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Items: 1 to 20 of 290

1.

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
2.

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
3.

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
4.

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
5.

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
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.

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
8.

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
11.

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
12.

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
13.

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
14.

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
15.

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
16.

[A Japanese family with paramyotonia congenita which has a mutation in the muscle sodium channel gene].

Ochi H, Yamada T, Hara H, Yoshimura T, Kobayashi T.

Rinsho Shinkeigaku. 1995 Aug;35(8):893-6. Japanese.

PMID:
8665733
17.

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
18.

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.

19.

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
20.

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