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Results: 1 to 20 of 107

1.

A novel mutation in CACNA1S gene associated with hypokalemic periodic paralysis which has a gender difference in the penetrance.

Li FF, Li QQ, Tan ZX, Zhang SY, Liu J, Zhao EY, Yu GC, Zhou J, Zhang LM, Liu SL.

J Mol Neurosci. 2012 Feb;46(2):378-83. doi: 10.1007/s12031-011-9596-1. Epub 2011 Aug 16.

PMID:
21845430
[PubMed - indexed for MEDLINE]
2.

Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family.

Wang Q, Liu M, Xu C, Tang Z, Liao Y, Du R, Li W, Wu X, Wang X, Liu P, Zhang X, Zhu J, Ren X, Ke T, Wang Q, Yang J.

J Mol Med (Berl). 2005 Mar;83(3):203-8. Epub 2005 Feb 22.

PMID:
15726306
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family.

Ke T, Gomez CR, Mateus HE, Castano JA, Wang QK.

J Hum Genet. 2009 Nov;54(11):660-4. doi: 10.1038/jhg.2009.92. Epub 2009 Sep 25.

PMID:
19779499
[PubMed - indexed for MEDLINE]
4.

Identification of mutations including de novo mutations in Korean patients with hypokalaemic periodic paralysis.

Kim SH, Kim UK, Chae JJ, Kim DJ, Oh HY, Kim BJ, Lee CC.

Nephrol Dial Transplant. 2001 May;16(5):939-44.

PMID:
11328898
[PubMed - indexed for MEDLINE]
Free Article
5.

Gender differences in penetrance and phenotype in hypokalemic periodic paralysis.

Ke Q, Luo B, Qi M, Du Y, Wu W.

Muscle Nerve. 2013 Jan;47(1):41-5. doi: 10.1002/mus.23460. Epub 2012 Sep 27.

PMID:
23019082
[PubMed - indexed for MEDLINE]
6.

Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A.

Sternberg D, Maisonobe T, Jurkat-Rott K, Nicole S, Launay E, Chauveau D, Tabti N, Lehmann-Horn F, Hainque B, Fontaine B.

Brain. 2001 Jun;124(Pt 6):1091-9.

PMID:
11353725
[PubMed - indexed for MEDLINE]
Free Article
7.

A family of hypokalemic periodic paralysis with CACNA1S gene mutation showing incomplete penetrance in women.

Kawamura S, Ikeda Y, Tomita K, Watanabe N, Seki K.

Intern Med. 2004 Mar;43(3):218-22.

PMID:
15098604
[PubMed - indexed for MEDLINE]
Free Article
8.

A novel mutation in the calcium channel gene in a family with hypokalemic periodic paralysis.

Hirano M, Kokunai Y, Nagai A, Nakamura Y, Saigoh K, Kusunoki S, Takahashi MP.

J Neurol Sci. 2011 Oct 15;309(1-2):9-11. doi: 10.1016/j.jns.2011.07.046. Epub 2011 Aug 19.

PMID:
21855088
[PubMed - indexed for MEDLINE]
9.

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.

Elbaz A, Vale-Santos J, Jurkat-Rott K, Lapie P, Ophoff RA, Bady B, Links TP, Piussan C, Vila A, Monnier N, et al.

Am J Hum Genet. 1995 Feb;56(2):374-80.

PMID:
7847370
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current.

Jurkat-Rott K, Mitrovic N, Hang C, Kouzmekine A, Iaizzo P, Herzog J, Lerche H, Nicole S, Vale-Santos J, Chauveau D, Fontaine B, Lehmann-Horn F.

Proc Natl Acad Sci U S A. 2000 Aug 15;97(17):9549-54.

PMID:
10944223
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

[Mutation analysis of the CACNL1A3 gene in Japanese hypokalemic periodic paralysis families].

Ikeda Y, Watanabe M, Shoji M.

Nihon Rinsho. 1997 Dec;55(12):3247-52. Review. Japanese.

PMID:
9436445
[PubMed - indexed for MEDLINE]
12.

[The mutation R672H in SCN4A gene exists in Chinese patients with hypokalaemic periodic paralysis].

Ke Q, Xu QG, Huang DH, Yuan HJ, Zhao YL, Wu WP.

Zhonghua Yi Xue Za Zhi. 2006 Mar 21;86(11):724-7. Chinese.

PMID:
16681942
[PubMed - indexed for MEDLINE]
13.

Gene analysis of the calcium channel 1 subunit and clinical studies for two patients with hypokalemic periodic paralysis.

Kageyama K, Terui K, Tsutaya S, Matsuda E, Shoji M, Sakihara S, Nigawara T, Takayasu S, Moriyama T, Yasujima M, Suda T.

J Endocrinol Invest. 2006 Nov;29(10):928-33.

PMID:
17185904
[PubMed - indexed for MEDLINE]
14.

Sodium channel gene mutations in hypokalemic periodic paralysis: an uncommon cause in the UK.

Davies NP, Eunson LH, Samuel M, Hanna MG.

Neurology. 2001 Oct 9;57(7):1323-5.

PMID:
11591859
[PubMed - indexed for MEDLINE]
15.

The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis.

Kim JB, Kim MH, Lee SJ, Kim DJ, Lee BC.

J Korean Med Sci. 2007 Dec;22(6):946-51.

PMID:
18162704
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Progressive muscle atrophy with hypokalemic periodic paralysis and calcium channel mutation.

Meyer T, Jurkat-Rott K, Huebner A, Lehmann-Horn F, Linke P, Van Landeghem F, Dullinger JS, Spuler S.

Muscle Nerve. 2008 Jan;37(1):120-4.

PMID:
17587224
[PubMed - indexed for MEDLINE]
17.

Skeletal muscle dihydropyridine-sensitive calcium channel (CACNA1S) gene mutations in chinese patients with hypokalemic periodic paralysis.

Lin SH, Hsu YD, Cheng NL, Kao MC.

Am J Med Sci. 2005 Feb;329(2):66-70.

PMID:
15711422
[PubMed - indexed for MEDLINE]
18.

A Korean family of hypokalemic periodic paralysis with mutation in a voltage-gated calcium channel (R1239G).

Kim JB, Lee KY, Hur JK.

J Korean Med Sci. 2005 Feb;20(1):162-5.

PMID:
15716625
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Severe prognosis in a large family with hypokalemic periodic paralysis.

Caciotti A, Morrone A, Domenici R, Donati MA, Zammarchi E.

Muscle Nerve. 2003 Feb;27(2):165-9.

PMID:
12548523
[PubMed - indexed for MEDLINE]
20.

Mutation screening in Korean hypokalemic periodic paralysis patients: a novel SCN4A Arg672Cys mutation.

Kim MK, Lee SH, Park MS, Kim BC, Cho KH, Lee MC, Kim JH, Kim SM.

Neuromuscul Disord. 2004 Nov;14(11):727-31.

PMID:
15482957
[PubMed - indexed for MEDLINE]

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