500 related articles for article (PubMed ID: 19919814)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. Malignant hyperthermia and central core disease causative mutations in Swedish patients.
Broman M; Islander G; Müller CR; Ranklev-Twetman E
Acta Anaesthesiol Scand; 2007 Jan; 51(1):50-3. PubMed ID: 17081152
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. Genetic analysis with calcium-induced calcium release test in Japanese malignant hyperthermia susceptible (MHS) families.
Maehara Y; Mukaida K; Hiyama E; Morio M; Kawamoto M; Yuge O
Hiroshima J Med Sci; 1999 Mar; 48(1):9-15. PubMed ID: 10213958
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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]
16. 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]
17. [Current aspects of the diagnosis of malignant hyperthermia].
Rüffert H; Olthoff D; Deutrich C; Froster UG
Anaesthesist; 2002 Nov; 51(11):904-13. PubMed ID: 12434264
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. [In vitro contracture test and gene typing in diagnosing malignant hyperthermia. Each as an appropriate complement to the other method].
Rüffert H; Olthoff D; Deutrich C; Thamm B; Froster U
Anaesthesist; 2000 Feb; 49(2):113-20. PubMed ID: 10756965
[TBL] [Abstract][Full Text] [Related]
20. Molecular genetic detection of susceptibility to malignant hyperthermia in Belgian families.
Heytens L
Acta Anaesthesiol Belg; 2007; 58(2):113-8. PubMed ID: 17710899
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
