335 related articles for article (PubMed ID: 17081152)
1. 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]
2. 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]
3. Central core disease is due to RYR1 mutations in more than 90% of patients.
Wu S; Ibarra MC; Malicdan MC; Murayama K; Ichihara Y; Kikuchi H; Nonaka I; Noguchi S; Hayashi YK; Nishino I
Brain; 2006 Jun; 129(Pt 6):1470-80. PubMed ID: 16621918
[TBL] [Abstract][Full Text] [Related]
4. Mutations in RYR1 in malignant hyperthermia and central core disease.
Robinson R; Carpenter D; Shaw MA; Halsall J; Hopkins P
Hum Mutat; 2006 Oct; 27(10):977-89. PubMed ID: 16917943
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
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. 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]
10. 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]
11. 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]
12. 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]
13. 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]
14. 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]
15. Screening of the ryanodine 1 gene for malignant hyperthermia causative mutations by high resolution melt curve analysis.
Broman M; Heinecke K; Islander G; Schuster F; Glahn K; Bodelsson M; Treves S; Müller C
Anesth Analg; 2011 Nov; 113(5):1120-8. PubMed ID: 21965348
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Central core disease due to recessive mutations in RYR1 gene: is it more common than described?
Kossugue PM; Paim JF; Navarro MM; Silva HC; Pavanello RC; Gurgel-Giannetti J; Zatz M; Vainzof M
Muscle Nerve; 2007 May; 35(5):670-4. PubMed ID: 17226826
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. Mutation screening of the RYR1-cDNA from peripheral B-lymphocytes in 15 Swedish malignant hyperthermia index cases.
Broman M; Gehrig A; Islander G; Bodelsson M; Ranklev-Twetman E; Rüffert H; Müller CR
Br J Anaesth; 2009 May; 102(5):642-9. PubMed ID: 19346234
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
