Pennisi, Elena Maria - Resultats de la cerca - Dipòsit Digital de Documents de la UAB

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Resultats globals: 2 registres trobats en 0.02 segons.
Articles, 2 registres trobats

Articles	2 registres trobats

12 p, 2.9 MB

Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1) : Refining muscle involvement and implications for clinical trials / Garibaldi, Matteo (Sant'Andrea Hospital) ; Nicoletti, Tommaso (Università Cattolica del Sacro Cuore) ; Bucci, Elisabetta (Sant'Andrea Hospital) ; Fionda, Laura (Sant'Andrea Hospital. Sapienza University of Rome) ; Leonardi, Luca (Sant'Andrea Hospital) ; Morino, Stefania (Sant'Andrea Hospital) ; Tufano, Laura (Sant'Andrea Hospital) ; Alfieri, Girolamo (Sant'Andrea Hospital) ; Lauletta, Antonio (Sant'Andrea Hospital) ; Merlonghi, Gioia (Sant'Andrea Hospital) ; Perna, Alessia (Università Cattolica del Sacro Cuore) ; Rossi, Salvatore (Università Cattolica del Sacro Cuore) ; Ricci, Enzo (Università Cattolica del Sacro Cuore) ; Alonso-Pérez, Jorge (Institut d'Investigació Biomèdica Sant Pau) ; Tartaglione, Tommaso (Istituto Dermopatico dell'Immacolata) ; Petrucci, Antonio (San Camillo Forlanini Hospital) ; Pennisi, Elena Maria (San Filippo Neri Hospital) ; Salvetti, Marco (IRCCS Istituto Neurologico Mediterraneo (INM) Neuromed) ; Cutter, Gary (University of Alabama at Birmingham) ; Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Silvestri, Gabriella (Università Cattolica del Sacro Cuore) ; Antonini, Giovanni (Sant'Andrea Hospital)
Only a few studies have reported muscle imaging data on small cohorts of patients with myotonic dystrophy type 1 (DM1). We aimed to investigate the muscle involvement in a large cohort of patients in order to refine the pattern of muscle involvement, to better understand the pathophysiological mechanisms of muscle weakness, and to identify potential imaging biomarkers for disease activity and severity. [...]
2021 - DOI (Digital Object Identifier)

10.1111/ene.15174
European Journal of Neurology, Vol. 29 (december 2021) , p. 843-854

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9 p, 1.1 MB

Muscle MRI in neutral lipid storage disease (NLSD) / Garibaldi, Matteo ('Sapienza' University of Rome) ; Tasca, Giorgio (Policlinico "A.Gemelli" Foundation University Hospital, Rome) ; Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Ottaviani, Pierfancesco (Istituto Dermopatico dell'Immacolata, Rome) ; Laschena, Francesco (Istituto Dermopatico dell'Immacolata, Rome) ; Pantoli, Donatella (San Filippo Neri Hospital, Rome) ; Gerevini, Simonetta (Istituto di Ricovero e Cura A Carattere Scientifico (IRCCS)) ; Fiorillo, Chiara (Istituto Giannina Gaslini, Genoa) ; Maggi, Lorenzo (Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan) ; Tasca, Elisabetta (IRCCS S.Camillo, Lido di Venezia, Italy) ; D'Amico, Adele (Ospedale Pediatrico Bambino Gesù (Roma, Itàlia)) ; Musumeci, Olimpia (University of Messina) ; Toscano, Antonio (University of Messina) ; Bruno, Claudio (Istituto Giannina Gaslini, Genoa) ; Massa, Roberto (University of Rome Tor Vergata) ; Angelini, Corrado (IRCCS S.Camillo, Lido di Venezia) ; Bertini, Enrico (Ospedale Pediatrico Bambino Gesù (Roma, Itàlia)) ; Antonini, Giovanni ('Sapienza' University of Rome) ; Pennisi, Elena Maria (San Filippo Neri Hospital, Rome) ; Universitat Autònoma de Barcelona
Neutral lipid storage disease (NLSD) is a rare inherited disorder of lipid metabolism resulting in lipid droplets accumulation in different tissues. Skeletal muscle could be affected in both two different form of disease: NLSD with myopathy (NLSD-M) and NLSD with ichthyosis (NLSD-I). [...]
2017 - DOI (Digital Object Identifier)

10.1007/s00415-017-8498-8
Journal of Neurology, Vol. 264 (may 2017) , p. 1334-1342

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