Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health
Cited by 76 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. Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India;Neurogenetics;2024-08-05
2. Genetic architecture of white striping in turkeys (Meleagris gallopavo);Scientific Reports;2024-04-18
3. The recurrent deep intronic pseudoexon-inducing variantCOL6A1c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy;2024-03-29
4. Modeling Human Muscular Dystrophies in Zebrafish: Mutant Lines, Transgenic Fluorescent Biosensors, and Phenotyping Assays;International Journal of Molecular Sciences;2023-05-05
5. Bethlem Myopathy (Collagen VI-Related Dystrophies): A Retrospective Cohort Study on Musculoskeletal Pathologies and Clinical Course;Journal of Pediatric Orthopaedics;2022-10-26
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