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Journal Abstract Search


167 related items for PubMed ID: 1310898

  • 1. 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.
    Cell; 1992 Feb 21; 68(4):769-74. PubMed ID: 1310898
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  • 2. 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 21; 56(6):692-6. PubMed ID: 10369308
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  • 7. 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 Jun 21; 4(5-6):447-54. PubMed ID: 7533571
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  • 9. A skeletal muscle sodium channel mutation in a Japanese family with paramyotonia congenita.
    Yamada T, Ochi H, Hara H, Yoshimura T, Kobayashi T.
    J Neurol Sci; 1995 Nov 21; 133(1-2):192-3. PubMed ID: 8583225
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  • 10. 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 21; 88(1):71-4. PubMed ID: 1660029
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  • 13. N1366S mutation of human skeletal muscle sodium channel causes paramyotonia congenita.
    Ke Q, Ye J, Tang S, Wang J, Luo B, Ji F, Zhang X, Yu Y, Cheng X, Li Y.
    J Physiol; 2017 Nov 15; 595(22):6837-6850. PubMed ID: 28940424
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  • 15. 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; 15(9):473-80. PubMed ID: 7721550
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  • 16. 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)(Pt 2):337-44. PubMed ID: 10381583
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  • 17. 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.
    Neurology; 1994 Aug 15; 44(8):1500-3. PubMed ID: 8058156
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  • 18. 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.
    Am J Hum Genet; 1992 May 15; 50(5):896-901. PubMed ID: 1315122
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  • 20. Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis.
    Ptacek LJ, Gouw L, Kwieciński H, McManis P, Mendell JR, Barohn RJ, George AL, Barchi RL, Robertson M, Leppert MF.
    Ann Neurol; 1993 Mar 15; 33(3):300-7. PubMed ID: 8388676
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