A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease

gan Nicolaou, Paschalis, Cianchetti, Carlo, Minaidou, Anna, Marrosu, Giovanni, Zamba-Papanicolaou, Eleni, Middleton, Lefkos, Christodoulou, Kyproula
Cyhoeddwyd 2013

Overlapping syndromes in laminopathies: a meta-analysis of the reported literature

gan Carboni, Nicola, Politano, Luisa, Floris, Matteo, Mateddu, Anna, Solla, Elisabetta, Olla, Stefania, Maggi, Lorenzo, Antonietta Maioli, Maria, Piras, Rachele, Cocco, Eleonora, Marrosu, Giovanni, Giovanna Marrosu, Maria
Cyhoeddwyd 2013

Genotype-phenotype correlation in Pompe disease, a step forward

gan 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
Cyhoeddwyd yn Orphanet J Rare Dis (2014)