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Year | Number of Results |
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2016 | 1 |
2017 | 1 |
2020 | 2 |
2022 | 1 |
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Page 1
Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature.
Channels (Austin). 2017 Jan 2;11(1):55-65. doi: 10.1080/19336950.2016.1212140. Epub 2016 Jul 14.
Channels (Austin). 2017.
PMID: 27415035
Free PMC article.
Mutation spectrum and health status in skeletal muscle channelopathies in Japan.
Sasaki R, Nakaza M, Furuta M, Fujino H, Kubota T, Takahashi MP.
Sasaki R, et al.
Neuromuscul Disord. 2020 Jul;30(7):546-553. doi: 10.1016/j.nmd.2020.06.001. Epub 2020 Jun 7.
Neuromuscul Disord. 2020.
PMID: 32660787
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A Japanese family with primary familial brain calcification presenting with paroxysmal kinesigenic dyskinesia - A comprehensive mutational analysis.
Mitsutake A, Matsukawa T, Porto KJL, Sato T, Katsumata J, Seki T, Maekawa R, Hideyama T, Tanaka M, Ishiura H, Toda T, Tsuji S, Shiio Y.
Mitsutake A, et al.
J Neurol Sci. 2020 Nov 15;418:117091. doi: 10.1016/j.jns.2020.117091. Epub 2020 Aug 11.
J Neurol Sci. 2020.
PMID: 32798841
No abstract available.
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Periodic paralysis due to cumulative effects of rare variants in SCN4A with small functional alterations.
Shibano M, Kubota T, Kokubun N, Miyaji Y, Kuriki H, Ito Y, Hamanoue H, Takahashi MP.
Shibano M, et al.
Muscle Nerve. 2022 Dec;66(6):757-761. doi: 10.1002/mus.27725. Epub 2022 Oct 4.
Muscle Nerve. 2022.
PMID: 36116128
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