FKRP-dependent glycosylation of fibronectin regulates muscle pathology in muscular dystrophy von Wood, A. J., Lin, C. H., Li, M., Nishtala, K., Alaei, S., Rossello, F., Sonntag, C., Hersey, L., Miles, L. B., Krisp, C., Dudczig, S., Fulcher, A. J., Gibertini, S., Conroy, P. J., Siegel, A., Mora, M., Jusuf, P., Packer, N. H., Currie, P. D.

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Value of insoluble PABPN1 accumulation in the diagnosis of oculopharyngeal muscular dystrophy von Galimberti, V., Tironi, R., Lerario, A., Scali, M., Del Bo, R., Rodolico, C., Brizzi, T., Gibertini, S., Maggi, L., Mora, M., Toscano, A., Comi, G. P., Sciacco, M., Moggio, M., Peverelli, L.

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MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients von Fiorillo, C, Astrea, G, Savarese, M, Cassandrini, D, Brisca, G, Trucco, F, Pedemonte, M, Trovato, R, Ruggiero, L, Vercelli, L, D'Amico, A, Tasca, G, Pane, M, Fanin, M, Bello, L, Broda, P, Musumeci, O, Rodolico, C, Messina, S, Vita, G L, Sframeli, M, Gibertini, S, Morandi, L, Mora, M, Maggi, L, Petrucci, A, Massa, R, Grandis, M, Toscano, A, Pegoraro, E, Mercuri, E, Bertini, E, Mongini, T, Santoro, L, Nigro, V, Minetti, C, Santorelli, F M, Bruno, C

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Fibroblasts from the muscles of Duchenne muscular dystrophy patients are resistant to cell detachment apoptosis von Zanotti, S., Gibertini, S., Bragato, C., Mantegazza, R., Morandi, L., Mora, M.

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P.20.9 Muscle fibrosis in the sgcb-null mouse model versus the mdx model von Gibertini, S, Zanotti, S, Curcio, M, Savadori, P, Mora, M

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A fourth case of POMT2-related limb girdle muscle dystrophy with mild reduction of α-dystroglycan glycosylation von Saredi, S, Gibertini, S, Ardissone, A, Fusco, I, Zanotti, S, Blasevich, F, Morandi, L, Moroni, I, Mora, M

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P20.4 Antithetic role of miR-21 and miR-29 in the progression of fibrosis in Duchenne muscular dystrophy von Zanotti, S, Gibertini, S, Savadori, P, Curcio, M, Mantegazza, R, Morandi, L, Mora, M

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590P Genetic heterogeneity in PLIN4 gene: characterization of a new pathogenic expansion causing an autophagic vacuolar myopathy von Carnazzi, A., Iannibelli, E., Gibertini, S., De Gaetano, L. Nicolini, Riolo, G., Salerno, F., Čopič, A., Maggi, L., Ruggieri, A.

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EM.P.3.04 Muscle-derived Duchenne muscular dystrophy fibroblasts show altered production of extra-cellular matrix components von Zanotti, S, Gibertini, S, Saredi, S, Blasevich, F, Mantegazza, R, Morandi, L, Mora, M

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VP.67 A novel adult-onset vacuolar myopathy caused by a large expansion of the PLIN4 gene- clinical, histological and imaging data von Maggi, L., Gibertini, S., Iannibelli, E., Gallone, A., Bragato, C., Bonanno, S., Blasevich, F., Mantegazza, R., Mora, M., Ruggieri, A.

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580P SYNE-1 and SYNE-2 mutations: expanding the phenotype and genotype spectrum of Nesprin myopathy von Cheli, M., Marchetto, G., Gibertini, S., Bruno, C., Filosto, M., Lattanzi, G., Fiorillo, C., Grandis, M., Malandrini, A., Maioli, M., Mandich, P., Massa, R., Matà, S., Melani, F., Maggi, L., Rubegni, A., Santorelli, F., Tonin, P., Cassandrini, D., Vattemi, G.

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60P Evaluation of aggrephagy markers in genetically defined myofibrillar myopathies von Iannibelli, E., Gibertini, S., Maruotti, A., Salerno, F., Cheli, M., Vattemi, G., Tonin, P., Tasca, G., Bortolani, S., Pegoraro, E., Previtali, S., Garibaldi, M., Merlonghi, G., Filosto, M., Carnazzi, A., De Gaetano, L. Nicolini, Riolo, G., Ruggieri, A., Maggi, L.

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The transcriptome of cell cultures derived from muscle biopsies of controls and spastic patients is affected by botulinum toxin type A von Mora, Marina, Zanotti, Simona, Kapetis, Dimos, Gibertini, Sara, Salerno, Franco, Ciusani, Emilio, Morandi, Lucia, Mantegazza, Renato, Molteni, Franco

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P.245 - Potential role of exosomes in skeletal muscle fibrosis von Zanotti, S., Gibertini, S., Blasevich, F., Saredi, S., Bragato, C., Ruggieri, A., Mantegazza, R., Maggi, L., Mora, M.

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Potential role of exosomes in skeletal muscle fibrosis von Zanotti, S., Gibertini, S., Blasevich, F., Saredi, S., Bragato, C., Ruggieri, A., Mantegazza, R., Maggi, L., Mora, M.

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Cancer-associated Mutations in Congenital Pulmonary Malformations: A Prospective Cohort von Garinet, Simon, Rahshenas, Makan, Galmiche-Rolland, Louise, Abbo, Olivier, Bonnard, Arnaud, Hameury, Frédéric, Khen-Dunlop, Naziha, Khoshnood, Babak, Blons, Hélène, Delacourt, Christophe

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Predicting the risk of respiratory distress in newborns with congenital pulmonary malformations von Delacourt, Christophe, Bertille, Nathalie, Salomon, Laurent J, Rahshenas, Makan, Benachi, Alexandra, Bonnard, Arnaud, Choupeaux, Laure, Fouquet, Virginie, Goua, Valérie, Hameury, Frédéric, Hervieux, Erik, Jouannic, Jean-Marie, Khen-Dunlop, Naziha, Le Bouar, Gwenaelle, Massardier, Jérôme, Roditis, Léa, Rosenblatt, Jonathan, Sartor, Agnès, Thong-Vanh, Catherine, Lelong, Nathalie, Khoshnood, Babak

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Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases von Filocamo, Mirella, Baldo, Chiara, Goldwurm, Stefano, Renieri, Alessandra, Angelini, Corrado, Moggio, Maurizio, Mora, Marina, Merla, Giuseppe, Politano, Luisa, Garavaglia, Barbara, Casareto, Lorena, Bricarelli, Francesca Dagna

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The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study von Neri, M, Rossi, R, Trabanelli, C, Mauro, A, Selvatici, R, Falzarano, MS, Spedicato, N, Margutti, A, Rimessi, P, Fortunato, F, Fabris, M, Gualandi, F, Comi, G, Tedeschi, S, Seia, M, Fiorillo, C, Traverso, M, Bruno, C, Giardina, E, Piemontese, MR, Merla, G, Cau, M, Marica, M, Scuderi, C, Borgione, E, Tessa, A, Astrea, G, Santorelli, FM, Merlini, L, Mora, M, Bernasconi, P, Gibertini, S, Sansone, V, Mongini, T, Berardinelli, A, Pini, A, Liguori, R, Filosto, M, Messina, S, Vita, G, Toscano, A, Pane, M, Servidei, S, Pegoraro, E, Bello, L, Travaglini, L, Bertini, E, D'Amico, A, Ergoli, M, Politano, L, Torella, A, Nigro, V, Mercuri, E, Ferlini, A

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MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients von Fiorillo, C, Astrea, G, Savarese, M, Cassandrini, D, Brisca, G, Trucco, F, Pedemonte, M, Trovato, R, Ruggiero, L, Vercelli, L, D'Amico, A, Tasca, G, Pane, M, Fanin, M, Bello, L, Broda, P, Musumeci, O, Rodolico, C, Messina, S, Vita, GL, Sframeli, M, Gibertini, S, Morandi, L, Mora, M, Maggi, L, Petrucci, A, Massa, R, Grandis, M, Toscano, A, Pegoraro, E, Mercuri, E, Bertini, E, Mongini, T, Santoro, L, Nigro, V, Minetti, C, Santorelli, FM, Bruno, C, Italian Network on Congenital Myopathies

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