| P50 | author | Mayana Zatz | Q2920198 |
| P2093 | author name string | Mariz Vainzof | |
| | Stephanie A Fernandes | |
| | Helga C A Silva | |
| | Acary S B Oliveira | |
| | Lydia U Yamamoto | |
| | Rita C M Pavanello | |
| | Guilherme L Yamamoto | |
| | Naila C V Lourenço | |
| | Thais Cuperman | |
| P2860 | cites work | The spectrum of pathology in central core disease | Q44239689 |
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| | A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation | Q75225773 |
| | The role of immunocytochemistry in congenital myopathies | Q77131937 |
| | Central core disease due to recessive mutations in RYR1 gene: is it more common than described? | Q79568449 |
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| | 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 | Q29871452 |
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| | Population Differences in the Rate of Proliferation of International HapMap Cell Lines | Q34381762 |
| | Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders. | Q34440824 |
| | Central core disease is due to RYR1 mutations in more than 90% of patients. | Q34514718 |
| | A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease | Q36460971 |
| | Mutations in RYR1 in malignant hyperthermia and central core disease | Q36569488 |
| | Central core myopathy with RYR1 mutation masks 5q spinal muscular atrophy | Q37746346 |
| | Core myopathies | Q37968743 |
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| | Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor | Q43800108 |
| P304 | page(s) | 487 | |
| P577 | publication date | 2014-08-01 | |
| P1433 | published in | BMC Research Notes | Q15762797 |
| P1476 | title | 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 | |
| P478 | volume | 7 | |