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Items: 1 to 20 of 96

1.

Primary structure of the adult human skeletal muscle voltage-dependent sodium channel.

George AL Jr, Komisarof J, Kallen RG, Barchi RL.

Ann Neurol. 1992 Feb;31(2):131-7.

PMID:
1315496
2.

Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene.

Ebers GC, George AL, Barchi RL, Ting-Passador SS, Kallen RG, Lathrop GM, Beckmann JS, Hahn AF, Brown WF, Campbell RD, et al.

Ann Neurol. 1991 Dec;30(6):810-6.

PMID:
1686388
3.
4.

Genomic organization of the human skeletal muscle sodium channel gene.

George AL Jr, Iyer GS, Kleinfield R, Kallen RG, Barchi RL.

Genomics. 1993 Mar;15(3):598-606.

PMID:
8385647
5.
6.

A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis.

Rojas CV, Wang JZ, Schwartz LS, Hoffman EP, Powell BR, Brown RH Jr.

Nature. 1991 Dec 5;354(6352):387-9.

PMID:
1659668
7.

Identification of a mutation in the gene causing hyperkalemic periodic paralysis.

Ptácek LJ, George AL Jr, Griggs RC, Tawil R, Kallen RG, Barchi RL, Robertson M, Leppert MF.

Cell. 1991 Nov 29;67(5):1021-7.

PMID:
1659948
8.

Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis.

Ptacek LJ, Gouw L, Kwieciński H, McManis P, Mendell JR, Barohn RJ, George AL Jr, Barchi RL, Robertson M, Leppert MF.

Ann Neurol. 1993 Mar;33(3):300-7.

PMID:
8388676
9.

The genomic structure of the human skeletal muscle sodium channel gene.

McClatchey AI, Lin CS, Wang J, Hoffman EP, Rojas C, Gusella JF.

Hum Mol Genet. 1992 Oct;1(7):521-7.

PMID:
1339144
10.

Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutations.

Plassart E, Reboul J, Rime CS, Recan D, Millasseau P, Eymard B, Pelletier J, Thomas C, Chapon F, Desnuelle C, et al.

Eur J Hum Genet. 1994;2(2):110-24.

PMID:
8044656
11.

[Familial hyperkalemic periodic paralysis: a brief review of the adult human skeletal muscle sodium channel and the application of LA-PCR to the SCN4A gene analysis].

Sakoda S, Nakagawa M, Arimura Y, Arimura K, Osame M.

Nihon Rinsho. 1997 Dec;55(12):3253-8. Review. Japanese.

PMID:
9436446
13.
14.
15.

Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis.

Ptáĉek LJ, Tawil R, Griggs RC, Meola G, McManis P, Barohn RJ, Mendell JR, Harris C, Spitzer R, Santiago F, et al.

Neurology. 1994 Aug;44(8):1500-3.

PMID:
8058156
16.
17.

Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel.

McClatchey AI, McKenna-Yasek D, Cros D, Worthen HG, Kuncl RW, DeSilva SM, Cornblath DR, Gusella JF, Brown RH Jr.

Nat Genet. 1992 Oct;2(2):148-52.

PMID:
1338909
18.

Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene.

Fontaine B, Khurana TS, Hoffman EP, Bruns GA, Haines JL, Trofatter JA, Hanson MP, Rich J, McFarlane H, Yasek DM, et al.

Science. 1990 Nov 16;250(4983):1000-2.

PMID:
2173143
19.

The skeletal muscle sodium and chloride channel diseases.

Hudson AJ, Ebers GC, Bulman DE.

Brain. 1995 Apr;118 ( Pt 2):547-63. Review.

PMID:
7735894
20.

Molecular cloning of a putative tetrodotoxin-resistant rat heart Na+ channel isoform.

Rogart RB, Cribbs LL, Muglia LK, Kephart DD, Kaiser MW.

Proc Natl Acad Sci U S A. 1989 Oct;86(20):8170-4.

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