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Journal Abstract Search

163 related items for PubMed ID: 11493496

  • 21. Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test.
    Brandt A, Schleithoff L, Jurkat-Rott K, Klingler W, Baur C, Lehmann-Horn F.
    Hum Mol Genet; 1999 Oct; 8(11):2055-62. PubMed ID: 10484775
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  • 23. 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; 366(4):372-5. PubMed ID: 12237752
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  • 25. Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.
    Monnier N, Kozak-Ribbens G, Krivosic-Horber R, Nivoche Y, Qi D, Kraev N, Loke J, Sharma P, Tegazzin V, Figarella-Branger D, Roméro N, Mezin P, Bendahan D, Payen JF, Depret T, Maclennan DH, Lunardi J.
    Hum Mutat; 2005 Nov; 26(5):413-25. PubMed ID: 16163667
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  • 26. 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
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  • 30. North American malignant hyperthermia population: screening of the ryanodine receptor gene and identification of novel mutations.
    Sambuughin N, Sei Y, Gallagher KL, Wyre HW, Madsen D, Nelson TE, Fletcher JE, Rosenberg H, Muldoon SM.
    Anesthesiology; 2001 Sep 08; 95(3):594-9. PubMed ID: 11575529
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  • 31. Ryanodine receptor gene point mutation and malignant hyperthermia susceptibility.
    Moroni I, Gonano EF, Comi GP, Tegazzin V, Prelle A, Bordoni A, Bresolin N, Scarlato G.
    J Neurol; 1995 Feb 08; 242(3):127-33. PubMed ID: 7751854
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  • 32. Multigenerational Brazilian family with malignant hyperthermia and a novel mutation in the RYR1 gene.
    Matos AR, Sambuughin N, Rumjanek FD, Amoedo ND, Cunha LB, Zapata-Sudo G, Sudo RT.
    Braz J Med Biol Res; 2009 Dec 08; 42(12):1218-24. PubMed ID: 19918671
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  • 33. [Current aspects of the diagnosis of malignant hyperthermia].
    Rüffert H, Olthoff D, Deutrich C, Froster UG.
    Anaesthesist; 2002 Nov 08; 51(11):904-13. PubMed ID: 12434264
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  • 35. Is there a link between exertional heat stroke and susceptibility to malignant hyperthermia?
    Sagui E, Montigon C, Abriat A, Jouvion A, Duron-Martinaud S, Canini F, Zagnoli F, Bendahan D, Figarella-Branger D, Brégigeon M, Brosset C.
    PLoS One; 2015 Nov 08; 10(8):e0135496. PubMed ID: 26258863
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  • 36. A multi-dimensional analysis of genotype-phenotype discordance in malignant hyperthermia susceptibility.
    Ibarra Moreno CA, Kraeva N, Zvaritch E, Figueroa L, Rios E, Biesecker L, Van Petegem F, Hopkins PM, Riazi S.
    Br J Anaesth; 2020 Dec 08; 125(6):995-1001. PubMed ID: 32861507
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  • 39. Functional characterization of the RYR1 mutation p.Arg4737Trp associated with susceptibility to malignant hyperthermia.
    Johannsen S, Treves S, Müller CR, Mögele S, Schneiderbanger D, Roewer N, Schuster F.
    Neuromuscul Disord; 2016 Jan 08; 26(1):21-5. PubMed ID: 26631338
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