| scholarly article | Q13442814 |
| P2093 | author name string | James J Dowling | |
| Livija Medne | |||
| Mariarita Santi | |||
| Richard S Finkel | |||
| Thomas Winder | |||
| Nicole Monnier | |||
| Kristen Zukosky | |||
| Carsten G Bönnemann | |||
| Perry B Shieh | |||
| Jahannaz Dastgir | |||
| Gihan Tennekoon | |||
| Diana Xerxes Bharucha-Goebel | |||
| P2860 | cites work | Central core disease | Q21202972 |
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| Centronuclear myopathies: a widening concept | Q37697970 | ||
| Core myopathies | Q37968743 | ||
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| RYR1 mutations are a common cause of congenital myopathies with central nuclei | Q42908171 | ||
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| Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees. | Q44029435 | ||
| Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores. | Q44075701 | ||
| The spectrum of pathology in central core disease | Q44239689 | ||
| Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia | Q44560638 | ||
| Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores. | Q46769258 | ||
| Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene | Q46870339 | ||
| Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate | Q49059110 | ||
| Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies | Q57334263 | ||
| Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene | Q61794284 | ||
| Congenital myopathies in the new millennium | Q81582361 | ||
| De novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins | Q85122578 | ||
| P433 | issue | 17 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | congenital disorder | Q727096 |
| P304 | page(s) | 1584-1589 | |
| P577 | publication date | 2013-04-03 | |
| P1433 | published in | Neurology | Q1161692 |
| P1476 | title | Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum | |
| P478 | volume | 80 |
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| Q34739919 | Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome |
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| Q51063227 | Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. |
| Q38395355 | The neuromuscular differential diagnosis of joint hypermobility |
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