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Items: 1 to 20 of 184

1.
2.

Hyperkalemic periodic paralysis with cardiac dysrhythmia: a novel sodium channel mutation?

Baquero JL, Ayala RA, Wang J, Curless RG, Feero WG, Hoffman EP, Ebeid MR.

Ann Neurol. 1995 Mar;37(3):408-11.

PMID:
7695243
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4.

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
5.

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
6.

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
7.

Hyperkalemic periodic paralysis: rapid molecular diagnosis and relationship of genotype to phenotype in 12 families.

Feero WG, Wang J, Barany F, Zhou J, Todorovic SM, Conwit R, Galloway G, Hausmanowa-Petrusewicz I, Fidzianska A, Arahata K, et al.

Neurology. 1993 Apr;43(4):668-73.

PMID:
8385748
8.

Identification of a Thr-to-Met mutation in the skeletal muscle sodium channel gene in hyperkalemic periodic paralysis of a Japanese family.

Arahata K, Wang J, Feero WG, Hayakawa H, Honda K, Sugita H, Hoffman EP.

Ann N Y Acad Sci. 1993 Dec 20;707:342-5. No abstract available.

PMID:
9137564
9.

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
10.
11.

Linkage data suggesting allelic heterogeneity for paramyotonia congenita and hyperkalemic periodic paralysis on chromosome 17.

Koch MC, Ricker K, Otto M, Grimm T, Bender K, Zoll B, Harper PS, Lehmann-Horn F, Rüdel R, Hoffman EP.

Hum Genet. 1991 Nov;88(1):71-4.

PMID:
1660029
12.

[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.

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
14.

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
15.

Hyperkalemic periodic paralysis caused by recurring mutation in the adult muscle sodium channel alpha-subunit gene.

Sillén A, Wadelius C, Sundvall M, Ahlsten G, Gustavson KH.

Genet Couns. 1996;7(4):267-75.

PMID:
8985730
16.

Human disease hyperkalemic periodic paralysis is due to mutation in sodium channel alpha-subunit gene.

Kumar S.

Indian J Exp Biol. 1991 May;29(5):499. No abstract available.

PMID:
1655643
17.

Different gene loci for hyperkalemic and hypokalemic periodic paralysis.

Fontaine B, Trofatter J, Rouleau GA, Khurana TS, Haines J, Brown R, Gusella JF.

Neuromuscul Disord. 1991;1(4):235-8.

PMID:
1822800
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 22;53(7):1549-55.

PMID:
10534266
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