Facioscapulohumeral dystrophy: the path to consensus on pathophysiology

por Tawil, Rabi, van der Maarel, Silvère M, Tapscott, Stephen J
Publicado 2014

Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy

por Greco, Anna, Goossens, Remko, van Engelen, Baziel, van der Maarel, Silvère M.
Publicado 2020

A functional assay to classify ZBTB24 missense variants of unknown significance

por Wu, Haoyu, Vonk, Kelly K. D., van der Maarel, Silvère M., Santen, Gijs W.E., Daxinger, Lucia
Publicado 2019

Adenine base editing of the DUX4 polyadenylation signal for targeted genetic therapy in facioscapulohumeral muscular dystrophy

por Šikrová, Darina, Cadar, Vlad A., Ariyurek, Yavuz, Laros, Jeroen F.J., Balog, Judit, van der Maarel, Silvère M.
Publicado 2021

A feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy

por Feng, Qing, Snider, Lauren, Jagannathan, Sujatha, Tawil, Rabi, van der Maarel, Silvère M, Tapscott, Stephen J, Bradley, Robert K
Publicado 2015

DUX4 promotes transcription of FRG2 by directly activating its promoter in facioscapulohumeral muscular dystrophy

por Thijssen, Peter E, Balog, Judit, Yao, Zizhen, Pham, Tan Phát, Tawil, Rabi, Tapscott, Stephen J, Van der Maarel, Silvère M
Publicado 2014

Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey study

por Peterlin, Borut, Gualandi, Francesca, Maver, Ales, Servidei, Serenella, van der Maarel, Silvère M., Lamy, Francoise, Mejat, Alexander, Evangelista, Teresinha, Ferlini, Alessandra
Publicado 2020

Differential myofiber-type transduction preference of adeno-associated virus serotypes 6 and 9

por Riaz, Muhammad, Raz, Yotam, Moloney, Elizabeth B., van Putten, Maaike, Krom, Yvonne D., van der Maarel, Silvere M., Verhaagen, Joost, Raz, Vered
Publicado 2015

SMCHD1 and LRIF1 converge at the FSHD-associated D4Z4 repeat and LRIF1 promoter yet display different modes of action

por Šikrová, Darina, Testa, Alessandra M., Willemsen, Iris, van den Heuvel, Anita, Tapscott, Stephen J., Daxinger, Lucia, Balog, Judit, van der Maarel, Silvère M.
Publicado 2023

Immunohistochemical Characterization of FacioscapulohumeralMuscular Dystrophy Muscle Biopsies

por Statland, Jeffrey M., Odrzywolski, Karen J., Shah, Bharati, Henderson, Don, Fricke, Alex F., van der Maarel, Silvére M., Tapscott, Stephen J., Tawil, Rabi
Publicado 2015

DUX4 induces a transcriptome more characteristic of a less-differentiated cell state and inhibits myogenesis

por Knopp, Paul, Krom, Yvonne D., Banerji, Christopher R. S., Panamarova, Maryna, Moyle, Louise A., den Hamer, Bianca, van der Maarel, Silvère M., Zammit, Peter S.
Publicado 2016

NuRD and CAF-1-mediated silencing of the D4Z4 array is modulated by DUX4-induced MBD3L proteins

por Campbell, Amy E, Shadle, Sean C, Jagannathan, Sujatha, Lim, Jong-Won, Resnick, Rebecca, Tawil, Rabi, van der Maarel, Silvère M, Tapscott, Stephen J
Publicado 2018

Dnmt3b regulates DUX4 expression in a tissue-dependent manner in transgenic D4Z4 mice

por Bouwman, Linde F., den Hamer, Bianca, Verveer, Elwin P., Lerink, Lente J. S., Krom, Yvonne D., van der Maarel, Silvère M., de Greef, Jessica C.
Publicado 2020

Interspecies Translation of Disease Networks Increases Robustness and Predictive Accuracy

por Anvar, Seyed Yahya, Tucker, Allan, Vinciotti, Veronica, Venema, Andrea, van Ommen, Gert-Jan B., van der Maarel, Silvere M., Raz, Vered, ‘t Hoen, Peter A. C.
Publicado 2011

Correction: Interspecies Translation of Disease Networks Increases Robustness and Predictive Accuracy

por Anvar, Seyed Yahya, Tucker, Allan, Vinciotti, Veronica, Venema, Andrea, van Ommen, Gert-Jan B., van der Maarel, Silvere M., Raz, Vered, ‘t Hoen, Peter A. C.
Publicado 2011

A genome-wide signature of glucocorticoid receptor binding in neuronal PC12 cells

por Polman, J Annelies E, Welten, Jennifer E, Bosch, Danny S, de Jonge, Robert T, Balog, Judit, van der Maarel, Silvère M, de Kloet, E Ronald, Datson, Nicole A
Publicado 2012

Therapeutic exon skipping for dysferlinopathies?

por Aartsma-Rus, Annemieke, Singh, Kavita H K, Fokkema, Ivo F A C, Ginjaar, Ieke B, van Ommen, Gert-Jan, Dunnen, Johan T den, van der Maarel, Silvère M
Publicado 2010

DUX4 Binding to Retroelements Creates Promoters That Are Active in FSHD Muscle and Testis

por Young, Janet M., Whiddon, Jennifer L., Yao, Zizhen, Kasinathan, Bhavatharini, Snider, Lauren, Geng, Linda N., Balog, Judit, Tawil, Rabi, van der Maarel, Silvère M., Tapscott, Stephen J.
Publicado 2013

DUX4-Induced Histone Variants H3.X and H3.Y Mark DUX4 Target Genes for Expression

por Resnick, Rebecca, Wong, Chao-Jen, Hamm, Danielle C., Bennett, Sean R., Skene, Peter J., Hake, Sandra B., Henikoff, Steven, van der Maarel, Silvère M., Tapscott, Stephen J.
Publicado 2019

Meeting report: the 2020 FSHD International Research Congress

por Kyba, Michael, Bloch, Robert J., Dumonceaux, Julie, Harper, Scott Q., van der Maarel, Silvère M., Sverdrup, Francis M., Wagner, Kathryn R., van Engelen, Baziel, Chen, Yi-Wen
Publicado 2020