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Items: 1 to 20 of 226

1.

Myotonia fluctuans. A third type of muscle sodium channel disease.

Ricker K, Moxley RT 3rd, Heine R, Lehmann-Horn F.

Arch Neurol. 1994 Nov;51(11):1095-102.

PMID:
7980103
2.

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
3.

Genotype-phenotype correlations in human skeletal muscle sodium channel diseases.

Rüdel R, Ricker K, Lehmann-Horn F.

Arch Neurol. 1993 Nov;50(11):1241-8. Review.

PMID:
8215982
4.

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
5.

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
6.

A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity.

Wagner S, Lerche H, Mitrovic N, Heine R, George AL, Lehmann-Horn F.

Neurology. 1997 Oct;49(4):1018-25.

PMID:
9339683
7.

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
8.

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.

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
11.

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
12.

A novel SCN4A mutation causing myotonia aggravated by cold and potassium.

Heine R, Pika U, Lehmann-Horn F.

Hum Mol Genet. 1993 Sep;2(9):1349-53.

PMID:
8242056
13.

Myotonia fluctuans.

Ricker K, Lehmann-Horn F, Moxley RT 3rd.

Arch Neurol. 1990 Mar;47(3):268-72.

PMID:
2310311
14.

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
15.

[A girl with hereditary myotonia due to an exceptional sodium channel mutation].

van den Bergen JC, Verbruggen KT, Ginjaar HB, Kerstjens-Frederikse WS.

Ned Tijdschr Geneeskd. 2006 Nov 11;150(45):2501-6. Dutch.

PMID:
17137100
16.

From mutation to myotonia in sodium channel disorders.

Cannon SC.

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

PMID:
9196906
17.

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
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
19.

[A family with heat-sensitive myotonia alternating with hypokalemic periodic paralysis].

Aoki T, Sugiura Y, Sugiyama Y, Ogata M, Hida C, Honma M, Yamamoto T.

Rinsho Shinkeigaku. 2000 Apr;40(4):358-63. Japanese.

PMID:
10967653
20.

Cold extends electromyography distinction between ion channel mutations causing myotonia.

Fournier E, Viala K, Gervais H, Sternberg D, Arzel-Hézode M, Laforêt P, Eymard B, Tabti N, Willer JC, Vial C, Fontaine B.

Ann Neurol. 2006 Sep;60(3):356-65.

PMID:
16786525

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