Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 4 (of 4 Records) |
Query Trace: Central Core Disease[original query] |
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Malignant hyperthermia in North America: genetic screening of the three hot spots in the type I ryanodine receptor gene. Anesthesiology 2004 Oct 101 (4): 824-30. Sei Yoshitatsu, Sambuughin Nyamkhishig N, Davis Edward J, Sachs Daniel, Cuenca Phil B, Brandom Barbara W, Tautz Timothy, Rosenberg Henry, Nelson Thomas E, Muldoon Sheila |
Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene. Neurology 2005 12 65 (12): 1930-5. Jungbluth H, Zhou H, Hartley L, Halliger-Keller B, Messina S, Longman C, Brockington M, Robb S A, Straub V, Voit T, Swash M, Ferreiro A, Bydder G, Sewry C A, Müller C, Muntoni |
Next generation sequencing reveals ryanodine receptor 1 mutations in a Chinese central core disease cohort. Muscle & nerve 2016 Jan . Zhao Yan, Hu Jing, Zhao Zhe, Shen Hongrui, Bing Qi, Li N |
Variant landscape of the RYR1 gene based on whole genome sequencing of the Singaporean population. Scientific reports 2022 4 12 (1): 5429. Foo Claribel Tian Yu, To Yi Hui, Irwanto Astrid, Ng Alvin Yu-Jin, Yan Benedict, Chew Sophia Tsong Huey, Liu Jianjun, Ti Lian K |
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