The phenotypic expression of mitochondrial tRNA-mutations can be modulated by either mitochondrial leucyl-tRNA synthetase or the C-terminal domain thereof

by Giordano, Carla, Morea, Veronica, Perli, Elena, d’Amati, Giulia
Published 2015

Idiopathic noncirrhotic portal hypertension: current perspectives

by Riggio, Oliviero, Gioia, Stefania, Pentassuglio, Ilaria, Nicoletti, Valeria, Valente, Michele, d’Amati, Giulia
Published 2016

Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management

by Bates, Matthew G. D., Bourke, John P., Giordano, Carla, d'Amati, Giulia, Turnbull, Douglass M., Taylor, Robert W.
Published 2012

Idiopathic Non Cirrhotic Portal Hypertension and Spleno-Portal Axis Abnormalities in Patients with Severe Primary Antibody Deficiencies

by Pulvirenti, Federica, Pentassuglio, Ilaria, Milito, Cinzia, Valente, Michele, De Santis, Adriano, Conti, Valentina, d'Amati, Giulia, Riggio, Oliviero, Quinti, Isabella
Published 2014

Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model

by Brunetti, Dario, Dusi, Sabrina, Morbin, Michela, Uggetti, Andrea, Moda, Fabio, D'Amato, Ilaria, Giordano, Carla, d'Amati, Giulia, Cozzi, Anna, Levi, Sonia, Hayflick, Susan, Tiranti, Valeria
Published 2012

Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model

by Brunetti, Dario, Dusi, Sabrina, Giordano, Carla, Lamperti, Costanza, Morbin, Michela, Fugnanesi, Valeria, Marchet, Silvia, Fagiolari, Gigliola, Sibon, Ody, Moggio, Maurizio, d’Amati, Giulia, Tiranti, Valeria
Published 2014

Initial clinical experience of non-invasive treatment of Magnetic Resonance guided high intensity focused Ultrasound (MRgFUS) for focal breast cancer

by Marincola, Beatrice Cavallo, Napoli, Alessandro, Pediconi, Federica, Di Mare, Luisa, Palla, Carola, Telesca, Marianna, Miglio, Elena, Amabile, Maria Ida, Marangi, Grazia, d’Amati, Giulia, Monti, Massimo, Catalano, Carlo
Published 2014

New derivatives of the antimalarial drug Pyrimethamine in the control of melanoma tumor growth: an in vitro and in vivo study

by Tommasino, Chiara, Gambardella, Lucrezia, Buoncervello, Maria, Griffin, Roger J., Golding, Bernard T., Alberton, Manuela, Macchia, Daniele, Spada, Massimo, Cerbelli, Bruna, d’Amati, Giulia, Malorni, Walter, Gabriele, Lucia, Giammarioli, Anna Maria
Published 2016

Short peptides from leucyl-tRNA synthetase rescue disease-causing mitochondrial tRNA point mutations

by Perli, Elena, Fiorillo, Annarita, Giordano, Carla, Pisano, Annalinda, Montanari, Arianna, Grazioli, Paola, Campese, Antonio F., Di Micco, Patrizio, Tuppen, Helen A., Genovese, Ilaria, Poser, Elena, Preziuso, Carmela, Taylor, Robert W., Morea, Veronica, Colotti, Gianni, d'Amati, Giulia
Published 2016

Impaired mitochondrial biogenesis is a common feature to myocardial hypertrophy and end-stage ischemic heart failure

by Pisano, Annalinda, Cerbelli, Bruna, Perli, Elena, Pelullo, Maria, Bargelli, Valentina, Preziuso, Carmela, Mancini, Massimiliano, He, Langping, Bates, Matthew GD, Lucena, Joaquin R, Della Monica, Paola Lilla, Familiari, Giuseppe, Petrozza, Vincenzo, Nediani, Chiara, Taylor, Robert W, d’Amati, Giulia, Giordano, Carla
Published 2016

External Quality Assessment (EQA) program for the preanalytical and analytical immunohistochemical determination of HER2 in breast cancer: an experience on a regional scale

by Terrenato, Irene, Arena, Vincenzo, Pizzamiglio, Sara, Pennacchia, Ilaria, Perracchio, Letizia, Buglioni, Simonetta, Ercolani, Cristiana, Sperati, Francesca, Costarelli, Leopoldo, Bonanno, Elena, Baldini, Daniela, Candia, Silvia, Crescenzi, Anna, Dal Mas, Antonella, Di Cristofano, Claudio, Gomes, Vito, Grillo, Lucia Rosalba, Pasquini, Paola, Pericoli, Maria Nicoletta, Ramieri, Maria Teresa, Di Stefano, Domenica, Ruco, Luigi, Scarpino, Stefania, Vitolo, Domenico, d’Amati, Giulia, Paradiso, Angelo, Verderio, Paolo, Mottolese, Marcella
Published 2013

The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells

by Perli, Elena, Giordano, Carla, Pisano, Annalinda, Montanari, Arianna, Campese, Antonio F, Reyes, Aurelio, Ghezzi, Daniele, Nasca, Alessia, Tuppen, Helen A, Orlandi, Maurizia, Di Micco, Patrizio, Poser, Elena, Taylor, Robert W, Colotti, Gianni, Francisci, Silvia, Morea, Veronica, Frontali, Laura, Zeviani, Massimo, d'Amati, Giulia
Published 2014

Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration

by Brunetti, Dario, Torsvik, Janniche, Dallabona, Cristina, Teixeira, Pedro, Sztromwasser, Pawel, Fernandez‐Vizarra, Erika, Cerutti, Raffaele, Reyes, Aurelio, Preziuso, Carmela, D'Amati, Giulia, Baruffini, Enrico, Goffrini, Paola, Viscomi, Carlo, Ferrero, Ileana, Boman, Helge, Telstad, Wenche, Johansson, Stefan, Glaser, Elzbieta, Knappskog, Per M, Zeviani, Massimo, Bindoff, Laurence A
Published 2015

Efficient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy

by Giordano, Carla, Iommarini, Luisa, Giordano, Luca, Maresca, Alessandra, Pisano, Annalinda, Valentino, Maria Lucia, Caporali, Leonardo, Liguori, Rocco, Deceglie, Stefania, Roberti, Marina, Fanelli, Francesca, Fracasso, Flavio, Ross-Cisneros, Fred N., D’Adamo, Pio, Hudson, Gavin, Pyle, Angela, Yu-Wai-Man, Patrick, Chinnery, Patrick F., Zeviani, Massimo, Salomao, Solange R., Berezovsky, Adriana, Belfort, Rubens, Ventura, Dora Fix, Moraes, Milton, Moraes Filho, Milton, Barboni, Piero, Sadun, Federico, De Negri, Annamaria, Sadun, Alfredo A., Tancredi, Andrea, Mancini, Massimiliano, d’Amati, Giulia, Loguercio Polosa, Paola, Cantatore, Palmiro, Carelli, Valerio
Published 2014