Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2 von Lemmers, Richard J L F, Tawil, Rabi, Petek, Lisa M, Balog, Judit, Block, Gregory J, Santen, Gijs W E, Amell, Amanda M, van der Vliet, Patrick J, Almomani, Rowida, Straasheijm, Kirsten R, Krom, Yvonne D, Klooster, Rinse, Sun, Yu, den Dunnen, Johan T, Helmer, Quinta, Donlin-Smith, Colleen M, Padberg, George W, van Engelen, Baziel G M, de Greef, Jessica C, Aartsma-Rus, Annemieke M, Frants, Rune R, de Visser, Marianne, Desnuelle, Claude, Sacconi, Sabrina, Filippova, Galina N, Bakker, Bert, Bamshad, Michael J, Tapscott, Stephen J, Miller, Daniel G, van der Maarel, Silvère M

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Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD von Krom, Yvonne D, Thijssen, Peter E, Young, Janet M, den Hamer, Bianca, Balog, Judit, Yao, Zizhen, Maves, Lisa, Snider, Lauren, Knopp, Paul, Zammit, Peter S, Rijkers, Tonnie, van Engelen, Baziel G M, Padberg, George W, Frants, Rune R, Tawil, Rabi, Tapscott, Stephen J, van der Maarel, Silvère M

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PABPN1-Dependent mRNA Processing Induces Muscle Wasting von Riaz, Muhammad, Raz, Yotam, van Putten, Maaike, Paniagua-Soriano, Guillem, Krom, Yvonne D, Florea, Bogdan I, Raz, Vered

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

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T Cell Responses to Dystrophin in a Natural History Study of Duchenne Muscular Dystrophy von Anthony, Karen, Ala, Pierpaolo, Catapano, Francesco, Meng, Jinhong, Domingos, Joana, Perry, Mark, Ricotti, Valeria, Maresh, Kate, Phillips, Lauren C, Servais, Laurent, Seferian, Andreea M, De Lucia, Silvana, de Groot, Imelda, Krom, Yvonne D, Verschuuren, J G M, Niks, Erik H, Straub, Volker, Guglieri, Michela, Voit, Thomas, Morgan, Jennifer, Muntoni, Francesco

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SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease von Tapia del Fierro, Andres, den Hamer, Bianca, Benetti, Natalia, Jansz, Natasha, Chen, Kelan, Beck, Tamara, Vanyai, Hannah, Gurzau, Alexandra D., Daxinger, Lucia, Xue, Shifeng, Ly, Thanh Thao Nguyen, Wanigasuriya, Iromi, Iminitoff, Megan, Breslin, Kelsey, Oey, Harald, Krom, Yvonne D., van der Hoorn, Dinja, Bouwman, Linde F., Johanson, Timothy M., Ritchie, Matthew E., Gouil, Quentin A., Reversade, Bruno, Prin, Fabrice, Mohun, Timothy, van der Maarel, Silvère M., McGlinn, Edwina, Murphy, James M., Keniry, Andrew, de Greef, Jessica C., Blewitt, Marnie E.

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Occurrence of symptoms in different stages of Duchenne muscular dystrophy and their impact on social participation von Houwen‐van Opstal, Saskia L. S., Heutinck, Lotte, Jansen, Merel, Krom, Yvonne D., Cup, Edith H. C., Hendriksen, Jos G. M., Willemsen, Michel A. A. P., Verschuuren, Jan J. G. M., Niks, Erik H., Groot, Imelda J. M.

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Generation of Isogenic D4Z4 Contracted and Noncontracted Immortal Muscle Cell Clones from a Mosaic Patient: A Cellular Model for FSHD von KROM, Yvonne D, DUMONCEAUX, Julie, ENGELEN, Baziel G. M. Van, MOULY, Vincent, BUTLER-BROWNE, Gillian S, DER MAAREL, Silvère M. Van, MAMCHAOUI, Kamel, DEN HAMER, Bianca, MARIOT, Virginie, NEGRONI, Elisa, GENG, Linda N, MARTIN, Nicolas, TAWIL, Rabi, TAPSCOTT, Stephen J

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Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model von de Greef, Jessica C, Krom, Yvonne D, den Hamer, Bianca, Snider, Lauren, Hiramuki, Yosuke, van den Akker, Rob F P, Breslin, Kelsey, Pakusch, Miha, Salvatori, Daniela C F, Slütter, Bram, Tawil, Rabi, Blewitt, Marnie E, Tapscott, Stephen J, van der Maarel, Silvère M

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Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2 von Lemmers, Richard Jlf, van der Vliet, Patrick J, Balog, Judit, Goeman, Jelle J, Arindrarto, Wibowo, Krom, Yvonne D, Straasheijm, Kirsten R, Debipersad, Rashmie D, Özel, Gizem, Sowden, Janet, Snider, Lauren, Mul, Karlien, Sacconi, Sabrina, van Engelen, Baziel, Tapscott, Stephen J, Tawil, Rabi, van der Maarel, Silvère M

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

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The Dilemma of Choice for Duchenne Patients Eligible for Exon 51 Skipping The European Experience von Aartsma-Rus, Annemieke, De Waele, Liesbeth, Houwen-Opstal, Saskia, Kirschner, Janbernd, Krom, Yvonne D., Mercuri, Eugenio, Niks, Erik H., Straub, Volker, van Duyvenvoorde, Hermine A., Vroom, Elizabeth

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Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4 von Balog, Judit, Thijssen, Peter E., Shadle, Sean, Straasheijm, Kirsten R., van der Vliet, Patrick J., Krom, Yvonne D., van den Boogaard, Marlinde L., de Jong, Annika, F Lemmers, Richard J. L., Tawil, Rabi, Tapscott, Stephen J., van der Maarel, Silvère M.

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Downregulation of miRNA-29, -23 and -21 in urine of Duchenne muscular dystrophy patients von Catapano, Francesco, Domingos, Joana, Perry, Mark, Ricotti, Valeria, Phillips, Lauren, Servais, Laurent, Seferian, Andreea, Groot, Imelda de, Krom, Yvonne D, Niks, Erik H, Verschuuren, Jan JGM, Straub, Volker, Voit, Thomas, Morgan, Jennifer, Muntoni, Francesco

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Novel free-circulating and extracellular vesicle-derived miRNAs dysregulated in Duchenne muscular dystrophy von Catapano, Francesco, Scaglioni, Dominic, Maresh, Kate, Ala, Pierpaolo, Domingos, Joana, Selby, Victoria, Ricotti, Valeria, Phillips, Lauren, Servais, Laurent, Seferian, Andreea, Groot, Imelda de, Krom, Yvonne D, Voit, Thomas, Verschuuren, J J G M, Niks, E H, Straub, Volker, Morgan, Jennifer, Muntoni, Francesco

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Differential myofiber-type transduction preference of adeno-associated virus serotypes 6 and 9 von Riaz, Muhammad, Raz, Yotam, Moloney, Elizabeth B, van Putten, Maaike, Krom, Yvonne D, van der Maarel, Silvere M, Verhaagen, Joost, Raz, Vered

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Decision-Making And Selection Bias in Four Observational Studies on Duchenne and Becker Muscular Dystrophy von Naarding, Karin J., Doorenweerd, Nathalie, Koeks, Zaïda, Hendriksen, Ruben G.F., Chotkan, Kinita A., Krom, Yvonne D., de Groot, Imelda J.M., Straathof, Chiara S., Niks, Erik H., Kan, Hermien E.

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Compliance to DMD Care Considerations in the Netherlands von Heutinck, Lotte, Houwen-van Opstal, Saskia L.S., Krom, Yvonne D., Niks, Erik H., Verschuuren, Jan J.G.M., Jansen, Merel, de Groot, Imelda J.M.

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Generation of Isogenic D4Z4 Contracted and Noncontracted Immortal Muscle Cell Clones from a Mosaic Patient von Krom, Yvonne D, Dumonceaux, Julie, Mamchaoui, Kamel, den Hamer, Bianca, Mariot, Virginie, Negroni, Elisa, Geng, Linda N, Martin, Nicolas, Tawil, Rabi, Tapscott, Stephen J, van Engelen, Baziel G.M, Mouly, Vincent, Butler-Browne, Gillian S, van der Maarel, Silvère M

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Efficient in vivo knock-down of estrogen receptor alpha: application of recombinant adenovirus vectors for delivery of short hairpin RNA von Krom, Yvonne D, Fallaux, Frits J, Que, Ivo, Lowik, Clemens, van Dijk, Ko Willems

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