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Journal Article
Human Mutation, ISSN 1059-7794, 11/2016, Volume 37, Issue 11, pp. 1231 - 1241
Type 1 ryanodine receptor (RYR1) is a Ca 2+ release channel in the sarcoplasmic reticulum of skeletal muscle and is mutated in some muscle diseases, including... 
central core disease | genotype–phenotype correlation | calcium release channel | ryanodine receptor | calcium‐induced calcium release | skeletal muscle | malignant hyperthermia | muscle disease | sarcoplasmic reticulum | Malignant hyperthermia | Sarcoplasmic reticulum | Ryanodine receptor | Genotype-phenotype correlation | Muscle disease | Calcium release channel | Central core disease | Calcium-induced calcium release | Skeletal muscle | calcium-induced calcium release | VITRO CONTRACTURE TEST | RYANODINE-RECEPTOR GENE | POSTULATED ROLE | genotype-phenotype correlation | CRYSTAL-STRUCTURES | FUNCTIONAL-CHARACTERIZATION | MUSCLE SARCOPLASMIC-RETICULUM | SKELETAL-MUSCLE | KNOCK-IN MOUSE | CALCIUM-RELEASE | GENETICS & HEREDITY | CA2+ RELEASE CHANNELS | Myopathy, Central Core - metabolism | Genetic Predisposition to Disease | Protein Structure, Secondary | Calcium - metabolism | Humans | Endoplasmic Reticulum - metabolism | Models, Molecular | Ryanodine Receptor Calcium Release Channel - metabolism | Malignant Hyperthermia - genetics | Ryanodine Receptor Calcium Release Channel - genetics | HEK293 Cells | Ryanodine Receptor Calcium Release Channel - chemistry | Sarcoplasmic Reticulum - metabolism | Mutation | Myopathy, Central Core - genetics | Malignant Hyperthermia - metabolism | Muscles | Genetic aspects | Caffeine | Musculoskeletal system | Genotype & phenotype | Disease | Cancer
Journal Article
Journal Article
Journal Article
Journal Article
Neuropathology and Applied Neurobiology, ISSN 0305-1846, 04/2011, Volume 37, Issue 3, pp. 271 - 284
J. A. Bevilacqua, N. Monnier, M. Bitoun, B. Eymard, A. Ferreiro, S. Monges, F. Lubieniecki, A. L. Taratuto, A. Laquerrière, K. G. Claeys, I. Marty, M. Fardeau,... 
RYR1 | recessive mutations | myofibrillar disorganization | nuclear internalization | gene | congenital myopathy | Congenital myopathy | Nuclear internalization | RYR1 gene | Myofibrillar disorganization | Recessive mutations | MULTI-MINICORE DISEASE | CENTRONUCLEAR MYOPATHY | PHOSPHATASE | DYNAMIN-2 | DOMINANT | PATHOLOGY | NEUROSCIENCES | CLINICAL NEUROLOGY | MUSCLE RYANODINE RECEPTOR | SKELETAL-MUSCLE | FIBERS | GENE | CENTRAL CORE DISEASE | Immunohistochemistry | Myopathy, Central Core - metabolism | Microscopy, Electron, Transmission | Humans | Male | Cell Nucleus - ultrastructure | Genes, Recessive | Young Adult | Phenotype | Cell Nucleus - metabolism | Myopathy, Central Core - pathology | Myofibrils - ultrastructure | Ryanodine Receptor Calcium Release Channel - genetics | Pedigree | Adolescent | Polymerase Chain Reaction | Adult | Female | Mutation | Child | Myopathy, Central Core - genetics | Genetic research | Neurosciences | Genetic aspects | Genetic disorders | Children's hospitals | Histochemistry | Neonates | Malignant hyperthermia | Neuropathology | Muscles | Ryanodine receptors | Data processing | Nervous system | Nuclei | Biopsy | Ophthalmoplegia | Transmembrane domains | Sarcomeres | Myopathy | Myopathy, Central Core | Ryanodine Receptor Calcium Release Channel | Myofibrils | Life Sciences | Genetics | Cell Nucleus
Journal Article
Journal Article