DNAJB6 Myopathies: Focused Review on an Emerging and Expanding Group of Myopathies

por Ruggieri, Alessandra, Saredi, Simona, Zanotti, Simona, Pasanisi, Maria Barbara, Maggi, Lorenzo, Mora, Marina
Publicado 2016

Familial adult-onset Pompe disease associated with unusual clinical and histological features

por MAGGI, LORENZO, SALERNO, FRANCO, BRAGATO, CINZIA, SAREDI, SIMONA, BLASEVICH, FLAVIA, MACCAGNANO, ELIO, PASANISI, BARBARA, DANESINO, CESARE, MORA, MARINA, MORANDI, LUCIA
Publicado 2013

Long term follow-up and further molecular and histopathological studies in the LGMD1F sporadic TNPO3-mutated patient

por Gibertini, Sara, Ruggieri, Alessandra, Saredi, Simona, Salerno, Franco, Blasevich, Flavia, Napoli, Laura, Moggio, Maurizio, Nigro, Vincenzo, Morandi, Lucia, Maggi, Lorenzo, Mora, Marina
Publicado 2018

A Calsequestrin-1 Mutation Associated with a Skeletal Muscle Disease Alters Sarcoplasmic Ca(2+) Release

por D’Adamo, Maria Cristina, Sforna, Luigi, Visentin, Sergio, Grottesi, Alessandro, Servettini, llenio, Guglielmi, Luca, Macchioni, Lara, Saredi, Simona, Curcio, Maurizio, De Nuccio, Chiara, Hasan, Sonia, Corazzi, Lanfranco, Franciolini, Fabio, Mora, Marina, Catacuzzeno, Luigi, Pessia, Mauro
Publicado 2016

Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy

por Ruggieri, Alessandra, Brancati, Francesco, Zanotti, Simona, Maggi, Lorenzo, Pasanisi, Maria Barbara, Saredi, Simona, Terracciano, Chiara, Antozzi, Carlo, D′Apice, Maria Rosaria, Sangiuolo, Federica, Novelli, Giuseppe, Marshall, Christian R., Scherer, Stephen W., Morandi, Lucia, Federici, Luca, Massa, Roberto, Mora, Marina, Minassian, Berge A.
Publicado 2015