264 related articles for article (PubMed ID: 19191333)
1. Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes.
Zullo A; Klingler W; De Sarno C; Ferrara M; Fortunato G; Perrotta G; Gravino E; Di Noto R; Lehmann-Horn F; Melzer W; Salvatore F; Carsana A
Hum Mutat; 2009 Apr; 30(4):E575-90. PubMed ID: 19191333
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Functional properties of RYR1 mutations identified in Swedish patients with malignant hyperthermia and central core disease.
Vukcevic M; Broman M; Islander G; Bodelsson M; Ranklev-Twetman E; Müller CR; Treves S
Anesth Analg; 2010 Jul; 111(1):185-90. PubMed ID: 20142353
[TBL] [Abstract][Full Text] [Related]
4. Identification of a novel mutation in the ryanodine receptor gene (RYR1) in a malignant hyperthermia Italian family.
Fortunato G; Berruti R; Brancadoro V; Fattore M; Salvatore F; Carsana A
Eur J Hum Genet; 2000 Feb; 8(2):149-52. PubMed ID: 10757649
[TBL] [Abstract][Full Text] [Related]
5. Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.
Galli L; Orrico A; Lorenzini S; Censini S; Falciani M; Covacci A; Tegazzin V; Sorrentino V
Hum Mutat; 2006 Aug; 27(8):830. PubMed ID: 16835904
[TBL] [Abstract][Full Text] [Related]
6. 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; 112(6):1350-4. PubMed ID: 20461000
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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; 23(1):236-9. PubMed ID: 7829078
[TBL] [Abstract][Full Text] [Related]
9. 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
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization.
Guis S; Figarella-Branger D; Monnier N; Bendahan D; Kozak-Ribbens G; Mattei JP; Lunardi J; Cozzone PJ; Pellissier JF
Arch Neurol; 2004 Jan; 61(1):106-13. PubMed ID: 14732627
[TBL] [Abstract][Full Text] [Related]
12. Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.
Monnier N; Kozak-Ribbens G; Krivosic-Horber R; Nivoche Y; Qi D; Kraev N; Loke J; Sharma P; Tegazzin V; Figarella-Branger D; Roméro N; Mezin P; Bendahan D; Payen JF; Depret T; Maclennan DH; Lunardi J
Hum Mutat; 2005 Nov; 26(5):413-25. PubMed ID: 16163667
[TBL] [Abstract][Full Text] [Related]
13. Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.
Jungbluth H; Zhou H; Hartley L; Halliger-Keller B; Messina S; Longman C; Brockington M; Robb SA; Straub V; Voit T; Swash M; Ferreiro A; Bydder G; Sewry CA; Müller C; Muntoni F
Neurology; 2005 Dec; 65(12):1930-5. PubMed ID: 16380615
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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; 113(6):1461-7. PubMed ID: 21926372
[TBL] [Abstract][Full Text] [Related]
16. Characterization of ryanodine receptor-mediated calcium release in human B cells: relevance to diagnostic testing for malignant hyperthermia.
McKinney LC; Butler T; Mullen SP; Klein MG
Anesthesiology; 2006 Jun; 104(6):1191-201. PubMed ID: 16732090
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. 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]
20. Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families.
Barone V; Massa O; Intravaia E; Bracco A; Di Martino A; Tegazzin V; Cozzolino S; Sorrentino V
J Med Genet; 1999 Feb; 36(2):115-8. PubMed ID: 10051009
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
