Opportunities and challenges for antisense oligonucleotide therapies

por Kuijper, Elsa C., Bergsma, Atze J., Pijnappel, W.W.M. Pim, Aartsma‐Rus, Annemieke
Publicado 2020

An in vitro assay to quantify satellite cell activation using isolated mouse myofibers

por Canibano-Fraile, Rodrigo, Boertjes, Emma, Bozhilova, Stela, Pijnappel, W.W.M. Pim, Schaaf, Gerben J.
Publicado 2021

Sharpening the Molecular Scissors: Advances in Gene-Editing Technology

por Broeders, Mike, Herrero-Hernandez, Pablo, Ernst, Martijn P.T., van der Ploeg, Ans T., Pijnappel, W.W.M. Pim
Publicado 2019

Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe Disease

por van der Wal, Erik, Bergsma, Atze J., Pijnenburg, Joon M., van der Ploeg, Ans T., Pijnappel, W.W.M. Pim
Publicado 2017

Ready for Repair? Gene Editing Enters the Clinic for the Treatment of Human Disease

por Ernst, Martijn P.T., Broeders, Mike, Herrero-Hernandez, Pablo, Oussoren, Esmee, van der Ploeg, Ans T., Pijnappel, W.W.M. Pim
Publicado 2020

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

Interconversion between active and inactive TATA-binding protein transcription complexes in the mouse genome

por Choukrallah, Mohamed-Amin, Kobi, Dominique, Martianov, Igor, Pijnappel, W. W. M. Pim, Mischerikow, Nikolai, Ye, Tao, Heck, Albert J. R., Timmers, H. Th. Marc, Davidson, Irwin
Publicado 2012

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

A Generic Assay to Detect Aberrant ARSB Splicing and mRNA Degradation for the Molecular Diagnosis of MPS VI

por Broeders, Mike, Smits, Kasper, Goynuk, Busra, Oussoren, Esmee, van den Hout, Hannerieke J.M.P., Bergsma, Atze J., van der Ploeg, Ans T., Pijnappel, W.W.M. Pim
Publicado 2020

Tight cooperation between Mot1p and NC2β in regulating genome-wide transcription, repression of transcription following heat shock induction and genetic interaction with SAGA

por Spedale, Gianpiero, Meddens, Claartje A., Koster, Maria J. E., Ko, Cheuk W., van Hooff, Sander R., Holstege, Frank C. P., Timmers, H. Th. Marc, Pijnappel, W. W. M. Pim
Publicado 2012

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

IGF2-tagging of GAA promotes full correction of murine Pompe disease at a clinically relevant dosage of lentiviral gene therapy

por Liang, Qiushi, Catalano, Fabio, Vlaar, Eva C., Pijnenburg, Joon M., Stok, Merel, van Helsdingen, Yvette, Vulto, Arnold G., van der Ploeg, Ans T., van Til, Niek P., Pijnappel, W.W.M. Pim
Publicado 2022

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

Effects of immunomodulation in classic infantile Pompe patients with high antibody titers

por Poelman, E., Hoogeveen-Westerveld, M., van den Hout, J. M. P., Bredius, R. G. M., Lankester, A. C., Driessen, G. J. A., Kamphuis, S. S. M., Pijnappel, W. W. M., van der Ploeg, A. T.
Publicado 2019

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

Lentiviral gene therapy prevents anti-human acid α-glucosidase antibody formation in murine Pompe disease

por Liang, Qiushi, Vlaar, Eva C., Catalano, Fabio, Pijnenburg, Joon M., Stok, Merel, van Helsdingen, Yvette, Vulto, Arnold G., Unger, Wendy W.J., van der Ploeg, Ans T., Pijnappel, W.W.M. Pim, van Til, Niek P.
Publicado 2022

Effects of higher and more frequent dosing of alglucosidase alfa and immunomodulation on long‐term clinical outcome of classic infantile Pompe patients

por Poelman, Esther, van den Dorpel, Jan J. A., Hoogeveen‐Westerveld, Marianne, van den Hout, Johanna M. P., van der Giessen, Lianne J., van der Beek, Nadine A. M. E., Pijnappel, W. W. M. Pim, van der Ploeg, Ans T.
Publicado 2020

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