Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Olimpia Musumeci"'
Autor:
Astrid Emilie Buch, Olimpia Musumeci, Ralph Wigley, Mads Peter Godtfeldt Stemmerik, Anne‐Sofie Vibæk Eisum, Karen Lindhardt Madsen, Nicolai Preisler, David Hilton‐Jones, Ros Quinlivan, Antonio Toscano, John Vissing
Publikováno v:
JIMD Reports, Vol 61, Iss 1, Pp 60-66 (2021)
Abstract Aim To investigate the in vivo skeletal muscle metabolism in patients with β‐enolase deficiency (GSDXIII) during exercise, and the effect of glucose infusion. Methods Three patients with GSDXIII and 10 healthy controls performed a nonisch
Externí odkaz:
https://doaj.org/article/8313443dd69843c1baabfa14bfbebf34
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:
Olimpia Musumeci, C. Lo Giudice, Norma Licata, Marina Fanin, Corrado Angelini, R. M. Di Giorgio, Carmelo Rodolico, Marco Ragusa, Antonio Toscano, Alba Migliorato, V. Macaione, Mohammed Aguennouz
Publikováno v:
Cell Biochemistry and Function. 34:414-422
miRNA expression profile and predicted pathways involved in selected limb-girdle muscular dystrophy (LGMD)2A/2B patients were investigated. A total of 187 miRNAs were dysregulated in all patients, with six miRNAs showing opposite regulation in LGMD2A
Autor:
Catarina M. Quinzii, Francesca Granata, L. Peverelli, Federica Montagnese, D. Nunnari, Antonio Toscano, Emanuele Barca, Salvatore DiMauro, Silvia Marino, Olimpia Musumeci
Publikováno v:
Clinical Genetics. 90:156-160
Inherited ataxias are a group of heterogeneous disorders in children or adults but their genetic definition remains still undetermined in almost half of the patients. However, CoQ10 deficiency is a rare cause of cerebellar ataxia and ADCK3 is the mos
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:
Filippo M. Santorelli, Mauro Scarpelli, Giacomo P. Comi, Maria Lucia Valentino, Serenella Servidei, Claudio Bruno, Corrado Angelini, Paola Tonin, Isabella Moroni, Tiziana Mongini, Michelangelo Mancuso, Costanza Lamperti, Elena Caldarazzo Ienco, Massimo Zeviani, Gabriele Siciliano, Liliana Vercelli, Graziella Uziel, Maurizio Moggio, Carlo Minetti, Daniele Orsucci, Enrico Bertini, Claudia Nesti, Elena Pegoraro, Guido Primiano, Michela Catteruccia, Olimpia Musumeci, Massimiliano Filosto, Antonio Toscano, Valerio Carelli
Publikováno v:
Movement Disorders. 29:722-728
Myoclonus is a possible manifestation of mitochondrial disorders, and its presence is considered, in association with epilepsy and the ragged red fibers, pivotal for the syndromic diagnosis of MERRF (myoclonic epilepsy with ragged red fibers). Howeve
Autor:
Paolo Bonanni, Sara Bonato, M. T. Bassi, G. Meola, M. Rossetto, G. Paparella, A. Toscano, V. Casanova, Nereo Bresolin, Andrea Martinuzzi, Claudia Crimella, Francesca Peruch, Alessia Arnoldi, Erika Tenderini, Olimpia Musumeci, Marianna Fantin, Grazia D'Angelo, Giacomo P. Comi
Publikováno v:
Annals of Neurology. 70:S4-S79
Autor:
Maurizio Moggio, Alba Migliorato, Federica Montagnese, Simona Portaro, Carmelo Rodolico, Gigliola Fagiolari, Olimpia Musumeci
Publikováno v:
Muscle & Nerve. 51:934-935
Autor:
Olimpia Musumeci, Corrado Messina, A Ferlini, B Giometto, Gianluca Vita, M Laurà, Massimo Autunno, Anna Mazzeo
Publikováno v:
Journal of the Peripheral Nervous System. 9:121-122
Objective: To describe an atypical immunoreactivity against Purkinje cells and glia of rat cerebellum in a case of transthyretin (TTR)-related familial amyloid polyneuropathy (FAP). Background: TTR-FAP is an autosomal dominant disease, usually presen