A knock down strategy for rapid, generic, and versatile modelling of muscular dystrophies in 3D-tissue-engineered-skeletal muscle
Bron
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
Bron
Stem Cell Reports - ISSN 2213-6711-18:10 (2023) p. 1954-1971
Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening
Bron
The journal of pediatrics - ISSN 0022-3476-244 (2022) p. 139-147.e2
Newborn screening for Pompe disease in Italy : Long-term results and future challenges
Bron
Molecular Genetics and Metabolism Reports - ISSN 2214-4269-33 (2022) p.
Update of the Pompe variant database for the prediction of clinical phenotypes : novel disease-associated variants, common sequence variants, and results from newborn screening
Bron
Human mutation - ISSN 1059-7794-42:2 (2021) p. 119-134