Clinical features of facioscapulohumeral muscular dystrophy 2 von DE GREEF, J. C, LEMMERS, R. J. L. F, DESNUELLE, C, SPULER, S, TARNOPOLSKY, M, VENANCE, S. L, FRANTS, R. R, VAN DER MAAREL, S. M, TAWIL, R, CAMANO, P, DAY, J. W, SACCONI, S, DUNAND, M, VAN ENGELEN, B. G. M, KIURU-ENARI, S, PADBERG, G. W, ROSA, A. L

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Scapular dyskinesis in myotonic dystrophy type 1: clinical characteristics and genetic investigations von Voermans, N. C., van der Bilt, R. C., IJspeert, J., Hogrel, J. Y., Jeanpierre, M., Behin, A., Laforet, P., Stojkovic, T., van Engelen, B. G., Padberg, G. W., Sacconi, S., Lemmers, R. J. L. F., van der Maarel, S. M., Eymard, B., Bassez, G.

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Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4 von DEAK, K. L, LEMMERS, R. J. L. F, STAJICH, J. M, KLOOSTER, R, TAWIL, R, FRANTS, R. R, SPEER, M. C, VAN DER MAAREL, S. M, GILBERT, J. R

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FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients von Rijkers, T, Deidda, G, van Koningsbruggen, S, van Geel, M, Lemmers, R J L F, van Deutekom, J C T, Figlewicz, D, Hewitt, J E, Padberg, G W, Frants, R R, van der Maarel, S M

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D4F104S1 deletion in facioscapulohumeral muscular dystrophy: Phenotype, size, and detection von LEMMERS, R. J. L. F, OSBORN, M, HAAF, T, ROGERS, M, FRANTS, R. R, PADBERG, G. W, COOPER, D. N, VAN DER MAAREL, S. M, UPADHYAYA, M

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Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy von Lemmers, R.J.L.F., van der Wielen, M.J.R., Bakker, E., Frants, R.R., van der Maarel, S.M.

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De Novo Facioscapulohumeral Muscular Dystrophy: Frequent Somatic Mosaicism, Sex-Dependent Phenotype, and the Role of Mitotic Transchromosomal Repeat Interaction between Chromosomes... von van der Maarel, Silvère M., Deidda, Giancarlo, Lemmers, Richard J.L.F., van Overveld, Petra G.M., van der Wielen, Michiel, Hewitt, Jane E., Sandkuijl, Lodewijk, Bakker, Bert, van Ommen, Gert-Jan B., Padberg, George W., Frants, Rune R.

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Facioscapulohumeral muscular dystrophy. Phenotype-genotype correlation in patients with borderline D4Z4 repeat numbers von Butz, Miriam, Koch, Manuela C, Müller-Felber, Wolfgang, Lemmers, Richards J L F, van der Maarel, Silvère M, Schreiber, Herbert

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Evidence for Subtelomeric Exchange of 3.3 kb Tandemly Repeated Units between Chromosomes 4q35 and 10q26: Implications for Genetic Counselling and Etiology of FSHD1 von van Deutekom, Judith C. T., Bakker, Egbert, Lemmers, Richard J. L. F., van der Wielen, Michiel J. R., Bik, Elsa, Hofker, Marten H., Padberg, George W., Frants, Rune R.

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Inter-and Intrachromosomal Sub-Telomeric Rearrangements on 4q35: Implications for Facioscapulohumeral Muscular Dystrophy (FSHD) Aetiology and Diagnosis von Lemmers, Richard J. L. F., van der Maarel, Silvère M., van Deutekom, Judith C. T., van der Wielen, Michiel J. R., Deidda, Giancarlo, Dauwerse, Hans G., Hewitt, Jane, Hofker, Marten, Bakker, Egbert, Padberg, George W., Frants, Rune R.

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Identification of the First Gene (FRG1) from the FSHD Region on Human Chromosome 4q35 von van Deutekom, Judith C. T., Lemmers, Richard J. L. F., Grewal, Prabhjit K., van Geel, Michel, Romberg, Silke, Dauwerse, Hans G., Wright, Tracy J., Padberg, George W., Hofker, Marten H., Hewitt, Jane E., Frants, Rune R.

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A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD) von van der Maarel, Silvère M, Deidda, Giancarlo, Lemmers, Richard J L F, Bakker, Egbert, van der Wielen, Michiel J R, Sandkuijl, Lodewijk, Hewitt, Jane E, Padberg, George W, Frants, Rune R

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Facioscapulohumeral muscular dystrophy von Butz, Miriam, Koch, M. C., Muller-Felber, W., Lemmers, R. J. L. F., van der Maarel, S. M., Schreiber, H.

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Identification of a novel (beta)-tubulin subfamily with one member (TUBB4Q) located near the telomere of chromosome region 4q35 von M van Geel, J C T van Deutekom, A van Staalduinen, R J L F Lemmers

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Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy von 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

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The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1 von Sacconi, Sabrina, Lemmers, Richard J.L.F., Balog, Judit, van der Vliet, Patrick J., Lahaut, Pauline, van Nieuwenhuizen, Merlijn P., Straasheijm, Kirsten R., Debipersad, Rashmie D., Vos-Versteeg, Marianne, Salviati, Leonardo, Casarin, Alberto, Pegoraro, Elena, Tawil, Rabi, Bakker, Egbert, Tapscott, Stephen J., Desnuelle, Claude, van der Maarel, Silvère M.

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Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy von van den Boogaard, Marlinde L., Lemmers, Richard J.L.F., Balog, Judit, Wohlgemuth, Mariëlle, Auranen, Mari, Mitsuhashi, Satomi, van der Vliet, Patrick J., Straasheijm, Kirsten R., van den Akker, Rob F.P., Kriek, Marjolein, Laurense-Bik, Marlies E.Y., Raz, Vered, van Ostaijen-ten Dam, Monique M., Hansson, Kerstin B.M., van der Kooi, Elly L., Kiuru-Enari, Sari, Udd, Bjarne, van Tol, Maarten J.D., Nishino, Ichizo, Tawil, Rabi, Tapscott, Stephen J., van Engelen, Baziel G.M., van der Maarel, Silvère M.

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Specific Sequence Variations within the 4q35 Region Are Associated with Facioscapulohumeral Muscular Dystrophy von 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.

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Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines von Giardina, Emiliano, Camaño, Pilar, Burton‐Jones, Sarah, Ravenscroft, Gina, Henning, Franclo, Magdinier, Frederique, Stoep, Nienke, Vliet, Patrick J., Bernard, Rafaëlle, Tomaselli, Pedro J., Davis, Mark R., Nishino, Ichizo, Oflazer, Piraye, Race, Valerie, Vishnu, Venugopalan Y., Williams, Victoria, Sobreira, Cláudia F. R., Maarel, Silvere M., Moore, Steve A., Voermans, Nicol C., Lemmers, Richard J. L. F.

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Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD von de Greef, Jessica C, Lemmers, Richard J.L.F, van Engelen, Baziel G.M, Sacconi, Sabrina, Venance, Shannon L, Frants, Rune R, Tawil, Rabi, van der Maarel, Silvère M

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