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Items: 1 to 20 of 184

1.

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
2.

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
3.

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
4.

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.

5.

Linkage analysis of candidate loci in autosomal dominant myotonia congenita.

Abdalla JA, Casley WL, Hudson AJ, Murphy EG, Cousin HK, Armstrong HA, Ebers GC.

Neurology. 1992 Aug;42(8):1561-4.

PMID:
1379356
6.

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
7.

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
8.

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
9.

Mutation in the S4 segment of the adult skeletal sodium channel gene in an Italian paramyotonia congenita (PC) family.

Sansone V, Rotondo G, Ptacek LJ, Meola G.

Ital J Neurol Sci. 1994 Dec;15(9):473-80.

PMID:
7721550
10.

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.

11.

Evidence of genetic heterogeneity among the nondystrophic myotonias.

Ptacek LJ, Ziter FA, Roberts JW, Leppert MF.

Neurology. 1992 May;42(5):1046-8.

PMID:
1315941
12.

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
13.

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
14.

From mutation to myotonia in sodium channel disorders.

Cannon SC.

Neuromuscul Disord. 1997 Jun;7(4):241-9. Review.

PMID:
9196906
15.

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
16.

A novel muscle sodium channel mutation causes painful congenital myotonia.

Rosenfeld J, Sloan-Brown K, George AL Jr.

Ann Neurol. 1997 Nov;42(5):811-4.

PMID:
9392583
17.

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
18.

Analysis in a large hyperkalemic periodic paralysis pedigree supports tight linkage to a sodium channel locus.

Ptacek LJ, Tyler F, Trimmer JS, Agnew WS, Leppert M.

Am J Hum Genet. 1991 Aug;49(2):378-82.

19.

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
20.
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