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Bolduc, V., Foley, A., Donkervoort, S., Hu, Y., Cummings, B., Lek, M., Sarathy, A., Sizov, K., Degefa, H., Wagener, R., Hennig, G., Hanssen, E., Lamande, S., Muntoni, F., Wilton, S., MacArthur, D. and Bonnemann, C. (2017). A common dominant-negative COL6A1 pseudo-exon insertion is skippable using splice-modulating oligonucleotides. Neuromusc. Disord., 27. S. S177 - 1. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364
Neri, M., Scotton, C., Gualandi, F., Wirth, B., Schoels, L., Klockgether, T., Lochmuller, H., Muntoni, F., D'amico, A., Bertini, E., Pane, M., Mercuri, E. and Ferlini, A. (2017). Genetic landscapes in neuromuscular disorders: The influence of next-generation sequencing analysis. Eur. J. Neurol., 24. S. 500 - 501. HOBOKEN: WILEY. ISSN 1468-1331
Neri, M., Scotton, C., Gualandi, F., Wirth, B., Schols, L., Klockgether, T., Lochmuller, H., Muntoni, F., D'Amico, A., Bertini, E., Pane, M., Mercuri, E. and Ferlini, A. (2016). Genetic landscapes in neuromuscular disorders: The influence of next-generation sequencing analysis. Neuromusc. Disord., 26. S. S162 - 1. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364
Neri, M., Scotton, C., Selvatici, R., Gualandi, F., Wirth, B., Schols, L., Klockgether, T., Lochmuller, H., Muntoni, F., D'Amico, A., Bertini, E., Pane, M., Mercuri, E. and Ferlini, A. (2017). The success of whole exome sequencing analysis in neuromuscular diseases patients: the UNIFE experience within neuromics project. Neuromusc. Disord., 27. S. S194 - 1. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364
Turner, C., Brice, A., Bushby, K., Riess, O., Hanna, M., van Ommen, G., Muntoni, F., Klockgether, T., Wirth, B., Lochmueller, H., Timmerman, V., Schoells, L., Straub, V. and Tabrizi, S. (2015). NeurOmics: EU-funded-omics research for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases. Neuromusc. Disord., 25. S. S298 - 2. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364