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Year | Number of Results |
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1994 | 1 |
1995 | 1 |
2005 | 1 |
2007 | 3 |
2009 | 1 |
2024 | 0 |
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Page 1
Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families.
Am J Hum Genet. 1995 Feb;56(2):374-80.
Am J Hum Genet. 1995.
PMID: 7847370
Free PMC article.
Dihydropyridine receptor mutations cause hypokalemic periodic paralysis.
Ptácek LJ, Tawil R, Griggs RC, Engel AG, Layzer RB, Kwieciński H, McManis PG, Santiago L, Moore M, Fouad G, et al.
Ptácek LJ, et al.
Cell. 1994 Jun 17;77(6):863-8. doi: 10.1016/0092-8674(94)90135-x.
Cell. 1994.
PMID: 8004673
Item in Clipboard
A Korean family of hypokalemic periodic paralysis with mutation in a voltage-gated calcium channel (R1239G).
Kim JB, Lee KY, Hur JK.
Kim JB, et al.
J Korean Med Sci. 2005 Feb;20(1):162-5. doi: 10.3346/jkms.2005.20.1.162.
J Korean Med Sci. 2005.
PMID: 15716625
Free PMC article.
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Hypokalaemic periodic paralysis due to the CACNA1S R1239H mutation in a large African family.
Houinato D, Laleye A, Adjien C, Adjagba M, Sternberg D, Hilbert P, Vallat JM, Darboux RB, Funalot B, Avode DG.
Houinato D, et al.
Neuromuscul Disord. 2007 May;17(5):419-22. doi: 10.1016/j.nmd.2007.01.020. Epub 2007 Apr 5.
Neuromuscul Disord. 2007.
PMID: 17418573
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The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis.
Kim JB, Kim MH, Lee SJ, Kim DJ, Lee BC.
Kim JB, et al.
J Korean Med Sci. 2007 Dec;22(6):946-51. doi: 10.3346/jkms.2007.22.6.946.
J Korean Med Sci. 2007.
PMID: 18162704
Free PMC article.
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Myopathy as the first symptom of hypokalemic periodic paralysis--case report of a girl from a Polish family with CACNA1S (R1239G) mutation.
Winczewska-Wiktor A, Steinborn B, Lehman-Horn F, Biczysko W, Wiktor M, Gurda B, Jurkat-Rott K.
Winczewska-Wiktor A, et al.
Adv Med Sci. 2007;52 Suppl 1:155-7.
Adv Med Sci. 2007.
PMID: 18229654
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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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