Population-based incidence and prevalence of facioscapulohumeral dystrophy
Deenen, Johanna C W, Arnts, Hisse, van der Maarel, Silvère M, Padberg, George W, Verschuuren, Jan J G M, Bakker, Egbert, Weinreich, Stephanie S, Verbeek, André L M, van Engelen, Baziel G M
Published in Neurology (16.09.2014)
Published in Neurology (16.09.2014)
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Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy
Lemmers, Richard J.L.F, van der Vliet, Patrick J, Klooster, Rinse, Sacconi, Sabrina, Camaño, Pilar, Dauwerse, Johannes G, Snider, Lauren, Straasheijm, Kirsten R, Jan van Ommen, Gert, Padberg, George W, Miller, Daniel G, Tapscott, Stephen J, Tawil, Rabi, Frants, Rune R, van der Maarel, Silvère M
Published in Science (American Association for the Advancement of Science) (24.09.2010)
Published in Science (American Association for the Advancement of Science) (24.09.2010)
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Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene
Lemmers, Richard J L F, van der Vliet, Patrick J, Blatnik, Ana, Balog, Judit, Zidar, Janez, Henderson, Don, Goselink, Rianne, Tapscott, Stephen J, Voermans, Nicol C, Tawil, Rabi, Padberg, George W A M, van Engelen, Baziel GM, van der Maarel, Silvère M
Published in Journal of medical genetics (01.02.2022)
Published in Journal of medical genetics (01.02.2022)
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Distinct disease phases in muscles of facioscapulohumeral dystrophy patients identified by MR detected fat infiltration
Janssen, Barbara H, Voet, Nicoline B M, Nabuurs, Christine I, Kan, Hermien E, de Rooy, Jacky W J, Geurts, Alexander C, Padberg, George W, van Engelen, Baziel G M, Heerschap, Arend
Published in PloS one (14.01.2014)
Published in PloS one (14.01.2014)
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Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD
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
Published in PLoS genetics (01.04.2013)
Published in PLoS genetics (01.04.2013)
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De novo mutations in PLXND1 and REV3L cause Möbius syndrome
Tomas-Roca, Laura, Tsaalbi-Shtylik, Anastasia, Jansen, Jacob G., Singh, Manvendra K., Epstein, Jonathan A., Altunoglu, Umut, Verzijl, Harriette, Soria, Laura, van Beusekom, Ellen, Roscioli, Tony, Iqbal, Zafar, Gilissen, Christian, Hoischen, Alexander, de Brouwer, Arjan P. M., Erasmus, Corrie, Schubert, Dirk, Brunner, Han, Pérez Aytés, Antonio, Marin, Faustino, Aroca, Pilar, Kayserili, Hülya, Carta, Arturo, de Wind, Niels, Padberg, George W., van Bokhoven, Hans
Published in Nature communications (12.06.2015)
Published in Nature communications (12.06.2015)
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What's in a name? The clinical features of facioscapulohumeral muscular dystrophy
Mul, Karlien, Lassche, Saskia, Voermans, Nicol C, Padberg, George W, Horlings, Corinne GC, van Engelen, Baziel GM
Published in Practical neurology (01.06.2016)
Published in Practical neurology (01.06.2016)
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Book Review
Specific Sequence Variations within the 4q35 Region Are Associated with Facioscapulohumeral Muscular Dystrophy
Lemmers, Richard J.L.F., Wohlgemuth, Mariëlle, van der Gaag, Kristiaan J., van der Vliet, Patrick J., van Teijlingen, Corrie M.M., de Knijff, Peter, Padberg, George W., Frants, Rune R., van der Maarel, Silvère M.
Published in American journal of human genetics (01.11.2007)
Published in American journal of human genetics (01.11.2007)
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Sarcomeric dysfunction contributes to muscle weakness in facioscapulohumeral muscular dystrophy
Lassche, Saskia, Stienen, Ger J M, Irving, Tom C, van der Maarel, Silvère M, Voermans, Nicol C, Padberg, George W, Granzier, Henk, van Engelen, Baziel G M, Ottenheijm, Coen A C
Published in Neurology (19.02.2013)
Published in Neurology (19.02.2013)
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Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy
Van Overveld, Petra G. M., Enthoven, Leo, Ricci, Enzo, Rossi, Monica, Felicetti, Luciano, Jeanpierre, Marc, Winokur, Sara T., Frants, Rune R., Padberg, George W., Van Der Maarel, Silvère M.
Published in Annals of neurology (01.10.2005)
Published in Annals of neurology (01.10.2005)
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Effect of aerobic exercise training and cognitive behavioural therapy on reduction of chronic fatigue in patients with facioscapulohumeral dystrophy: protocol of the FACTS-2-FSHD trial
Voet, Nicoline B M, Bleijenberg, Gijs, Padberg, George W, van Engelen, Baziel G M, Geurts, Alexander C H
Published in BMC neurology (30.06.2010)
Published in BMC neurology (30.06.2010)
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The spectrum of Möbius syndrome : an electrophysiological study
VERZIJL, Harriëtte T. F. M, PADBERG, George W, ZWARTS, Machiel J
Published in Brain (London, England : 1878) (01.07.2005)
Published in Brain (London, England : 1878) (01.07.2005)
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Adding quantitative muscle MRI to the FSHD clinical trial toolbox
Mul, Karlien, Vincenten, Sanne C C, Voermans, Nicol C, Lemmers, Richard J L F, van der Vliet, Patrick J, van der Maarel, Silvère M, Padberg, George W, Horlings, Corinne G C, van Engelen, Baziel G M
Published in Neurology (14.11.2017)
Published in Neurology (14.11.2017)
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Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2
Lemmers, Richard J L F, Goeman, Jelle J, van der Vliet, Patrick J, van Nieuwenhuizen, Merlijn P, Balog, Judit, Vos-Versteeg, Marianne, Camano, Pilar, Ramos Arroyo, Maria Antonia, Jerico, Ivonne, Rogers, Mark T, Miller, Daniel G, Upadhyaya, Meena, Verschuuren, Jan J G M, Lopez de Munain Arregui, Adolfo, van Engelen, Baziel G M, Padberg, George W, Sacconi, Sabrina, Tawil, Rabi, Tapscott, Stephen J, Bakker, Bert, van der Maarel, Silvère M
Published in Human molecular genetics (01.02.2015)
Published in Human molecular genetics (01.02.2015)
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The other face of facioscapulohumeral muscular dystrophy: Exploring orofacial weakness using muscle ultrasound
Vincenten, Sanne C. C., van Doorn, Jeroen L. M., Teeselink, Sjan, Rasing, Nathaniel B., Padberg, George W., Voermans, Nicol C., Engelen, Baziel G. M., van Alfen, Nens, Mul, Karlien
Published in Muscle & nerve (01.11.2024)
Published in Muscle & nerve (01.11.2024)
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A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1
Wohlgemuth, Mariëlle, Lemmers, Richard J, Jonker, Marianne, van der Kooi, Elly, Horlings, Corinne G, van Engelen, Baziel G, van der Maarel, Silvere M, Padberg, George W, Voermans, Nicol C
Published in Neurology (31.07.2018)
Published in Neurology (31.07.2018)
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PLEXIN‐D1, a novel plexin family member, is expressed in vascular endothelium and the central nervous system during mouse embryogenesis
Van Der Zwaag, Bert, Hellemons, Anita J.C.G.M., Leenders, William P.J., Burbach, J. Peter H., Brunner, Han G., Padberg, George W., Van Bokhoven, Hans
Published in Developmental dynamics (01.11.2002)
Published in Developmental dynamics (01.11.2002)
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