Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant

by Melchionda, Laura, Fang, Mingyan, Wang, Hairong, Fugnanesi, Valeria, Morbin, Michela, Liu, Xuanzhu, Li, Wenyan, Ceccherini, Isabella, Farina, Laura, Savoiardo, Mario, D’Adamo, Pio, Zhang, Jianguo, Costa, Alfredo, Ravaglia, Sabrina, Ghezzi, Daniele, Zeviani, Massimo
Published 2013

Genotype-phenotype correlation in Pompe disease, a step forward

by De Filippi, Paola, Saeidi, Kolsoum, Ravaglia, Sabrina, Dardis, Andrea, Angelini, Corrado, Mongini, Tiziana, Morandi, Lucia, Moggio, Maurizio, Di Muzio, Antonio, Filosto, Massimiliano, Bembi, Bruno, Giannini, Fabio, Marrosu, Giovanni, Rigoldi, Miriam, Tonin, Paola, Servidei, Serenella, Siciliano, Gabriele, Carlucci, Annalisa, Scotti, Claudia, Comelli, Mario, Toscano, Antonio, Danesino, Cesare
Published 2014

Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1–3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry

by Nikolic, Ana, Ricci, Giulia, Sera, Francesco, Bucci, Elisabetta, Govi, Monica, Mele, Fabiano, Rossi, Marta, Ruggiero, Lucia, Vercelli, Liliana, Ravaglia, Sabrina, Brisca, Giacomo, Fiorillo, Chiara, Villa, Luisa, Maggi, Lorenzo, Cao, Michelangelo, D'Amico, Maria Chiara, Siciliano, Gabriele, Antonini, Giovanni, Santoro, Lucio, Mongini, Tiziana, Moggio, Maurizio, Morandi, Lucia, Pegoraro, Elena, Angelini, Corrado, Di Muzio, Antonio, Rodolico, Carmelo, Tomelleri, Giuliano, Grazia D'Angelo, Maria, Bruno, Claudio, Berardinelli, Angela, Tupler, Rossella
Published 2016