Nutritional Challenges in Duchenne Muscular Dystrophy

by Simona Salera, Francesca Menni, Maurizio Moggio, Sophie Guez, Monica Sciacco, Susanna Esposito
Published 2017-06-01

Rapamycin rescues mitochondrial myopathy via coordinated activation of autophagy and lysosomal biogenesis

by Gabriele Civiletto, Sukru Anil Dogan, Raffaele Cerutti, Gigliola Fagiolari, Maurizio Moggio, Costanza Lamperti, Cristiane Benincá, Carlo Viscomi, Massimo Zeviani
Published 2018-11-01

Muscle Proteomic Profile before and after Enzyme Replacement Therapy in Late-Onset Pompe Disease

by Manuela Moriggi, Daniele Capitanio, Enrica Torretta, Pietro Barbacini, Cinzia Bragato, Patrizia Sartori, Maurizio Moggio, Lorenzo Maggi, Marina Mora, Cecilia Gelfi
Published 2021-03-01

Tyr78Phe Transthyretin Mutation with Predominant Motor Neuropathy as the Initial Presentation

by Giulietta Riboldi, Roberto Del Bo, Michela Ranieri, Francesca Magri, Monica Sciacco, Maurizio Moggio, Nereo Bresolin, Stefania Corti, Giacomo P. Comi
Published 2011-02-01

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

by Sara Gibertini, Alessandra Ruggieri, Simona Saredi, Franco Salerno, Flavia Blasevich, Laura Napoli, Maurizio Moggio, Vincenzo Nigro, Lucia Morandi, Lorenzo Maggi, Marina Mora
Published 2018-12-01

In Vitro and In Vivo Tetracycline-Controlled Myogenic Conversion of NIH-3T3 Cells: Evidence of Programmed Cell Death after Muscle Cell Transplantation

by Roberto Del Bo, Yvan Torrente, Stefania Corti, Maria Grazia D'angelo, Giacomo Pietro Comi, Gigliola Fagiolari, Sabrina Salani, Agata Cova, Federica Pisati, Maurizio Moggio, Carlo Ausenda, Guglielmo Scarlato, Nereo Bresolin
Published 2001-03-01

Mitochondrial changes in platelets are not related to those in skeletal muscle during human septic shock.

by Alessandro Protti, Francesco Fortunato, Maria L Caspani, Mauro Pluderi, Valeria Lucchini, Nadia Grimoldi, Luigi P Solimeno, Gigliola Fagiolari, Patrizia Ciscato, Samis M A Zella, Maurizio Moggio, Giacomo P Comi, Luciano Gattinoni
Published 2014-01-01

Stormorken Syndrome Caused by a p.R304W STIM1 Mutation: The First Italian Patient and a Review of the Literature

by Oscar Borsani, Daniela Piga, Stefania Costa, Alessandra Govoni, Francesca Magri, Andrea Artoni, Claudia M. Cinnante, Gigliola Fagiolari, Patrizia Ciscato, Maurizio Moggio, Nereo Bresolin, Nereo Bresolin, Giacomo P. Comi, Giacomo P. Comi, Stefania Corti, Stefania Corti
Published 2018-10-01

Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients

by Olimpia Musumeci, Emanuele Barca, Costanza Lamperti, Serenella Servidei, Giacomo Pietro Comi, Maurizio Moggio, Tiziana Mongini, Gabriele Siciliano, Massimiliano Filosto, Elena Pegoraro, Guido Primiano, Dario Ronchi, Liliana Vercelli, Daniele Orsucci, Luca Bello, Massimo Zeviani, Michelangelo Mancuso, Antonio Toscano
Published 2019-02-01

The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks

by Chiara Baldo, Lorena Casareto, Alessandra Renieri, Giuseppe Merla, Barbara Garavaglia, Stefano Goldwurm, Elena Pegoraro, Maurizio Moggio, Marina Mora, Luisa Politano, Luca Sangiorgi, Raffaella Mazzotti, Valeria Viotti, Ilaria Meloni, Maria Teresa Pellico, Chiara Barzaghi, Chiuhui Mary Wang, Lucia Monaco, Mirella Filocamo
Published 2016-10-01

Large genotype–phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis

by Giulia Ricci, Fabiano Mele, Monica Govi, Lucia Ruggiero, Francesco Sera, Liliana Vercelli, Cinzia Bettio, Lucio Santoro, Tiziana Mongini, Luisa Villa, Maurizio Moggio, Massimiliano Filosto, Marina Scarlato, Stefano C. Previtali, Silvia Maria Tripodi, Elena Pegoraro, Roberta Telese, Antonio Di Muzio, Carmelo Rodolico, Elisabetta Bucci, Giovanni Antonini, Maria Grazia D’Angelo, Angela Berardinelli, Lorenzo Maggi, Rachele Piras, Maria Antonietta Maioli, Gabriele Siciliano, Giuliano Tomelleri, Corrado Angelini, Rossella Tupler
Published 2020-12-01

Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients

by Teresa Giugliano, Marco Savarese, Arcomaria Garofalo, Esther Picillo, Chiara Fiorillo, Adele D’Amico, Lorenzo Maggi, Lucia Ruggiero, Liliana Vercelli, Francesca Magri, Fabiana Fattori, Annalaura Torella, Manuela Ergoli, Anna Rubegni, Marina Fanin, Olimpia Musumeci, Jan De Bleecker, Lorenzo Peverelli, Maurizio Moggio, Eugenio Mercuri, Antonio Toscano, Marina Mora, Lucio Santoro, Tiziana Mongini, Enrico Bertini, Claudio Bruno, Carlo Minetti, Giacomo Pietro Comi, Filippo Maria Santorelli, Corrado Angelini, Luisa Politano, Giulio Piluso, Vincenzo Nigro
Published 2018-10-01

Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies

by Ana Nikolic, Takako I Jones, Monica Govi, Fabiano Mele, Louise Maranda, Francesco Sera, Giulia Ricci, Lucia Ruggiero, Liliana Vercelli, Simona Portaro, Luisa Villa, Chiara Fiorillo, Lorenzo Maggi, Lucio Santoro, Giovanni Antonini, Massimiliano Filosto, Maurizio Moggio, Corrado Angelini, Elena Pegoraro, Angela Berardinelli, Maria Antonetta Maioli, Grazia D’Angelo, Antonino Di Muzio, Gabriele Siciliano, Giuliano Tomelleri, Maurizio D’Esposito, Floriana Della Ragione, Arianna Brancaccio, Rachele Piras, Carmelo Rodolico, Tiziana Mongini, Frederique Magdinier, Valentina Salsi, Peter L. Jones, Rossella Tupler
Published 2020-04-01

Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases

by Chiara Ticci, Daniele Orsucci, Anna Ardissone, Luca Bello, Enrico Bertini, Irene Bonato, Claudio Bruno, Valerio Carelli, Daria Diodato, Stefano Doccini, Maria Alice Donati, Claudia Dosi, Massimiliano Filosto, Chiara Fiorillo, Chiara La Morgia, Costanza Lamperti, Silvia Marchet, Diego Martinelli, Carlo Minetti, Maurizio Moggio, Tiziana Enrica Mongini, Vincenzo Montano, Isabella Moroni, Olimpia Musumeci, Elia Pancheri, Elena Pegoraro, Guido Primiano, Elena Procopio, Anna Rubegni, Roberta Scalise, Monica Sciacco, Serenella Servidei, Gabriele Siciliano, Costanza Simoncini, Deborah Tolomeo, Paola Tonin, Antonio Toscano, Flavia Tubili, Michelangelo Mancuso, Roberta Battini, Filippo Maria Santorelli
Published 2021-05-01