Diagnostic algorithm and case conundrums: patients presenting with proximal muscle weakness

by Mongini, Tiziana
Published 2013

Round Table: Discussion with families and lay associations

by Mongini, Tiziana, Gambineri, Alessandra
Published in Orphanet J Rare Dis (2015)

Practical approach to respiratory emergencies in neurological diseases

by Racca, Fabrizio, Vianello, Andrea, Mongini, Tiziana, Ruggeri, Paolo, Versaci, Antonio, Vita, Gian Luca, Vita, Giuseppe
Published in Neurol Sci (2019)

Undiagnosed myopathy before surgery and safe anaesthesia table

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

Differential diagnosis of vacuolar muscle biopsies: use of p62, LC3 and LAMP2 immunohistochemistry

by VITTONATTO, ELISA, BOSCHI, SILVIA, CHIADò-PIAT, LOREDANA, PONZALINO, VALENTINA, BORTOLANI, SARA, BRUSA, CHIARA, RAINERO, INNOCENZO, RICCI, FEDERICA, VERCELLI, LILIANA, MONGINI, TIZIANA
Published in Acta Myol (2017)

Myelin‐Associated Glycoprotein is Altered in a Familial Late‐Onset Orthochromatic Leukodystrophy

by Giordana, Maria Teresa, Piccinini, Marco, Palmucci, Laura, Buccinnà, Barbara, Ramondetti, Cristina, Brusco, Alfredo, Mongini, Tiziana, Leombruni, Sabrina, Vaula, Giovanna, Rinaudo, Maria Teresa
Published in Brain Pathol (2006)

Vacuolated PAS-Positive Lymphocytes on Blood Smear: An Easy Screening Tool and a Possible Biomarker for Monitoring Therapeutic Responses in Late Onset Pompe Disease (LOPD)

by Parisi, Daniela, Musumeci, Olimpia, Mondello, Stefania, Brizzi, Teresa, Oteri, Rosaria, Migliorato, Alba, Ciranni, Annamaria, Mongini, Tiziana E., Rodolico, Carmelo, Vita, Giuseppe, Toscano, Antonio
Published in Front Neurol (2018)

The role of rehabilitation in the management of late-onset Pompe disease: a narrative review of the level of evidence

by IOLASCON, GIOVANNI, VITACCA, MICHELE, CARRARO, ELENA, CHISARI, CARMELO, FIORE, PIETRO, MESSINA, SONIA, MONGINI, TIZIANA ENRICA GIOVANNA, SANSONE, VALERIA A., TOSCANO, ANTONIO, SICILIANO, GABRIELE
Published in Acta Myol (2018)

Histologic muscular history in steroid-treated and untreated patients with Duchenne dystrophy

by Peverelli, Lorenzo, Testolin, Silvia, Villa, Luisa, D'Amico, Adele, Petrini, Stefania, Favero, Chiara, Magri, Francesca, Morandi, Lucia, Mora, Marina, Mongini, Tiziana, Bertini, Enrico, Sciacco, Monica, Comi, Giacomo P., Moggio, Maurizio
Published in Neurology (2015)

Quantitative muscle strength assessment in duchenne muscular dystrophy: longitudinal study and correlation with functional measures

by Lerario, Alberto, Bonfiglio, Serena, Sormani, MariaPia, Tettamanti, Andrea, Marktel, Sarah, Napolitano, Sara, Previtali, Stefano, Scarlato, Marina, Natali-Sora, MariaGrazia, Mercuri, Eugenio, Bresolin, Nereo, Mongini, Tiziana, Comi, Giancarlo, Gatti, Roberto, Ciceri, Fabio, Cossu, Giulio, Torrente, Yvan
Published 2012

Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients

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

Primary mitochondrial myopathy: Clinical features and outcome measures in 118 cases from Italy

by Montano, Vincenzo, Gruosso, Francesco, Carelli, Valerio, Comi, Giacomo Pietro, Filosto, Massimiliano, Lamperti, Costanza, Mongini, Tiziana, Musumeci, Olimpia, Servidei, Serenella, Tonin, Paola, Toscano, Antonio, Modenese, Angela, Primiano, Guido, Valentino, Maria Lucia, Bortolani, Sara, Marchet, Silvia, Meneri, Megi, Tavilla, Graziana, Siciliano, Gabriele, Mancuso, Michelangelo
Published in Neurol Genet (2020)

Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype

by Brioschi, Simona, Gualandi, Francesca, Scotton, Chiara, Armaroli, Annarita, Bovolenta, Matteo, Falzarano, Maria S, Sabatelli, Patrizia, Selvatici, Rita, D’Amico, Adele, Pane, Marika, Ricci, Giulia, Siciliano, Gabriele, Tedeschi, Silvana, Pini, Antonella, Vercelli, Liliana, De Grandis, Domenico, Mercuri, Eugenio, Bertini, Enrico, Merlini, Luciano, Mongini, Tiziana, Ferlini, Alessandra
Published 2012

Genotype-phenotype correlation in Pompe disease, a step forward

by 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
Published in Orphanet J Rare Dis (2014)

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

by 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
Published in Cells (2020)

Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study

by Tiziano, Francesco D, Lomastro, Rosa, Di Pietro, Lorena, Barbara Pasanisi, Maria, Fiori, Stefania, Angelozzi, Carla, Abiusi, Emanuela, Angelini, Corrado, Sorarù, Gianni, Gaiani, Alessandra, Mongini, Tiziana, Vercelli, Liliana, Vasco, Gessica, Vita, Giuseppe, Luca Vita, Gian, Messina, Sonia, Politano, Luisa, Passamano, Luigia, Di Gregorio, Grazia, Montomoli, Cristina, Orsi, Chiara, Campanella, Angela, Mantegazza, Renato, Morandi, Lucia
Published 2013

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

by 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
Published in Nucleus (2018)

Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population

by Johnson, Katherine, De Ridder, Willem, Töpf, Ana, Bertoli, Marta, Phillips, Lauren, De Jonghe, Peter, Baets, Jonathan, Deconinck, Tine, Rakocevic Stojanovic, Vidosava, Perić, Stojan, Durmus, Hacer, Jamal-Omidi, Shirin, Nafissi, Shahriar, Mongini, Tiziana, Łusakowska, Anna, Busby, Mark, Miller, James, Norwood, Fiona, Hudson, Judith, Barresi, Rita, Lek, Monkol, MacArthur, Daniel G, Straub, Volker
Published in J Neurol Neurosurg Psychiatry (2019)

Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy

by Ruggiero, Lucia, Mele, Fabiano, Manganelli, Fiore, Bruzzese, Dario, Ricci, Giulia, Vercelli, Liliana, Govi, Monica, Vallarola, Antonio, Tripodi, Silvia, Villa, Luisa, Di Muzio, Antonio, Scarlato, Marina, Bucci, Elisabetta, Antonini, Giovanni, Maggi, Lorenzo, Rodolico, Carmelo, Tomelleri, Giuliano, Filosto, Massimiliano, Previtali, Stefano, Angelini, Corrado, Berardinelli, Angela, Pegoraro, Elena, Moggio, Maurizio, Mongini, Tiziana, Siciliano, Gabriele, Santoro, Lucio, Tupler, Rossella
Published in JAMA Netw Open (2020)

A 5-year clinical follow-up study from the Italian National Registry for FSHD

by Vercelli, Liliana, Mele, Fabiano, Ruggiero, Lucia, Sera, Francesco, Tripodi, Silvia, Ricci, Giulia, Vallarola, Antonio, Villa, Luisa, Govi, Monica, Maranda, Louise, Di Muzio, Antonio, Scarlato, Marina, Bucci, Elisabetta, Maggi, Lorenzo, Rodolico, Carmelo, Moggio, Maurizio, Filosto, Massimiliano, Antonini, Giovanni, Previtali, Stefano, Angelini, Corrado, Berardinelli, Angela, Pegoraro, Elena, Siciliano, Gabriele, Tomelleri, Giuliano, Santoro, Lucio, Mongini, Tiziana, Tupler, Rossella
Published in J Neurol (2020)