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

por Mongini, Tiziana
Publicado 2013

Round Table: Discussion with families and lay associations

por Mongini, Tiziana, Gambineri, Alessandra
Publicado 2015

Juvenile Myasthenia Gravis in a 14-year-old adolescent masked by mood disorder: the complex balance between neurology and psychiatry

por D’Alessandro, Rossella, Salvalaggio, Anna, Vacchetti, Martina, Mongini, Tiziana E., Ricci, Federica S.
Publicado 2022

Practical approach to respiratory emergencies in neurological diseases

por Racca, Fabrizio, Vianello, Andrea, Mongini, Tiziana, Ruggeri, Paolo, Versaci, Antonio, Vita, Gian Luca, Vita, Giuseppe
Publicado 2019

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

Psychopharmacological Treatments for Mental Disorders in Patients with Neuromuscular Diseases: A Scoping Review

por Brusa, Chiara, Gadaleta, Giulio, D’Alessandro, Rossella, Urbano, Guido, Vacchetti, Martina, Davico, Chiara, Vitiello, Benedetto, Ricci, Federica S., Mongini, Tiziana E.
Publicado 2022

Assessing Cognitive Function in Neuromuscular Diseases: A Pilot Study in a Sample of Children and Adolescents

por D’Alessandro, Rossella, Ragusa, Neftj, Vacchetti, Martina, Rolle, Enrica, Rossi, Francesca, Brusa, Chiara, Davico, Chiara, Vitiello, Benedetto, Mongini, Tiziana, Ricci, Federica S.
Publicado 2021

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)

por Parisi, Daniela, Musumeci, Olimpia, Mondello, Stefania, Brizzi, Teresa, Oteri, Rosaria, Migliorato, Alba, Ciranni, Annamaria, Mongini, Tiziana E., Rodolico, Carmelo, Vita, Giuseppe, Toscano, Antonio
Publicado 2018

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

por IOLASCON, GIOVANNI, VITACCA, MICHELE, CARRARO, ELENA, CHISARI, CARMELO, FIORE, PIETRO, MESSINA, SONIA, MONGINI, TIZIANA ENRICA GIOVANNA, SANSONE, VALERIA A., TOSCANO, ANTONIO, SICILIANO, GABRIELE
Publicado 2018

Improving Recognition of Treatable Rare Neuromuscular Disorders in Primary Care: A Pilot Feasibility Study

por Ricci, Federica S., D’Alessandro, Rossella, Vacchetti, Martina, Salvalaggio, Anna, Somà, Alessandra, Daffunchio, Giorgia, Spada, Marco, Turra, Renato, Bobbio, Marisa, Ciuti, Alessandro, Davico, Chiara, Vitiello, Benedetto, Mongini, Tiziana E.
Publicado 2022

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

por 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
Publicado 2012

Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients

por 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
Publicado 2019

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

por 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
Publicado 2020

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

por 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
Publicado 2012

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

Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study

por Brogna, Claudia, Pane, Marika, Coratti, Giorgia, D’Amico, Adele, Pegoraro, Elena, Bello, Luca, Sansone, Valeria Ada Maria, Albamonte, Emilio, Messina, Sonia, Pini, Antonella, D’Angelo, Maria Grazia, Bruno, Claudio, Mongini, Tiziana, Ricci, Federica Silvia, Berardinelli, Angela, Battini, Roberta, Masson, Riccardo, Bertini, Enrico Silvio, Politano, Luisa, Mercuri, Eugenio
Publicado 2023

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

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

RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing

por Falzarano, Maria S., Grilli, Andrea, Zia, Silvia, Fang, Mingyan, Rossi, Rachele, Gualandi, Francesca, Rimessi, Paola, El Dani, Reem, Fabris, Marina, Lu, Zhiyuan, Li, Wenyan, Mongini, Tiziana, Ricci, Federica, Pegoraro, Elena, Bello, Luca, Barp, Andrea, Sansone, Valeria A., Hegde, Madhuri, Roda, Barbara, Reschiglian, Pierluigi, Bicciato, Silvio, Selvatici, Rita, Ferlini, Alessandra
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