Broad variation in phenotypes for common GAA genotypes in Pompe disease von Niño, Monica Y., in't Groen, Stijn L. M., Faria, Douglas O. S., Hoogeveen‐Westerveld, Marianne, Hout, Hannerieke J. M. P., Ploeg, Ans T., Bergsma, Atze J., Pijnappel, W. W. M. Pim

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Coupling 3D Printing and Novel Replica Molding for In House Fabrication of Skeletal Muscle Tissue Engineering Devices von Iuliano, Alessandro, Wal, Erik, Ruijmbeek, Claudine W. B., in ‘t Groen, Stijn L. M., Pijnappel, W. W. M. Pim, Greef, Jessica C., Saggiomo, Vittorio

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From Cryptic Toward Canonical Pre-mRNA Splicing in Pompe Disease: a Pipeline for the Development of Antisense Oligonucleotides von Bergsma, Atze J, in ‘t Groen, Stijn LM, Verheijen, Frans W, van der Ploeg, Ans T, Pijnappel, WWM Pim

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A diagnostic approach for the unbiased identification of splice switching variants enables tailored antisense oligonucleotide-based correction von Bergsma, Atze J., in't Groen, Stijn L.M., van der Ploeg, Ans T., Pijnappel, Pim W.W.M.

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Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis von 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, Romero, Miguel-Angel Barba, 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

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

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Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity von Niño, Monica Y., in 't Groen, Stijn L.M., Bergsma, Atze J., Beek, Nadine A.M.E., Kroos, Marian, Hoogeveen‐Westerveld, Marianne, Ploeg, Ans T., Pijnappel, W.W.M. Pim

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

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

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

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

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

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

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

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