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Items: 1 to 20 of 97

1.

Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita.

Ptácek LJ, George AL Jr, Barchi RL, Griggs RC, Riggs JE, Robertson M, Leppert MF.

Neuron. 1992 May;8(5):891-7.

PMID:
1316765
2.
3.

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
4.

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
5.

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
6.

Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus.

Ptacek LJ, Trimmer JS, Agnew WS, Roberts JW, Petajan JH, Leppert M.

Am J Hum Genet. 1991 Oct;49(4):851-4.

7.

A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg.

Sasaki R, Takano H, Kamakura K, Kaida K, Hirata A, Saito M, Tanaka H, Kuzuhara S, Tsuji S.

Arch Neurol. 1999 Jun;56(6):692-6.

PMID:
10369308
8.

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
9.

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
10.

Characterization of a new sodium channel mutation at arginine 1448 associated with moderate Paramyotonia congenita in humans.

Bendahhou S, Cummins TR, Kwiecinski H, Waxman SG, Ptácek LJ.

J Physiol. 1999 Jul 15;518 ( Pt 2):337-44.

11.

Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita.

McClatchey AI, Trofatter J, McKenna-Yasek D, Raskind W, Bird T, Pericak-Vance M, Gilchrist J, Arahata K, Radosavljevic D, Worthen HG, et al.

Am J Hum Genet. 1992 May;50(5):896-901. Erratum in: Am J Hum Genet. 1992 Oct;51(4):942.

12.

Linkage of atypical myotonia congenita to a sodium channel locus.

Ptacek LJ, Tawil R, Griggs RC, Storvick D, Leppert M.

Neurology. 1992 Feb;42(2):431-3.

PMID:
1310531
13.

Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita.

McClatchey AI, Van den Bergh P, Pericak-Vance MA, Raskind W, Verellen C, McKenna-Yasek D, Rao K, Haines JL, Bird T, Brown RH Jr, et al.

Cell. 1992 Feb 21;68(4):769-74.

PMID:
1310898
14.

Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation.

Chahine M, George AL Jr, Zhou M, Ji S, Sun W, Barchi RL, Horn R.

Neuron. 1994 Feb;12(2):281-94.

PMID:
8110459
15.

Molecular genetic and genetic correlations in sodium channelopathies: lack of founder effect and evidence for a second gene.

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

Am J Hum Genet. 1993 Jun;52(6):1074-84.

16.

Paramyotonia congenita: genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene.

Plassart E, Eymard B, Maurs L, Hauw JJ, Lyon-Caen O, Fardeau M, Fontaine B.

J Neurol Sci. 1996 Oct;142(1-2):126-33.

PMID:
8902732
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.

Paramyotonia congenita without paralysis on exposure to cold: a novel mutation in the SCN4A gene (Val1293Ile).

Koch MC, Baumbach K, George AL, Ricker K.

Neuroreport. 1995 Oct 23;6(15):2001-4.

PMID:
8580427
19.
20.

Muscle sodium channel inactivation defect in paramyotonia congenita with the thr1313met mutation.

Tahmoush AJ, Schaller KL, Zhang P, Hyslop T, Heiman-Patterson T, Caldwell JH.

Neuromuscul Disord. 1994 Sep-Nov;4(5-6):447-54.

PMID:
7533571

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