348 DOI: 10.1016/j.ejphar.2005.12.021 |
0.302 |
|
2005 |
Kimura T, Nakamori M, Lueck JD, Pouliquin P, Aoike F, Fujimura H, Dirksen RT, Takahashi MP, Dulhunty AF, Sakoda S. Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1. Human Molecular Genetics. 14: 2189-200. PMID 15972723 DOI: 10.1093/Hmg/Ddi223 |
0.33 |
|
2002 |
Mankodi A, Takahashi MP, Jiang H, Beck CL, Bowers WJ, Moxley RT, Cannon SC, Thornton CA. Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. Molecular Cell. 10: 35-44. PMID 12150905 DOI: 10.1016/S1097-2765(02)00563-4 |
0.496 |
|
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