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

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Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe Disease by Erik van der Wal, Atze J. Bergsma, Joon M. Pijnenburg, Ans T. van der Ploeg, W.W.M. Pim Pijnappel

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A Generic Assay to Detect Aberrant ARSB Splicing and mRNA Degradation for the Molecular Diagnosis of MPS VI by Mike Broeders, Kasper Smits, Busra Goynuk, Esmee Oussoren, Hannerieke J.M.P. van den Hout, Atze J. Bergsma, Ans T. van der Ploeg, W.W.M. Pim Pijnappel

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GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells by Erik van der Wal, Atze J. Bergsma, Tom J.M. van Gestel, Stijn L.M. in ‘t Groen, Holm Zaehres, Marcos J. Araúzo-Bravo, Hans R. Schöler, Ans T. van der Ploeg, W.W.M. Pim Pijnappel

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A genetic modifier of symptom onset in Pompe diseaseResearch in context by Atze J. Bergsma, Stijn L.M. in 't Groen, Jan J.A. van den Dorpel, Hannerieke J.M.P. van den Hout, Nadine A.M.E. van der Beek, Benedikt Schoser, Antonio Toscano, Olimpia Musumeci, Bruno Bembi, Andrea Dardis, Amelia Morrone, Albina Tummolo, Elisabetta Pasquini, Ans T. van der Ploeg, W.W.M. Pim Pijnappel

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Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis by Stijn L.M. in ’t Groen, Douglas O.S. de Faria, Alessandro Iuliano, Johanna M.P. van den Hout, Hannie Douben, Trijnie Dijkhuizen, David Cassiman, Peter Witters, Miguel-Ángel Barba Romero, Annelies de Klein, Galhana M. Somers-Bolman, Jasper J. Saris, Lies H. Hoefsloot, Ans T. van der Ploeg, Atze J. Bergsma, W.W.M. Pim Pijnappel

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