Respiratory function in facioscapulohumeral muscular dystrophy 1 by Wohlgemuth, M, Horlings, C.G.C, van der Kooi, E.L, Gilhuis, H.J, Hendriks, J.C.M, van der Maarel, S.M, van Engelen, B.G.M, Heijdra, Y.F, Padberg, G.W

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Expanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2 by van den Boogaard, M.L., Thijssen, P.E., Aytekin, C., Licciardi, F., Kıykım, A.A., Spossito, L., Dalm, V.A.S.H., Driessen, G.J., Kersseboom, R., de Vries, F., van Ostaijen‐ten Dam, M.M., Ikinciogullari, A., Dogu, F., Oleastro, M., Bailardo, E., Daxinger, L., Nain, E., Baris, S., van Tol, M.J.D., Weemaes, C., van der Maarel, S.M.

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Transmigration of beta amyloid specific heavy chain antibody fragments across the in vitro blood–brain barrier by Rutgers, K.S, Nabuurs, R.J.A, van den Berg, S.A.A, Schenk, G.J, Rotman, M, Verrips, C.T, van Duinen, S.G, Maat-Schieman, M.L, van Buchem, M.A, de Boer, A.G, van der Maarel, S.M

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G.I.1 New advances in facioscapulohumeral dystrophy by van der Maarel, S.M

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Clinical trial preparedness in facioscapulohumeral dystrophy: Outcome measures and patient access by Tawil, R, Shaw, D.W, van der Maarel, S.M, Tapscott, S.J

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D.I.1 Genetic and epigenetic studies of FSHD by van der Maarel, S.M

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G.P.108 Sarcomeric dysfunction contributes to muscle weakness in facioscapulohumeral muscular dystrophy by Lassche, S, Stienen, G.J.M, Irving, T.C, van der Maarel, S.M, Padberg, G.W, Granzier, H, Ottenheijm, C.A.C, van Engelen, B.G.M

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T.P.21 Exon skipping for dysferlinopathies by Aartsma-Rus, A, Verwey, N, Schneiderat, P, van der Maarel, S.M, van Ommen, G.J.B, Houweling-Gazzoli, I

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P2.39 Testing for correlations between clinical parameters and epigenetic modifications in FSHD1 and FSHD2 by Balog, J, de Greef, J.C, Thijssen, P.E, Tawil, R, van der Maarel, S.M

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P2.44 Accelerated skeletal muscle ageing is a molecular signature in OPMD by Venema, A, Anvar, S.A, t’ Hoen, P.A.C, van der Sluijs, B, van Engelen, B, van der Maarel, S.M, Raz, V

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O.20 A mouse model that recapitulates features of facioscapulohumeral muscular dystrophy by Krom, Y.D, den Hamer, B, Snider, L, Knopp, P, Zammit, P.S, Tapscott, S.J, van der Maarel, S.M

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O.19 Facioscapulohumeral muscular dystrophy: Muscle running out of control by Lemmers, R.J.L, van der Vliet, P.J, Sacconi, S, Camano, P, Snider, L, Geng, L, van Ommen, G.J, Padberg, G.W, Miller, D.G, Tapscott, S.J, Frants, R.R, van der Maarel, S.M

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P5.18 Human anti-MuSK IgG4 autoantibodies cause myasthenia gravis in immunodeficient mice by Klooster, R, Plomp, J.J, Straasheijm, K.R, Huijbers, M.G, Niks, E.H, Detmers, F.J, Hermans, P.W, Sleijpen, K, Losen, M, de Baets, M.H, van der Maarel, S.M, Verschuuren, J.J

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G.O.2 A primary sequence motif underlying calpain 3 substrate cleavage by de Morrée, A, Hulsik, D. Lutje, Impagliazzo, A, van Haagen, H.H.B, de Galan, P, van Remoortere, A, t Hoen, P.A.C, Frants, R.R, van der Maarel, S.M

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1st FSHD European Trial Network workshop:Working towards trial readiness across Europe by Voermans, N.C., Vriens-Munoz Bravo, M., Padberg, G.W., Laforêt, P., van Alfen, N., Attarian, S., Badrising, U.A., Bugiardini, E., González, P. Camano, Carlier, R.Y., Desguerre, I., Diaz-Manera, J., Dumonceaux, J., van Engelen, B.G., Evangelista, T., Khosla, S., de Munain, A. López, van der Maarel, S.M., Mejat, A., Monforte, M., Montagnese, F., Mul, K., Oflazer, P., Porter, B., Quijano-Roy, S., Ricci, E., Sacconi, S., Sansone, V.A., Schoser, B., Statland, J., Stumpe, E., Tasca, G., Tawil, R., Turner, C., Vissing, J.

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Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element by Gabriëls, J, Beckers, M.-C, Ding, H, De Vriese, A, Plaisance, S, van der Maarel, S.M, Padberg, G.W, Frants, R.R, Hewitt, J.E, Collen, D, Belayew, A

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Mild Muscular Features in Tenascin-X Knockout Mice, A Model of Ehlers-Danlos Syndrome by Voermans, N. C., Verrijp, K., Eshuis, L., Balemans, M. C. M., Egging, D., Sterrenburg, E., van Rooij, I. A. L. M., van der Laak, J. A. W. M., Schalkwijk, J., M van der Maarel, S., Lammens, M., van Engelen, B. G.

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P.I.1 Molecular basis of facioscapulohumeral muscular dystrophy by van der Maarel, S.M.

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ICF syndrome: High variability of the chromosomal phenotype and association with classical Hodgkin lymphoma by Schuetz, C., Barbi, G., Barth, T.F.E., Hoenig, M., Schulz, A., Möeller, P., Smeets, D., de Greef, J.C., van der Maarel, S.M., Vogel, W., Debatin, K.‐M., Friedrich, W.

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G.O.3 Contraction-dependent (FSHD1) and independent (FSHD2) epigenetic changes of D4Z4 unify FSHD by de Greef, J.C., Lemmers, R.J.L., van Engelen, B.G.M., Sacconi, S., Venance, S.L., Frants, R.R., Tawil, R., van der Maarel, S.M.

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