149 related articles for article (PubMed ID: 9389851)
21. 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; 124A(3):248-54. PubMed ID: 14708096
[TBL] [Abstract][Full Text] [Related]
22. Homozygous and heterozygous Arg614Cys mutations (1840C-->T) in the ryanodine receptor gene co-segregate with malignant hyperthermia susceptibility in a German family.
Rueffert H; Olthoff D; Deutrich C; Thamm B; Froster UG
Br J Anaesth; 2001 Aug; 87(2):240-5. PubMed ID: 11493496
[TBL] [Abstract][Full Text] [Related]
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
[TBL] [Abstract][Full Text] [Related]
24. Detection of a novel mutation in the ryanodine receptor gene in an Irish malignant hyperthermia pedigree: correlation of the IVCT response with the affected and unaffected haplotypes.
Keating KE; Giblin L; Lynch PJ; Quane KA; Lehane M; Heffron JJ; McCarthy TV
J Med Genet; 1997 Apr; 34(4):291-6. PubMed ID: 9138151
[TBL] [Abstract][Full Text] [Related]
25. Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population.
Kraeva N; Riazi S; Loke J; Frodis W; Crossan ML; Nolan K; Kraev A; Maclennan DH
Can J Anaesth; 2011 Jun; 58(6):504-13. PubMed ID: 21455645
[TBL] [Abstract][Full Text] [Related]
26. Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia.
McWilliams S; Nelson T; Sudo RT; Zapata-Sudo G; Batti M; Sambuughin N
Clin Genet; 2002 Jul; 62(1):80-3. PubMed ID: 12123492
[TBL] [Abstract][Full Text] [Related]
27. 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; 18(4):357-8. PubMed ID: 11668625
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. 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]
30. The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia.
Phillips MS; Khanna VK; De Leon S; Frodis W; Britt BA; MacLennan DH
Hum Mol Genet; 1994 Dec; 3(12):2181-6. PubMed ID: 7881417
[TBL] [Abstract][Full Text] [Related]
31. Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region.
Galli L; Orrico A; Cozzolino S; Pietrini V; Tegazzin V; Sorrentino V
Cell Calcium; 2002 Sep; 32(3):143-51. PubMed ID: 12208234
[TBL] [Abstract][Full Text] [Related]
32. 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
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. Reduced threshold for store overload-induced Ca
Chen W; Koop A; Liu Y; Guo W; Wei J; Wang R; MacLennan DH; Dirksen RT; Chen SRW
Biochem J; 2017 Aug; 474(16):2749-2761. PubMed ID: 28687594
[TBL] [Abstract][Full Text] [Related]
35. Genetic variation in RYR1 and malignant hyperthermia phenotypes.
Carpenter D; Robinson RL; Quinnell RJ; Ringrose C; Hogg M; Casson F; Booms P; Iles DE; Halsall PJ; Steele DS; Shaw MA; Hopkins PM
Br J Anaesth; 2009 Oct; 103(4):538-48. PubMed ID: 19648156
[TBL] [Abstract][Full Text] [Related]
36. 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
[TBL] [Abstract][Full Text] [Related]
37. Ryanodine receptor type 1 (RyR1) possessing malignant hyperthermia mutation R615C exhibits heightened sensitivity to dysregulation by non-coplanar 2,2',3,5',6-pentachlorobiphenyl (PCB 95).
Ta TA; Pessah IN
Neurotoxicology; 2007 Jul; 28(4):770-9. PubMed ID: 17023049
[TBL] [Abstract][Full Text] [Related]
38. 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; 26(1):21-5. PubMed ID: 26631338
[TBL] [Abstract][Full Text] [Related]
39. [Biology of malignant hyperthermia: a disease of the calcium channels of the skeletal muscle].
Monnier N; Lunardi J
Ann Biol Clin (Paris); 2000; 58(2):147-56. PubMed ID: 10760701
[TBL] [Abstract][Full Text] [Related]
40. A cysteine-for-arginine substitution (R614C) in the human skeletal muscle calcium release channel cosegregates with malignant hyperthermia.
Hogan K; Couch F; Powers PA; Gregg RG
Anesth Analg; 1992 Sep; 75(3):441-8. PubMed ID: 1510267
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
