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2020
Delle Vedove, A., Zanni, G., Eckenweiler, M., Storbeck, M., Barresi, S., Pizzi, S., Hosseinibarkooie, S., Mendoza-Ferreira, N., Hoelker, I., Koerber, F., Kye, M., Bertini, E., Kirschner, J., Tartaglia, M. and Wirth, B. (2020). A recurrent de novo CAPRIN1 mutation causes a novel progressive early onset neurodegenerative disorder. Eur. J. Hum. Genet., 28 (SUPPL 1). S. 404 - 405. LONDON: SPRINGERNATURE. ISSN 1476-5438
2017
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., 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
2016
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