A generic assay for the identification of splicing variants that induce nonsense-mediated decay in Pompe disease

por Bergsma, Atze J., in ’t Groen, Stijn L. M., Catalano, Fabio, Yamanaka, Manjiro, Takahashi, Satoru, Okumiya, Toshika, van der Ploeg, Ans T., Pijnappel, W. W. M. Pim
Publicado 2020

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

por de Faria, Douglas O. S., in ‘t Groen, Stijn L. M., Hoogeveen‐Westerveld, Marianne, Niño, Monica Y., van der Ploeg, Ans T., Bergsma, Atze J., Pijnappel, W. W. M. Pim
Publicado 2020

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

por Gragnaniello, Vincenza, Pijnappel, Pim W.W.M., Burlina, Alessandro P., In 't Groen, Stijn L.M., Gueraldi, Daniela, Cazzorla, Chiara, Maines, Evelina, Polo, Giulia, Salviati, Leonardo, Di Salvo, Giovanni, Burlina, Alberto B.
Publicado 2022

Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity

por Niño, Monica Y., in 't Groen, Stijn L.M., Bergsma, Atze J., van der Beek, Nadine A.M.E., Kroos, Marian, Hoogeveen‐Westerveld, Marianne, van der Ploeg, Ans T., Pijnappel, W.W.M. Pim
Publicado 2019

Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease

por Schaaf, Gerben J., van Gestel, Tom J. M., in ‘t Groen, Stijn L. M., de Jong, Bart, Boomaars, Björn, Tarallo, Antonietta, Cardone, Monica, Parenti, Giancarlo, van der Ploeg, Ans T., Pijnappel, W. W. M. Pim
Publicado 2018

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

por van der Wal, Erik, Iuliano, Alessandro, in ’t Groen, Stijn L.M., Bholasing, Anjali P., Priesmann, Dominik, Sharma, Preeti, den Hamer, Bianca, Saggiomo, Vittorio, Krüger, Marcus, Pijnappel, W.W.M. Pim, de Greef, Jessica C.
Publicado 2023

GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells

por van der Wal, Erik, Bergsma, Atze J., van Gestel, Tom J.M., in ‘t Groen, Stijn L.M., Zaehres, Holm, Araúzo-Bravo, Marcos J., Schöler, Hans R., van der Ploeg, Ans T., Pijnappel, W.W.M. Pim
Publicado 2017

Broad variation in phenotypes for common GAA genotypes in Pompe disease

por Niño, Monica Y., in't Groen, Stijn L. M., de Faria, Douglas O. S., Hoogeveen‐Westerveld, Marianne, van den Hout, Hannerieke J. M. P., van der Ploeg, Ans T., Bergsma, Atze J., Pijnappel, W. W. M. Pim
Publicado 2021

Large-Scale Expansion of Human iPSC-Derived Skeletal Muscle Cells for Disease Modeling and Cell-Based Therapeutic Strategies

por van der Wal, Erik, Herrero-Hernandez, Pablo, Wan, Raymond, Broeders, Mike, in 't Groen, Stijn L.M., van Gestel, Tom J.M., van IJcken, Wilfred F.J., Cheung, Tom H., van der Ploeg, Ans T., Schaaf, Gerben J., Pijnappel, W.W.M. Pim
Publicado 2018

The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease

por Kuperus, Esther, van der Meijden, Jan C., in ’t Groen, Stijn L. M., Kroos, Marian A., Hoogeveen-Westerveld, Marianne, Rizopoulos, Dimitris, Martinez, Monica Yasmin Nino, Kruijshaar, Michelle E., van Doorn, Pieter A., van der Beek, Nadine A. M. E., van der Ploeg, Ans T., Pijnappel, W. W. M. Pim
Publicado 2018

A genetic modifier of symptom onset in Pompe disease

por Bergsma, Atze J., in 't Groen, Stijn L.M., van den Dorpel, Jan J.A., van den Hout, Hannerieke J.M.P., van der Beek, Nadine A.M.E., Schoser, Benedikt, Toscano, Antonio, Musumeci, Olimpia, Bembi, Bruno, Dardis, Andrea, Morrone, Amelia, Tummolo, Albina, Pasquini, Elisabetta, van der Ploeg, Ans T., Pijnappel, W.W.M. Pim
Publicado 2019

Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis

por in ’t Groen, Stijn L.M., de Faria, Douglas O.S., Iuliano, Alessandro, van den Hout, Johanna M.P., Douben, Hannie, Dijkhuizen, Trijnie, Cassiman, David, Witters, Peter, Barba Romero, Miguel-Ángel, de Klein, Annelies, Somers-Bolman, Galhana M., Saris, Jasper J., Hoefsloot, Lies H., van der Ploeg, Ans T., Bergsma, Atze J., Pijnappel, W.W.M. Pim
Publicado 2020

Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays

por Labrijn-Marks, Ineke, Somers-Bolman, Galhana M., In ’t Groen, Stijn L. M., Hoogeveen-Westerveld, Marianne, Kroos, Marian A., Ala-Mello, Sirpa, Amaral, Olga, Miranda, Clara sa, Mavridou, Irene, Michelakakis, Helen, Naess, Karin, Verheijen, Frans W., Hoefsloot, Lies H., Dijkhuizen, Trijnie, Benjamins, Marloes, van den Hout, Hannerieke J. M., van der Ploeg, Ans T., Pijnappel, W. W. M. Pim, Saris, Jasper J., Halley, Dicky J.
Publicado 2019