X-linked myopathy with excessive autophagy: First report of an Israeli family presenting with late onset lower limb girdle weakness
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health
Reference22 articles.
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2. Autophagy in health and disease: a comprehensive review;Saha;Biomed Pharmacother,2018
3. Autophagic vacuolar myopathy;Nishino;Semin Pediatr Neurol,2006
4. A comprehensive review of autophagy and its various roles in infectious, non-infectious, and lifestyle diseases: current knowledge and prospects for disease prevention, Novel drug design, and therapy;Khandia;Cells,2019
5. X-linked myopathy with excessive autophagy: a clinicopathological study of five new families;Chabrol;Neuromuscul Disord,2001
Cited by 3 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. Identification of a Novel Intronic Mutation in VMA21 Associated with a Classical Form of X-Linked Myopathy with Autophagy;Global Medical Genetics;2024-05-10
2. Comprehensive genomic filtering algorithm to expose the cause of skewed X chromosome inactivation. The proof of concept in female haemophilia expression;Journal of Medical Genetics;2024-05-06
3. Phenotype variability and natural history of X-linked myopathy with excessive autophagy;Journal of Neurology;2024-03-22
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