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2. Ca2+ dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods. Zvaritch E; Kraeva N; Bombardier E; McCloy RA; Depreux F; Holmyard D; Kraev A; Seidman CE; Seidman JG; Tupling AR; MacLennan DH Proc Natl Acad Sci U S A; 2009 Dec; 106(51):21813-8. PubMed ID: 19959667 [TBL] [Abstract][Full Text] [Related]
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6. Ca2+ signaling in HEK-293 and skeletal muscle cells expressing recombinant ryanodine receptors harboring malignant hyperthermia and central core disease mutations. Brini M; Manni S; Pierobon N; Du GG; Sharma P; MacLennan DH; Carafoli E J Biol Chem; 2005 Apr; 280(15):15380-9. PubMed ID: 15689621 [TBL] [Abstract][Full Text] [Related]
7. An Ryr1I4895T mutation abolishes Ca2+ release channel function and delays development in homozygous offspring of a mutant mouse line. Zvaritch E; Depreux F; Kraeva N; Loy RE; Goonasekera SA; Boncompagni S; Kraev A; Gramolini AO; Dirksen RT; Franzini-Armstrong C; Seidman CE; Seidman JG; Maclennan DH Proc Natl Acad Sci U S A; 2007 Nov; 104(47):18537-42. PubMed ID: 18003898 [TBL] [Abstract][Full Text] [Related]
8. 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; 9(18):2599-608. PubMed ID: 11063719 [TBL] [Abstract][Full Text] [Related]
9. The I4895T mutation in the type 1 ryanodine receptor induces fiber-type specific alterations in skeletal muscle that mimic premature aging. Boncompagni S; Loy RE; Dirksen RT; Franzini-Armstrong C Aging Cell; 2010 Dec; 9(6):958-70. PubMed ID: 20961389 [TBL] [Abstract][Full Text] [Related]
10. A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease. Lynch PJ; Tong J; Lehane M; Mallet A; Giblin L; Heffron JJ; Vaughan P; Zafra G; MacLennan DH; McCarthy TV Proc Natl Acad Sci U S A; 1999 Mar; 96(7):4164-9. PubMed ID: 10097181 [TBL] [Abstract][Full Text] [Related]
11. Measurement of resting cytosolic Ca2+ concentrations and Ca2+ store size in HEK-293 cells transfected with malignant hyperthermia or central core disease mutant Ca2+ release channels. Tong J; McCarthy TV; MacLennan DH J Biol Chem; 1999 Jan; 274(2):693-702. PubMed ID: 9873004 [TBL] [Abstract][Full Text] [Related]
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13. De novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins. Hernandez-Lain A; Husson I; Monnier N; Farnoux C; Brochier G; Lacène E; Beuvin M; Viou M; Manéré L; Claeys KG; Fardeau M; Lunardi J; Voit T; Romero NB Eur J Med Genet; 2011; 54(1):29-33. PubMed ID: 20888934 [TBL] [Abstract][Full Text] [Related]
15. Muscle spindles exhibit core lesions and extensive degeneration of intrafusal fibers in the Ryr1(I4895T/wt) mouse model of core myopathy. Zvaritch E; MacLennan DH Biochem Biophys Res Commun; 2015 Apr; 460(1):34-9. PubMed ID: 25619131 [TBL] [Abstract][Full Text] [Related]
16. 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 [TBL] [Abstract][Full Text] [Related]
18. Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. Jungbluth H; Lillis S; Zhou H; Abbs S; Sewry C; Swash M; Muntoni F Neuromuscul Disord; 2009 May; 19(5):344-7. PubMed ID: 19303294 [TBL] [Abstract][Full Text] [Related]
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20. [Molecular pathology of malignant hyperthermia and central core disease]. Takagi A Nihon Rinsho; 1997 Dec; 55(12):3307-14. PubMed ID: 9436456 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]