Diagnostic tools in late onset Pompe disease (LOPD)

por Musumeci, Olimpia, Toscano, Antonio
Publicado no Ann Transl Med (2019)

S3.1 Are there ERT defined guidelines for Pompe disease?

por Toscano, Antonio, Barca, Emanuele, Musumeci, Olimpia
Publicado em 2011

S2.3 Therapeutic approaches in the late onset form of GSD II

por Musumeci, Olimpia, Barca, Emanuele, Toscano, Antonio
Publicado em 2011

Early is better? A new algorithm for early diagnosis in Late Onset Pompe Disease (LOPD)

por TOSCANO, ANTONIO, MONTAGNESE, FEDERICA, MUSUMECI, OLIMPIA
Publicado em 2013

Multisystem late onset Pompe disease (LOPD): an update on clinical aspects

por Toscano, Antonio, Rodolico, Carmelo, Musumeci, Olimpia
Publicado no Ann Transl Med (2019)

Extension to the Heart of Metastatic Lung Cancer Presenting as Acute Neurological Syndrome: The Key Role of Echocardiography

por Falanga, Gabriella, Musumeci, Olimpia, Stilo, Cesare, Zito, Concetta
Publicado no J Cardiovasc Echogr (2014)

Favourable course in a cohort of Parkinson’s disease patients infected by SARS-CoV-2: a single-centre experience

por Buccafusca, Maria, Micali, Cristina, Autunno, Massimo, Versace, Antonio Giovanni, Nunnari, Giuseppe, Musumeci, Olimpia
Publicado no Neurol Sci (2021)

Mitochondrial Disease (MELAS Syndrome) Discovered at the Start of Pregnancy in a Patient with Advanced CKD: A Clinical and Ethical Challenge

por Santoro, Domenico, Di Bella, Gianluca, Toscano, Antonio, Musumeci, Olimpia, Buemi, Michele, Piccoli, Giorgina Barbara
Publicado no J Clin Med (2019)

A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies

por Musumeci, Olimpia, Ferlazzo, Edoardo, Rodolico, Carmelo, Gambardella, Antonio, Gagliardi, Monica, Aguglia, Umberto, Toscano, Antonio
Publicado no Front Neurol (2020)

Statin-Induced Myopathy: Translational Studies from Preclinical to Clinical Evidence

por Camerino, Giulia Maria, Tarantino, Nancy, Canfora, Ileana, De Bellis, Michela, Musumeci, Olimpia, Pierno, Sabata
Publicado no Int J Mol Sci (2021)

Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita

por Portaro, Simona, Altamura, Concetta, Licata, Norma, Camerino, Giulia M., Imbrici, Paola, Musumeci, Olimpia, Rodolico, Carmelo, Conte Camerino, Diana, Toscano, Antonio, Desaphy, Jean-François
Publicado no Neuromolecular Med (2015)

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 no Front Neurol (2018)

Late and Severe Myopathy in a Patient With Glycogenosis VII Worsened by Cyclosporine and Amiodarone

por Filosto, Massimiliano, Cotti Piccinelli, Stefano, Pichiecchio, Anna, Musumeci, Olimpia, Galvagni, Anna, Caria, Filomena, Gallo Cassarino, Serena, Baldelli, Enrico, Vitale, Raimondo, Padovani, Alessandro, Toscano, Antonio
Publicado no Front Neurol (2019)

ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic paraplegia types AR-SPG15 and AR-SPG11 have different effects on autophagy and endocytosis

por Vantaggiato, Chiara, Panzeri, Elena, Castelli, Marianna, Citterio, Andrea, Arnoldi, Alessia, Santorelli, Filippo Maria, Liguori, Rocco, Scarlato, Marina, Musumeci, Olimpia, Toscano, Antonio, Clementi, Emilio, Bassi, Maria Teresa
Publicado no Autophagy (2018)

Hippo signaling pathway is altered in Duchenne muscular dystrophy

por Vita, Gian Luca, Polito, Francesca, Oteri, Rosaria, Arrigo, Roberto, Ciranni, Anna Maria, Musumeci, Olimpia, Messina, Sonia, Rodolico, Carmelo, Di Giorgio, Rosa Maria, Vita, Giuseppe, Aguennouz, M’Hammed
Publicado no PLoS One (2018)

SARS-CoV-2 infection in patients with primary mitochondrial diseases: Features and outcomes in Italy

por Mancuso, Michelangelo, La Morgia, Chiara, Valentino, Maria Lucia, Ardissone, Anna, Lamperti, Costanza, Procopio, Elena, Garone, Caterina, Siciliano, Gabriele, Musumeci, Olimpia, Toscano, Antonio, Primiano, Guido, Servidei, Serenella, Carelli, Valerio
Publicado no Mitochondrion (2021)

Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15

por Vantaggiato, Chiara, Crimella, Claudia, Airoldi, Giovanni, Polishchuk, Roman, Bonato, Sara, Brighina, Erika, Scarlato, Marina, Musumeci, Olimpia, Toscano, Antonio, Martinuzzi, Andrea, Santorelli, Filippo Maria, Ballabio, Andrea, Bresolin, Nereo, Clementi, Emilio, Bassi, Maria Teresa
Publicado em 2013

STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa

por Gutschmidt, Kristina, Musumeci, Olimpia, Díaz-Manera, Jordi, Chien, Yin-Hsiu, Knop, Karl Christian, Wenninger, Stephan, Montagnese, Federica, Pugliese, Alessia, Tavilla, Graziana, Alonso-Pérez, Jorge, Hwu, Paul Wuh-Liang, Toscano, Antonio, Schoser, Benedikt
Publicado no J Neurol (2021)

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 no Neuromuscul Disord (2015)

Risk of Myopathy in Patients in Therapy with Statins: Identification of Biological Markers in a Pilot Study

por Camerino, Giulia M., Musumeci, Olimpia, Conte, Elena, Musaraj, Kejla, Fonzino, Adriano, Barca, Emanuele, Marino, Marco, Rodolico, Carmelo, Tricarico, Domenico, Camerino, Claudia, Carratù, Maria R., Desaphy, Jean-François, De Luca, Annamaria, Toscano, Antonio, Pierno, Sabata
Publicado no Front Pharmacol (2017)