New CACNA1A deletions are associated to migraine phenotypes von Grieco, G. S., Gagliardi, S., Ricca, I., Pansarasa, O., Neri, M., Gualandi, F., Nappi, G., Ferlini, A., Cereda, C.

Volltext

Autophagy induction in atrophic muscle cells requires ULK1 activation by TRIM32 through unanchored K63-linked polyubiquitin chains von Di Rienzo, M, Antonioli, M, Fusco, C, Liu, Y, Mari, M, Orhon, I, Refolo, G, Germani, F, Corazzari, M, Romagnoli, A, Ciccosanti, F, Mandriani, B, Pellico, M T, De La Torre, R, Ding, H, Dentice, M, Neri, M, Ferlini, A, Reggiori, F, Kulesz-Martin, M, Piacentini, M, Merla, G, Fimia, G M

Volltext

Survey on patients' organisations' knowledge and position paper on screening for inherited neuromuscular diseases in Europe von Lamy, F., Ferlini, A., Evangelista, Teresinha

Volltext

A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy von Goemans, Nathalie, Mercuri, Eugenio, Belousova, Elena, Komaki, Hirofumi, Dubrovsky, Alberto, McDonald, Craig M., Kraus, John E., Lourbakos, Afrodite, Lin, Zhengning, Campion, Giles, Wang, Susanne X., Campbell, Craig, Araujo, A., Bertini, E., Born, P., Cances, C., Chabrol, B., Chae, J.-H., Colomer Oferil, J., Comi, G.P., Cuisset, J.-M., D'Anjou, G., Desguerre, I., Erazo Torricelli, R., Escobar, R., Feder, D., Ferlini, A., Giugliani, R., Henricson, E., Herczegfalvi, A., Jong, Y.-J., Kimura, S., Kirschner, J.-B., Kleinsteuber, K., Kostera-Pruszczyk, A., Kudr, M., Mueller-Felber, W., Niks, E.H., Ogata, K., Palermo, C., Pane, M., Pascual, I., Pereon, Y., Raskin, S., Rasmussen, M., Reed, U., Schara, U., Selby, K., Sobreira, C., Takeshima, Y., Vilchez Padilla, J.J., Vita, G., Vondracek, P., Wiegand, G., Wilichowski, E.

Volltext

Mother and daughter with Kenny-Caffey syndrome: the adult phenotype von Tonelli, L., Sanchini, M., Margutti, A., Buldrini, B., Superti-Furga, A., Ferlini, A., Selvatici, R., Bigoni, S.

Volltext

Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients von De Gregori, M, Ciccone, R, Magini, P, Pramparo, T, Gimelli, S, Messa, J, Novara, F, Vetro, A, Rossi, E, Maraschio, P, Bonaglia, M C, Anichini, C, Ferrero, G B, Silengo, M, Fazzi, E, Zatterale, A, Fischetto, R, Previderé, C, Belli, S, Turci, A, Calabrese, G, Bernardi, F, Meneghelli, E, Riegel, M, Rocchi, M, Guerneri, S, Lalatta, F, Zelante, L, Romano, C, Fichera, M, Mattina, T, Arrigo, G, Zollino, M, Giglio, S, Lonardo, F, Bonfante, A, Ferlini, A, Cifuentes, F, Van Esch, H, Backx, L, Schinzel, A, Vermeesch, J R, Zuffardi, O

Volltext

Autosomal recessive myosclerosis myopathy is a collagen VI disorder von MERLINI, L, MARTONI, E, GRUMATI, P, SABATELLI, P, SQUARZONI, S, URCIUOLO, A, FERLINI, A, GUALANDI, F, BONALDO, P

Volltext

Rett syndrome: a wide clinical and autonomic picture von Pini, G, Bigoni, S, Congiu, L, Romanelli, A M, Scusa, M F, Di Marco, P, Benincasa, A, Morescalchi, P, Ferlini, A, Bianchi, F, Tropea, D, Zappella, M

Volltext

M.I.4 Discovering biomarkers for monitoring neuromuscular diseases: A turning point von Ferlini, A

Volltext

Best Practice Guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies von Abbs, Stephen, Tuffery-Giraud, Sylvie, Bakker, Egbert, Ferlini, Alessandra, Sejersen, Thomas, Mueller, Clemens R

Volltext

Predictors of cardiac arrhythmic events in non coronary artery disease patients von Balla, C, Vitali, F, Brieda, A, Gualandi, F, Ferlini, A, Bertini, M, Ferrari, R

Volltext

Corrigendum to: “Transcriptional and epigenetic analyses of the DMD locus reveal novel cis-acting DNA elements that govern muscle dystrophin expression”. [Biochim. Biophys. Acta Ge... von Gherardi, S., Bovolenta, M., Passarelli, C., Falzarano, M.S., Pigini, P., Scotton, C., Neri, M., Armaroli, A., Osman, H., Selvatici, R., Gualandi, F., Recchia, A., Mora, M., Bernasconi, P., Maggi, L., Morandi, L., Ferlini, A., Perini, G.

Volltext

Communicating the diagnosis of Klinefelter syndrome to children and adolescents: when, how, and who? von Aliberti, L., Gagliardi, I., Bigoni, S., Lupo, S., Caracciolo, S., Ferlini, A., Isidori, A. M., Zatelli, M. C., Ambrosio, M. R.

Volltext

The changing scenario of molecular genetic diagnostics for neuromuscular diseases von Ferlini, A.

Volltext

S09 - The changing scenario of molecular genetic diagnostics for neuromuscular diseases von Ferlini, A.

Volltext

Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies von 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., Sabatelli, P.

Volltext

Duchenne muscular dystrophy and epilepsy von Pane, M, Messina, S, Bruno, C, D’Amico, A, Villanova, M, Brancalion, B, Sivo, S, Bianco, F, Striano, P, Battaglia, D, Lettori, D, Vita, G.L, Bertini, E, Gualandi, F, Ricotti, V, Ferlini, A, Mercuri, E

Volltext

Biomarkers in Rare Diseases von Ferlini, A., Scotton, C., Novelli, G.

Volltext

S.P.39 BIO-NMD: An update on the discovery and validation of biomarkers for Neuromuscular Diseases (NMDs) – An EU funded FP7 project von Ferlini, A, Straub, V

Volltext

Autosomal recessive Bethlem myopathy von GUALANDI, F, URCIUOLO, A, BONALDO, P, MERLINI, L, MARTONI, E, SABATELLI, P, SQUARZONI, S, BOVOLENTA, M, MESSINA, S, MERCURI, E, FRANCHELLA, A, FERLINI, A

Volltext