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Results: 1 to 20 of 413

1.

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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - indexed for MEDLINE]
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.

PMID:
1654742
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
9.

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.

PMID:
1315122
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

[Molecular genetics of sodium channel myopathies].

Ruscák J.

Bratisl Lek Listy. 1997 Dec;98(12):701-7. Review. Slovak.

PMID:
9525070
[PubMed - indexed for MEDLINE]
11.

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
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

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
[PubMed - indexed for MEDLINE]
14.

Activation and inactivation of the voltage-gated sodium channel: role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation.

Bendahhou S, Cummins TR, Tawil R, Waxman SG, Ptácek LJ.

J Neurosci. 1999 Jun 15;19(12):4762-71.

PMID:
10366610
[PubMed - indexed for MEDLINE]
Free Article
15.

From mutation to myotonia in sodium channel disorders.

Cannon SC.

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

PMID:
9196906
[PubMed - indexed for MEDLINE]
16.

Channelopathies: ion channel disorders of muscle as a paradigm for paroxysmal disorders of the nervous system.

Ptácek LJ.

Neuromuscul Disord. 1997 Jun;7(4):250-5. Review.

PMID:
9196907
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
18.

Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5.

Bendahhou S, Cummins TR, Kula RW, Fu YH, Ptácek LJ.

Neurology. 2002 Apr 23;58(8):1266-72.

PMID:
11971097
[PubMed - indexed for MEDLINE]
19.

A novel N440K sodium channel mutation causes myotonia with exercise-induced weakness--exclusion of CLCN1 exon deletion/duplication by MLPA.

Lehmann-Horn F, Orth M, Kuhn M, Jurkat-Rott K.

Acta Myol. 2011 Oct;30(2):133-7.

PMID:
22106717
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

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
[PubMed - indexed for MEDLINE]

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