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347 related items for PubMed ID: 14732627

  • 1. 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
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  • 3. Ryanodine receptor mutations in malignant hyperthermia and central core disease.
    McCarthy TV, Quane KA, Lynch PJ.
    Hum Mutat; 2000 Jan; 15(5):410-7. PubMed ID: 10790202
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  • 4. 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 Jan; 28(6):409-16. PubMed ID: 19919814
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  • 6. 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
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  • 8. 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
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  • 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
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  • 10. Core myopathies and risk of malignant hyperthermia.
    Klingler W, Rueffert H, Lehmann-Horn F, Girard T, Hopkins PM.
    Anesth Analg; 2009 Oct; 109(4):1167-73. PubMed ID: 19762745
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  • 11. 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
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  • 12. 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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  • 13. Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families.
    Barone V, Massa O, Intravaia E, Bracco A, Di Martino A, Tegazzin V, Cozzolino S, Sorrentino V.
    J Med Genet; 1999 Feb; 36(2):115-8. PubMed ID: 10051009
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  • 14. 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 27; 65(12):1930-5. PubMed ID: 16380615
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  • 15. 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 27; 30(4):590-8. PubMed ID: 19191329
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  • 16. 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 27; 108(2):208-15. PubMed ID: 18212565
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  • 17. Autosomal dominant canine malignant hyperthermia is caused by a mutation in the gene encoding the skeletal muscle calcium release channel (RYR1).
    Roberts MC, Mickelson JR, Patterson EE, Nelson TE, Armstrong PJ, Brunson DB, Hogan K.
    Anesthesiology; 2001 Sep 27; 95(3):716-25. PubMed ID: 11575546
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  • 18. [Biology of malignant hyperthermia: a disease of the calcium channels of the skeletal muscle].
    Monnier N, Lunardi J.
    Ann Biol Clin (Paris); 2000 Sep 27; 58(2):147-56. PubMed ID: 10760701
    [Abstract] [Full Text] [Related]

  • 19. Multiminicore myopathy, central core disease, malignant hyperthermia susceptibility, and RYR1 mutations: one disease with many faces?
    Mathews KD, Moore SA.
    Arch Neurol; 2004 Jan 27; 61(1):27-9. PubMed ID: 14732615
    [No Abstract] [Full Text] [Related]

  • 20. An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor.
    Monnier N, Romero NB, Lerale J, Nivoche Y, Qi D, MacLennan DH, Fardeau M, Lunardi J.
    Hum Mol Genet; 2000 Nov 01; 9(18):2599-608. PubMed ID: 11063719
    [Abstract] [Full Text] [Related]

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