Upper girdle imaging in facioscapulohumeral muscular dystrophy von Tasca, Giorgio, Monforte, Mauro, Iannaccone, Elisabetta, Laschena, Francesco, Ottaviani, Pierfrancesco, Leoncini, Emanuele, Boccia, Stefania, Galluzzi, Giuliana, Pelliccioni, Marco, Masciullo, Marcella, Frusciante, Roberto, Mercuri, Eugenio, Ricci, Enzo

Volltext

Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression von Pescatori, Mario, Broccolini, Aldobrando, Minetti, Carlo, Bertini, Enrico, Bruno, Claudio, D'amico, Adele, Bernardini, Camilla, Mirabella, Massimiliano, Silvestri, Gabriella, Giglio, Vincenzo, Modoni, Anna, Pedemonte, Marina, Tasca, Giorgio, Galluzzi, Giuliana, Mercuri, Eugenio, Tonali, Pietro A, Ricci, Enzo

Volltext

A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score von Lamperti, Costanza, Fabbri, Greta, Vercelli, Liliana, D'Amico, Roberto, Frusciante, Roberto, Bonifazi, Emanuela, Fiorillo, Chiara, Borsato, Carlo, Cao, Michelangelo, Servida, Maura, Greco, Francesca, Di Leo, Rita, Volpi, Leda, Manzoli, Claudia, Cudia, Paola, Pastorello, Ebe, Ricciardi, Leopoldo, Siciliano, Gabriele, Galluzzi, Giuliana, Rodolico, Carmelo, Santoro, Lucio, Tomelleri, Giuliano, Angelini, Corrado, Ricci, Enzo, Palmucci, Laura, Moggio, Maurizio, Tupler, Rossella

Volltext

Different Mutations in the LMNA Gene Cause Autosomal Dominant and Autosomal Recessive Emery-Dreifuss Muscular Dystrophy von Raffaele di Barletta, Marina, Ricci, Enzo, Galluzzi, Giuliana, Tonali, Pietro, Mora, Marina, Morandi, Lucia, Romorini, Alessandro, Voit, Thomas, Orstavik, Karen Helene, Merlini, Luciano, Trevisan, Carlo, Biancalana, Valerie, Housmanowa-Petrusewicz, Irena, Bione, Silvia, Ricotti, Roberta, Schwartz, Ketty, Bonne, Giselle, Toniolo, Daniela

Volltext

Chimeric snRNA Molecules Carrying Antisense Sequences against the Splice Junctions of Exon 51 of the Dystrophin pre-mRNA Induce Exon Skipping and Restoration of a Dystrophin Synthe... von De Angelis, Fernanda Gabriella, Sthandier, Olga, Berarducci, Barbara, Toso, Silvia, Galluzzi, Giuliana, Ricci, Enzo, Cossu, Giulio, Bozzoni, Irene

Volltext

Facioscapulohumeral Muscular Dystrophy: A Multicenter Study on Hearing Function von Trevisan, Carlo P., Pastorello, Ebe, Ermani, Mario, Angelini, Corrado, Tomelleri, Giuliano, Tonin, Paola, Mongini, Tiziana, Palmucci, Laura, Galluzzi, Giuliana, Tupler, Rossella G., Marioni, Gino, Rimini, Alessandro

Volltext

Facioscapulohumeral Muscular Dystrophy and Occurrence of Heart Arrhythmia von Trevisan, Carlo Pietro, Pastorello, Ebe, Armani, Mario, Angelini, Corrado, Nante, Giovanni, Tomelleri, Giuliano, Tonin, Paola, Mongini, Tiziana, Palmucci, Laura, Galluzzi, Giuliana, Tupler, Rossella G., Barchitta, Agata

Volltext

Estrogens enhance myoblast differentiation in facioscapulohumeral muscular dystrophy by antagonizing DUX4 activity von Teveroni, Emanuela, Pellegrino, Marsha, Sacconi, Sabrina, Calandra, Patrizia, Cascino, Isabella, Farioli-Vecchioli, Stefano, Puma, Angela, Garibaldi, Matteo, Morosetti, Roberta, Tasca, Giorgio, Ricci, Enzo, Trevisan, Carlo Pietro, Galluzzi, Giuliana, Pontecorvi, Alfredo, Crescenzi, Marco, Deidda, Giancarlo, Moretti, Fabiola

Volltext

The Facioscapulohumeral muscular dystrophy region on 4qter and the homologous locus on 10qter evolved independently under different evolutionary pressure von Rossi, Monica, Ricci, Enzo, Colantoni, Luca, Galluzzi, Giuliana, Frusciante, Roberto, Tonali, Pietro A, Felicetti, Luciano

Volltext

Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2 von Calandra, Patrizia, Cascino, Isabella, Lemmers, Richard J L F, Galluzzi, Giuliana, Teveroni, Emanuela, Monforte, Mauro, Tasca, Giorgio, Ricci, Enzo, Moretti, Fabiola, van der Maarel, Silvère M, Deidda, Giancarlo

Volltext

Large scale genotype―phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy von RICCI, Giulia, SCIONTI, Isabella, BERARDINELLI, Angela, ANGELINI, Corrado, ANTONINI, Giovanni, BUCCI, Elisabetta, CAO, Michelangelo, DAOLIO, Jessica, DI MUZIO, Antonio, DI LEO, Rita, GALLUZZI, Giuliana, IANNACCONE, Elisabetta, SERA, Francesco, MAGGI, Lorenzo, MARUOTTI, Valerio, MOGGIO, Maurizio, MONGINI, Tiziana, MORANDI, Lucia, NIKOLIC, Ana, PASTORELLO, Ebe, RICCI, Enzo, RODOLICO, Carmelo, SANTORO, Lucio, GOVI, Monica, SERVIDA, Maura, SICILIANO, Gabriele, TOMELLERI, Giuliano, TUPLER, Rossella, D'AMICO, Roberto, FRAMBOLLI, Ilaria, MELE, Fabiano, FILOSTO, Massimiliano, VERCELLI, Liliana, RUGGIERO, Lucia

Volltext

Large-Scale Population Analysis Challenges the Current Criteria for the Molecular Diagnosis of Fascioscapulohumeral Muscular Dystrophy von Scionti, Isabella, Greco, Francesca, Ricci, Giulia, Govi, Monica, Arashiro, Patricia, Vercelli, Liliana, Berardinelli, Angela, Angelini, Corrado, Antonini, Giovanni, Cao, Michelangelo, Di Muzio, Antonio, Moggio, Maurizio, Morandi, Lucia, Ricci, Enzo, Rodolico, Carmelo, Ruggiero, Lucia, Santoro, Lucio, Siciliano, Gabriele, Tomelleri, Giuliano, Trevisan, Carlo Pietro, Galluzzi, Giuliana, Wright, Woodring, Zatz, Mayana, Tupler, Rossella

Volltext

Chimeric snRNA molecules carrying antisense sequences against the splice junctions of exon 51 of the dystrophin pre-mRNA induce exon skipping and restoration of a dystrophin synthe... von De Angelis, Fernanda Gabriella, Sthandier, Olga, Berarducci, Barbara, Toso, Silvia, Galluzzi, Giuliana, Ricci, Enzo, Cossu, Giulio, Bozzoni, Irene

Volltext

Ultrasound tissue characterization detects preclinical myocardial structural changes in children affected by Duchenne muscular dystrophy von Giglio, Vincenzo, Pasceri, Vincenzo, Messano, Loredana, Mangiola, Fortunato, Pasquini, Luciano, Dello Russo, Antonio, Damiani, Antonello, Mirabella, Massimiliano, Galluzzi, Giuliana, Tonali, Pietro, Ricci, Enzo

Volltext

Sleep quality in Facioscapulohumeral muscular dystrophy von Della Marca, Giacomo, Frusciante, Roberto, Vollono, Catello, Dittoni, Serena, Galluzzi, Giuliana, Buccarella, Cristina, Modoni, Anna, Mazza, Salvatore, Tonali, Pietro Attilio, Ricci, Enzo

Volltext

Integrated Backscatter in Becker Muscular Dystrophy Patients With Functionally Normal Heart: Myocardial Ultrasound Tissue Characterization Study von Giglio, Vincenzo, Pasceri, Vincenzo, Messano, Loredana, Parisi, Quintino, Rinelli, Gabriele, Pasquini, Luciano, Dello Russo, Antonio, Broccolini, Aldo, Galluzzi, Giuliana, Pescatori, Mario, Mirabella, Massimiliano, Gidaro, Teresa, Mangiola, Fortunato, Ricci, Enzo

Volltext

Ultrasound tissue characterization detectspreclinical myocardial structural changes inchildren affected by Duchenne muscular dystrophy von Giglio, Vincenzo, Pasceri, Vincenzo, Messano, Loredana, Mangiola, Fortunato, Pasquini, Luciano, Dello Russo, Antonio, Damiani, Antonello, Mirabella, Massimiliano, Galluzzi, Giuliana, Tonali, Pietro, Ricci, Enzo

Volltext

Ultrasound tissue characterization detects preclinical myocardial structural changes in children affected by Duchenne muscular dystrophy. Commentary von GIGLIO, Vincenzo, PASCERI, Vincenzo, RICCI, Enzo, TOWBIN, Jeffrey A, MESSANO, Loredana, MANGIOLA, Fortunato, PASQUINI, Luciano, DELLO RUSSO, Antonio, DAMIANI, Antonello, MIRABELLA, Massimiliano, GALLUZZI, Giuliana, TONALI, Pietro

Volltext

The impact of the molecular data on clinical practice in facio-scapulohumeral muscular dystrophy (FSHD) von Ricci, Enzo, Merico, Barbara, Deidda, Giancarlo, Galluzzi, Giuliana, Silvestri, Gabriella, Cacurri, Stefania, Servidei, Screnella, Felicetti, Luciano, Tonali, Pietro

Volltext

Mechanism of the 4q35 rearrangement in facio-scapulo-humeral muscular dystrophy (FSHD): sequence homology of 4qter and 10qter loci favors the instability of subtelomeric KpnI repea... von Felicetti, Luciano, Deidda, Giancarlo, Ricci, Enzo, Galluzzi, Giuliana, Cacurri, Stefania, Merico, Barbara, Servidei, Serenella, Colantoni, Luca, Tonali, Pietro

Volltext