Nutritional Challenges in Duchenne Muscular Dystrophy

por Salera, Simona, Menni, Francesca, Moggio, Maurizio, Guez, Sophie, Sciacco, Monica, Esposito, Susanna
Publicado 2017

Expanding the Phenotypic Spectrum of Vocal Cord and Pharyngeal Weakness With Distal Myopathy due to the p.S85C MATR3 Mutation

por Manini, Arianna, Velardo, Daniele, Ciscato, Patrizia, Cinnante, Claudia, Moggio, Maurizio, Comi, Giacomo, Corti, Stefania, Ronchi, Dario
Publicado 2022

Mitochondrial disease heterogeneity: a prognostic challenge

por Moggio, Maurizio, Colombo, Irene, Peverelli, Lorenzo, Villa, Luisa, Xhani, Rubjona, Testolin, Silvia, Di Mauro, Salvatore, Sciacco, Monica
Publicado 2014

Coexistence of VHL Disease and CPT2 Deficiency: A Case Report

por Ferrara, Alfonso Massimiliano, Sciacco, Monica, Zovato, Stefania, Rizzati, Silvia, Colombo, Irene, Boaretto, Francesca, Moggio, Maurizio, Opocher, Giuseppe
Publicado 2016

MERRF Mutation A8344G in a Four-Generation Family without Central Nervous System Involvement: Clinical and Molecular Characterization

por Ripolone, Michela, Zanotti, Simona, Napoli, Laura, Ronchi, Dario, Ciscato, Patrizia, Comi, Giacomo Pietro, Moggio, Maurizio, Sciacco, Monica
Publicado 2023

In Vivo Correction of COX Deficiency by Activation of the AMPK/PGC-1α Axis

por Viscomi, Carlo, Bottani, Emanuela, Civiletto, Gabriele, Cerutti, Raffaele, Moggio, Maurizio, Fagiolari, Gigliola, Schon, Eric A., Lamperti, Costanza, Zeviani, Massimo
Publicado 2011

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

por Civiletto, Gabriele, Dogan, Sukru Anil, Cerutti, Raffaele, Fagiolari, Gigliola, Moggio, Maurizio, Lamperti, Costanza, Benincá, Cristiane, Viscomi, Carlo, Zeviani, Massimo
Publicado 2018

Expanding the phenotypic spectrum of non-alcoholic fatty liver disease and hypertriglyceridemia

por Meroni, Marica, Longo, Miriam, Paolini, Erika, Tria, Giada, Ripolone, Michela, Napoli, Laura, Moggio, Maurizio, Fracanzani, Anna Ludovica, Dongiovanni, Paola
Publicado 2022

Tyr78Phe Transthyretin Mutation with Predominant Motor Neuropathy as the Initial Presentation

por Riboldi, Giulietta, Del Bo, Roberto, Ranieri, Michela, Magri, Francesca, Sciacco, Monica, Moggio, Maurizio, Bresolin, Nereo, Corti, Stefania, Comi, Giacomo P.
Publicado 2011

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

por Moriggi, Manuela, Capitanio, Daniele, Torretta, Enrica, Barbacini, Pietro, Bragato, Cinzia, Sartori, Patrizia, Moggio, Maurizio, Maggi, Lorenzo, Mora, Marina, Gelfi, Cecilia
Publicado 2021

Impaired Expression of Insulin-Like Growth Factor-1 System in Skeletal Muscle of Amyotrophic Lateral Sclerosis Patients

por Lunetta, Christian, Serafini, Massimo, Prelle, Alessandro, Magni, Paolo, Dozio, Elena, Ruscica, Massimiliano, Sassone, Jenny, Colciago, Clarissa, Moggio, Maurizio, Corbo, Massimo, Silani, Vincenzo
Publicado 2012

A case report with the peculiar concomitance of 2 different genetic syndromes

por Lerario, Alberto, Colombo, Irene, Milani, Donatella, Peverelli, Lorenzo, Villa, Luisa, Del Bo, Roberto, Sciacco, Monica, Comi, Giacomo Pietro, Esposito, Susanna, Moggio, Maurizio
Publicado 2016

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

Low Anaerobic Threshold and Increased Skeletal Muscle Lactate Production in Subjects with Huntington's Disease

por Ciammola, Andrea, Sassone, Jenny, Sciacco, Monica, Mencacci, Niccolò E, Ripolone, Michela, Bizzi, Caterina, Colciago, Clarissa, Moggio, Maurizio, Parati, Gianfranco, Silani, Vincenzo, Malfatto, Gabriella
Publicado 2011

Glucose-free/high-protein diet improves hepatomegaly and exercise intolerance in glycogen storage disease type III mice

por Pagliarani, Serena, Lucchiari, Sabrina, Ulzi, Gianna, Ripolone, Michela, Violano, Raffaella, Fortunato, Francesco, Bordoni, Andreina, Corti, Stefania, Moggio, Maurizio, Bresolin, Nereo, Comi, Giacomo P.
Publicado 2018

Immunofluorescence signal intensity measurements as a semi-quantitative tool to assess sarcoglycan complex expression in muscle biopsy

por Zanotti, Simona, Magri, Francesca, Poggetti, Francesca, Ripolone, Michela, Velardo, Daniele, Fortunato, Francesco, Ciscato, Patrizia, Moggio, Maurizio, Corti, Stefania, Comi, Giacomo Pietro, Sciacco, Monica
Publicado 2022

Case Reports: Novel Missense Variants in the Filamin C Actin Binding Domain Cause Variable Phenotypes

por Velardo, Daniele, D'Angelo, Maria Grazia, Citterio, Andrea, Panzeri, Elena, Napoli, Laura, Cinnante, Claudia, Moggio, Maurizio, Comi, Giacomo Pietro, Ronchi, Dario, Bassi, Maria Teresa
Publicado 2022

Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases

por Filocamo, Mirella, Baldo, Chiara, Goldwurm, Stefano, Renieri, Alessandra, Angelini, Corrado, Moggio, Maurizio, Mora, Marina, Merla, Giuseppe, Politano, Luisa, Garavaglia, Barbara, Casareto, Lorena, Bricarelli, Francesca Dagna
Publicado 2013

Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model

por Brunetti, Dario, Dusi, Sabrina, Giordano, Carla, Lamperti, Costanza, Morbin, Michela, Fugnanesi, Valeria, Marchet, Silvia, Fagiolari, Gigliola, Sibon, Ody, Moggio, Maurizio, d’Amati, Giulia, Tiranti, Valeria
Publicado 2014

Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts

por Onesto, Elisa, Colombrita, Claudia, Gumina, Valentina, Borghi, Maria Orietta, Dusi, Sabrina, Doretti, Alberto, Fagiolari, Gigliola, Invernizzi, Federica, Moggio, Maurizio, Tiranti, Valeria, Silani, Vincenzo, Ratti, Antonia
Publicado 2016