GMPPB‐CDG results in lysosomal dysfunction and acid alpha‐glucosidase deficiency

Source
Journal of inherited metabolic disease - ISSN 0141-8955-49:1 (2026) p. 1-14
Author(s)
    Carla Damiano, Antonietta Tarallo, Vincenza Gragnaniello, Sandra Strollo, Simona Fecarotta, M. Rosaria Tuzzi, Elena Polishchuk, Sandro Montefusco, Anna Valanzano, Antonia Assunto, Nadia Minopoli, Roberto Della Casa, Roman Polishchuk, Stijn in 't Groen, Diego Luis Medina, Enrico Bertini, Rosalba Carrozzo, Julia Emmerich, Benedikt Schoser, W.W.M. Pim Pijnappel, Giancarlo Parenti

Three-dimensional tissue engineered skeletal muscle modelling facioscapulohumeral muscular dystrophy

Source
Brain - ISSN 0006-8950-148:5 (2025) p. 1723-1739
Author(s)
    Marnix Franken, Erik van der Wal, Dongxu Zheng, Bianca den Hamer, Patrick J. van der Vliet, Richard J.L.F Lemmers, Anita van den Heuvel, Alexandra L. Dorn, Cas G.A. Duivenvoorden, Stijn in 't Groen, Christian Freund, Bert Eussen, Rabi Tawil, Baziel G.M. van Engelen, Pim W.W.M.P Pijnappel, Silvère M. van der Maarel, Jessica C. de Greef

A knock down strategy for rapid, generic, and versatile modelling of muscular dystrophies in 3D-tissue-engineered-skeletal muscle

Source
Skeletal muscle - ISSN 2044-5040-14:1 (2024) p. 1-14
Author(s)
    Stijn in 't Groen, Marnix Franken, Theresa Bock, Marcus Krüger, Jessica C. de Greef, W.W.M. Pim Pijnappel

Highly contractile 3D tissue engineered skeletal muscles from human iPSCs reveal similarities with primary myoblast-derived tissues

Source
Stem Cell Reports - ISSN 2213-6711-18:10 (2023) p. 1954-1971
Author(s)
    Erik van der Wal, Alessandro Iuliano, Stijn in 't Groen, Anjali P. Bholasing, Dominik Priesmann, Preeti Sharma, Bianca den Hamer, Vittorio Saggiomo, Marcus Kruger, W.W.M. Pim Pijnappel, Jessica C. de Greef

Newborn screening for Pompe disease in Italy : Long-term results and future challenges

Source
Molecular Genetics and Metabolism Reports - ISSN 2214-4269-33 (2022) p.
Author(s)
    Vincenza Gragnaniello, Pim W.W.M. Pijnappel, Alessandro P. Burlina, Stijn in 't Groen, Daniela Gueraldi, Chiara Cazzorla, Evelina Maines, Giulia Polo, Leonardo Salviati, Giovanni Di Salvo, Alberto B. Burlina