Pharmacotherapy of the Lipid-Lowering Drugs: Update on Efficacy and Risk

por Pierno, Sabata, Musumeci, Olimpia
Publicado 2023

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

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

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

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

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

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

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 2014

Statins Neuromuscular Adverse Effects

por Attardo, Silvia, Musumeci, Olimpia, Velardo, Daniele, Toscano, Antonio
Publicado 2022

Molecular Genetics Overview of Primary Mitochondrial Myopathies

por Arena, Ignazio Giuseppe, Pugliese, Alessia, Volta, Sara, Toscano, Antonio, Musumeci, Olimpia
Publicado 2022

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 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 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 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 2021

Case Report: Thymidine Kinase 2 (TK2) Deficiency: A Novel Mutation Associated With Childhood-Onset Mitochondrial Myopathy and Atypical Progression

por Manini, Arianna, Meneri, Megi, Rodolico, Carmelo, Corti, Stefania, Toscano, Antonio, Comi, Giacomo Pietro, Musumeci, Olimpia, Ronchi, Dario
Publicado 2022

Diagnostic Challenges in Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency: Clinical, Morphological, and Genetic Aspects

por Lupica, Antonino, Oteri, Rosaria, Volta, Sara, Ghezzi, Daniele, Drago, Selene Francesca Anna, Rodolico, Carmelo, Musumeci, Olimpia, Toscano, Antonio
Publicado 2022

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 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 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 2019

Case Report: Rare Homozygous RNASEH1 Mutations Associated With Adult-Onset Mitochondrial Encephalomyopathy and Multiple Mitochondrial DNA Deletions

por Manini, Arianna, Caporali, Leonardo, Meneri, Megi, Zanotti, Simona, Piga, Daniela, Arena, Ignazio Giuseppe, Corti, Stefania, Toscano, Antonio, Comi, Giacomo Pietro, Musumeci, Olimpia, Carelli, Valerio, Ronchi, Dario
Publicado 2022

Paraneoplastic neurological syndromes of the central nervous system: a single institution 7-year case series

por Giammello, Fabrizio, Galletta, Karol, Grillo, Francesco, Brizzi, Teresa, Cavallaro, Marco, Mormina, Enricomaria, Scelzo, Emma, Allegra, Cosimo, Stancanelli, Claudia, Rodolico, Carmelo, Musumeci, Olimpia, Toscano, Antonio, Granata, Francesca
Publicado 2023

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 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 2021