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116 related items for PubMed ID: 11216663

  • 1. Does the A3333G mutation in the CACNL1A3 gene, detected in malignant hyperthermia, also occur in central core disease?
    Vainzof M, Muniz VP, Tsanaclis AM, Silva HC, Rusticci MS.
    Genet Test; 2000; 4(4):383-6. PubMed ID: 11216663
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  • 2. 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
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  • 3. Ryanodine receptor mutations in malignant hyperthermia and central core disease.
    McCarthy TV, Quane KA, Lynch PJ.
    Hum Mutat; 2000 Aug; 15(5):410-7. PubMed ID: 10790202
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  • 6. [Molecular pathology of malignant hyperthermia and central core disease].
    Takagi A.
    Nihon Rinsho; 1997 Dec; 55(12):3307-14. PubMed ID: 9436456
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  • 11. Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel.
    Murayama T, Kurebayashi N, Ogawa H, Yamazawa T, Oyamada H, Suzuki J, Kanemaru K, Oguchi K, Iino M, Sakurai T.
    Hum Mutat; 2016 Nov; 37(11):1231-1241. PubMed ID: 27586648
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  • 13. Screening for mutations in the RYR1 gene in families with malignant hyperthermia.
    Muniz VP, Silva HC, Tsanaclis AM, Vainzof M.
    J Mol Neurosci; 2003 Nov; 21(1):35-42. PubMed ID: 14500992
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  • 14. Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy.
    Kraeva N, Heytens L, Jungbluth H, Treves S, Voermans N, Kamsteeg E, Ceuterick-de Groote C, Baets J, Riazi S.
    Neuromuscul Disord; 2015 Jul; 25(7):567-76. PubMed ID: 25958340
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  • 15. Dynamic alterations in myoplasmic Ca2+ in malignant hyperthermia and central core disease.
    Lyfenko AD, Goonasekera SA, Dirksen RT.
    Biochem Biophys Res Commun; 2004 Oct 01; 322(4):1256-66. PubMed ID: 15336973
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  • 18. Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle.
    Monnier N, Procaccio V, Stieglitz P, Lunardi J.
    Am J Hum Genet; 1997 Jun 01; 60(6):1316-25. PubMed ID: 9199552
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  • 20. Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms.
    Duarte ST, Oliveira J, Santos R, Pereira P, Barroso C, Conceição I, Evangelista T.
    Muscle Nerve; 2011 Jul 01; 44(1):102-8. PubMed ID: 21674524
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