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Journal Abstract Search

397 related items for PubMed ID: 12237752

  • 1.
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  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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
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  • 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
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  • 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
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  • 6. [What significance to genotype changes have in diagnosis of malignant hyperthermia?].
    Steinfath M, Scholz J, Singh S, Wappler F.
    Anasthesiol Intensivmed Notfallmed Schmerzther; 1996 Aug; 31(6):334-43. PubMed ID: 8962927
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  • 7. C1840-T mutation in the human skeletal muscle ryanodine receptor gene: frequency in northern German families susceptible to malignant hyperthermia and the relationship to in vitro contracture response.
    Steinfath M, Singh S, Scholz J, Becker K, Lenzen C, Wappler F, Köchling A, Roewer N, Schulte am Esch J.
    J Mol Med (Berl); 1995 Jan; 73(1):35-40. PubMed ID: 7633940
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  • 8. 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 Jan; 7(4):415-20. PubMed ID: 10352931
    [Abstract] [Full Text] [Related]

  • 9. 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
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  • 10. 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 08; 343(6258):559-61. PubMed ID: 1967823
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  • 11. 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 08; 51(1):50-3. PubMed ID: 17081152
    [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 08; 48(1):9-15. PubMed ID: 10213958
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  • 15. 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 08; 61(1):106-13. PubMed ID: 14732627
    [Abstract] [Full Text] [Related]

  • 16. 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 08; 30(4):590-8. PubMed ID: 19191329
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  • 18. Identification of malignant hyperthermia-susceptible ryanodine receptor type 1 gene (RYR1) mutations in a child who died in a car after exposure to a high environmental temperature.
    Nishio H, Sato T, Fukunishi S, Tamura A, Iwata M, Tsuboi K, Suzuki K.
    Leg Med (Tokyo); 2009 May 08; 11(3):142-3. PubMed ID: 19223216
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  • 20. 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 08; 114(5):1017-25. PubMed ID: 22415532
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