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296 related items for PubMed ID: 15221887

  • 1. Mutation analysis of two patients with hypokalemic periodic paralysis and suspected malignant hyperthermia.
    Marchant CL, Ellis FR, Halsall PJ, Hopkins PM, Robinson RL.
    Muscle Nerve; 2004 Jul; 30(1):114-7. PubMed ID: 15221887
    [Abstract] [Full Text] [Related]

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

  • 3. [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
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family.
    Ke T, Gomez CR, Mateus HE, Castano JA, Wang QK.
    J Hum Genet; 2009 Nov; 54(11):660-4. PubMed ID: 19779499
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. Mutation screening in Korean hypokalemic periodic paralysis patients: a novel SCN4A Arg672Cys mutation.
    Kim MK, Lee SH, Park MS, Kim BC, Cho KH, Lee MC, Kim JH, Kim SM.
    Neuromuscul Disord; 2004 Nov; 14(11):727-31. PubMed ID: 15482957
    [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
    [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
    [Abstract] [Full Text] [Related]

  • 10. Recent advances in the diagnosis of malignant hyperthermia susceptibility: how confident can we be of genetic testing?
    Robinson RL, Anetseder MJ, Brancadoro V, van Broekhoven C, Carsana A, Censier K, Fortunato G, Girard T, Heytens L, Hopkins PM, Jurkat-Rott K, Klinger W, Kozak-Ribbens G, Krivosic R, Monnier N, Nivoche Y, Olthoff D, Rueffert H, Sorrentino V, Tegazzin V, Mueller CR.
    Eur J Hum Genet; 2003 Apr; 11(4):342-8. PubMed ID: 12700608
    [Abstract] [Full Text] [Related]

  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12. Hypokalemic periodic paralysis due to the SCN4A R672H mutation in a Turkish family.
    Incecik F, Hergüner MO, Altunbaşak S, Lehman-Horn F.
    Turk J Pediatr; 2010 Apr; 52(4):409-10. PubMed ID: 21043388
    [Abstract] [Full Text] [Related]

  • 13. Linkage of malignant hyperthermia and hyperkalemic periodic paralysis to the adult skeletal muscle sodium channel (SCN4A) gene in a large pedigree.
    Moslehi R, Langlois S, Yam I, Friedman JM.
    Am J Med Genet; 1998 Feb 26; 76(1):21-7. PubMed ID: 9508059
    [Abstract] [Full Text] [Related]

  • 14. 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 Feb 26; 7(4):415-20. PubMed ID: 10352931
    [Abstract] [Full Text] [Related]

  • 15. 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 26; 51(1):50-3. PubMed ID: 17081152
    [Abstract] [Full Text] [Related]

  • 16. Mutation screening in Chinese hypokalemic periodic paralysis patients.
    Wang W, Jiang L, Ye L, Zhu N, Su T, Guan L, Li X, Ning G.
    Mol Genet Metab; 2006 Apr 26; 87(4):359-63. PubMed ID: 16386935
    [Abstract] [Full Text] [Related]

  • 17. Association of a mutation in the ryanodine receptor 1 gene with equine malignant hyperthermia.
    Aleman M, Riehl J, Aldridge BM, Lecouteur RA, Stott JL, Pessah IN.
    Muscle Nerve; 2004 Sep 26; 30(3):356-65. PubMed ID: 15318347
    [Abstract] [Full Text] [Related]

  • 18. 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 26; 61(1):106-13. PubMed ID: 14732627
    [Abstract] [Full Text] [Related]

  • 19. Molecular genetic detection of susceptibility to malignant hyperthermia in Belgian families.
    Heytens L.
    Acta Anaesthesiol Belg; 2007 Jan 26; 58(2):113-8. PubMed ID: 17710899
    [Abstract] [Full Text] [Related]

  • 20. Progressive muscle atrophy with hypokalemic periodic paralysis and calcium channel mutation.
    Meyer T, Jurkat-Rott K, Huebner A, Lehmann-Horn F, Linke P, Van Landeghem F, Dullinger JS, Spuler S.
    Muscle Nerve; 2008 Jan 26; 37(1):120-4. PubMed ID: 17587224
    [Abstract] [Full Text] [Related]


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