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2. 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; 7(4):415-20. PubMed ID: 10352931 [TBL] [Abstract][Full Text] [Related]
3. 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; 20(2):88-97. PubMed ID: 12124989 [TBL] [Abstract][Full Text] [Related]
4. Sevoflurane is less sensitive than halothane for in vitro detection of malignant hyperthermia susceptibility. Johannsen S; Klingler W; Schneiderbanger D; Heiderich S; Roewer N; Schuster F Acta Anaesthesiol Scand; 2013 Oct; 57(9):1161-6. PubMed ID: 23957432 [TBL] [Abstract][Full Text] [Related]
5. Results of contracture tests with halothane, caffeine, and ryanodine depend on different malignant hyperthermia-associated ryanodine receptor gene mutations. Fiege M; Wappler F; Weisshorn R; Ulrich Gerbershagen M; Steinfath M; Schulte Am Esch J Anesthesiology; 2002 Aug; 97(2):345-50. PubMed ID: 12151923 [TBL] [Abstract][Full Text] [Related]
6. 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 [TBL] [Abstract][Full Text] [Related]
7. Comparison of the segregation of the RYR1 C1840T mutation with segregation of the caffeine/halothane contracture test results for malignant hyperthermia susceptibility in a large Manitoba Mennonite family. Serfas KD; Bose D; Patel L; Wrogemann K; Phillips MS; MacLennan DH; Greenberg CR Anesthesiology; 1996 Feb; 84(2):322-9. PubMed ID: 8602662 [TBL] [Abstract][Full Text] [Related]
8. Functional characterisation of the R2452W ryanodine receptor variant associated with malignant hyperthermia susceptibility. Roesl C; Sato K; Schiemann A; Pollock N; Stowell KM Cell Calcium; 2014 Sep; 56(3):195-201. PubMed ID: 25086907 [TBL] [Abstract][Full Text] [Related]
9. Ryanodine receptor mutations in malignant hyperthermia and central core disease. McCarthy TV; Quane KA; Lynch PJ Hum Mutat; 2000; 15(5):410-7. PubMed ID: 10790202 [TBL] [Abstract][Full Text] [Related]
10. 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; 42(12):1218-24. PubMed ID: 19918671 [TBL] [Abstract][Full Text] [Related]
11. 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; 272(42):26332-9. PubMed ID: 9334205 [TBL] [Abstract][Full Text] [Related]
12. 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; 343(6258):559-61. PubMed ID: 1967823 [TBL] [Abstract][Full Text] [Related]
13. Screening for mutations in the RYR1 gene in families with malignant hyperthermia. Muniz VP; Silva HC; Tsanaclis AM; Vainzof M J Mol Neurosci; 2003; 21(1):35-42. PubMed ID: 14500992 [TBL] [Abstract][Full Text] [Related]
14. 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; 99(2):297-302. PubMed ID: 12883402 [TBL] [Abstract][Full Text] [Related]
15. 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; 95(3):716-25. PubMed ID: 11575546 [TBL] [Abstract][Full Text] [Related]
16. Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations. Rueffert H; Olthoff D; Deutrich C; Meinecke CD; Froster UG Acta Anaesthesiol Scand; 2002 Jul; 46(6):692-8. PubMed ID: 12059893 [TBL] [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; 7(3):203-11. PubMed ID: 14641996 [TBL] [Abstract][Full Text] [Related]
18. 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; 28(6):409-16. PubMed ID: 19919814 [TBL] [Abstract][Full Text] [Related]