MUSUMECI, Olimpia

MUSUMECI, Olimpia  

Dipartimento di Medicina Clinica e Sperimentale  

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Titolo Data di pubblicazione Autore(i) File
"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network 1-gen-2016 Mancuso, Michelangelo; Orsucci, Daniele; Angelini, Corrado; Bertini, Enrico; Carelli, Valerio; Comi, Giacomo Pietro; Federico, Antonio; Minetti, Carlo; Moggio, Maurizio; Mongini, Tiziana; Tonin, Paola; Toscano, Antonio; Bruno, Claudio; Ienco, Elena Caldarazzo; Filosto, Massimiliano; Lamperti, Costanza; Diodato, Daria; Moroni, Isabella; Musumeci, Olimpia; Pegoraro, Elena; Spinazzi, Marco; Ahmed, Naghia; Sciacco, Monica; Vercelli, Liliana; Ardissone, Anna; Zeviani, Massimo; Siciliano, Gabriele
104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07) 1-gen-2024 Schoser, Benedikt; Kishnani, Priya S; Bratkovic, Drago; Byrne, Barry J; Claeys, Kristl G; Díaz-Manera, Jordi; Laforêt, Pascal; Roberts, Mark; Toscano, Antonio; van der Ploeg, Ans T; Castelli, Jeff; Goldman, Mitchell; Holdbrook, Fred; Sitaraman Das, Sheela; Wasfi, Yasmine; Mozaffar, Tahseen; Musumeci, O
A benign case of congenital myotonic dystrophy 1-gen-1998 Musumeci, Olimpia; Toscano, Antonio; Condorelli, D; Trovato Salinaro, A; Spinella, F; Cordaro, S; Bonsignore, M; Vita, G.
A cytochemical study of apoptosis in metabolic myopathies 1-gen-1997 Monici, Mc; Migliorato, A; Toscano, Antonio; Musumeci, Olimpia; Aguennouz, M'Hammed; Vita, G.
A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies 1-gen-2020 Musumeci, O.; Ferlazzo, E.; Rodolico, C.; Gambardella, A.; Gagliardi, M.; Aguglia, U.; Toscano, A.
A genetic modifier of symptom onset in Pompe disease 1-gen-2019 Bergsma, Atze J.; in 't Groen, Stijn L. M.; van den Dorpel, Jan J. A.; van den Hout, Hannerieke J. M. P.; van der Beek, Nadine A. M. E.; Schoser, Benedikt; Toscano, Antonio; Musumeci, Olimpia; Bembi, Bruno; Dardis, Andrea; Morrone, Amelia; Tummolo, Albina; Pasquini, Elisabetta; van der Ploeg, Ans T.; Pijnappel, W. W. M. Pim
A life threatening case of β-enolase deficiency 1-gen-2009 Musumeci, Olimpia; Rodolico, Carmelo; Barca, Emanuele; Aguennouz, M'Hammed; Lanzano, N.; Ciranni, A.; Vita, G.; Toscano, Antonio
A mobile app for patients with Pompe disease and its possible clinical applications 1-gen-2018 Ricci, Giulia; Baldanzi, Sigrid; Seidita, Fabrizio; Proietti, Chiara; Carlini, Francesca; Peviani, Silvia; Antonini, Giovanni; Vianello, Andrea; Siciliano, Gabriele; Musumeci, O.; Toscano, A.; Ravaglia, S.; Moggio, M.; Comi, G.; Pegoraro, E.; Filosto, M.; Marrosu, G.; Maggi, L.; Liguori, R.; Massa, R.; Di Iorio, G.; Servidei, S.; Angelini, C.; Mongini, T.
A MRI evaluation of respiratory function in patients with the late onset form of Pompe disease 1-gen-2012 Musumeci, Olimpia; Gaeta, Michele; Barca, Emanuele; Mileto, A; Toscano, Antonio
A new phenotype of muscle glycogen synthase deficiency (GSD0B) characterized by an adult onset myopathy without cardiomyopathy 1-gen-2022 Musumeci, Olimpia; Pugliese, Alessia; Oteri, Rosaria; Volta, Sara; Ciranni, Anna; Moggio, Maurizio; Rodolico, Carmelo; Toscano, Antonio
A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease. 1-gen-2000 Fernández, R; Navarro, C; Andreu, Al; Bruno, C; Shanske, S; Gámez, J; Teijeira, S; Hernández, I; Teijeiro, A; Fernández, Jm; Musumeci, Olimpia; Dimauro, S.
A novel mithocondrial tRNAHys point mutation in a patient with PSP-like phenotype. 1-gen-2012 Romeo, S; Morgante, Francesca; Ciranni, A; Montagnese, F; Vita, G; Toscano, Antonio; Musumeci, Olimpia
A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy. 1-gen-2011 Musumeci, Olimpia; Bassi, M. T.; Mazzeo, Anna; Grandis, M.; Crimella, C.; Martinuzzi, A.; Toscano, Antonio
A NOVEL MUTATION IN KIF5A GENE CAUSING HEREDITARY SPASTIC PARAPLEGIA WITH AXONAL NEUROPATHY; 1-gen-2009 Musumeci, Olimpia; Toscano, Antonio; Mazzeo, A.; Rossetto, Mg; Martinuzzi, A; Bassi, Mt
A novel mutation in the mitochondrial DNA transfer ribonucleic acidAsp gene in a child with myoclonic epilepsy and psychomotor regression. 1-gen-1999 Shtilbans, A; El Schahawi, M; Malkin, E; Shanske, S; Musumeci, Olimpia; Dimauro, S.
A study of auditory system in 20 patients with late onset Pompe disease 1-gen-2011 Musumeci, Olimpia; Catalano, N.; Barca, Emanuele; Ravaglia, S.; Gangemi, G.; Fiumara, A.; Sorge, G.; Galletti, Bruno; Galletti, Francesco; Toscano, Antonio
About the physiopathological mechanism of statin myopathy: evidence of a diffuse reduction of CoQ10 levels in skeletal muscle. 1-gen-2005 Toscano, Antonio; Mongini, T; Musumeci, Olimpia; Rodolico, Carmelo; Marena, S; Vercelli, L; Anatrone, K; Palmucci, L.; Vita, G.
Acute parkinsonism as first manifestation of systemic lupus erythematosus unmasked by CMV infection. 1-gen-2014 Marino M; Morgante F; Montagnese F; Toscano A; Musumeci O.
Adult-onset mitochondrial movement disorders: a national picture from the Italian Network 1-gen-2021 Montano, V; Orsucci, D; Carelli, V; La Morgia, C; Valentino, Ml; Lamperti, C; Marchet, S; Musumeci, O; Toscano, A; Primiano, G; Santorelli, Fm; Ticci, C; Filosto, M; Rubegni, A; Mongini, T; Tonin, P; Servidei, S; Ceravolo, R; Siciliano, G; Mancuso, M
Amyloid myopathy presenting with rhabdomyolisis: evidence of complement activation. 1-gen-2006 Rodolico, Carmelo; Musumeci, Olimpia; Toscano, Antonio; Mazzeo, Anna; Pastura, C; Maimone, D; Vita, Giuseppe