 | Up a level |
Journal Article
Gualandi, F., Italyankina, E., Storbeck, M., Vezyroglou, K., Heller, R., Scotton, C., Di Raimo, F., Mauro, A., Tugnoli, V, Timmerman, V, Wirth, B., De Grandis, D. and Ferlini, A. (2016). CLINICAL NEXT GENERATION SEQUENCING GENE PANEL IDENTIFIED A NOVEL ATP7A MUTATION IN TWO BROTHERS WITH DISTAL HEREDITARY MOTOR NEUROPATHY AND AUTONOMIC DYSFUNCTION. J. Peripher. Nerv. Syst., 21 (3). S. 262 - 263. HOBOKEN: WILEY-BLACKWELL. ISSN 1529-8027
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
Neri, M., Selvatici, R., Scotton, C., Storbeck, M., Vezyroglou, K., Heller, R., Tugnoli, V., Bigoni, S., Timmerman, V., Wirth, B., De, D., Gualandi, F. and Ferlini, A. (2017). Clinical gene panel in UNIFE patients orphans of genetic diagnosis. Neuromusc. Disord., 27. S. S195 - 1. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364
Sabatelli, P., Martoni, E., Gara, S. K., Squarzoni, S., Zamparelli, A., Paulsson, M., Wagener, R., Gualandi, F., Pellegrini, C., Merlini, L., Ferlini, A. and Maraldi, N. M. (2011). Collagen VI alpha5 and alpha6 chains expression in human muscle. Neuromusc. Disord., 21 (9-10). S. 662 - 664. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 0960-8966
Scotton, C., Italyankina, E., Storbeck, M., Vezyroglou, K., Heller, R., Neri, M., Di Raimo, F., Mauro, A., Tugnoli, V., Timmerman, V., Wirth, B., De Grandis, D., Gualandi, F. and Ferlini, A. (2015). Next generation sequencing identifies a novel ATP7A mutation in two brothers with distal hereditary motor neuropathy and autonomic dysfunction. Neuromusc. Disord., 25. S. S224 - 2. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 1873-2364
Tagliavini, F., Pellegrini, C., Sardone, F., Squarzoni, S., Paulsson, M., Wagener, R., Gualandi, F., Trabanelli, C., Ferlini, A., Merlini, L., Santi, S., Maraldi, N. M., Faldini, C. and Sabatelli, P. (2014). Defective collagen VI alpha 6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies. Biochim. Biophys. Acta-Mol. Basis Dis., 1842 (9). S. 1604 - 1613. AMSTERDAM: ELSEVIER SCIENCE BV. ISSN 1879-260X