| scholarly article | Q13442814 |
| P356 | DOI | 10.1016/J.SPEN.2011.10.005 |
| P698 | PubMed publication ID | 22172419 |
| P2093 | author name string | Francesco Muntoni | |
| Caroline A Sewry | |||
| Heinz Jungbluth | |||
| P433 | issue | 4 | |
| P304 | page(s) | 239-249 | |
| P577 | publication date | 2011-12-01 | |
| P1433 | published in | Seminars in pediatric neurology | Q26853793 |
| P1476 | title | Core myopathies | |
| P478 | volume | 18 |
| Q55498109 | 6-minute walk test as a measure of disease progression and fatigability in a cohort of individuals with RYR1-related myopathies. |
| Q58805854 | A Rare Case of Severe Congenital RYR1-Associated Myopathy |
| Q45800786 | A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene |
| Q92740565 | Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies |
| Q35737711 | Adolescent idiopathic scoliosis without limb weakness: a differential diagnosis of core myopathy? |
| Q51553063 | Adult-onset respiratory insufficiency, scoliosis, and distal joint hyperlaxity in patients with multiminicore disease due to novel Megf10 mutations. |
| Q34797333 | An integrated diagnosis strategy for congenital myopathies. |
| Q31032086 | Axial myopathy: an overlooked feature of muscle diseases. |
| Q28078298 | Calcium Dyshomeostasis in Tubular Aggregate Myopathy |
| Q38969543 | Calcium at the Center of Cell Signaling: Interplay between Endoplasmic Reticulum, Mitochondria, and Lysosomes |
| Q28542525 | Calcium homeostasis in myogenic differentiation factor 1 (MyoD)-transformed, virally-transduced, skin-derived equine myotubes |
| Q41750961 | Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort. |
| Q47134873 | Congenital myopathies: clinical phenotypes and new diagnostic tools |
| Q49388884 | Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction |
| Q38101594 | Core myopathies and malignant hyperthermia susceptibility: a review |
| Q92238728 | Cored in the act: the use of models to understand core myopathies |
| Q33799606 | Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement |
| Q36615500 | EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy |
| Q91612244 | Epidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish region |
| Q29977760 | Epigenetic changes as a common trigger of muscle weakness in congenital myopathies |
| Q37589746 | Feeding and Swallowing Disorders in Pediatric Neuromuscular Diseases: An Overview |
| Q55397765 | Inositol trisphosphate receptor-mediated Ca2+ signalling stimulates mitochondrial function and gene expression in core myopathy patients. |
| Q92430344 | Interactions among ryanodine receptor isotypes contribute to muscle fiber type development and function |
| Q24297615 | JP-45/JSRP1 variants affect skeletal muscle excitation-contraction coupling by decreasing the sensitivity of the dihydropyridine receptor |
| Q92462397 | KLHL40 Mutation Associated with Severe Nemaline Myopathy, Fetal Akinesia, and Cleft Palate |
| Q26799652 | Malignant hyperthermia: a review |
| Q36112139 | Muscle biopsy evaluation in neuromuscular disorders. |
| Q44749563 | Myopathic changes in malignant hyperthermia-susceptible patients |
| Q39038887 | Myopathology in congenital myopathies |
| Q38767197 | Myopathology in times of modern imaging |
| Q52647770 | Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings. |
| Q21131067 | Pathogenic mechanisms in centronuclear myopathies |
| Q28087567 | Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus |
| Q41955529 | Potassium dependent rescue of a myopathy with core-like structures in mouse |
| Q87793566 | Prominent myalgia-an important clue in the diagnosis of a muscle disorder |
| Q37637049 | Recessive TTN truncating mutations define novel forms of core myopathy with heart disease |
| Q61795880 | Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy |
| Q28078420 | Review of RyR1 pathway and associated pathomechanisms |
| Q35908344 | Rhabdomyolysis: a genetic perspective. |
| Q58600210 | Ryanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches |
| Q36786555 | Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States |
| Q36870145 | Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum |
| Q34013321 | 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 |
| Q38395355 | The neuromuscular differential diagnosis of joint hypermobility |
| Q35340211 | Triadopathies: an emerging class of skeletal muscle diseases |
Search more.