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Journal Abstract Search

122 related items for PubMed ID: 1510267

  • 1. 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; 75(3):441-8. PubMed ID: 1510267
    [Abstract] [Full Text] [Related]

  • 2. 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; 11(3):751-5. PubMed ID: 1774074
    [Abstract] [Full Text] [Related]

  • 3. Search for three known mutations in the RYR1 gene in 48 Danish families with malignant hyperthermia.
    Fagerlund T, Ording H, Bendixen D, Berg K.
    Clin Genet; 1994 Dec; 46(6):401-4. PubMed ID: 7889656
    [Abstract] [Full Text] [Related]

  • 4. Identification of heterozygous and homozygous individuals with the novel RYR1 mutation Cys35Arg in a large kindred.
    Lynch PJ, Krivosic-Horber R, Reyford H, Monnier N, Quane K, Adnet P, Haudecoeur G, Krivosic I, McCarthy T, Lunardi J.
    Anesthesiology; 1997 Mar; 86(3):620-6. PubMed ID: 9066328
    [Abstract] [Full Text] [Related]

  • 5. 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]

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

  • 7. Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees.
    Keating KE, Quane KA, Manning BM, Lehane M, Hartung E, Censier K, Urwyler A, Klausnitzer M, Muller CR, Heffron JJ.
    Hum Mol Genet; 1994 Oct 13; 3(10):1855-8. PubMed ID: 7849712
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  • 10. Detection of a novel mutation at amino acid position 614 in the ryanodine receptor in malignant hyperthermia.
    Quane KA, Ording H, Keating KE, Manning BM, Heine R, Bendixen D, Berg K, Krivosic-Horber R, Lehmann-Horn F, Fagerlund T, McCarthy TV.
    Br J Anaesth; 1997 Sep 13; 79(3):332-7. PubMed ID: 9389851
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  • 12. Malignant hyperthermia.
    MacLennan DH, Phillips MS.
    Science; 1992 May 08; 256(5058):789-94. PubMed ID: 1589759
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  • 14. Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia.
    Manning BM, Quane KA, Lynch PJ, Urwyler A, Tegazzin V, Krivosic-Horber R, Censier K, Comi G, Adnet P, Wolz W, Lunardi J, Muller CR, McCarthy TV.
    Hum Mutat; 1998 May 08; 11(1):45-50. PubMed ID: 9450902
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  • 15. A search for three known RYR1 gene mutations in 41 Swedish families with predisposition to malignant hyperthermia.
    Fagerlund TH, Islander G, Twetman ER, Berg K.
    Clin Genet; 1995 Jul 08; 48(1):12-6. PubMed ID: 7586638
    [Abstract] [Full Text] [Related]

  • 16. 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 08; 11(3):744-50. PubMed ID: 1774073
    [Abstract] [Full Text] [Related]

  • 17. The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia.
    Phillips MS, Khanna VK, De Leon S, Frodis W, Britt BA, MacLennan DH.
    Hum Mol Genet; 1994 Dec 08; 3(12):2181-6. PubMed ID: 7881417
    [Abstract] [Full Text] [Related]

  • 18. Evidence for a spontaneous C1840-T mutation in the RYR1 gene after DNA fingerprinting in a malignant hyperthermia susceptible family.
    Steinfath M, Seranski P, Singh S, Fiege M, Wappler F, Schulte Am Esch J, Scholz J.
    Naunyn Schmiedebergs Arch Pharmacol; 2002 Oct 08; 366(4):372-5. PubMed ID: 12237752
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  • 19. 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 08; 99(2):297-302. PubMed ID: 12883402
    [Abstract] [Full Text] [Related]

  • 20. Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies.
    Quane KA, Keating KE, Manning BM, Healy JM, Monsieurs K, Heffron JJ, Lehane M, Heytens L, Krivosic-Horber R, Adnet P.
    Hum Mol Genet; 1994 Mar 08; 3(3):471-6. PubMed ID: 8012359
    [Abstract] [Full Text] [Related]

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