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Year | Number of Results |
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2015 | 1 |
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When muscle Ca2+ channels carry monovalent cations through gating pores: insights into the pathophysiology of type 1 hypokalaemic periodic paralysis.
J Physiol. 2018 Jun;596(11):2019-2027. doi: 10.1113/JP274955. Epub 2018 Apr 15.
J Physiol. 2018.
PMID: 29572832
Free PMC article.
Review.
Elevated resting H+ current in the R1239H type 1 hypokalaemic periodic paralysis mutated Ca2+ channel.
Fuster C, Perrot J, Berthier C, Jacquemond V, Allard B.
Fuster C, et al.
J Physiol. 2017 Oct 15;595(20):6417-6428. doi: 10.1113/JP274638. Epub 2017 Sep 24.
J Physiol. 2017.
PMID: 28857175
Free PMC article.
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K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaks.
Jurkat-Rott K, Weber MA, Fauler M, Guo XH, Holzherr BD, Paczulla A, Nordsborg N, Joechle W, Lehmann-Horn F.
Jurkat-Rott K, et al.
Proc Natl Acad Sci U S A. 2009 Mar 10;106(10):4036-41. doi: 10.1073/pnas.0811277106. Epub 2009 Feb 18.
Proc Natl Acad Sci U S A. 2009.
PMID: 19225109
Free PMC article.
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Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders.
Marinakis NM, Svingou M, Veltra D, Kekou K, Sofocleous C, Tilemis FN, Kosma K, Tsoutsou E, Fryssira H, Traeger-Synodinos J.
Marinakis NM, et al.
Am J Med Genet A. 2021 Aug;185(8):2561-2571. doi: 10.1002/ajmg.a.62338. Epub 2021 May 19.
Am J Med Genet A. 2021.
PMID: 34008892
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Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis.
Wang XY, Ren BW, Yong ZH, Xu HY, Fu QX, Yao HB.
Wang XY, et al.
Mol Med Rep. 2015 Oct;12(4):6267-74. doi: 10.3892/mmr.2015.4201. Epub 2015 Aug 7.
Mol Med Rep. 2015.
PMID: 26252573
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