Desmin splice variants causing cardiac and skeletal myopathy
Author:
Publisher
BMJ
Subject
Genetics(clinical),Genetics
Cited by 67 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. Desmin and its molecular chaperone, the αB-crystallin: How post-translational modifications modulate their functions in heart and skeletal muscles?;Biochimie;2024-01
2. Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy;International Journal of Molecular Sciences;2023-07-06
3. Phenotypic variability within the desminopathies: A case series of three patients;Frontiers in Neurology;2023-01-16
4. The Location of Disease-Causing DES Variants Determines the Severity of Phenotype and the Morphology of Sarcoplasmic Aggregates;Journal of Neuropathology & Experimental Neurology;2022-07-28
5. Genotype-Phenotype Associations with Restrictive Cardiomyopathy Induced by Pathogenic Genetic Mutations;Reviews in Cardiovascular Medicine;2022-05-25
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