| 1 | CCO, RYR1
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| Reduced threshold for store overload-induced Ca2+ release is a common defect of RyR1 mutations associated with malignant hyperthermia and central core disease.
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| Chen W, Koop A, Liu Y, Guo W, Wei J, Wang R, MacLennan DH, Dirksen RT, Chen SRW.
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| Biochem J 474(16):2749-2761. doi: 10.1042/BCJ20170282.
2017
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| 2 | CCO, MMDO, RYR1
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| Severe congenital RYR1-associated myopathy: The expanding clinicopathologic and genetic spectrum.
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| Bharucha-Goebel DX, Santi M, Medne L, Zukosky K, Dastgir J, Shieh PB, Winder T, Tennekoon G, Finkel RS, Dowling JJ, Monnier N, Bönnemann CG.
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| Neurology 80(17):1584-1589. Epub 2013 Apr 3.
2013
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| 3 | CCO, MMDO, RYR1
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| Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies.
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| Klein A, Lillis S, Munteanu I, Scoto M, Zhou H, Quinlivan R, Straub V, Manzur AY, Roper H, Jeannet PY, Rakowicz W, Jones DH, Jensen UB, Wraige E, Trump N, Schara U, Lochmuller H, Sarkozy A, Kingston H, Norwood F, Damian M, Kirschner J, Longman C, Roberts M, Auer-Grumbach M, Hughes I, Bushby K, Sewry C, Robb S, Abbs S, Jungbluth H, Muntoni F.
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| Hum Mutat 33(6):981-8. doi: 10.1002/humu.22056. Epub 2012 Apr 4. Erratum in: Hum Mutat. 2012 Aug;33(8):1310. 2012
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| 4 | CCO, MMDO, RYR1
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| Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies.
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| Klein A, Lillis S, Munteanu I, Scoto M, Zhou H, Quinlivan R, Straub V, Manzur AY, Roper H, Jeannet PY, Rakowicz W, Jones DH, Jensen UB, Wraige E, Trump N, Schara U, Lochmuller H, Sarkozy A, Kingston H, Norwood F, Damian M, Kirschner J, Longman C, Roberts M, Auer-Grumbach M, Hughes I, Bushby K, Sewry C, Robb S, Abbs S, Jungbluth H, Muntoni F.
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| Hum Mutat 33(6):981-8. doi: 10.1002/humu.22056. Epub 2012 Apr 4. Erratum in: Hum Mutat. 2012 Aug;33(8):1310.
2012
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| 5 | CCO, RYR1
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| RYR1 mutations are a common cause of congenital myopathies with central nuclei.
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| Wilmshurst JM, Lillis S, Zhou H, Pillay K, Henderson H, Kress W, Müller CR, Ndondo A, Cloke V, Cullup T, Bertini E, Boennemann C, Straub V, Quinlivan R, Dowling JJ, Al-Sarraj S, Treves S, Abbs S, Manzur AY, Sewry CA, Muntoni F, Jungbluth H.
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| Ann Neurol 68(5):717-26. doi: 10.1002/ana.22119.
2010
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| 6 | CCO, RYR1
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| Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.
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| Monnier N, Marty I, Faure J, Castiglioni C, Desnuelle C, Sacconi S, Estournet B, Ferreiro A, Romero N, Laquerriere A, Lazaro L, Martin JJ, Morava E, Rossi A, Van der Kooi A, de Visser M, Verschuuren C, Lunardi J.
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| Hum Mutat 29(5):670-8. 2008
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| 7 | RYR1, CCO
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| Two central core disease (CCD) deletions in the C-terminal region of RYR1 alter muscle excitation-contraction (EC) coupling by distinct mechanisms.
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| Lyfenko AD, Ducreux S, Wang Y, Xu L, Zorzato F, Ferreiro A, Meissner G, Treves S, Dirksen RT.
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| Hum Mutat 28(1):61-8. 2007
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| 8 | CCO, RYR1
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| Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene.
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| Jungbluth H, Zhou H, Sewry CA, Robb S, Treves S, Bitoun M, Guicheney P, Buj-Bello A, Bönnemann C, Muntoni F.
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| Neuromuscul Disord 17(4):338-45. Epub 2007 Mar 21.
2007
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| 9 | CCO, RYR1
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| Central core disease due to recessive mutations in RYR1 gene: is it more common than described?
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| Kossugue PM, Paim JF, Navarro MM, Silva HC, Pavanello RC, Gurgel-Giannetti J, Zatz M, Vainzof M.
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| Muscle Nerve 35(5):670-4.
2007
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| 10 | CCO, RYR1
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| Characterization of recessive RYR1 mutations in core myopathies.
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| Zhou H, Yamaguchi N, Xu L, Wang Y, Sewry C, Jungbluth H, Zorzato F, Bertini E, Muntoni F, Meissner G, Treves S.
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| Hum Mol Genet 15(18):2791-803. Epub 2006 Aug 29. 2006
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| 11 | RYR1, CCO, MHS1
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| Mutations in RYR1 in malignant hyperthermia and central core disease.
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| Robinson R, Carpenter D, Shaw MA, Halsall J, Hopkins P.
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| Hum Mutat 27(10):977-89. Review. 2006
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| 12 | RYR1, CCO
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| Central core disease is due to RYR1 mutations in more than 90% of patients.
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| Wu S, Ibarra MC, Malicdan MC, Murayama K, Ichihara Y, Kikuchi H, Nonaka I, Noguchi S, Hayashi YK, Nishino I.
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| Brain 129(Pt 6):1470-80. Epub 2006 Apr 18. 2006
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| 13 | RYR1, CCO
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| A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation.
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| Rueffert H, Olthoff D, Deutrich C, Schober R, Froster UG.
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| Am J Med Genet 124A(3):248-54. 2004
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| 14 | RYR1, CCO
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| Central core disease mutations R4892W, I4897T and G4898E in the ryanodine receptor isoform 1 reduce the Ca2+ sensitivity and amplitude of Ca2+-dependent Ca2+ release.
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| Du GG, Khanna VK, Guo X, MacLennan DH.
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| Biochem J 382(Pt 2):557-64. 2004
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| 15 | CCO, RYR1
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| Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptor
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| Zorzato F, Yamaguchi N, Xu L, Meissner G, Muller CR, Pouliquin P, Muntoni F, Sewry C, Girard T, Treves S.
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| Hum Mol Genet 12(4):379-88. 2003
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| 16 | CCO, MHS1, RYR1
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| RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes.
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| Robinson RL, Brooks C, Brown SL, Ellis FR, Halsall PJ, Quinnell RJ, Shaw MA, Hopkins PM.
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| Hum Mutat 20(2):88-97. 2002
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| 17 | CCO, RYR1
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| A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene.
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| Ferreiro A, Monnier N, Romero NB, Leroy JP, Bonnemann C, Haenggeli CA, Straub V, Voss WD, Nivoche Y, Jungbluth H, Lemainque A, Voit T, Lunardi J, Fardeau M, Guicheney P.
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| Ann Neurol 51(6):750-9. 2002
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| 18 | CCO, RYR1
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| Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.
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| Jungbluth H, Muller CR, Halliger-Keller B, Brockington M, Brown SC, Feng L, Chattopadhyay A, Mercuri E, Manzur AY, Ferreiro A, Laing NG, Davis MR, Roper HP, Dubowitz V, Bydder G, Sewry CA, Muntoni F.
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| Neurology 59(2):284-7. 2002
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| 19 | CCO, RYR1
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| Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.
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| Monnier N, Romero NB, Lerale J, Landrieu P, Nivoche Y, Fardeau M, Lunardi J.
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| Hum Mol Genet 10(22):2581-92. 2001
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| 20 | CCO, RYR1
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| Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis.
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| Tilgen N, Zorzato F, Halliger-Keller B, Muntoni F, Sewry C, Palmucci LM, Schneider C, Hauser E, Lehmann-Horn F, Muller CR, Treves S.
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| Hum Mol Genet 10(25):2879-87. 2001
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| 21 | CCO, MHS1, RYR1
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| Ryanodine receptor mutations in malignant hyperthermia and central core disease.
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| McCarthy TV, Quane KA, Lynch PJ.
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| Hum Mutat 15(5):410-7. 2000
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| 22 | CCO, RYR1
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| An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor.
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| Monnier N, Romero NB, Lerale J, Nivoche Y, Qi D, MacLennan DH, Fardeau M, Lunardi J.
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| Hum Mol Genet 9(18):2599-608. 2000
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| 23 | CCO, RYR1
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| A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease.
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| Lynch PJ, et al.
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| Proc Natl Acad Sci U S A 96(7):4164-9. 1999
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| 24 | CCO, MHS1, RYR1
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| Recombination between the postulated CCD/MHE/MHS locus and RYR1 gene markers.
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| Fagerlund TH, et al.
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| Clin Genet 50 : 455-458. 1996
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| 25 | MHS1, RYR1, CCO
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| Mutation screening of the RYR1 gene in malignant hyperthermia : detection of a novel Tyr to Ser mutation in a pedigree with associated central cores.
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| Quane KA, et al.
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| Genomics 23 : 236-239. 1994
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| 26 | CCO
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| Multipoint mapping of the central core disease locus.
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| Schwemmle S, et al.
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| Genomics 17 : 205-207. 1993
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| 27 | CCO
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| Refined genetic localization for central core disease.
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| Mulley JC, et al.
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| Am J Hum Genet 52 : 398-405. 1993
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| 28 | MHS1, RYR1, CCO
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| Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia.
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| Quane KA, et al.
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| Nat Genet 5 : 51-55. 1993
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| 29 | RYR1, CCO
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| A mutation in the human ryanodine receptor gene associated with central core disease.
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| Zhang Y, et al.
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| Nat Genet 5 : 46-50. 1993
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| 30 | CCO
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| Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19.
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| Kausch K, et al.
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| Genomics 10 : 765-769. 1991
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| 31 | CCO
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| Assignment of the gene for central core disease to chromosome 19.
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| Haan EA, et al.
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| Hum Genet 86 : 187-190. 1990
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