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Journal Abstract Search

200 related items for PubMed ID: 1310531

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  • 6. 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. PubMed ID: 1379356
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  • 7. 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; 50(5):896-901. PubMed ID: 1315122
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  • 10. 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. PubMed ID: 7721550
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  • 11. Evidence of genetic heterogeneity among the nondystrophic myotonias.
    Ptacek LJ, Ziter FA, Roberts JW, Leppert MF.
    Neurology; 1992 May; 42(5):1046-8. PubMed ID: 1315941
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  • 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, Barchi RL, Robertson M, Leppert MF.
    Ann Neurol; 1993 Mar; 33(3):300-7. PubMed ID: 8388676
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  • 15. 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. PubMed ID: 8580427
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  • 16. 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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  • 17. Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita.
    Ptácek LJ, George AL, Barchi RL, Griggs RC, Riggs JE, Robertson M, Leppert MF.
    Neuron; 1992 May 21; 8(5):891-7. PubMed ID: 1316765
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  • 18. A novel muscle sodium channel mutation causes painful congenital myotonia.
    Rosenfeld J, Sloan-Brown K, George AL.
    Ann Neurol; 1997 Nov 21; 42(5):811-4. PubMed ID: 9392583
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  • 19. Linkage studies of Myotonia congenita and Paramyotonia congenita.
    Bender K, Senff H, Steiert A, Lagodny H, Wienker TF, Koch M.
    Clin Genet; 1989 Aug 21; 36(2):92-9. PubMed ID: 2766573
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  • 20. Paralysis periodica paramyotonica caused by SCN4A Arg1448Cys mutation.
    Hsu WC, Huang YC, Wang CW, Hsueh CH, Lai LP, Yeh JH.
    J Formos Med Assoc; 2006 Jun 21; 105(6):503-7. PubMed ID: 16801039
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