GMPPB‐CDG results in lysosomal dysfunction and acid alpha‐glucosidase deficiency
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Journal of inherited metabolic disease - ISSN 0141-8955-49:1 (2026) p. 1-14
Three-dimensional tissue engineered skeletal muscle modelling facioscapulohumeral muscular dystrophy
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Brain - ISSN 0006-8950-148:5 (2025) p. 1723-1739
A knock down strategy for rapid, generic, and versatile modelling of muscular dystrophies in 3D-tissue-engineered-skeletal muscle
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Skeletal muscle - ISSN 2044-5040-14:1 (2024) p. 1-14
Highly contractile 3D tissue engineered skeletal muscles from human iPSCs reveal similarities with primary myoblast-derived tissues
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Stem Cell Reports - ISSN 2213-6711-18:10 (2023) p. 1954-1971
Newborn screening for Pompe disease in Italy : Long-term results and future challenges
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Molecular Genetics and Metabolism Reports - ISSN 2214-4269-33 (2022) p.