MH References

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Allen GC, Larach MG, Kunselman AR. The sensitivity and specificity of the caffeine-halothane contracture test: a report from the North American Malignant Hyperthermia Registry. The North American Malignant Hyperthermia Registry of MHAUS. Anesthesiology. 1998 Mar;88(3):579-88.

Ama T, Bounmythavong S, Blaze J, Weismann M, Marienau MS, Nicholson WT. Implications of pharmacogenomics for anesthesia providers. AANA J. 2010 Oct;78(5):393-9.

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Bannister RA, Estève E, Eltit JM, Pessah IN, Allen PD, López JR, Beam KG. A malignant hyperthermia-inducing mutation in RYR1 (R163C): consequent alterations in the functional properties of DHPR channels. J Gen Physiol. 2010 Jun;135(6):629-40.

Benca J, Hogan K. Malignant hyperthermia, coexisting disorders, and enzymopathies: risks and management options. Anesth Analg. 2009 Oct;109(4):1049-53.

Boncompagni S, Rossi AE, Micaroni M, Hamilton SL, Dirksen RT, Franzini-Armstrong C, Protasi F. Characterization and temporal development of cores in a mouse model of malignant hyperthermia. Proc Natl Acad Sci U S A. 2009 Dec 22;106(51):21996-2001.

Brady JE, Sun LS, Rosenberg H, Li G. Prevalence of malignant hyperthermia due to anesthesia in New York State, 2001-2005. Anesth Analg. 2009 Oct;109(4):1162-6.

Brandon BW. Ambulatory surgery and malignant hyperthermia. Curr Opin Anaesthesiol. 2009 Dec;22(6):744-7.

Brandt A, Schleithoff L, Jurkat-Rott K, Klingler W, Baur C, Lehmann-Horn F. Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test. Human Molecular Genetics. 1999 Oct;8:(11) 2055-2062.

Britt BA. Malignant hyperthermia: a review. In: E. Schonbaum, P. Lomax (Eds.), Thermoregulation: Pathology, Pharmacology and Therapy, Pergamon Press Inc., New York, 1991, pp. 179-292.

Britt BA, Kalow W. Malignant hyperthermia: a statistical review. Can. Anaesth. Soc. J. 17 (1970);293-315.

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Capacchione JF, Sambuughin N, Bina S, Mulligan LP, Lawson TD, Muldoon SM. Exertional rhabdomyolysis and malignant hyperthermia in a patient with ryanodine receptor type 1 gene, L-type calcium channel alpha-1 subunit gene, and calsequestrin-1 gene polymorphisms. Anesthesiology. 2010 Jan;112(1):239-44.

Carpenter D, Ringrose C, Leo V, Morris A, Robinson RL, Halsall PJ, Hopkins PM, Shaw MA. The role of CACNA1S in predisposition to malignant hyperthermia. BMC Med Genet. 2009 Oct 13;10:104.

Chen PL, Chang YW, Chen CY, Hsiang YC, Day YJ. Novel variants near the central domain of RYR1 in two malignant hyperthermia-susceptible families from Taiwan.Anesth Analg. 2009 Oct;109(4):1273-7.

Corona BT, Hamilton SL, Ingalls CP. Effect of prior exercise on thermal sensitivity of malignant hyperthermia-susceptible muscle. Muscle Nerve. 2010 Aug;42(2):270-2.

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Davis PJ, Brandom BW. The association of malignant hyperthermia and unusual disease: when you're hot you're hot or maybe not. Anesth Analg. 2009 Oct;109(4):1001-3.

Duke AM, Hopkins PM, Calaghan SC, Halsall JP, Steele DS. Store-operated Ca2+ entry in malignant hyperthermia-susceptible human skeletal muscle. J Biol Chem. 2010 Aug 13;285(33):25645-53.

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Estève E, Eltit JM, Bannister RA, Liu K, Pessah IN, Beam KG, Allen PD, López JR. A malignant hyperthermia-inducing mutation in RYR1 (R163C): alterations in Ca2+ entry, release, and retrograde signaling to the DHPR. J Gen Physiol. 2010 Jun;135(6):619-28.

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Ginz HF, Rüffert H, Levano S, Li Wan Po A, Benthien J, Urwyler A, Girard T. A mathematical model to improve on phenotyping for molecular genetic research in malignant hyperthermia. Pharmacogenet Genomics. 2009 Nov 3.

Glahn KP, Ellis FR, Halsall PJ, Müller CR, Snoeck MM, Urwyler A, Wappler F. European Malignant Hyperthermia Group. Recognizing and managing a malignant hyperthermia crisis: guidelines from the European Malignant Hyperthermia Group. Br J Anaesth. 2010 Oct;105(4):417-20.

Gronert GA. Testing for MH susceptibility. ACTA Anaesthesiologica Scandinavica. 1997;41:953-54.

Gurnaney H, Brown A, Litman RS. Malignant hyperthermia and muscular dystrophies. Anesth Analg. 2009 Oct;109(4):1043-8.

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Hogan KJ, Vladutiu GD. Malignant hyperthermia-like syndrome and carnitine palmitoyltransferase II deficiency with heterozygous R503C mutation. Anesth Analg. 2009 Oct;109(4):1070-2.

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Kim TW, Nemergut ME. Preparation of Modern Anesthesia Workstations for Malignant Hyperthermia-susceptible Patients: A Review of Past and Present Practice. Anesthesiology. 2011 Jan;114(1):205-212.

Klingler W, Rueffert H, Lehmann-Horn F, Girard T, Hopkins PM. Core myopathies and risk of malignant hyperthermia. Anesth Analg. 2009 Oct;109(4):1167-73.

Kobayashi S, Yano M, Uchinoumi H, Suetomi T, Susa T, Ono M, Xu X, Tateishi H, Oda T, Okuda S, Doi M, Yamamoto T, Matsuzaki M. Dantrolene, a therapeutic agent for malignant hyperthermia, inhibits catecholaminergic polymorphic ventricular tachycardia in a RyR2(R2474S/+) knock-in mouse model. Circ J. 2010 Nov 25;74(12):2579-84.

Kraev N, Loke JC, Kraev A, MacLennan DH. Protocol for the sequence analysis of ryanodine receptor subtype 1 gene transcripts from human leukocytes. Anesthesiology. 2003 Aug;99(2):289-96.

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Larach MG, Gronert GA, Allen GC, Brandom BW, Lehman EB. Clinical presentation, treatment, and complications of malignant hyperthermia in North America from 1987 to 2006. Anesth Analg. 2010 Feb 1;110(2):498-507.

Larach MG, MacLennan DH. How carefully can we phenotype patients suspected of malignant hyperthermia susceptibility? Anesthesiology. 1999 Mar;90(3):645-8.

Litman RS, Rosenberg H. Malignant hyperthermia-associated diseases: state of the art uncertainty. Anesth Analg. 2009 Oct;109(4):1004-5.

Loke JC, Kraev N, Sharma P, Du G, Patel L, Kraev A, MacLennan DH. Detection of a novel ryanodine receptor subtype 1 mutation (R328W) in a malignant hyperthermia family by sequencing of a leukocyte transcript. Anesthesiology. 2003 Aug;99(2):297-302.

Loke JC, MacLennan DH. Bayesian Modeling of Muscle Biopsy Contracture Testing for Malignant Hyperthermia Susceptibility. Anesthesiology 1998 Mar;88,3:589-395.

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MacLennan DH, Phillips MS. Malignant hyperthermia. Science 256 1992; 789-794.

Maclennan DH, Zvaritch E. Mechanistic models for muscle diseases and disorders originating in the sarcoplasmic reticulum. Biochim Biophys Acta. 2010 Nov 27. [Epub ahead of print]

Metterlein T, Schuster F, Tadda L, Hager M, Roewer N, Anetseder M. Statins alter intracellular calcium homeostasis in malignant hyperthermia susceptible individuals. Cardiovasc Ther. 2010 Dec;28(6):356-60.

Metterlein T, Schuster F, Kranke P, Roewer N, Anetseder M. In-vitro contracture testing for susceptibility to malignant hyperthermia: can halothane be replaced? Eur J Anaesthesiol. 2010 Sep 4.

Monnier N, Procaccio V, Stieglitz P, Lunardi J. Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle. Am. J. Hum. Genet. 1997;60:1316-1325.

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Parness J, Bandschapp O, Girard T. The myotonias and susceptibility to malignant hyperthermia. Anesth Analg. 2009 Oct;109(4):1054-64.

Parness J, Hogan KJ. Out of a cell into this darkened space. Anesth Analg. 2010 Jul;111(1):13-6.

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Robinson R, Carpenter D, Shaw MA, Halsall J, Hopkins P. Mutations in RYR1 in malignant hyperthermia and central core disease. Hum. Mutat. 2006;27:977-989.

Rosenberg H, Davis M, James D, Pollock N, Stowell K. Malignant hyperthermia. Orphanet J. Rare Dis. 2 2007;21.

Rosenberg H, Sambuughin N, Dirksen R. Malignant Hyperthermia Susceptibility. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle. 1993-2003 Dec 19 [updated 2010 Jan 19].

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Sato K, Pollock N, Stowell KM. Functional studies of RYR1 mutations in the skeletal muscle ryanodine receptor using human RYR1 complementary DNA. Anesthesiology. 2010 Jun;112(6):1350-4.

Stewart SL, Hogan K, Rosenberg H, Fletcher JE. Identification of the Arg1086His mutation in the alpha subunit of the voltage-dependent calcium channel (CACNA1S) in a North American family with malignant hyperthermia. Clin. Genet. 2001;59:178-184.

Sumitani M, Uchida K, Yasunaga H, Horiguchi H, Kusakabe Y, Matsuda S, Yamada Y. Prevalence of Malignant Hyperthermia and Relationship with Anesthetics. In Japan: Data from the Diagnosis Procedure Combination Database. Anesthesiology. 2011 Jan;114(1):84-90.

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Tammaro A, Di Martino A, Bracco A, Cozzolino S, Savoia G, Andria B, Cannavo A, Spagnuolo M, Piluso G, Aurino S, Nigro V. Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families. Clin Genet. 2010 Jun 29. doi: 10.1111/j.1399-0004.2010.01493.

Toppin PJ, Chandy TT, Ghanekar A, Kraeva N, Beattie WS, Riazi S. A report of fulminant malignant hyperthermia in a patient with a novel mutation of the CACNA1S gene. Can J Anaesth. 2010 Jul;57(7):689-93.

Treves S, Vukcevic M, Jeannet PY, Levano S, Girard T, Urwyler A, Fischer D, Voit T, Jungbluth H, Lillis S, Muntoni F, Quinlivan R, Sarkozy A, Bushby K, Zorzato F. Enhanced excitation-coupled Ca2+ entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease. Hum Mol Genet. 2010 Dec 7.

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