Foto del docente

Maria Lucia Valentino

Assistant professor

Department of Biomedical and Neuromotor Sciences

Academic discipline: MEDS-12/A Neurology

Publications

Montano, Vincenzo; Gruosso, Francesco; Carelli, Valerio; Comi, Giacomo Pietro; Filosto, Massimiliano; Lamperti, Costanza; Mongini, Tiziana; Musumeci, Olimpia; Servidei, Serenella; Tonin, Paola; Toscano, Antonio; Modenese, Angela; Primiano, Guido; Valentino, Maria Lucia; Bortolani, Sara; Marchet, Silvia; Meneri, Megi; Tavilla, Graziana; Siciliano, Gabriele; Mancuso, Michelangelo, Primary mitochondrial myopathy: Clinical features and outcome measures in 118 cases from Italy, «NEUROLOGY. GENETICS», 2020, 6, Article number: e519 , pp. 1 - 11 [Scientific article]Open Access

Del Dotto, Valentina; Ullah, Farid; Di Meo, Ivano; Magini, Pamela; Gusic, Mirjana; Maresca, Alessandra; Caporali, Leonardo; Palombo, Flavia; Tagliavini, Francesca; Baugh, Evan Harris; Macao, Bertil; Szilagyi, Zsolt; Peron, Camille; Gustafson, Margaret A; Khan, Kamal; La Morgia, Chiara; Barboni, Piero; Carbonelli, Michele; Valentino, Maria Lucia; Liguori, Rocco; Shashi, Vandana; Sullivan, Jennifer; Nagaraj, Shashi; El-Dairi, Mays; Iannaccone, Alessandro; Cutcutache, Ioana; Bertini, Enrico; Carrozzo, Rosalba; Emma, Francesco; Diomedi-Camassei, Francesca; Zanna, Claudia; Armstrong, Martin; Page, Matthew; Stong, Nicholas; Boesch, Sylvia; Kopajtich, Robert; Wortmann, Saskia; Sperl, Wolfgang; Davis, Erica E; Copeland, William C; Seri, Marco; Falkenberg, Maria; Prokisch, Holger; Katsanis, Nicholas; Tiranti, Valeria; Pippucci, Tommaso; Carelli, Valerio, SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder, «THE JOURNAL OF CLINICAL INVESTIGATION», 2020, 130, pp. 108 - 125 [Scientific article]Open Access

Santarelli R.; La Morgia C.; Valentino Maria Lucia; Barboni P.; Monteleone A.; Scimemi P.; Carelli V., Hearing dysfunction in a large family affected by dominant optic atrophy (OPA8-related DOA): A human model of hidden auditory neuropathy, «FRONTIERS IN NEUROSCIENCE», 2019, 13, Article number: 501 , pp. 1 - 15 [Scientific article]Open Access

Ronchi D.; Liu C.; Caporali L.; Piga D.; Li H.; Tagliavini F.; Valentino Maria Lucia; Ferro M.T.; Bini P.; Zheng L.; Carelli V.; Shen B.; Comi G.P., Novel mutations in DNA2 associated with myopathy and mtDNA instability, «ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY», 2019, 6, pp. 1893 - 1899 [Scientific article]Open Access

Gramegna, L L; Pisano, A; Testa, C; Manners, David N; D'Angelo, R; Boschetti, E; Giancola, F; Pironi, L; Caporali, L; Capristo, M; Valentino, Maria Lucia; Plazzi, G; Casali, C; Dotti, M T; Cenacchi, G; Hirano, M; Giordano, C; Parchi, P; Rinaldi, R; De Giorgio, R; Lodi, R; Carelli, V; Tonon, C, Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy, «AJNR, AMERICAN JOURNAL OF NEURORADIOLOGY», 2018, n.a., pp. N/A - N/A. [Scientific article]

Trifunov S., Pyle A., Valentino ML., Liguori R., Yu-Wai-Man P., Burté F., Duff J., Kleinle S., Diebold I., Rugolo M., Horvath R., Carelli V., Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells., «SCIENTIFIC REPORTS», 2018, 8, Article number: 11682 , pp. 1 - 10 [Scientific article]Open Access

Caporali, Leonardo; Bello, Luca; Tagliavini, Francesca; La Morgia, Chiara; Maresca, Alessandra; Di Vito, Lidia; Liguori, Rocco; Valentino, Maria Lucia; Cecchin, Diego; Pegoraro, Elena; Carelli, Valerio, DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions, «BRAIN», 2018, 141, pp. e3 - e3 [Scientific article]

Caporali, Leonardo; Iommarini, Luisa; La Morgia, Chiara; Olivieri, Anna; Achilli, Alessandro; Maresca, Alessandra; Valentino, Maria Lucia; Capristo, Mariantonietta; Tagliavini, Francesca; Del Dotto, Valentina; Zanna, Claudia; Liguori, Rocco; Barboni, Piero; Carbonelli, Michele; Cocetta, Veronica; Montopoli, Monica; Martinuzzi, Andrea; Cenacchi, Giovanna; De Michele, Giuseppe; Testa, Francesco; Nesti, Anna; Simonelli, Francesca; Porcelli, Anna Maria; Torroni, Antonio; Carelli, Valerio, Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy, «PLOS GENETICS», 2018, 14, Article number: e1007210 , pp. 1 - 18 [Scientific article]Open Access

Caporali, Leonardo; Maresca, Alessandra; Capristo, Mariantonietta; DEL DOTTO, Valentina; Tagliavini, Francesca; Valentino, MARIA LUCIA; LA MORGIA, Chiara; Carelli, Valerio, Incomplete penetrance in mitochondrial optic neuropathies, «MITOCHONDRION», 2017, 36, pp. 130 - 137 [Scientific article]

Terlizzi, Rossana; Valentino, Maria Lucia; Bartoletti-Stella, Anna; Columbaro, Marta; Piras, Silvia; Stanzani-Maserati, Michelangelo; Quadri, Marialuisa; Breedveld, Guido J.; Bonifati, Vincenzo; Martinelli, Paolo; Parchi, Piero; Capellari, Sabina, Muscle ceroid lipofuscin-like deposits in a patient with corticobasal syndrome due to a progranulin mutation, «MOVEMENT DISORDERS», 2017, 32, pp. 1259 - 1260 [Scientific article]

Orsucci, D.; Angelini, C.; Bertini, E.; Carelli, Valerio; Comi, G. P.; Federico, A.; Minetti, C.; Moggio, M.; Mongini, T.; Santorelli, F. M.; Servidei, S.; Tonin, P.; Ardissone, A.; Bello, L.; Bruno, C.; Ienco, E. Caldarazzo; Diodato, D.; Filosto, M.; Lamperti, C.; Moroni, I.; Musumeci, O.; Pegoraro, E.; Primiano, G.; Ronchi, D.; Rubegni, A.; Salvatore, S.; Sciacco, M.; Valentino, MARIA LUCIA; Vercelli, L.; Toscano, A.; Zeviani, M.; Siciliano, G.; Mancuso, M., Revisiting mitochondrial ocular myopathies: a study from the Italian Network, «JOURNAL OF NEUROLOGY», 2017, 264, pp. 1777 - 1784 [Scientific article]

Cao, Michelangelo; Donà, Marta; Valentino, Lucia; Semplicini, Claudio; Maresca, Alessandra; Cassina, Matteo; Torraco, Alessandra; Galletta, Eva; Manfioli, Valeria; Sorarù, Gianni; Carelli, Valerio; Stramare, Roberto; Bertini, Enrico; Carozzo, Rosalba; Salviati, Leonardo; Pegoraro, Elena, Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations, «NEUROGENETICS», 2016, 17, pp. 65 - 70 [Scientific article]

Carelli, Valerio; D'Adamo, Pio; Valentino, MARIA LUCIA; LA MORGIA, Chiara; Ross Cisneros, Fred N; Caporali, Leonardo; Maresca, Alessandra; Loguercio Polosa, Paola; Barboni, Piero; De Negri, Annamaria; Sadun, Federico; Karanjia, Rustum; Salomao, Solange R; Berezovsky, Adriana; Chicani, Filipe; Moraes, Milton; Moraes Filho, Milton; Belfort, Rubens; Sadun, Alfredo A., Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion, «BRAIN», 2016, 139, Article number: e17 , pp. 1 - 8 [Scientific article]

Santarelli, Rosamaria; Cama, Elona; Scimemi, Pietro; LA MORGIA, Chiara; Caporali, Leonardo; Valentino, MARIA LUCIA; Liguori, Rocco; Carelli, Valerio, Reply: Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction, «BRAIN», 2016, 139, pp. e34 - e34 [Scientific article]

Licchetta, L; Bisulli, F; Fietz, M; Valentino, M L; Morbin, M; Mostacci, B; Oliver, K L; Berkovic, S F; Tinuper, P, A Novel Mutation af Cln3 Associated with Delayed-Classic Juvenile Ceroid Lipofucinois and Autophagic Vacuolar Myopathy, «EUROPEAN JOURNAL OF MEDICAL GENETICS», 2015, 58, pp. 540 - 544 [Scientific article]

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