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128 related items for PubMed ID: 1639409

  • 1. Refinement of diagnostic assays for a probable causal mutation for porcine and human malignant hyperthermia.
    Otsu K, Phillips MS, Khanna VK, de Leon S, MacLennan DH.
    Genomics; 1992 Jul; 13(3):835-7. PubMed ID: 1639409
    [Abstract] [Full Text] [Related]

  • 2. Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia.
    Fujii J, Otsu K, Zorzato F, de Leon S, Khanna VK, Weiler JE, O'Brien PJ, MacLennan DH.
    Science; 1991 Jul 26; 253(5018):448-51. PubMed ID: 1862346
    [Abstract] [Full Text] [Related]

  • 3. Cosegregation of porcine malignant hyperthermia and a probable causal mutation in the skeletal muscle ryanodine receptor gene in backcross families.
    Otsu K, Khanna VK, Archibald AL, MacLennan DH.
    Genomics; 1991 Nov 26; 11(3):744-50. PubMed ID: 1774073
    [Abstract] [Full Text] [Related]

  • 4. Genomic organization and analysis of the 5' end of the porcine ryanodine receptor gene (ryr1).
    Brenig B, Brem G.
    FEBS Lett; 1992 Feb 24; 298(2-3):277-9. PubMed ID: 1312025
    [Abstract] [Full Text] [Related]

  • 5. Co-segregation of the malignant hyperthermia and the Arg615-Cys615 mutation in the skeletal muscle calcium release channel protein in five European Landrace and Pietrain pig breeds.
    Vögeli P, Bolt R, Fries R, Stranzinger G.
    Anim Genet; 1994 Jun 24; 25 Suppl 1():59-66. PubMed ID: 7943985
    [Abstract] [Full Text] [Related]

  • 6. Malignant hyperthermia.
    MacLennan DH, Phillips MS.
    Science; 1992 May 08; 256(5058):789-94. PubMed ID: 1589759
    [Abstract] [Full Text] [Related]

  • 7. A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia.
    Gillard EF, Otsu K, Fujii J, Khanna VK, de Leon S, Derdemezi J, Britt BA, Duff CL, Worton RG, MacLennan DH.
    Genomics; 1991 Nov 08; 11(3):751-5. PubMed ID: 1774074
    [Abstract] [Full Text] [Related]

  • 8. The genetic basis of malignant hyperthermia.
    MacLennan DH.
    Trends Pharmacol Sci; 1992 Aug 08; 13(8):330-4. PubMed ID: 1329295
    [Abstract] [Full Text] [Related]

  • 9. The role of the skeletal muscle ryanodine receptor gene in malignant hyperthermia.
    MacLennan DH, Otsu K, Fujii J, Zorzato F, Phillips MS, O'Brien PJ, Archibald AL, Britt BA, Gillard EF, Worton RG.
    Symp Soc Exp Biol; 1992 Aug 08; 46():189-201. PubMed ID: 1341035
    [Abstract] [Full Text] [Related]

  • 10. Detection of the ryanodine receptor mutation associated with malignant hyperthermia in purebred swine populations.
    Houde A, Pommier SA, Roy R.
    J Anim Sci; 1993 Jun 08; 71(6):1414-8. PubMed ID: 8392045
    [Abstract] [Full Text] [Related]

  • 11. Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia.
    Gillard EF, Otsu K, Fujii J, Duff C, de Leon S, Khanna VK, Britt BA, Worton RG, MacLennan DH.
    Genomics; 1992 Aug 08; 13(4):1247-54. PubMed ID: 1354642
    [Abstract] [Full Text] [Related]

  • 12. Autosomal dominant canine malignant hyperthermia is caused by a mutation in the gene encoding the skeletal muscle calcium release channel (RYR1).
    Roberts MC, Mickelson JR, Patterson EE, Nelson TE, Armstrong PJ, Brunson DB, Hogan K.
    Anesthesiology; 2001 Sep 08; 95(3):716-25. PubMed ID: 11575546
    [Abstract] [Full Text] [Related]

  • 13. [In vitro contracture test and gene typing in diagnosing malignant hyperthermia. Each as an appropriate complement to the other method].
    Rüffert H, Olthoff D, Deutrich C, Thamm B, Froster U.
    Anaesthesist; 2000 Feb 08; 49(2):113-20. PubMed ID: 10756965
    [Abstract] [Full Text] [Related]

  • 14. A cysteine-for-arginine substitution (R614C) in the human skeletal muscle calcium release channel cosegregates with malignant hyperthermia.
    Hogan K, Couch F, Powers PA, Gregg RG.
    Anesth Analg; 1992 Sep 08; 75(3):441-8. PubMed ID: 1510267
    [Abstract] [Full Text] [Related]

  • 15. Ryanodine receptor mutations in malignant hyperthermia and central core disease.
    McCarthy TV, Quane KA, Lynch PJ.
    Hum Mutat; 2000 Sep 08; 15(5):410-7. PubMed ID: 10790202
    [Abstract] [Full Text] [Related]

  • 16. Association of a mutation in the ryanodine receptor 1 gene with equine malignant hyperthermia.
    Aleman M, Riehl J, Aldridge BM, Lecouteur RA, Stott JL, Pessah IN.
    Muscle Nerve; 2004 Sep 08; 30(3):356-65. PubMed ID: 15318347
    [Abstract] [Full Text] [Related]

  • 17. The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene.
    Phillips MS, Fujii J, Khanna VK, DeLeon S, Yokobata K, de Jong PJ, MacLennan DH.
    Genomics; 1996 May 15; 34(1):24-41. PubMed ID: 8661021
    [Abstract] [Full Text] [Related]

  • 18. Detection of a novel ryanodine receptor subtype 1 mutation (R328W) in a malignant hyperthermia family by sequencing of a leukocyte transcript.
    Loke JC, Kraev N, Sharma P, Du G, Patel L, Kraev A, MacLennan DH.
    Anesthesiology; 2003 Aug 15; 99(2):297-302. PubMed ID: 12883402
    [Abstract] [Full Text] [Related]

  • 19. Structural and functional correlates of a mutation in the malignant hyperthermia-susceptible pig ryanodine receptor.
    Mickelson JR, Knudson CM, Kennedy CF, Yang DI, Litterer LA, Rempel WE, Campbell KP, Louis CF.
    FEBS Lett; 1992 Apr 13; 301(1):49-52. PubMed ID: 1333412
    [Abstract] [Full Text] [Related]

  • 20. Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.
    Galli L, Orrico A, Lorenzini S, Censini S, Falciani M, Covacci A, Tegazzin V, Sorrentino V.
    Hum Mutat; 2006 Aug 13; 27(8):830. PubMed ID: 16835904
    [Abstract] [Full Text] [Related]

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