Central core disease is due to RYR1 mutations in more than 90% of patients
Author:
Publisher
Oxford University Press (OUP)
Subject
Clinical Neurology
Link
http://academic.oup.com/brain/article-pdf/129/6/1470/838779/awl077.pdf
Cited by 162 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Familial hyperCKemia with exercise-induced myalgia associated with a novel missense variant in RYR1;Brain and Development Case Reports;2024-09
2. Generation of two iPSC lines from patients with inherited central core disease and concurrent malignant hyperthermia caused by dominant missense variants in the RYR1 gene;Stem Cell Research;2024-06
3. Generation of two iPSC lines from adult central core disease patients with dominant missense variants in the RYR1 gene;Stem Cell Research;2024-06
4. Miopatías RYR1 en la infancia: correlación fenotipo-genotipo e incidencia;Revista de Neurología;2024
5. Recurrent malignant hyperthermia after scoliosis correction surgery;World Journal of Emergency Medicine;2024
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