These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

353 related items for PubMed ID: 22030266

  • 1. A study of a family with the skeletal muscle RYR1 mutation (c.7354C>T) associated with central core myopathy and malignant hyperthermia susceptibility.
    Taylor A, Lachlan K, Manners RM, Lotery AJ.
    J Clin Neurosci; 2012 Jan; 19(1):65-70. PubMed ID: 22030266
    [Abstract] [Full Text] [Related]

  • 2.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

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

  • 4. 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]

  • 5. Mutations in RYR1 in malignant hyperthermia and central core disease.
    Robinson R, Carpenter D, Shaw MA, Halsall J, Hopkins P.
    Hum Mutat; 2006 Oct 01; 27(10):977-89. PubMed ID: 16917943
    [Abstract] [Full Text] [Related]

  • 6. Ryanodine receptor mutations in malignant hyperthermia and central core disease.
    McCarthy TV, Quane KA, Lynch PJ.
    Hum Mutat; 2000 Oct 01; 15(5):410-7. PubMed ID: 10790202
    [Abstract] [Full Text] [Related]

  • 7. Core myopathies and malignant hyperthermia susceptibility: a review.
    Brislin RP, Theroux MC.
    Paediatr Anaesth; 2013 Sep 01; 23(9):834-41. PubMed ID: 23617272
    [Abstract] [Full Text] [Related]

  • 8. 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 01; 61(1):106-13. PubMed ID: 14732627
    [Abstract] [Full Text] [Related]

  • 9. 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 01; 25(7):567-76. PubMed ID: 25958340
    [Abstract] [Full Text] [Related]

  • 10. 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 Jul 01; 28(6):409-16. PubMed ID: 19919814
    [Abstract] [Full Text] [Related]

  • 11. 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 01; 26(5):413-25. PubMed ID: 16163667
    [Abstract] [Full Text] [Related]

  • 12. Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation.
    Böhm J, Leshinsky-Silver E, Vassilopoulos S, Le Gras S, Lerman-Sagie T, Ginzberg M, Jost B, Lev D, Laporte J.
    Acta Neuropathol; 2012 Oct 01; 124(4):575-81. PubMed ID: 22752422
    [Abstract] [Full Text] [Related]

  • 13. Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations.
    Jungbluth H, Davis MR, Müller C, Counsell S, Allsop J, Chattopadhyay A, Messina S, Mercuri E, Laing NG, Sewry CA, Bydder G, Muntoni F.
    Neuromuscul Disord; 2004 Dec 01; 14(12):785-90. PubMed ID: 15564033
    [Abstract] [Full Text] [Related]

  • 14. 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
    [Abstract] [Full Text] [Related]

  • 15. 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 01; 111(1):185-90. PubMed ID: 20142353
    [Abstract] [Full Text] [Related]

  • 16. 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 01; 129(Pt 6):1470-80. PubMed ID: 16621918
    [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 01; 35(5):670-4. PubMed ID: 17226826
    [Abstract] [Full Text] [Related]

  • 18. RYR1-Related Myopathies: Clinical, Histopathologic and Genetic Heterogeneity Among 17 Patients from a Portuguese Tertiary Centre.
    Samões R, Oliveira J, Taipa R, Coelho T, Cardoso M, Gonçalves A, Santos R, Melo Pires M, Santos M.
    J Neuromuscul Dis; 2017 May 01; 4(1):67-76. PubMed ID: 28269792
    [Abstract] [Full Text] [Related]

  • 19. Core myopathies and risk of malignant hyperthermia.
    Klingler W, Rueffert H, Lehmann-Horn F, Girard T, Hopkins PM.
    Anesth Analg; 2009 Oct 01; 109(4):1167-73. PubMed ID: 19762745
    [Abstract] [Full Text] [Related]

  • 20. Muscle imaging in dominant core myopathies linked or unlinked to the ryanodine receptor 1 gene.
    Fischer D, Herasse M, Ferreiro A, Barragán-Campos HM, Chiras J, Viollet L, Maugenre S, Leroy JP, Monnier N, Lunardi J, Guicheney P, Fardeau M, Romero NB.
    Neurology; 2006 Dec 26; 67(12):2217-20. PubMed ID: 17190947
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 18.