Principles of translational gene therapy for neuromuscular diseases von Schoser, B

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“Orbiting around” the orbital myositis: clinical features, differential diagnosis and therapy von Montagnese, F., Wenninger, S., Schoser, B.

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Self-diagnosis of a triple trouble von Schoser, B.

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Dyslexia and cognitive impairment in adult patients with myotonic dystrophy type 1: a clinical prospective analysis von Gutschmidt, K., Wenninger, S., Montagnese, F., Schoser, B.

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Sleep-related symptoms and sleep-disordered breathing in adult Pompe disease von Boentert, M., Karabul, N., Wenninger, S., Stubbe-Dräger, B., Mengel, E., Schoser, B., Young, P.

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European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10‐year experience von Ploeg, A. T., Kruijshaar, M. E., Toscano, A., Laforêt, P., Angelini, C., Lachmann, R. H., Pascual Pascual, S. I., Roberts, M., Rösler, K., Stulnig, T., Doorn, P. A., Van den Bergh, P. Y. K., Vissing, J., Schoser, B., Bembi, Bruno, Broomfield, Alexander, Boentert, Matthias, Desnuelle, Claude, Findling, Oliver, Hahn, Andreas, Díaz‐Manera, Jordi, Hundsberger, Thomas, Kornblum, Cornelia, Labarthé, Franҫois, Laforet, Pascal, Mengel, Karl‐Eugen, Mongini, Tiziana, Muller‐Felber, Wolfgang, Parenti, Giancarlo, Pijnappel, W. Pim, Preisler, Nicolai, Sacconi, Sabrina, Talim, Beril, Tardieu, Marine, Beek, Nadine A.M.E, Wenninger, Stephan

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Improving outcome measures in late onset Pompe disease: Modified Rasch‐Built Pompe‐Specific Activity scale von Kooten, Harmke A., Horton, Mike C., Wenninger, Stephan, Babačić, Haris, Schoser, Benedikt, Lefeuvre, Claire, Taouagh, Najib, Laforêt, Pascal, Segovia, Sonia, Díaz‐Manera, Jordi, Claeys, Kristl G., Mongini, Tiziana, Musumeci, Olimpia, Toscano, Antonio, Hundsberger, Thomas, Brusse, Esther, Doorn, Pieter A., Ploeg, Ans T., Beek, Nadine A. M. E., Kooten, H. A, Brusse, E., Doorn, P. A, Ploeg, A. T., Beek, N. A. M. E., Wenninger, S., Babačić, H., Schoser, B., Montagnese, F., Gracia Angarita, N., Lefeuvre, C., Taouagh, N., Laforêt, P., Béhin, A., Tard, C., Campana‐Salort, E., Sacconi, S., Solé, G., Spinazzi, M., Bouhour, F., Bouibede, F., Hamroun, D., Hogrel, J. Y., Segovia, S., Díaz‐Manera, J., Claeys, K.G., Mongini, T., Musumeci, O., Toscano, A., Hundsberger, T., Horton, M. C.

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Innovative therapeutic approaches for hereditary neuromuscular diseases von Kirschner, J, Schoser, B

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EP 40. Gynecomastia – A sign of a neuromuscular disease? von Widmann, E, Scheßl, J, Schoser, B

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Coenzyme Q10 deficiency and isolated myopathy von HORVATH, R, SCHNEIDERAT, P, LOCHMÜLLER, H, SCHOSER, B. G. H, GEMPEL, K, NEUEN-JACOB, E, PLÖGER, H, MÜLLER-HÖCKER, J, PONGRATZ, D. E, NAINI, A, DIMAURO, S

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Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited von Schoser, B. G. H., Müller-Höcker, J., Horvath, R., Gempel, K., Pongratz, D., Lochmüller, H., Müller-Felber, W.

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A zebrafish model for FHL1-opathy reveals loss-of-function effects of human FHL1 mutations von Keßler, M., Kieltsch, A., Kayvanpour, E., Katus, H.A., Schoser, B., Schessl, J., Just, S., Rottbauer, W.

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An integrative correlation of myopathology, phenotype and genotype in late onset Pompe disease von Kulessa, M., Weyer‐Menkhoff, I., Viergutz, L., Kornblum, C., Claeys, K. G., Schneider, I., Plöckinger, U., Young, P., Boentert, M., Vielhaber, S., Mawrin, C., Bergmann, M., Weis, J., Ziagaki, A., Stenzel, W., Deschauer, M., Nolte, D., Hahn, A., Schoser, B., Schänzer, A.

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Falls and resulting fractures in Myotonic Dystrophy: Results from a multinational retrospective survey von Jiménez-Moreno, A.C., Raaphorst, J., Babačić, H., Wood, L., van Engelen, B., Lochmüller, H., Schoser, B., Wenninger, S.

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Glycogen storage diseases of all types von Hoffmann, Georg F., Smit, P. A., Schoser, B.

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Sudden cardiac death in myotonic dystrophy type 2 von SCHOSER, B. G. H, RICKER, K, SCHNEIDER-GOLD, C, HENGSTENBERG, C, DÜRRE, J, BÜLTMANN, B, KRESS, W, DAY, J. W, RANUM, L. P. W

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1st FSHD European Trial Network workshop:Working towards trial readiness across Europe von 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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Muscle ultrasound in classic infantile and adult Pompe disease: A useful screening tool in adults but not in infants von Vill, K, Schessl, J, Teusch, V, Schroeder, S, Blaschek, A, Schoser, B, Müller-Felber, W

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Clinical improvement of DM1 patients reflected by reversal of disease-induced gene expression in blood von van Cruchten, Remco T. P., van As, Daniël, Glennon, Jeffrey C., van Engelen, Baziel G. M., ‘t Hoen, Peter A. C., Okkersen, K, Jimenez-Moreno, C, Wenninger, S, Daidj, F, Cumming, S, Littleford, R, Monckton, D G, Lochmüller, H, Catt, M, Faber, C G, Hapca, A, Donnan, P T, Gorman, G, Bassez, G, Schoser, B, Knoop, H, Treweek, S, Wansink, Derick G., Impens, Francis, Gabriels, Ralf, Claeys, Tine, Ravel-Chapuis, Aymeric, Jasmin, Bernard J., Mahon, Niamh, Nieuwenhuis, Sylvia, Martens, Lennart, Novak, Petr, Furling, Denis, Baak, Arie, Gourdon, Genevieve, MacKenzie, Alex, Martinat, Cecile, Neault, Nafisa, Roos, Andreas, Duchesne, Elise, Salz, Renee, Thompson, Rachel, Baghdoyan, Sandrine, Varghese, Anu Mary, Blom, Paul, Spendiff, Sally, Manta, Alexander

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The frequency and severity of cardiac involvement in myotonic dystrophy type 2 (DM2): Long-term outcomes von Sansone, V.A, Brigonzi, E, Schoser, B, Villani, S, Gaeta, M, De Ambroggi, G, Bandera, F, De Ambroggi, L, Meola, G

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