135 related articles for article (PubMed ID: 21665479)
1. Severe phenotypes of paralysis periodica paramyotonia are associated with the Met1592Val mutation in the voltage-gated sodium channel gene (SCN4A) in a Chinese family.
Feng Y; Ji X; Sun X; Wang H; Zhang C
J Clin Neurosci; 2011 Aug; 18(8):1138-40. PubMed ID: 21665479
[TBL] [Abstract][Full Text] [Related]
2. A new case of autosomal dominant myotonia associated with the V1589M missense mutation in the muscle sodium channel gene and its phenotypic classification.
Ferriby D; Stojkovic T; Sternberg D; Hurtevent JF; Hurtevent JP; Vermersch P
Neuromuscul Disord; 2006 May; 16(5):321-4. PubMed ID: 16624558
[TBL] [Abstract][Full Text] [Related]
3. A case of paramyotonia congenita without periodic paralysis: electrophysiological and molecular genetic studies.
Park JH; Lee YW; Park SA; Lee TK; Rho HJ; Sung KB
Neurologist; 2010 May; 16(3):203-5. PubMed ID: 20445432
[TBL] [Abstract][Full Text] [Related]
4. Exercise test on the patients with normokalaemic periodic paralysis from a Chinese family with a mutation in the SCN4A gene.
Feng Y; Zhang Y; Liu ZL; Zhang CD
Chin Med J (Engl); 2008 Oct; 121(19):1915-9. PubMed ID: 19080124
[TBL] [Abstract][Full Text] [Related]
5. Reduced muscle-fiber conduction but normal slowing after cold exposure in paramyotonia congenita.
Blijham PJ; Drost G; Stegeman DF; Zwarts MJ
Muscle Nerve; 2008 Jan; 37(1):23-6. PubMed ID: 17823953
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 19347921
[TBL] [Abstract][Full Text] [Related]
7. Human skeletal muscle sodium channelopathies.
Vicart S; Sternberg D; Fontaine B; Meola G
Neurol Sci; 2005 Oct; 26(4):194-202. PubMed ID: 16193245
[TBL] [Abstract][Full Text] [Related]
8. Phenotypic variation of a Thr704Met mutation in skeletal sodium channel gene in a family with paralysis periodica paramyotonica.
Kim J; Hahn Y; Sohn EH; Lee YJ; Yun JH; Kim JM; Chung JH
J Neurol Neurosurg Psychiatry; 2001 May; 70(5):618-23. PubMed ID: 11309455
[TBL] [Abstract][Full Text] [Related]
9. A patient with episodic ataxia and paramyotonia congenita due to mutations in KCNA1 and SCN4A.
Rajakulendran S; Tan SV; Matthews E; Tomlinson SE; Labrum R; Sud R; Kullmann DM; Schorge S; Hanna MG
Neurology; 2009 Sep; 73(12):993-5. PubMed ID: 19770477
[No Abstract] [Full Text] [Related]
10. Paramyotonia congenita with an SCN4A mutation affecting cardiac repolarization.
Péréon Y; Lande G; Demolombe S; Nguyen The Tich S; Sternberg D; Le Marec H; David A
Neurology; 2003 Jan; 60(2):340-2. PubMed ID: 12552059
[TBL] [Abstract][Full Text] [Related]
11. N1366S mutation of human skeletal muscle sodium channel causes paramyotonia congenita.
Ke Q; Ye J; Tang S; Wang J; Luo B; Ji F; Zhang X; Yu Y; Cheng X; Li Y
J Physiol; 2017 Nov; 595(22):6837-6850. PubMed ID: 28940424
[TBL] [Abstract][Full Text] [Related]
12. Efficacy of propafenone in paramyotonia congenita.
Alfonsi E; Merlo IM; Tonini M; Ravaglia S; Brugnoni R; Gozzini A; Moglia A
Neurology; 2007 Mar; 68(13):1080-1. PubMed ID: 17389319
[No Abstract] [Full Text] [Related]
13. Paralysis periodica paramyotonica caused by SCN4A Arg1448Cys mutation.
Hsu WC; Huang YC; Wang CW; Hsueh CH; Lai LP; Yeh JH
J Formos Med Assoc; 2006 Jun; 105(6):503-7. PubMed ID: 16801039
[TBL] [Abstract][Full Text] [Related]
14. A novel muscle sodium channel mutation causes painful congenital myotonia.
Rosenfeld J; Sloan-Brown K; George AL
Ann Neurol; 1997 Nov; 42(5):811-4. PubMed ID: 9392583
[TBL] [Abstract][Full Text] [Related]
15. Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis.
Xiuhai G; Weiping W; Ke Z; Hongbin W; Yiling S; MaoYanling
Cell Mol Neurobiol; 2008 Aug; 28(5):653-61. PubMed ID: 18046642
[TBL] [Abstract][Full Text] [Related]
16. A large German kindred with cold-aggravated myotonia and a heterozygous A1481D mutation in the SCN4A gene.
Schoser BG; Schröder JM; Grimm T; Sternberg D; Kress W
Muscle Nerve; 2007 May; 35(5):599-606. PubMed ID: 17212350
[TBL] [Abstract][Full Text] [Related]
17. A Korean family with Arg1448Cys mutation of SCN4A channel causing paramyotonia congenita: electrophysiologic, histopathologic, and molecular genetic studies.
Kim DS; Kim EJ; Jung DS; Park KH; Kim IJ; Kwak KY; Kim CM; Ko HY
J Korean Med Sci; 2002 Dec; 17(6):856-60. PubMed ID: 12483017
[TBL] [Abstract][Full Text] [Related]
18. Lack of sodium channel mutation in an Italian family with paramyotonia congenita.
Sampaolo S; Puca AA; Nigro V; Cappa V; Sannino V; Sanges G; Bonavita V; Di Iorio G
Neurology; 1999 Oct; 53(7):1549-55. PubMed ID: 10534266
[TBL] [Abstract][Full Text] [Related]
19. [Eulenburg's paramyotonia congenita].
Sallansonnet-Froment M; Bounolleau P; De Greslan T; Ricard D; Taillia H; Renard JL
Rev Neurol (Paris); 2007 Nov; 163(11):1083-90. PubMed ID: 18033047
[TBL] [Abstract][Full Text] [Related]
20. Prolonged attacks of weakness with hypokalemia in SCN4A-related paramyotonia congenita.
van Osch T; Stunnenberg BC; Sternberg D; Kerklaan BJ
Muscle Nerve; 2018 Oct; 58(4):E27-E28. PubMed ID: 30028520
[No Abstract] [Full Text] [Related]
[Next] [New Search]