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Results: 1 to 20 of 27

1.

Characterization of hyperkalemic periodic paralysis: a survey of genetically diagnosed individuals.

Charles G, Zheng C, Lehmann-Horn F, Jurkat-Rott K, Levitt J.

J Neurol. 2013 Oct;260(10):2606-13. doi: 10.1007/s00415-013-7025-9. Epub 2013 Jul 25.

PMID:
23884711
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

A case of myotonic dystrophy with electrolyte imbalance.

Ko WJ, Kim KY, Kim SM, Hong SJ, Lee SH, Song R, Yang HI, Lee YA.

J Korean Med Sci. 2013 Jul;28(7):1111-3. doi: 10.3346/jkms.2013.28.7.1111. Epub 2013 Jul 3.

PMID:
23853500
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Prevalence study of genetically defined skeletal muscle channelopathies in England.

Horga A, Raja Rayan DL, Matthews E, Sud R, Fialho D, Durran SC, Burge JA, Portaro S, Davis MB, Haworth A, Hanna MG.

Neurology. 2013 Apr 16;80(16):1472-5. doi: 10.1212/WNL.0b013e31828cf8d0. Epub 2013 Mar 20.

PMID:
23516313
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Long-term effectiveness of acetazolamide on permanent weakness in hyperkalemic periodic paralysis.

Dejthevaporn C, Papsing C, Phakdeekitcharoen B, Jaovisidha S, Phudhichareonrat S, Witoonpanich R, Pulkes T.

Neuromuscul Disord. 2013 May;23(5):445-9. doi: 10.1016/j.nmd.2013.02.007. Epub 2013 Mar 7.

PMID:
23473731
[PubMed - indexed for MEDLINE]
5.

Voltage-sensor movements describe slow inactivation of voltage-gated sodium channels II: a periodic paralysis mutation in Na(V)1.4 (L689I).

Silva JR, Goldstein SA.

J Gen Physiol. 2013 Mar;141(3):323-34. doi: 10.1085/jgp.201210910. Epub 2013 Feb 11.

PMID:
23401572
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Lessons learned from muscle fatigue: implications for treatment of patients with hyperkalemic periodic paralysis.

Renaud JM, Hayward LJ.

Recent Pat Biotechnol. 2012 Dec;6(3):184-91. Review.

PMID:
23092434
[PubMed - indexed for MEDLINE]
7.

Management of a patient with hyperkalemic periodic paralysis requiring coronary artery bypass grafts.

Patangi SO, Garner M, Powell H.

Ann Card Anaesth. 2012 Oct-Dec;15(4):302-4. doi: 10.4103/0971-9784.101867.

PMID:
23041689
[PubMed - indexed for MEDLINE]
Free Article
8.

Normokalemic periodic paralysis is not a distinct disease.

Song YW, Kim SJ, Heo TH, Kim MH, Kim JB.

Muscle Nerve. 2012 Dec;46(6):914-6. doi: 10.1002/mus.23441. Epub 2012 Aug 24.

PMID:
22926674
[PubMed - indexed for MEDLINE]
9.

Altered fast and slow inactivation of the N440K Nav1.4 mutant in a periodic paralysis syndrome.

Lossin C, Nam TS, Shahangian S, Rogawski MA, Choi SY, Kim MK, Sunwoo IN.

Neurology. 2012 Sep 4;79(10):1033-40. doi: 10.1212/WNL.0b013e3182684683. Epub 2012 Aug 22.

PMID:
22914841
[PubMed - indexed for MEDLINE]
10.

A sodium channel myotonia due to a novel SCN4A mutation accompanied by acquired autoimmune myasthenia gravis.

Kokunai Y, Goto K, Kubota T, Fukuoka T, Sakoda S, Ibi T, Doyu M, Mochizuki H, Sahashi K, Takahashi MP.

Neurosci Lett. 2012 Jun 21;519(1):67-72. doi: 10.1016/j.neulet.2012.05.023. Epub 2012 May 14.

PMID:
22617007
[PubMed - indexed for MEDLINE]
11.

Measuring quality of life impairment in skeletal muscle channelopathies.

Sansone VA, Ricci C, Montanari M, Apolone G, Rose M, Meola G; INQoL Group.

Eur J Neurol. 2012 Nov;19(11):1470-6. doi: 10.1111/j.1468-1331.2012.03751.x. Epub 2012 May 19.

PMID:
22607270
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Hyperkalemic periodic paralysis and permanent weakness: 3-T MR imaging depicts intracellular 23Na overload--initial results.

Amarteifio E, Nagel AM, Weber MA, Jurkat-Rott K, Lehmann-Horn F.

Radiology. 2012 Jul;264(1):154-63. doi: 10.1148/radiol.12110980. Epub 2012 Apr 16.

PMID:
22509051
[PubMed - indexed for MEDLINE]
13.

A novel mutation in SCN4A causes severe myotonia and school-age-onset paralytic episodes.

Yoshinaga H, Sakoda S, Good JM, Takahashi MP, Kubota T, Arikawa-Hirasawa E, Nakata T, Ohno K, Kitamura T, Kobayashi K, Ohtsuka Y.

J Neurol Sci. 2012 Apr 15;315(1-2):15-9. doi: 10.1016/j.jns.2011.12.015. Epub 2012 Jan 16.

PMID:
22257501
[PubMed - indexed for MEDLINE]
14.

A novel N440K sodium channel mutation causes myotonia with exercise-induced weakness--exclusion of CLCN1 exon deletion/duplication by MLPA.

Lehmann-Horn F, Orth M, Kuhn M, Jurkat-Rott K.

Acta Myol. 2011 Oct;30(2):133-7.

PMID:
22106717
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

A sodium channel knockin mutant (NaV1.4-R669H) mouse model of hypokalemic periodic paralysis.

Wu F, Mi W, Burns DK, Fu Y, Gray HF, Struyk AF, Cannon SC.

J Clin Invest. 2011 Oct;121(10):4082-94. doi: 10.1172/JCI57398. Epub 2011 Sep 1.

PMID:
21881211
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Hormonal and pharmacological modification of plasma potassium homeostasis.

Clausen T.

Fundam Clin Pharmacol. 2010 Oct;24(5):595-605. doi: 10.1111/j.1472-8206.2010.00859.x. Review.

PMID:
20618871
[PubMed - indexed for MEDLINE]
18.

Disappearance of episodic weakness during pregnancy in hyperkalemic periodic paralysis from the SCNA4 mutation T704M.

Finsterer J.

Neurologist. 2009 Sep;15(5):289-90. doi: 10.1097/NRL.0b013e31818fc765.

PMID:
19741438
[PubMed - indexed for MEDLINE]
19.

New mutation of the Na channel in the severe form of potassium-aggravated myotonia.

Kubota T, Kinoshita M, Sasaki R, Aoike F, Takahashi MP, Sakoda S, Hirose K.

Muscle Nerve. 2009 May;39(5):666-73. doi: 10.1002/mus.21155.

PMID:
19347921
[PubMed - indexed for MEDLINE]
20.

Periodic paralysis.

Fontaine B.

Adv Genet. 2008;63:3-23. doi: 10.1016/S0065-2660(08)01001-8. Review.

PMID:
19185183
[PubMed - indexed for MEDLINE]

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