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90 related items for PubMed ID: 1339144

  • 1. The genomic structure of the human skeletal muscle sodium channel gene.
    McClatchey AI, Lin CS, Wang J, Hoffman EP, Rojas C, Gusella JF.
    Hum Mol Genet; 1992 Oct; 1(7):521-7. PubMed ID: 1339144
    [Abstract] [Full Text] [Related]

  • 2. Genomic organization of the human skeletal muscle sodium channel gene.
    George AL, Iyer GS, Kleinfield R, Kallen RG, Barchi RL.
    Genomics; 1993 Mar; 15(3):598-606. PubMed ID: 8385647
    [Abstract] [Full Text] [Related]

  • 3. Genomic organization and chromosomal assignment of the human voltage-gated Na+ channel beta 1 subunit gene (SCN1B).
    Makita N, Sloan-Brown K, Weghuis DO, Ropers HH, George AL.
    Genomics; 1994 Oct; 23(3):628-34. PubMed ID: 7851891
    [Abstract] [Full Text] [Related]

  • 4. Physical linkage of the human growth hormone gene cluster and the skeletal muscle sodium channel alpha-subunit gene (SCN4A) on chromosome 17.
    Bennani-Baiti IM, Jones BK, Liebhaber SA, Cooke NE.
    Genomics; 1995 Oct 10; 29(3):647-52. PubMed ID: 8575757
    [Abstract] [Full Text] [Related]

  • 5. Genomic organization of the human SCN5A gene encoding the cardiac sodium channel.
    Wang Q, Li Z, Shen J, Keating MT.
    Genomics; 1996 May 15; 34(1):9-16. PubMed ID: 8661019
    [Abstract] [Full Text] [Related]

  • 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.
    Ann Neurol; 1991 Dec 15; 30(6):810-6. PubMed ID: 1686388
    [Abstract] [Full Text] [Related]

  • 7. Linkage of malignant hyperthermia and hyperkalemic periodic paralysis to the adult skeletal muscle sodium channel (SCN4A) gene in a large pedigree.
    Moslehi R, Langlois S, Yam I, Friedman JM.
    Am J Med Genet; 1998 Feb 26; 76(1):21-7. PubMed ID: 9508059
    [Abstract] [Full Text] [Related]

  • 8. 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 26; 56(6):692-6. PubMed ID: 10369308
    [Abstract] [Full Text] [Related]

  • 9. 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 26; 42(8):1561-4. PubMed ID: 1379356
    [Abstract] [Full Text] [Related]

  • 10. 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 26; 50(5):896-901. PubMed ID: 1315122
    [Abstract] [Full Text] [Related]

  • 11. Sequence and genomic structure of the human adult skeletal muscle sodium channel alpha subunit gene on 17q.
    Wang JZ, Rojas CV, Zhou JH, Schwartz LS, Nicholas H, Hoffman EP.
    Biochem Biophys Res Commun; 1992 Jan 31; 182(2):794-801. PubMed ID: 1310396
    [Abstract] [Full Text] [Related]

  • 12. The alpha-subunit of the skeletal muscle sodium channel is encoded proximal to Tk-1 on mouse chromosome 11.
    Ambrose C, Cheng S, Fontaine B, Nadeau JH, MacDonald M, Gusella JF.
    Mamm Genome; 1992 Jan 31; 3(3):151-5. PubMed ID: 1352160
    [Abstract] [Full Text] [Related]

  • 13. 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 31; 8(5):891-7. PubMed ID: 1316765
    [Abstract] [Full Text] [Related]

  • 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.
    Nat Genet; 1992 Oct 31; 2(2):148-52. PubMed ID: 1338909
    [Abstract] [Full Text] [Related]

  • 15. Primary structure of the adult human skeletal muscle voltage-dependent sodium channel.
    George AL, Komisarof J, Kallen RG, Barchi RL.
    Ann Neurol; 1992 Feb 31; 31(2):131-7. PubMed ID: 1315496
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 17. Structural organisation of the gene encoding the alpha-subunit of the human amiloride-sensitive epithelial sodium channel.
    Ludwig M, Bolkenius U, Wickert L, Marynen P, Bidlingmaier F.
    Hum Genet; 1998 May 21; 102(5):576-81. PubMed ID: 9654208
    [Abstract] [Full Text] [Related]

  • 18. Cloning and characterization of a mouse sensory neuron tetrodotoxin-resistant voltage-gated sodium channel gene, Scn10a.
    Souslova VA, Fox M, Wood JN, Akopian AN.
    Genomics; 1997 Apr 15; 41(2):201-9. PubMed ID: 9143495
    [Abstract] [Full Text] [Related]

  • 19. Molecular characterization of the gene encoding the gamma subunit of the human skeletal muscle 1,4-dihydropyridine-sensitive Ca2+ channel (CACNLG), cDNA sequence, gene structure, and chromosomal location.
    Powers PA, Liu S, Hogan K, Gregg RG.
    J Biol Chem; 1993 May 05; 268(13):9275-9. PubMed ID: 8387489
    [Abstract] [Full Text] [Related]

  • 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 05; 33(3):300-7. PubMed ID: 8388676
    [Abstract] [Full Text] [Related]

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