Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations

by Cacciottolo, Mafalda, Numitone, Gelsomina, Aurino, Stefania, Caserta, Imma Rosaria, Fanin, Marina, Politano, Luisa, Minetti, Carlo, Ricci, Enzo, Piluso, Giulio, Angelini, Corrado, Nigro, Vincenzo
Published 2011

White matter involvement in a family with a novel PDGFB mutation

by Biancheri, Roberta, Severino, Mariasavina, Robbiano, Angela, Iacomino, Michele, Del Sette, Massimo, Minetti, Carlo, Cervasio, Mariarosaria, Del Basso De Caro, Marialaura, Striano, Pasquale, Zara, Federico
Published 2016

Hyccin, the Molecule Mutated in the Leukodystrophy Hypomyelination and Congenital Cataract (HCC), Is a Neuronal Protein

by Gazzerro, Elisabetta, Baldassari, Simona, Giacomini, Caterina, Musante, Veronica, Fruscione, Floriana, La Padula, Veronica, Biancheri, Roberta, Scarfì, Sonia, Prada, Valeria, Sotgia, Federica, Duncan, Ian D., Zara, Federico, Werner, Hauke B., Lisanti, Michael P., Nobbio, Lucilla, Corradi, Anna, Minetti, Carlo
Published 2012

Novel GABRG2 mutations cause familial febrile seizures

by Boillot, Morgane, Morin-Brureau, Mélanie, Picard, Fabienne, Weckhuysen, Sarah, Lambrecq, Virginie, Minetti, Carlo, Striano, Pasquale, Zara, Federico, Iacomino, Michele, Ishida, Saeko, An-Gourfinkel, Isabelle, Daniau, Mailys, Hardies, Katia, Baulac, Michel, Dulac, Olivier, Leguern, Eric, Nabbout, Rima, Baulac, Stéphanie
Published 2015

The leukodystrophy protein FAM126A/Hyccin regulates PI4P synthesis at the plasma membrane

by Baskin, Jeremy M., Wu, Xudong, Christiano, Romain, Oh, Michael S., Schauder, Curtis M., Gazzerro, Elisabetta, Messa, Mirko, Baldassari, Simona, Assereto, Stefania, Biancheri, Roberta, Zara, Federico, Minetti, Carlo, Raimondi, Andrea, Simons, Mikael, Walther, Tobias C., Reinisch, Karin M., De Camilli, Pietro
Published 2015

Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study

by Messina, Sonia, Vita, Gian Luca, Sframeli, Maria, Mondello, Stefania, Mazzone, Elena, D'Amico, Adele, Berardinelli, Angela, La Rosa, Matteo, Bruno, Claudio, Distefano, Maria Grazia, Baranello, Giovanni, Barcellona, Costanza, Scutifero, Marianna, Marcato, Sonia, Palmieri, Arianna, Politano, Luisa, Morandi, Lucia, Mongini, Tiziana, Pegoraro, Elena, D'Angelo, Maria Grazia, Pane, Marika, Rodolico, Carmelo, Minetti, Carlo, Bertini, Enrico, Vita, Giuseppe, Mercuri, Eugenio
Published 2016

Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers

by Savarese, Marco, Musumeci, Olimpia, Giugliano, Teresa, Rubegni, Anna, Fiorillo, Chiara, Fattori, Fabiana, Torella, Annalaura, Battini, Roberta, Rodolico, Carmelo, Pugliese, Aniello, Piluso, Giulio, Maggi, Lorenzo, D'Amico, Adele, Bruno, Claudio, Bertini, Enrico, Santorelli, Filippo Maria, Mora, Marina, Toscano, Antonio, Minetti, Carlo, Nigro, Vincenzo
Published 2016

Validation of a score tool for measurement of histological severity in juvenile dermatomyositis and association with clinical severity of disease

by Varsani, Hemlata, Charman, Susan C, Li, Charles K, Marie, Suely K N, Amato, Anthony A, Banwell, Brenda, Bove, Kevin E, Corse, Andrea M, Emslie-Smith, Alison M, Jacques, Thomas S, Lundberg, Ingrid E, Minetti, Carlo, Nennesmo, Inger, Rushing, Elisabeth J, Sallum, Adriana M E, Sewry, Caroline, Pilkington, Clarissa A, Holton, Janice L, Wedderburn, Lucy R
Published 2015

Inter-society consensus document on treatment and prevention of bronchiolitis in newborns and infants

by Baraldi, Eugenio, Lanari, Marcello, Manzoni, Paolo, Rossi, Giovanni A, Vandini, Silvia, Rimini, Alessandro, Romagnoli, Costantino, Colonna, Pierluigi, Biondi, Andrea, Biban, Paolo, Chiamenti, Giampietro, Bernardini, Roberto, Picca, Marina, Cappa, Marco, Magazzù, Giuseppe, Catassi, Carlo, Urbino, Antonio Francesco, Memo, Luigi, Donzelli, Gianpaolo, Minetti, Carlo, Paravati, Francesco, Di Mauro, Giuseppe, Festini, Filippo, Esposito, Susanna, Corsello, Giovanni
Published 2014