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322 related items for PubMed ID: 22415532

  • 1. Novel double and single ryanodine receptor 1 variants in two Austrian malignant hyperthermia families.
    Kaufmann A, Kraft B, Michalek-Sauberer A, Weindlmayr M, Kress HG, Steinboeck F, Weigl LG.
    Anesth Analg; 2012 May; 114(5):1017-25. PubMed ID: 22415532
    [Abstract] [Full Text] [Related]

  • 2. Novel ryanodine receptor mutation that may cause malignant hyperthermia.
    Kaufmann A, Kraft B, Michalek-Sauberer A, Weigl LG.
    Anesthesiology; 2008 Sep; 109(3):457-64. PubMed ID: 18719443
    [Abstract] [Full Text] [Related]

  • 3. 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; 14(7):429-37. PubMed ID: 15210166
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  • 5. 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; 108(2):208-15. PubMed ID: 18212565
    [Abstract] [Full Text] [Related]

  • 6. Increasing the number of diagnostic mutations in malignant hyperthermia.
    Levano S, Vukcevic M, Singer M, Matter A, Treves S, Urwyler A, Girard T.
    Hum Mutat; 2009 Apr; 30(4):590-8. PubMed ID: 19191329
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes.
    Robinson RL, Brooks C, Brown SL, Ellis FR, Halsall PJ, Quinnell RJ, Shaw MA, Hopkins PM.
    Hum Mutat; 2002 Aug 15; 20(2):88-97. PubMed ID: 12124989
    [Abstract] [Full Text] [Related]

  • 9. 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 15; 366(4):372-5. PubMed ID: 12237752
    [Abstract] [Full Text] [Related]

  • 10. Mutated p.4894 RyR1 function related to malignant hyperthermia and congenital neuromuscular disease with uniform type 1 fiber (CNMDU1).
    Haraki T, Yasuda T, Mukaida K, Migita T, Hamada H, Kawamoto M.
    Anesth Analg; 2011 Dec 15; 113(6):1461-7. PubMed ID: 21926372
    [Abstract] [Full Text] [Related]

  • 11. Effects of caffeine, halothane, and 4-chloro-m-cresol on skeletal muscle lactate and pyruvate in malignant hyperthermia-susceptible and normal swine as assessed by microdialysis.
    Bina S, Cowan G, Karaian J, Muldoon S, Mongan P, Bünger R.
    Anesthesiology; 2006 Jan 15; 104(1):90-100. PubMed ID: 16394695
    [Abstract] [Full Text] [Related]

  • 12. 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]

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

  • 14. 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 Aug 15; 28(6):409-16. PubMed ID: 19919814
    [Abstract] [Full Text] [Related]

  • 15. Functional studies of RYR1 mutations in the skeletal muscle ryanodine receptor using human RYR1 complementary DNA.
    Sato K, Pollock N, Stowell KM.
    Anesthesiology; 2010 Jun 15; 112(6):1350-4. PubMed ID: 20461000
    [Abstract] [Full Text] [Related]

  • 16. 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 15; 18(4):357-8. PubMed ID: 11668625
    [Abstract] [Full Text] [Related]

  • 17. Calcium release from sarcoplasmic reticulum is facilitated in human myotubes derived from carriers of the ryanodine receptor type 1 mutations Ile2182Phe and Gly2375Ala.
    Wehner M, Rueffert H, Koenig F, Olthoff D.
    Genet Test; 2003 Oct 15; 7(3):203-11. PubMed ID: 14641996
    [Abstract] [Full Text] [Related]

  • 18. Increased sensitivity to 4-chloro-m-cresol and caffeine in primary myotubes from malignant hyperthermia susceptible individuals carrying the ryanodine receptor 1 Thr2206Met (C6617T) mutation.
    Wehner M, Rueffert H, Koenig F, Neuhaus J, Olthoff D.
    Clin Genet; 2002 Aug 15; 62(2):135-46. PubMed ID: 12220451
    [Abstract] [Full Text] [Related]

  • 19. 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
    [Abstract] [Full Text] [Related]

  • 20. 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 Jun 12; 7(4):415-20. PubMed ID: 10352931
    [Abstract] [Full Text] [Related]

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