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Journal Abstract Search

410 related items for PubMed ID: 1967823

  • 1. Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia.
    MacLennan DH, Duff C, Zorzato F, Fujii J, Phillips M, Korneluk RG, Frodis W, Britt BA, Worton RG.
    Nature; 1990 Feb 08; 343(6258):559-61. PubMed ID: 1967823
    [Abstract] [Full Text] [Related]

  • 2. Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2.
    McCarthy TV, Healy JM, Heffron JJ, Lehane M, Deufel T, Lehmann-Horn F, Farrall M, Johnson K.
    Nature; 1990 Feb 08; 343(6258):562-4. PubMed ID: 2300206
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  • 3. [What significance to genotype changes have in diagnosis of malignant hyperthermia?].
    Steinfath M, Scholz J, Singh S, Wappler F.
    Anasthesiol Intensivmed Notfallmed Schmerzther; 1996 Aug 08; 31(6):334-43. PubMed ID: 8962927
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  • 4. 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
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  • 5. A case of discordance between genotype and phenotype in a malignant hyperthermia family.
    Fortunato G, Carsana A, Tinto N, Brancadoro V, Canfora G, Salvatore F.
    Eur J Hum Genet; 1999 Aug 08; 7(4):415-20. PubMed ID: 10352931
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  • 6. Genotype-phenotype comparison of the Swiss malignant hyperthermia population.
    Girard T, Urwyler A, Censier K, Mueller CR, Zorzato F, Treves S.
    Hum Mutat; 2001 Oct 08; 18(4):357-8. PubMed ID: 11668625
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  • 8. Genetic analysis with calcium-induced calcium release test in Japanese malignant hyperthermia susceptible (MHS) families.
    Maehara Y, Mukaida K, Hiyama E, Morio M, Kawamoto M, Yuge O.
    Hiroshima J Med Sci; 1999 Mar 08; 48(1):9-15. PubMed ID: 10213958
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  • 9. Identification and biochemical characterization of a novel ryanodine receptor gene mutation associated with malignant hyperthermia.
    Anderson AA, Brown RL, Polster B, Pollock N, Stowell KM.
    Anesthesiology; 2008 Feb 08; 108(2):208-15. PubMed ID: 18212565
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  • 10. Mild clinical and histopathological features in patients who carry the frequent and causative malignant hyperthermia RyR1 mutation p.Thr2206Met.
    Rueffert H, Wehner M, Ogunlade V, Meinecke C, Schober R.
    Clin Neuropathol; 2009 Feb 08; 28(6):409-16. PubMed ID: 19919814
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  • 11. [Biology of malignant hyperthermia: a disease of the calcium channels of the skeletal muscle].
    Monnier N, Lunardi J.
    Ann Biol Clin (Paris); 2000 Feb 08; 58(2):147-56. PubMed ID: 10760701
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  • 12. 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
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  • 13. Intracellular calcium homeostasis in human primary muscle cells from malignant hyperthermia-susceptible and normal individuals. Effect Of overexpression of recombinant wild-type and Arg163Cys mutated ryanodine receptors.
    Censier K, Urwyler A, Zorzato F, Treves S.
    J Clin Invest; 1998 Mar 15; 101(6):1233-42. PubMed ID: 9502764
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  • 14. Functional characterization of malignant hyperthermia-associated RyR1 mutations in exon 44, using the human myotube model.
    Wehner M, Rueffert H, Koenig F, Olthoff D.
    Neuromuscul Disord; 2004 Jul 15; 14(7):429-37. PubMed ID: 15210166
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  • 15. A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree.
    Brown RL, Pollock AN, Couchman KG, Hodges M, Hutchinson DO, Waaka R, Lynch P, McCarthy TV, Stowell KM.
    Hum Mol Genet; 2000 Jun 12; 9(10):1515-24. PubMed ID: 10888602
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  • 16. Several interacting genes influence the malignant hyperthermia phenotype.
    Robinson R, Hopkins P, Carsana A, Gilly H, Halsall J, Heytens L, Islander G, Jurkat-Rott K, Müller C, Shaw MA.
    Hum Genet; 2003 Feb 12; 112(2):217-8. PubMed ID: 12522565
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  • 17. Caffeine and halothane sensitivity of intracellular Ca2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/or central core disease.
    Tong J, Oyamada H, Demaurex N, Grinstein S, McCarthy TV, MacLennan DH.
    J Biol Chem; 1997 Oct 17; 272(42):26332-9. PubMed ID: 9334205
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  • 18. 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 17; 95(3):716-25. PubMed ID: 11575546
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