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Chamova, T., Gospodinova, M., Guergueltcheva, V., Krause, S., Cirak, S., Kaprelyan, A., Angelova, L., Mihaylova, V., Bichev, S., Chandler, D., Naydenov, E., Grudkova, M., Djukmedzhiev, P., Bogdanova, D., Kmetska, K., Voit, T., Pogoryelova, O., Lochmuller, H., Goebel, H., Bahlo, M., Kalaydjieva, L. and Tournev, I. (2016). GNE myopathy in Roma patients homozygous for the p.I618T founder mutation. Eur. J. Neurol., 23. S. 435 - 436. HOBOKEN: WILEY. ISSN 1468-1331
Hicks, D., Farsani, G. Torabi, Laval, S., Collins, J., Martoni, E., Shah, A., Zou, Y., Koch, M., Bonnemann, C., Lochmuller, H., Bushby, K., Roberts, M. and Straub, V. (2013). Collagen XII as a new disease gene for Bethlem-like myopathy. Neuromusc. Disord., 23 (9-10). S. 739 - 740. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 0960-8966
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