Telemedicine for neuromuscular disorders during the COVID-19 outbreak

Por Garibaldi, Matteo, Siciliano, Gabriele, Antonini, Giovanni
Publicado no J Neurol (2020)

Lipid Myopathies

Por Pennisi, Elena Maria, Garibaldi, Matteo, Antonini, Giovanni
Publicado no J Clin Med (2018)

Creatine Kinase and Progression Rate in Amyotrophic Lateral Sclerosis

Por Ceccanti, Marco, Pozzilli, Valeria, Cambieri, Chiara, Libonati, Laura, Onesti, Emanuela, Frasca, Vittorio, Fiorini, Ilenia, Petrucci, Antonio, Garibaldi, Matteo, Palma, Eleonora, Bendotti, Caterina, Fabbrizio, Paola, Trolese, Maria Chiara, Nardo, Giovanni, Inghilleri, Maurizio
Publicado no Cells (2020)

A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy

Por Cordero-Sanchez, Celia, Riva, Beatrice, Reano, Simone, Clemente, Nausicaa, Zaggia, Ivan, Ruffinatti, Federico A., Potenzieri, Alberto, Pirali, Tracey, Raffa, Salvatore, Sangaletti, Sabina, Colombo, Mario P., Bertoni, Alessandra, Garibaldi, Matteo, Filigheddu, Nicoletta, Genazzani, Armando A.
Publicado no Dis Model Mech (2019)

Estrogens enhance myoblast differentiation in facioscapulohumeral muscular dystrophy by antagonizing DUX4 activity

Por 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
Publicado no J Clin Invest (2017)

Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD

Por Garibaldi, Matteo, Fattori, Fabiana, Bortolotti, Carlo Augusto, Brochier, Guy, Labasse, Clemence, Verardo, Margherita, Servian-Morilla, Emilia, Gibellini, Lara, Pinti, Marcello, Di Rocco, Giulia, Raffa, Salvatore, Pennisi, Elena Maria, Bertini, Enrico Silvio, Paradas, Carmen, Romero, Norma Beatriz, Antonini, Giovanni
Publicado no Acta Neuropathol Commun (2018)

‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies

Por Garibaldi, Matteo, Rendu, John, Brocard, Julie, Lacene, Emmanuelle, Fauré, Julien, Brochier, Guy, Beuvin, Maud, Labasse, Clemence, Madelaine, Angeline, Malfatti, Edoardo, Bevilacqua, Jorge Alfredo, Lubieniecki, Fabiana, Monges, Soledad, Taratuto, Ana Lia, Laporte, Jocelyn, Marty, Isabelle, Antonini, Giovanni, Romero, Norma Beatriz
Publicado no Acta Neuropathol Commun (2019)

Muscle MRI in neutral lipid storage disease (NLSD)

Por Garibaldi, Matteo, Tasca, Giorgio, Diaz-Manera, Jordi, Ottaviani, Pierfancesco, Laschena, Francesco, Pantoli, Donatella, Gerevini, Simonetta, Fiorillo, Chiara, Maggi, Lorenzo, Tasca, Elisabetta, D’Amico, Adele, Musumeci, Olimpia, Toscano, Antonio, Bruno, Claudio, Massa, Roberto, Angelini, Corrado, Bertini, Enrico, Antonini, Giovanni, Pennisi, Elena Maria
Publicado no J Neurol (2017)

Erratum to: Muscle MRI in neutral lipid storage disease (NLSD)

Por Garibaldi, Matteo, Tasca, Giorgio, Diaz-Manera, Jordi, Ottaviani, Pierfancesco, Laschena, Francesco, Pantoli, Donatella, Gerevini, Simonetta, Fiorillo, Chiara, Maggi, Lorenzo, Tasca, Elisabetta, D’Amico, Adele, Musumeci, Olimpia, Toscano, Antonio, Bruno, Claudio, Massa, Roberto, Angelini, Corrado, Bertini, Enrico, Antonini, Giovanni, Pennisi, Elena Maria
Publicado no J Neurol (2017)

Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients

Por Pennisi, Elena Maria, Arca, Marcello, Bertini, Enrico, Bruno, Claudio, Cassandrini, Denise, D’amico, Adele, Garibaldi, Matteo, Gragnani, Francesca, Maggi, Lorenzo, Massa, Roberto, Missaglia, Sara, Morandi, Lucia, Musumeci, Olimpia, Pegoraro, Elena, Rastelli, Emanuele, Santorelli, Filippo Maria, Tasca, Elisabetta, Tavian, Daniela, Toscano, Antonio, Angelini, Corrado
Publicado no Orphanet J Rare Dis (2017)