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Journal Abstract Search

177 related items for PubMed ID: 12066726

  • 1. Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees.
    Davis M, Brown R, Dickson A, Horton H, James D, Laing N, Marston R, Norgate M, Perlman D, Pollock N, Stowell K.
    Br J Anaesth; 2002 Apr; 88(4):508-15. PubMed ID: 12066726
    [Abstract] [Full Text] [Related]

  • 2. 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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  • 3. The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations.
    Knuiman GJ, Küsters B, Eshuis L, Snoeck M, Lammens M, Heytens L, De Ridder W, Baets J, Scalco RS, Quinlivan R, Holton J, Bodi I, Wraige E, Radunovic A, von Landenberg C, Reimann J, Kamsteeg EJ, Sewry C, Jungbluth H, Voermans NC.
    J Neurol; 2019 Apr 12; 266(4):876-887. PubMed ID: 30788618
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  • 5. Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis.
    Dlamini N, Voermans NC, Lillis S, Stewart K, Kamsteeg EJ, Drost G, Quinlivan R, Snoeck M, Norwood F, Radunovic A, Straub V, Roberts M, Vrancken AF, van der Pol WL, de Coo RI, Manzur AY, Yau S, Abbs S, King A, Lammens M, Hopkins PM, Mohammed S, Treves S, Muntoni F, Wraige E, Davis MR, van Engelen B, Jungbluth H.
    Neuromuscul Disord; 2013 Jul 12; 23(7):540-8. PubMed ID: 23628358
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  • 6. RYR1-Related Rhabdomyolysis: A Spectrum of Hypermetabolic States Due to Ryanodine Receptor Dysfunction.
    Kruijt N, den Bersselaar LV, Snoeck M, Kramers K, Riazi S, Bongers C, Treves S, Jungbluth H, Voermans N.
    Curr Pharm Des; 2022 Jul 12; 28(1):2-14. PubMed ID: 34348614
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  • 7. 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 12; 8(11):2055-62. PubMed ID: 10484775
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  • 8. An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor.
    Monnier N, Romero NB, Lerale J, Nivoche Y, Qi D, MacLennan DH, Fardeau M, Lunardi J.
    Hum Mol Genet; 2000 Nov 01; 9(18):2599-608. PubMed ID: 11063719
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  • 9. Ryanodine receptor mutations in malignant hyperthermia and central core disease.
    McCarthy TV, Quane KA, Lynch PJ.
    Hum Mutat; 2000 Nov 01; 15(5):410-7. PubMed ID: 10790202
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  • 10. Screening for mutations in the RYR1 gene in families with malignant hyperthermia.
    Muniz VP, Silva HC, Tsanaclis AM, Vainzof M.
    J Mol Neurosci; 2003 Nov 01; 21(1):35-42. PubMed ID: 14500992
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  • 11. A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation.
    Rueffert H, Olthoff D, Deutrich C, Schober R, Froster UG.
    Am J Med Genet A; 2004 Jan 30; 124A(3):248-54. PubMed ID: 14708096
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  • 13. Mutation screening of the RYR1-cDNA from peripheral B-lymphocytes in 15 Swedish malignant hyperthermia index cases.
    Broman M, Gehrig A, Islander G, Bodelsson M, Ranklev-Twetman E, Rüffert H, Müller CR.
    Br J Anaesth; 2009 May 30; 102(5):642-9. PubMed ID: 19346234
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  • 15. [Molecular genetic analysis of the ryanodine receptor gene (RYR1) in Korean malignant hyperthermia families].
    Lee H, Kim DC, Lee JH, Cho YG, Lee HS, Choi SI, Kim DS.
    Korean J Lab Med; 2010 Dec 30; 30(6):702-10. PubMed ID: 21157159
    [Abstract] [Full Text] [Related]

  • 16. Identification of genetic mutations in Australian malignant hyperthermia families using sequencing of RYR1 hotspots.
    Gillies RL, Bjorksten AR, Davis M, Du Sart D.
    Anaesth Intensive Care; 2008 May 30; 36(3):391-403. PubMed ID: 18564801
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  • 18. Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores.
    Quane KA, Keating KE, Healy JM, Manning BM, Krivosic-Horber R, Krivosic I, Monnier N, Lunardi J, McCarthy TV.
    Genomics; 1994 Sep 01; 23(1):236-9. PubMed ID: 7829078
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  • 19. Functional characterization of 2 known ryanodine receptor mutations causing malignant hyperthermia.
    Schiemann AH, Paul N, Parker R, Pollock N, Bulger TF, Stowell KM.
    Anesth Analg; 2014 Feb 01; 118(2):375-380. PubMed ID: 24361844
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  • 20. Malignant hyperthermia susceptibility in patients with exertional rhabdomyolysis: a retrospective cohort study and updated systematic review.
    Kraeva N, Sapa A, Dowling JJ, Riazi S.
    Can J Anaesth; 2017 Jul 01; 64(7):736-743. PubMed ID: 28326467
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