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.
114 related articles for article (PubMed ID: 18948004)
41. Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia. Parker R; Schiemann AH; Langton E; Bulger T; Pollock N; Bjorksten A; Gillies R; Hutchinson D; Roxburgh R; Stowell KM J Neuromuscul Dis; 2017; 4(2):147-158. PubMed ID: 28527222 [TBL] [Abstract][Full Text] [Related]
42. Asymmetric Muscle Involvement in an Indian Family With Central Core Myopathy. Adam RK; Kasinathan A; Sankhyan N; Singhi P J Clin Neuromuscul Dis; 2018 Mar; 19(3):142-143. PubMed ID: 29465616 [No Abstract] [Full Text] [Related]
43. 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]
54. Altered ryanodine receptor function in central core disease: leaky or uncoupled Ca(2+) release channels? Dirksen RT; Avila G Trends Cardiovasc Med; 2002 Jul; 12(5):189-97. PubMed ID: 12161072 [TBL] [Abstract][Full Text] [Related]
55. Familial desmin-related myopathies and cardiomyopathies--from myopathology to molecular and clinical genetics. 36th European Neuromuscular Center (ENMC)-Sponsored International Workshop 20-22 October, 1995, Naarden, The Netherlands. Goebel HH; Fardeau M Neuromuscul Disord; 1996 Oct; 6(5):383-8. PubMed ID: 8938703 [No Abstract] [Full Text] [Related]
56. 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]
57. Clinical features and ryanodine receptor type 1 gene mutation analysis in a Chinese family with central core disease. Chang X; Jin Y; Zhao H; Huang Q; Wang J; Yuan Y; Han Y; Qin J J Child Neurol; 2013 Mar; 28(3):384-8. PubMed ID: 22550088 [TBL] [Abstract][Full Text] [Related]
58. Familial RYR 1 mutation associated with mild and severe central core disease. Erendzhinova E; Robinson CA; Lowry NJ; Lemire EG Can J Neurol Sci; 2010 Jul; 37(4):528-31. PubMed ID: 20724266 [No Abstract] [Full Text] [Related]
59. Functional effects of central core disease mutations in the cytoplasmic region of the skeletal muscle ryanodine receptor. Avila G; Dirksen RT J Gen Physiol; 2001 Sep; 118(3):277-90. PubMed ID: 11524458 [TBL] [Abstract][Full Text] [Related]
60. Selenoprotein function and muscle disease. Lescure A; Rederstorff M; Krol A; Guicheney P; Allamand V Biochim Biophys Acta; 2009 Nov; 1790(11):1569-74. PubMed ID: 19285112 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]