Sharpening the Molecular Scissors: Advances in Gene-Editing Technology by Mike Broeders, Pablo Herrero-Hernandez, Martijn P.T. Ernst, Ans T. van der Ploeg, W.W.M. Pim Pijnappel

Get full text

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

Get full text

A knock down strategy for rapid, generic, and versatile modelling of muscular dystrophies in 3D-tissue-engineered-skeletal muscle by Stijn L. M. in ‘t Groen, Marnix Franken, Theresa Bock, Marcus Krüger, Jessica C. de Greef, W. W. M. Pim Pijnappel

Get full text

Ready for Repair? Gene Editing Enters the Clinic for the Treatment of Human Disease by Martijn P.T. Ernst, Mike Broeders, Pablo Herrero-Hernandez, Esmee Oussoren, Ans T. van der Ploeg, W.W.M. Pim Pijnappel

Get full text

IGF2-tagging of GAA promotes full correction of murine Pompe disease at a clinically relevant dosage of lentiviral gene therapy by Qiushi Liang, Fabio Catalano, Eva C. Vlaar, Joon M. Pijnenburg, Merel Stok, Yvette van Helsdingen, Arnold G. Vulto, Ans T. van der Ploeg, Niek P. van Til, W.W.M. Pim Pijnappel

Get full text

Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease by Gerben J. Schaaf, Tom J. M. van Gestel, Stijn L. M. in ‘t Groen, Bart de Jong, Björn Boomaars, Antonietta Tarallo, Monica Cardone, Giancarlo Parenti, Ans T. van der Ploeg, W. W. M. Pim Pijnappel

Get full text

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

Get full text

Lentiviral gene therapy prevents anti-human acid α-glucosidase antibody formation in murine Pompe disease by Qiushi Liang, Eva C. Vlaar, Fabio Catalano, Joon M. Pijnenburg, Merel Stok, Yvette van Helsdingen, Arnold G. Vulto, Wendy W.J. Unger, Ans T. van der Ploeg, W.W.M. Pim Pijnappel, Niek P. van Til

Get full text

Antibodies against recombinant human alpha-glucosidase do not seem to affect clinical outcome in childhood onset Pompe disease by Harmke A. van Kooten, Imke A. M. Ditters, Marianne Hoogeveen-Westerveld, Edwin H. Jacobs, Johanna M. P. van den Hout, Pieter A. van Doorn, W. W. M. Pim Pijnappel, Ans T. van der Ploeg, Nadine A. M. E. van der Beek

Get full text

Epigenetic Characterization of the FMR1 Promoter in Induced Pluripotent Stem Cells from Human Fibroblasts Carrying an Unmethylated Full Mutation by Celine E.F. de Esch, Mehrnaz Ghazvini, Friedemann Loos, Nune Schelling-Kazaryan, W. Widagdo, Shashini T. Munshi, Erik van der Wal, Hannie Douben, Nilhan Gunhanlar, Steven A. Kushner, W.W.M. Pim Pijnappel, Femke M.S. de Vrij, Niels Geijsen, Joost Gribnau, Rob Willemsen

Get full text

Generation of genomic-integration-free human induced pluripotent stem cells and the derived cardiomyocytes of X-linked dilated cardiomyopathy from DMD gene mutation by Sheng Zhu, Anna Hing Yee Law, Ruixia Deng, Ellen Ngar Yun Poon, Chun Wai Lo, Anna Ka Yee Kwong, Rui Liang, Kelvin Yuen Kwong Chan, Wai Lap Wong, Kian Cheng Tan-Un, W.W.M. Pim Pijnappel, Godfrey Chi Fung Chan, Sophelia Hoi Shan Chan

Get full text

Tagged IDS causes efficient and engraftment-independent prevention of brain pathology during lentiviral gene therapy for Mucopolysaccharidosis type II by Fabio Catalano, Eva C. Vlaar, Drosos Katsavelis, Zina Dammou, Tessa F. Huizer, Jeroen C. van den Bosch, Marianne Hoogeveen-Westerveld, Hannerieke J.M.P. van den Hout, Esmeralda Oussoren, George J.G. Ruijter, Gerben Schaaf, Karin Pike-Overzet, Frank J.T. Staal, Ans T. van der Ploeg, W.W.M. Pim Pijnappel

Get full text

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

Get full text

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

Get full text