Clinical features of Pompe disease

por MANGANELLI, FIORE, RUGGIERO, LUCIA
Publicado 2013

Facioscapulohumeral muscular dystrophy (FSHD) and multiple sclerosis: a case report

por Iodice, Rosa, Ugga, Lorenzo, Aruta, Francesco, Iovino, Aniello, Ruggiero, Lucia
Publicado 2020

One-year follow up of three Italian patients with Duchenne muscular dystrophy treated with ataluren: is earlier better?

por Ruggiero, Lucia, Iodice, Rosa, Esposito, Marcello, Dubbioso, Raffaele, Tozza, Stefano, Vitale, Floriana, Santoro, Lucio, Manganelli, Fiore
Publicado 2018

Primary Progressive Multiple Sclerosis Under Anti-TNFα Treatment: A Case Report

por Iovino, Aniello, Aruta, Francesco, Dubbioso, Raffaele, Ruggiero, Lucia, Tozza, Stefano, Spina, Emanuele, Manganelli, Fiore, Iodice, Rosa
Publicado 2020

Value of Antibody Determinations in Chronic Dysimmune Neuropathies

por Tozza, Stefano, Spina, Emanuele, Iovino, Aniello, Iodice, Rosa, Dubbioso, Raffaele, Ruggiero, Lucia, Nolano, Maria, Manganelli, Fiore
Publicado 2022

Alemtuzumab in Covid era

por Iovino, Aniello, Olivieri, Nunzio, Aruta, Francesco, Giaquinto, Emanuele, Ruggiero, Lucia, Spina, Emanuele, Tozza, Stefano, Manganelli, Fiore, Iodice, Rosa
Publicado 2021

Quantitative Sensory Testing in Late-Onset ATTRv Presymptomatic Subjects: A Single Center Experience

por Tozza, Stefano, Severi, Daniele, Palumbo, Giovanni, Provitera, Vincenzo, Ruggiero, Lucia, Dubbioso, Raffaele, Iodice, Rosa, Nolano, Maria, Manganelli, Fiore
Publicado 2022

RYR1 Sequence Variants in Myopathies: Expression and Functional Studies in Two Families

por Zullo, Alberto, Perrotta, Giuseppa, D'Angelo, Rossana, Ruggiero, Lucia, Gravino, Elvira, Del Vecchio, Luigi, Santoro, Lucio, Salvatore, Francesco, Carsana, Antonella
Publicado 2019

The neuropathy in hereditary transthyretin amyloidosis: A narrative review

por Tozza, Stefano, Severi, Daniele, Spina, Emanuele, Iovino, Aniello, Aruta, Francesco, Ruggiero, Lucia, Dubbioso, Raffaele, Iodice, Rosa, Nolano, Maria, Manganelli, Fiore
Publicado 2021

Case Report: Severe Rhabdomyolysis and Multiorgan Failure After ChAdOx1 nCoV-19 Vaccination

por Cirillo, Emilia, Esposito, Ciro, Giardino, Giuliana, Azan, Gaetano, Fecarotta, Simona, Pittaluga, Stefania, Ruggiero, Lucia, Barretta, Ferdinando, Frisso, Giulia, Notarangelo, Luigi Daniele, Pignata, Claudio
Publicado 2022

The impact of symptoms on daily life as perceived by patients with Charcot-Marie-Tooth type 1A disease

por Tozza, Stefano, Bruzzese, Dario, Severi, Daniele, Spina, Emanuele, Iodice, Rosa, Ruggiero, Lucia, Dubbioso, Raffaele, Iovino, Aniello, Aruta, Francesco, Nolano, Maria, Santoro, Lucio, Manganelli, Fiore
Publicado 2021

Reversible Valproate-Induced Subacute Encephalopathy Associated With a MT-ATP8 Variant in the Mitochondrial Genome

por De Michele, Giovanna, Sorrentino, Pierpaolo, Nesti, Claudia, Rubegni, Anna, Ruggiero, Lucia, Peluso, Silvio, Antenora, Antonella, Quarantelli, Mario, Filla, Alessandro, De Michele, Giuseppe, Santorelli, Filippo M.
Publicado 2018

Multimodal evaluation of an Italian family with a hereditary spastic paraplegia and POLR3A mutations

por Ruggiero, Lucia, Iovino, Aniello, Dubbioso, Raffaele, Cocozza, Sirio, Trovato, Rosanna, Aruta, Francesco, Pontillo, Giuseppe, Barghigiani, Melissa, Brunetti, Arturo, Santorelli, Filippo Maria, Manganelli, Fiore, Iodice, Rosa
Publicado 2020

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations

por Savarese, Marco, Di Fruscio, Giuseppina, Tasca, Giorgio, Ruggiero, Lucia, Janssens, Sandra, De Bleecker, Jan, Delpech, Marc, Musumeci, Olimpia, Toscano, Antonio, Angelini, Corrado, Sacconi, Sabrina, Santoro, Lucio, Ricci, Enzo, Claes, Kathleen, Politano, Luisa, Nigro, Vincenzo
Publicado 2015

Centronuclear myopathy related to dynamin 2 mutations: Clinical, morphological, muscle imaging and genetic features of an Italian cohort

por Catteruccia, Michela, Fattori, Fabiana, Codemo, Valentina, Ruggiero, Lucia, Maggi, Lorenzo, Tasca, Giorgio, Fiorillo, Chiara, Pane, Marika, Berardinelli, Angela, Verardo, Margherita, Bragato, Cinzia, Mora, Marina, Morandi, Lucia, Bruno, Claudio, Santoro, Lucio, Pegoraro, Elena, Mercuri, Eugenio, Bertini, Enrico, D’Amico, Adele
Publicado 2013

An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia

por Gemelli, Chiara, Traverso, Monica, Trevisan, Lucia, Fabbri, Sabrina, Scarsi, Elena, Carlini, Barbara, Prada, Valeria, Mongini, Tiziana, Ruggiero, Lucia, Patrone, Serena, Gallone, Salvatore, Iodice, Rosa, Pisciotta, Livia, Zara, Federico, Origone, Paola, Rota, Eugenia, Minetti, Carlo, Bruno, Claudio, Schenone, Angelo, Mandich, Paola, Fiorillo, Chiara, Grandis, Marina
Publicado 2021

Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies

por Bachmann, Christoph, Franchini, Martina, Van den Bersselaar, Luuk R, Kruijt, Nick, Voermans, Nicol C, Bouman, Karlijn, Kamsteeg, Erik-Jan, Knop, Karl Christian, Ruggiero, Lucia, Santoro, Lucio, Nevo, Yoram, Wilmshurst, Jo, Vissing, John, Sinnreich, Michael, Zorzato, Daniele, Muntoni, Francesco, Jungbluth, Heinz, Zorzato, Francesco, Treves, Susan
Publicado 2022

Cytokine Profile in Striated Muscle Laminopathies: New Promising Biomarkers for Disease Prediction

por Cappelletti, Cristina, Tramacere, Irene, Cavalcante, Paola, Schena, Elisa, Politano, Luisa, Carboni, Nicola, Gambineri, Alessandra, D’Amico, Adele, Ruggiero, Lucia, Ricci, Giulia, Siciliano, Gabriele, Boriani, Giuseppe, Mongini, Tiziana Enrica, Vercelli, Liliana, Biagini, Elena, Ziacchi, Matteo, D’Apice, Maria Rosaria, Lattanzi, Giovanna, Mantegazza, Renato, Maggi, Lorenzo, Bernasconi, Pia
Publicado 2020

The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study

por Tolomeo, Deborah, Orsucci, Daniele, Nesti, Claudia, Baldacci, Jacopo, Battini, Roberta, Bruno, Claudio, Bruno, Giorgia, Cassandrini, Denise, Doccini, Stefano, Donati, M. Alice, Ferrari, Annarita, Fiori, Simona, Fiorillo, Chiara, Guerrini, Renzo, Mari, Francesco, Montomoli, Martino, Pochiero, Francesca, Procopio, Elena, Ruggiero, Lucia, Sampaolo, Simone, Sicca, Federico, Ticci, Chiara, Rubegni, Anna, Santorelli, Filippo M.
Publicado 2021

Elevated TGF β2 serum levels in Emery-Dreifuss Muscular Dystrophy: Implications for myocyte and tenocyte differentiation and fibrogenic processes

por Bernasconi, Pia, Carboni, Nicola, Ricci, Giulia, Siciliano, Gabriele, Politano, Luisa, Maggi, Lorenzo, Mongini, Tiziana, Vercelli, Liliana, Rodolico, Carmelo, Biagini, Elena, Boriani, Giuseppe, Ruggiero, Lucia, Santoro, Lucio, Schena, Elisa, Prencipe, Sabino, Evangelisti, Camilla, Pegoraro, Elena, Morandi, Lucia, Columbaro, Marta, Lanzuolo, Chiara, Sabatelli, Patrizia, Cavalcante, Paola, Cappelletti, Cristina, Bonne, Gisèle, Muchir, Antoine, Lattanzi, Giovanna
Publicado 2018