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

Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening

Source
The journal of pediatrics - ISSN 0022-3476-244 (2022) p. 139-147.e2
Author(s)
    Ni-Chung Lee, Kai-Ling Chang, Stijn in 't Groen, Douglas O.S. de Faria, Hsiang-Ju Huang, W.W.M. Pim Pijnappel, Wuh-Liang Hwu, Yin-Hsiu Chien

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

Update of the Pompe variant database for the prediction of clinical phenotypes : novel disease-associated variants, common sequence variants, and results from newborn screening

Source
Human mutation - ISSN 1059-7794-42:2 (2021) p. 119-134
Author(s)
    Douglas O.S. de Faria, Stijn in 't Groen, Marianne Hoogeveen-Westerveld, Monica Y. Nino, Ans T. van der Ploeg, Atze J. Bergsma, W.W.M. Pim Pijnappel