VCP-related myopathy: a case series and a review of literature

por Iannibelli, Eliana, Gibertini, Sara, Cheli, Marta, Blasevich, Flavia, Cavaliere, Andrea, Riolo, Giorgia, Ruggieri, Alessandra, Maggi, Lorenzo
Publicado 2023

Zebrafish as a Model to Investigate Dynamin 2-Related Diseases

por Bragato, Cinzia, Gaudenzi, Germano, Blasevich, Flavia, Pavesi, Giulio, Maggi, Lorenzo, Giunta, Michele, Cotelli, Franco, Mora, Marina
Publicado 2016

Molecular Fingerprint of BMD Patients Lacking a Portion in the Rod Domain of Dystrophin

por Capitanio, Daniele, Moriggi, Manuela, Barbacini, Pietro, Torretta, Enrica, Moroni, Isabella, Blasevich, Flavia, Morandi, Lucia, Mora, Marina, Gelfi, Cecilia
Publicado 2022

Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy

por Ardissone, Anna, Bragato, Cinzia, Caffi, Lorella, Blasevich, Flavia, Maestrini, Sabrina, Bianchi, Maria Luisa, Morandi, Lucia, Moroni, Isabella, Mora, Marina
Publicado 2013

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

Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement

por Missaglia, Sara, Maggi, Lorenzo, Mora, Marina, Gibertini, Sara, Blasevich, Flavia, Agostoni, Piergiuseppe, Moro, Laura, Cassandrini, Denise, Santorelli, Filippo Maria, Gerevini, Simonetta, Tavian, Daniela
Publicado 2017

PLIN4-related myopathy: clinical, histological and imaging data in a large cohort of patients

por Maggi, Lorenzo, Gibertini, Sara, Iannibelli, Eliana, Gallone, Annamaria, Bonanno, Silvia, Cazzato, Daniele, Gerevini, Simonetta, Moscatelli, Marco, Blasevich, Flavia, Riolo, Giorgia, Mantegazza, Renato, Ruggieri, Alessandra
Publicado 2023

Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 gene

por Zanolini, Alice, Potic, Ana, Carrara, Franco, Lamantea, Eleonora, Diodato, Daria, Blasevich, Flavia, Marchet, Silvia, Mora, Marina, Pallotti, Francesco, Morandi, Lucia, Zeviani, Massimo, Lamperti, Costanza
Publicado 2016

Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease

por Ruggieri, Alessandra, Naumenko, Sergey, Smith, Martin A., Iannibelli, Eliana, Blasevich, Flavia, Bragato, Cinzia, Gibertini, Sara, Barton, Kirston, Vorgerd, Matthias, Marcus, Katrin, Wang, Peixiang, Maggi, Lorenzo, Mantegazza, Renato, Dowling, James J., Kley, Rudolf A., Mora, Marina, Minassian, Berge A.
Publicado 2020

Extracellular Vesicles Derived from Mesenchymal Stromal Cells Delivered during Hypothermic Oxygenated Machine Perfusion Repair Ischemic/Reperfusion Damage of Kidneys from Extended...

por Rampino, Teresa, Gregorini, Marilena, Germinario, Giuliana, Pattonieri, Eleonora Francesca, Erasmi, Fulvia, Grignano, Maria Antonietta, Bruno, Stefano, Alomari, Esra, Bettati, Stefano, Asti, Annalia, Ramus, Marina, De Amici, Mara, Testa, Giorgia, Bruno, Stefania, Ceccarelli, Gabriele, Serpieri, Nicoletta, Libetta, Carmelo, Sepe, Vincenzo, Blasevich, Flavia, Odaldi, Federica, Maroni, Lorenzo, Vasuri, Francesco, La Manna, Gaetano, Ravaioli, Matteo
Publicado 2022