Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant
Article in Journal of Medical Genetics (May 2023)
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Cell surface glycan engineering reveals that matriglycan alone can recapitulate dystroglycan binding and function
Article in Nature Communications (June 2022)
Large1 gene transfer in older myd mice with severe muscular dystrophy restores muscle function and greatly improves survival
Article in Science Advances (May 2022)