The D4Z4 Repeat–Mediated Pathogenesis of Facioscapulohumeral Muscular Dystrophy

Por van der Maarel, Silvère M., Frants, Rune R.
Publicado em 2005

Facioscapulohumeral Muscular Dystrophy and DUX4: Breaking the Silence

Por van der Maarel, Silvère M, Tawil, Rabi, Tapscott, Stephen J.
Publicado em 2011

Facioscapulohumeral dystrophy: the path to consensus on pathophysiology

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

Genetic and Epigenetic Contributors to FSHD

Por Daxinger, Lucia, Tapscott, Stephen J., van der Maarel, Silvère M.
Publicado no Curr Opin Genet Dev (2015)

Epigenetic Mechanisms of Facioscapulohumeral Muscular Dystrophy

Por de Greef, Jessica C., Frants, Rune R., van der Maarel, Silvère M.
Publicado em 2008

Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxation

Por van der Maarel, Silvère M., Miller, Daniel G., Tawil, Rabi, Filippova, Galina N., Tapscott, Stephen J.
Publicado em 2012

Reversible aggregation of PABPN1 pre-inclusion structures

Por Raz, Vered, Abraham, Tsion, van Zwet, Erik W, Dirks, Roeland W, Tanke, Hans J, van der Maarel, Silvère M
Publicado em 2011

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 no eLife (2015)

Contractions of D4Z4 on 4qB Subtelomeres Do Not Cause Facioscapulohumeral Muscular Dystrophy

Por Lemmers, Richard J. F. L., Wohlgemuth, Mariëlle, Frants, Rune R., Padberg, George W., Morava, Eva, van der Maarel, Silvère M.
Publicado em 2004

Immunodeficiency, Centromeric instability, Facial anomalies (ICF) syndrome, due to ZBTB24 mutations, presenting with large cerebral cyst

Por Cerbone, Manuela, Wang, Jun, Van der Maarel, Silvère M., d’Amico, Alessandra, d’Agostino, Antonio, Romano, Alfonso, Brunetti-Pierri, Nicola
Publicado em 2012

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 no Skelet Muscle (2014)

Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle

Por Huang, Yanchao, de Morrée, Antoine, van Remoortere, Alexandra, Bushby, Kate, Frants, Rune R., Dunnen, Johan Tden, van der Maarel, Silvère M.
Publicado em 2008

DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle

Por Yao, Zizhen, Snider, Lauren, Balog, Judit, Lemmers, Richard J.L.F., Van Der Maarel, Silvère M., Tawil, Rabi, Tapscott, Stephen J.
Publicado em 2014

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 no Skelet Muscle (2015)

Milder phenotype in facioscapulohumeral dystrophy with 7–10 residual D4Z4 repeats

Por Statland, Jeffrey M., Donlin-Smith, Colleen M., Tapscott, Stephen J., Lemmers, Richard J.L.F., van der Maarel, Silvère M., Tawil, Rabi
Publicado no Neurology (2015)

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 no J Neuromuscul Dis (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 no J Cell Sci (2016)

Therapeutic exon skipping for dysferlinopathies?

Por Aartsma-Rus, Annemieke, Singh, Kavita HK, Fokkema, Ivo FAC, Ginjaar, Ieke B, van Ommen, Gert-Jan, den Dunnen, Johan T, van der Maarel, Silvère M
Publicado em 2010

A Cascade of Complex Subtelomeric Duplications during the Evolution of the Hominoid and Old World Monkey Genomes

Por van Geel, Michel, Eichler, Evan E., Beck, Amy F., Shan, Zhihong, Haaf, Thomas, van der Maarel, Silvère M., Frants, Rune R., de Jong, Pieter J.
Publicado em 2002

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 em 2011