Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 107

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. doi: 10.1016/j.jocn.2010.12.035. Epub 2011 Jun 12.

PMID:
21665479
[PubMed - indexed for MEDLINE]
2.

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.

PMID:
11309455
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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. Epub 2006 Apr 19.

PMID:
16624558
[PubMed - indexed for MEDLINE]
4.

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 28;60(2):340-2.

PMID:
12552059
[PubMed - indexed for MEDLINE]
5.

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. doi: 10.1097/NRL.0b013e3181a3cb6c.

PMID:
20445432
[PubMed - indexed for MEDLINE]
6.

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 22;53(7):1549-55.

PMID:
10534266
[PubMed - indexed for MEDLINE]
7.

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. Epub 2007 Nov 29.

PMID:
18046642
[PubMed - indexed for MEDLINE]
8.

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 22;73(12):993-5. doi: 10.1212/WNL.0b013e3181b87959. No abstract available.

PMID:
19770477
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

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 5;121(19):1915-9.

PMID:
19080124
[PubMed - indexed for MEDLINE]
10.

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.

PMID:
17823953
[PubMed - indexed for MEDLINE]
11.

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
12.

Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A.

Brancati F, Valente EM, Davies NP, Sarkozy A, Sweeney MG, LoMonaco M, Pizzuti A, Hanna MG, Dallapiccola B.

J Neurol Neurosurg Psychiatry. 2003 Sep;74(9):1339-41.

PMID:
12933953
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Clinical, electrophysiological, and molecular genetic studies in a new family with paramyotonia congenita.

Davies NP, Eunson LH, Gregory RP, Mills KR, Morrison PJ, Hanna MG.

J Neurol Neurosurg Psychiatry. 2000 Apr;68(4):504-7. Erratum in: J Neurol Neurosurg Psychiatry 2000 Jul;69(1):139.

PMID:
10727489
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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.

PMID:
16801039
[PubMed - indexed for MEDLINE]
15.

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]
16.

Human skeletal muscle sodium channelopathies.

Vicart S, Sternberg D, Fontaine B, Meola G.

Neurol Sci. 2005 Oct;26(4):194-202. Review.

PMID:
16193245
[PubMed - indexed for MEDLINE]
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.

PMID:
12483017
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Permanent myopathy caused by mutation of SCN4A Metl592Val: Observation on myogenesis in vitro and on effect of basic fibroblast growth factor on the muscle.

Feng Y, Wang H, Luo XG, Ren Y.

Neurosci Bull. 2009 Apr;25(2):61-6. doi: 10.1007/s12264-009-0926-2.

PMID:
19290024
[PubMed - indexed for MEDLINE]
19.

Paramyotonia congenita and hyperkalemic periodic paralysis associated with a Met 1592 Val substitution in the skeletal muscle sodium channel alpha subunit--a large kindred with a novel phenotype.

Kelly P, Yang WS, Costigan D, Farrell MA, Murphy S, Hardiman O.

Neuromuscul Disord. 1997 Mar;7(2):105-11.

PMID:
9131651
[PubMed - indexed for MEDLINE]
20.

[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. French.

PMID:
18033047
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk