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.
234 related articles for article (PubMed ID: 12565913)
1. Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene. Davis MR; Haan E; Jungbluth H; Sewry C; North K; Muntoni F; Kuntzer T; Lamont P; Bankier A; Tomlinson P; Sánchez A; Walsh P; Nagarajan L; Oley C; Colley A; Gedeon A; Quinlivan R; Dixon J; James D; Müller CR; Laing NG Neuromuscul Disord; 2003 Feb; 13(2):151-7. PubMed ID: 12565913 [TBL] [Abstract][Full Text] [Related]
2. 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]
3. Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor. Monnier N; Romero NB; Lerale J; Landrieu P; Nivoche Y; Fardeau M; Lunardi J Hum Mol Genet; 2001 Oct; 10(22):2581-92. PubMed ID: 11709545 [TBL] [Abstract][Full Text] [Related]
4. A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree. Brown RL; Pollock AN; Couchman KG; Hodges M; Hutchinson DO; Waaka R; Lynch P; McCarthy TV; Stowell KM Hum Mol Genet; 2000 Jun; 9(10):1515-24. PubMed ID: 10888602 [TBL] [Abstract][Full Text] [Related]
5. 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. Tilgen N; Zorzato F; Halliger-Keller B; Muntoni F; Sewry C; Palmucci LM; Schneider C; Hauser E; Lehmann-Horn F; Müller CR; Treves S Hum Mol Genet; 2001 Dec; 10(25):2879-87. PubMed ID: 11741831 [TBL] [Abstract][Full Text] [Related]
6. 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; 4(1):67-76. PubMed ID: 28269792 [TBL] [Abstract][Full Text] [Related]
7. Ryanodine receptor mutations in malignant hyperthermia and central core disease. McCarthy TV; Quane KA; Lynch PJ Hum Mutat; 2000; 15(5):410-7. PubMed ID: 10790202 [TBL] [Abstract][Full Text] [Related]
8. Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test. Brandt A; Schleithoff L; Jurkat-Rott K; Klingler W; Baur C; Lehmann-Horn F Hum Mol Genet; 1999 Oct; 8(11):2055-62. PubMed ID: 10484775 [TBL] [Abstract][Full Text] [Related]
9. [Genetic of diseases by abnormal functioning of the skeletal muscle-calcium releasing complex]. Lunardi J; Monnier N Rev Neurol (Paris); 2004 May; 160(5 Pt 2):S70-7. PubMed ID: 15269663 [TBL] [Abstract][Full Text] [Related]
10. [Hot spot mutation screening of RYR1 gene in diagnosis of congenital myopathies]. Chang XZ; Jin YW; Wang JM; Yuan Y; Xiong H; Wang S; Qin J Beijing Da Xue Xue Bao Yi Xue Ban; 2014 Oct; 46(5):691-7. PubMed ID: 25331388 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies. Zhou H; Brockington M; Jungbluth H; Monk D; Stanier P; Sewry CA; Moore GE; Muntoni F Am J Hum Genet; 2006 Nov; 79(5):859-68. PubMed ID: 17033962 [TBL] [Abstract][Full Text] [Related]
13. 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 [TBL] [Abstract][Full Text] [Related]
14. Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case report. Cuperman T; Fernandes SA; Lourenço NC; Yamamoto LU; Silva HC; Pavanello RC; Yamamoto GL; Zatz M; Oliveira AS; Vainzof M BMC Res Notes; 2014 Aug; 7():487. PubMed ID: 25084811 [TBL] [Abstract][Full Text] [Related]
16. 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; 65(12):1930-5. PubMed ID: 16380615 [TBL] [Abstract][Full Text] [Related]
17. 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; 67(12):2217-20. PubMed ID: 17190947 [TBL] [Abstract][Full Text] [Related]
18. RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene. Shepherd S; Ellis F; Halsall J; Hopkins P; Robinson R J Med Genet; 2004 Mar; 41(3):e33. PubMed ID: 14985404 [No Abstract] [Full Text] [Related]
19. 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; 124(4):575-81. PubMed ID: 22752422 [TBL] [Abstract][Full Text] [Related]
20. Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores. Jungbluth H; Müller 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 Neurology; 2002 Jul; 59(2):284-7. PubMed ID: 12136074 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]