Exercise testing in late-onset glycogen storage disease type II patients undergoing enzyme replacement therapy

por Marzorati, Mauro, Porcelli, Simone, Bellistri, Giuseppe, Morandi, Lucia, Grassi, Bruno
Publicado 2012

Imaging alterations in skeletal muscle channelopathies: a study in 15 patients

por Maggi, Lorenzo, Brugnoni, Raffaella, Canioni, Eleonora, Maccagnano, Elio, Bernasconi, Pia, Morandi, Lucia
Publicado 2015

A novel PNPLA2 mutation causing total loss of RNA and protein expression in two NLSDM siblings with early onset but slowly progressive severe myopathy

por Tavian, Daniela, Maggi, Lorenzo, Mora, Marina, Morandi, Lucia, Bragato, Cinzia, Missaglia, Sara
Publicado 2019

Partial tandem duplication of mtDNA–tRNA(Phe) impairs mtDNA translation in late-onset mitochondrial myopathy

por Arzuffi, Paola, Lamperti, Costanza, Fernandez-Vizarra, Erika, Tonin, Paola, Morandi, Lucia, Zeviani, Massimo
Publicado 2012

Undiagnosed myopathy before surgery and safe anaesthesia table

por TREVISAN, CARLO P., ACCORSI, ALMA, MORANDI, LUCIA O., MONGINI, TIZIANA, SAVOIA, GENNARO, GRAVINO, ELVIRA, ANGELINI, CORRADO, TEGAZZIN, VINCENZO
Publicado 2013

Molecular Fingerprint of BMD Patients Lacking a Portion in the Rod Domain of Dystrophin

por Capitanio, Daniele, Moriggi, Manuela, Barbacini, Pietro, Torretta, Enrica, Moroni, Isabella, Blasevich, Flavia, Morandi, Lucia, Mora, Marina, Gelfi, Cecilia
Publicado 2022

Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy

por Ardissone, Anna, Bragato, Cinzia, Caffi, Lorella, Blasevich, Flavia, Maestrini, Sabrina, Bianchi, Maria Luisa, Morandi, Lucia, Moroni, Isabella, Mora, Marina
Publicado 2013

Familial adult-onset Pompe disease associated with unusual clinical and histological features

por MAGGI, LORENZO, SALERNO, FRANCO, BRAGATO, CINZIA, SAREDI, SIMONA, BLASEVICH, FLAVIA, MACCAGNANO, ELIO, PASANISI, BARBARA, DANESINO, CESARE, MORA, MARINA, MORANDI, LUCIA
Publicado 2013

Severe cardiomyopathy in a young patient with complete deficiency of adipose triglyceride lipase due to a novel mutation in PNPLA2 gene

por Pasanisi, Maria Barbara, Missaglia, Sara, Cassandrini, Denise, Salerno, Franco, Farina, Stefania, Andreini, Daniele, Agostoni, Piergiuseppe, Morandi, Lucia, Mora, Marina, Tavian, Daniela
Publicado 2016

Autophagy, Inflammation and Innate Immunity in Inflammatory Myopathies

por Cappelletti, Cristina, Galbardi, Barbara, Kapetis, Dimos, Vattemi, Gaetano, Guglielmi, Valeria, Tonin, Paola, Salerno, Franco, Morandi, Lucia, Tomelleri, Giuliano, Mantegazza, Renato, Bernasconi, Pia
Publicado 2014

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

Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 gene

por Zanolini, Alice, Potic, Ana, Carrara, Franco, Lamantea, Eleonora, Diodato, Daria, Blasevich, Flavia, Marchet, Silvia, Mora, Marina, Pallotti, Francesco, Morandi, Lucia, Zeviani, Massimo, Lamperti, Costanza
Publicado 2016

Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F

por Torella, Annalaura, Fanin, Marina, Mutarelli, Margherita, Peterle, Enrico, Del Vecchio Blanco, Francesca, Rispoli, Rossella, Savarese, Marco, Garofalo, Arcomaria, Piluso, Giulio, Morandi, Lucia, Ricci, Giulia, Siciliano, Gabriele, Angelini, Corrado, Nigro, Vincenzo
Publicado 2013

Mechanisms Inducing Low Bone Density in Duchenne Muscular Dystrophy in Mice and Humans

por Rufo, Anna, Del Fattore, Andrea, Capulli, Mattia, Carvello, Francesco, De Pasquale, Loredana, Ferrari, Serge, Pierroz, Dominique, Morandi, Lucia, De Simone, Michele, Rucci, Nadia, Bertini, Enrico, Bianchi, Maria Luisa, De Benedetti, Fabrizio, Teti, Anna
Publicado 2011

Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2

por Di Blasi, Claudia, Bellafiore, Emanuela, Salih, Mustafa AM, Manzini, M Chiara, Moore, Steven A, Seidahmed, Mohammed Z, Mukhtar, Maowia M, Karrar, Zein A, Walsh, Christopher A, Campbell, Kevin P, Mantegazza, Renato, Morandi, Lucia, Mora, Marina
Publicado 2011

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

Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy

por Ruggieri, Alessandra, Brancati, Francesco, Zanotti, Simona, Maggi, Lorenzo, Pasanisi, Maria Barbara, Saredi, Simona, Terracciano, Chiara, Antozzi, Carlo, D′Apice, Maria Rosaria, Sangiuolo, Federica, Novelli, Giuseppe, Marshall, Christian R., Scherer, Stephen W., Morandi, Lucia, Federici, Luca, Massa, Roberto, Mora, Marina, Minassian, Berge A.
Publicado 2015

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 2017

Genotype-phenotype correlation in Pompe disease, a step forward

por De Filippi, Paola, Saeidi, Kolsoum, Ravaglia, Sabrina, Dardis, Andrea, Angelini, Corrado, Mongini, Tiziana, Morandi, Lucia, Moggio, Maurizio, Di Muzio, Antonio, Filosto, Massimiliano, Bembi, Bruno, Giannini, Fabio, Marrosu, Giovanni, Rigoldi, Miriam, Tonin, Paola, Servidei, Serenella, Siciliano, Gabriele, Carlucci, Annalisa, Scotti, Claudia, Comelli, Mario, Toscano, Antonio, Danesino, Cesare
Publicado 2014

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