Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Olimpia Musumeci"'
SARS-CoV-2 infection in patients with primary mitochondrial diseases: Features and outcomes in Italy
Autor:
Anna Ardissone, Serenella Servidei, Olimpia Musumeci, Valerio Carelli, Chiara La Morgia, Maria Lucia Valentino, Michelangelo Mancuso, Caterina Garone, Guido Primiano, Costanza Lamperti, Gabriele Siciliano, Antonio Toscano, Elena Procopio
Publikováno v:
Mitochondrion
Patients with mitochondrial diseases, who usually manifest a multisystem disease, are considered potentially at-risk for a severe coronavirus disease 2019 (COVID-19). The objective of this study is to analyze the clinical features, prognosis and outc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8d85345e9516802279ca093deccf71b
http://hdl.handle.net/11570/3203995
http://hdl.handle.net/11570/3203995
Autor:
Guja Astrea, Roberta Battini, Alessandro Filla, Salvatore Rossi, Vittorio Riso, Marina Melone, Gioacchino Tedeschi, Antonella Antenora, Carlo Casali, Rosanna Trovato, Elena Pegoraro, Gabriella Silvestri, Filippo M. Santorelli, Melissa Barghigiani, Antonio Petrucci, Serena Galosi, Tommasina Fico, Andrea Mignarri, Caterina Caputi, Chiara Fiorillo, Maria Lieto, Alessandro Malandrini, Arianna Scarlatti, Maria Teresa Dotti, Olimpia Musumeci, Ettore Cioffi, Ivana Ricca, Gemma Natale, Francesca Tinelli, Giovanna De Michele, Alessandra Tessa, Carla Battisti, Anna Rubegni, Daniele Galatolo, Vincenzo Leuzzi, Giuseppe De Michele
Publikováno v:
International Journal of Molecular Sciences
Volume 22
Issue 16
International Journal of Molecular Sciences, Vol 22, Iss 8490, p 8490 (2021)
Volume 22
Issue 16
International Journal of Molecular Sciences, Vol 22, Iss 8490, p 8490 (2021)
The term hereditary ataxia (HA) refers to a heterogeneous group of neurological disorders with multiple genetic etiologies and a wide spectrum of ataxia-dominated phenotypes. Massive gene analysis in next-generation sequencing has entered the HA scen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec9f44e42b5a09a7cec95d783a0577c0
http://hdl.handle.net/11577/3398514
http://hdl.handle.net/11577/3398514
Autor:
Massimo Autunno, Cristina Micali, Olimpia Musumeci, Maria Buccafusca, Giuseppe Nunnari, Antonio Giovanni Versace
Publikováno v:
Neurological Sciences
The COVID-19 outbreak has had a dramatic impact on the healthcare system due to the rapid, worldwide spread of the virus, highlighting several considerations on the best management of infected patients and also potential risks and prognostic factors
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02e02243e5a657736f5d0a919237f4c1
https://hdl.handle.net/20.500.11769/552219
https://hdl.handle.net/20.500.11769/552219
Autor:
Daniele Orsucci, Filippo M. Santorelli, Lorenzo Peverelli, Anna Ardissone, Chiara Ticci, Paola Tonin, Lidia Di Vito, Isabella Moroni, Costanza Lamperti, Gabriele Siciliano, Michelangelo Mancuso, Costanza Simoncini, Federico Sicca, Daria Diodato, Enrico Bertini, Massimiliano Filosto, Diego Martinelli, Serenella Servidei, Guido Primiano, Antonio Toscano, Olimpia Musumeci, Elia Pancheri, Anna Rubegni, Valerio Carelli, Chiara La Morgia
Many aspects of epilepsy in mitochondrial disorders (MDs) need to be further clarified. To this aim, we explored retrospectively a cohort of individuals with MDs querying the “Nationwide Italian Collaborative Network of Mitochondrial Diseases” (N
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb87d78a1ecf362df3c0e3e78ae4a0b2
http://hdl.handle.net/10807/148760
http://hdl.handle.net/10807/148760
Autor:
Rosa Morabito, Olimpia Musumeci, V. Lo Buono, S. Marino, F. Granata, Francesco Corallo, Lilla Bonanno, M. Longo, Antonio Toscano, Teresa Brizzi
Background and purpose Late-onset Pompe disease (LOPD) is a rare, multisystem disorder that is well established to mainly impair skeletal muscle function. Systematic studies exploring brain functions in LOPD are lacking. The aim of this study was to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1125b7d0ec07c08a2484ac79ab6a131
http://hdl.handle.net/11570/3133831
http://hdl.handle.net/11570/3133831
Autor:
Tiziana Mongini, Costanza Lamperti, Massimiliano Filosto, Filippo M. Santorelli, Anna Rubegni, Costanza Simoncini, Alessandro Padovani, Paola Tonin, Valerio Carelli, Stefano Cotti Piccinelli, Giacomo P. Comi, Guido Primiano, Maurizio Moggio, Michelangelo Mancuso, Gabriele Siciliano, Antonio Toscano, Serenella Servidei, Olimpia Musumeci, Anna Galvagni, Liliana Vercelli
Muscle pain may be part of many neuromuscular disorders including myopathies, peripheral neuropathies and lower motor neuron diseases. Although it has been reported also in mitochondrial diseases (MD), no extensive studies in this group of diseases h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53cf05375f567126f1b1627dc8bf97ba
http://hdl.handle.net/11570/3134824
http://hdl.handle.net/11570/3134824
Autor:
Federica Montagnese, Maria Cucinotta, Stefania Mondello, Francesca Granata, Carmelo Rodolico, Anna Ciranni, Marcello Longo, Antonio Toscano, Emanuele Barca, Olimpia Musumeci
Publikováno v:
Journal of Inherited Metabolic Disease. 39:391-398
Pompe disease is a rare metabolic disorder due to lysosomal alpha-glucosidase (GAA) deficiency. It is considered as a multi-systemic disease since, although glycogen accumulation is largely prominent in heart, skeletal and respiratory muscles, other
Autor:
Stefano C. Previtali, Michela Ripolone, Corrado Angelini, Paola Tonin, Antonio Toscano, Dario Ronchi, Lucia Morandi, Olimpia Musumeci, Massimiliano Filosto, Gigliola Fagiolari, Tiziana Mongini, Giacomo P. Comi, Simona Saredi, A. C. Nascimbeni, Raffaella Violano, Andreina Bordoni, Francesco Fortunato, Marco Sandri, M. Sciacco, Valeria Lucchini, Irene Colombo, Stefania Mondello, Maurizio Moggio, Marina Mora
Aims Pompe disease is an autosomal recessive lysosomal storage disorder resulting from deficiency of acid α-glucosidase (GAA) enzyme. Histopathological hallmarks in skeletal muscle tissue are fiber vacuolization and autophagy. Since 2006, ERT is the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d0302e959724cbb43da5ca700e43eaa
http://hdl.handle.net/11562/983750
http://hdl.handle.net/11562/983750
Autor:
Simone Sampaolo, Claudio Semplicini, Olimpia Farina, Arcomaria Garofalo, Giacomo P. Comi, Giuseppe Di Iorio, Claudio Bruno, Guja Astrea, Filippo M. Santorelli, Giuseppina Di Fruscio, Gaia Esposito, Carlo Minetti, Marina Fanin, Francesca Magri, Corrado Angelini, Maurizio Moggio, Luisa Politano, Bjarne Udd, Ester Picillo, L. Passamano, Elena Pegoraro, Vincenzo Nigro, Chiara Fiorillo, Manuela Ergoli, Teresa Giugliano, Antonio Toscano, Annalaura Torella, Olimpia Musumeci, Giulio Piluso, Luca Bello, Marco Savarese
Mutations in the GAA gene may cause a late onset Pompe disease presenting with proximal weakness without the characteristic muscle pathology, and therefore a test for GAA activity is the first tier analysis in all undiagnosed patients with hyperCKemi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f492b218fc9723b003f4d88cec001eed
http://hdl.handle.net/11577/3275182
http://hdl.handle.net/11577/3275182
Autor:
Marina Mora, Claudio Bruno, Gabriele Siciliano, Carlo Minetti, Francesca Magri, Mauro Monforte, Giacomo P. Comi, Giorgio Tasca, Claudio Semplicini, Roberta Brusa, Corrado Angelini, S. Gandossini, Maurizio Moggio, Marco Savarese, Elena Pegoraro, Tiziana Mongini, Stefania Corti, Enzo Ricci, Vincenzo Nigro, Giulia Ricci, Alessandra Govoni, Giuseppina Di Fruscio, Chiara Fiorillo, Monica Sciacco, Nereo Bresolin, Roberto Del Bo, Antonio Toscano, Maria Grazia D'Angelo, Giuliano Tomelleri, Isabella Moroni, Lucia Morandi, Olimpia Musumeci, Dario Ronchi
Introduction Limb girdle muscular dystrophies (LGMDs) are characterized by high molecular heterogeneity, clinical overlap, and a paucity of specific biomarkers. However, their molecular definition is fundamental for prognostic and therapeutic purpose
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d518defd40f6137069fdf4f19752fff
http://hdl.handle.net/11591/369008
http://hdl.handle.net/11591/369008