VALENTINO, MARIA LUCIA

VALENTINO, MARIA LUCIA  

DIPARTIMENTO DI SCIENZE BIOMEDICHE E NEUROMOTORIE  

Ricercatori  

Lucia M. Valentino; Valentino, Lucia  

Risultati 1 - 20 di 93 (tempo di esecuzione: 0.011 secondi).
Titolo Autore(i) Anno Periodico Editore Tipo File
A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16. Carelli V.; Schimpf S.; Fuhrmann N.; Valentino M.L.; Zanna C.; Iommarini L.; Papke M.; Schaich S.; Tippmann S.; Baumann B.; Barboni P.; Longanesi L.; Rugolo M.; Ghelli A.; Alavi M.V.; Youle R.J.; Bucchi L.; Carroccia R.; Giannoccaro M.P.; Tonon C.; Lodi R.; Cenacchi G.; Montagna P.; Liguori R.; Wissinger B. 2011-01-01 HUMAN MOLECULAR GENETICS - 1.01 Articolo in rivista -
A new case of Sando syndrome and retinitis pigmentosa with novel combination of compound heterozygous POLG mutations. Bellan M.; Avoni P.; Liguori R.; Carroccia R.; Valentino M.L.; Villanova M.; La Morgia C.; Fulitano D.; Baruzzi A.; Lodi R.; Tonon C.; Lamantea E.; Zeviani M.; Carelli V. 2006-01-01 NEUROLOGICAL SCIENCES - 4.02 Riassunto (Abstract) -
Acute rhabdomyolysis induced by tonic-clonic epileptic seizures in a patient with glucose-6-phosphate dehydrogenase deficiency. R. Liguori;M. P. Giannoccaro;E. Pasini;P. Riguzzi;M. L. Valentino;G. P. Comi;V. Carelli;N. Bresolin;R. Michelucci 2013-01-01 JOURNAL OF NEUROLOGY - 1.04 Replica / breve intervento (e simili) -
Adult-onset mitochondrial movement disorders: a national picture from the Italian Network Montano, V; Orsucci, D; Carelli, V; La Morgia, C; Valentino, M L; Lamperti, C; Marchet, S; Musumeci, O; Toscano, A; Primiano, G; Santorelli, F M; Ticci, C; Filosto, M; Rubegni, A; Mongini, T; Tonin, P; Servidei, S; Ceravolo, R; Siciliano, G; Mancuso, Michelangelo 2022-01-01 JOURNAL OF NEUROLOGY - 1.01 Articolo in rivista Montano2022_Article_Adult-onsetMitochondrialMoveme.pdf415_2021_10697_MOESM1_ESM.doc
Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE Hirano, M.; Martí, R.; Casali, C.; Tadesse, S.; Uldrick, T.; Fine, B.; Escolar, D.M.; Valentino, M.L.; Nishino, I.; Hesdorffer, C.; Schwartz, J.; Hawks, R.G.; Martone, D.L.; Cairo, M.S.; Dimauro, S.; Stanzani, M.; J.H., Garvin Jr.; Savage, D.G. 2006-01-01 NEUROLOGY - 1.01 Articolo in rivista -
An inflammatory myopathy unmasks a case of leprosy in an Italian patient Liguori, R.; Terlizzi, R.; Giannoccaro, M.P.; Amati, A.; Foschini, M.P.; Parodi, A.; Valentino, M.L. 2015-01-01 JOURNAL OF NEUROLOGY - 1.04 Replica / breve intervento (e simili) -
Anti-cN1A antibodies are associated with more severe dysphagia in sporadic inclusion body myositis Lucchini M.; Maggi L.; Pegoraro E.; Filosto M.; Rodolico C.; Antonini G.; Garibaldi M.; Valentino M.L.; Siciliano G.; Tasca G.; De Arcangelis V.; De Fino C.; Mirabella M. 2021-01-01 CELLS - 1.01 Articolo in rivista -
Assessing heteroplasmic load in Leber's hereditary optic neuropathy mutation 3460G->A/MT-ND1 with a real-time PCR quantitative approach. Genasetti A.; Valentino M.L.; Carelli V.; Vigetti D.; Viola M.; Karousou E.G.; Melzi d'Eril G.V.; De Luca G.; Passi A.; Pallotti F. 2007-01-01 THE JOURNAL OF MOLECULAR DIAGNOSTICS - 1.01 Articolo in rivista -
Association of optic disc size with development and prognosis of Leber's hereditary optic neuropathy. do V.F. Ramos .C.; Bellusci C.; Savini G.; Carbonelli M.; Berezovsky A.; Tamaki C.; Cinoto R.; Sacai P.Y.; Moraes-Filho M.N.; Miura H.M.; Valentino M.L.; Iommarini L.; De Negri A.M.; Sadun F.; Cortelli P.; Montagna P.; Salomao S.R.; Sadun A.A.; Carelli V.; Barboni P. 2009-01-01 INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE - 1.01 Articolo in rivista -
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy Caporali L.; Magri S.; Legati A.; Del Dotto V.; Tagliavini F.; Balistreri F.; Nasca A.; La Morgia C.; Carbonelli M.; Valentino M.L.; Lamantea E.; Baratta S.; Schols L.; Schule R.; Barboni P.; Cascavilla M.L.; Maresca A.; Capristo M.; Ardissone A.; Pareyson D.; Cammarata G.; Melzi L.; Zeviani M.; Peverelli L.; Lamperti C.; Marzoli S.B.; Fang M.; Synofzik M.; Ghezzi D.; Carelli V.; Taroni F. 2020-01-01 ANNALS OF NEUROLOGY - 1.01 Articolo in rivista ana.25723.pdf
BAG3-related myofibrillar myopathy: a further observation with cardiomyopathy at onset in pediatric age Scarpini G.; Valentino M.L.; Giannotta M.; Ragni L.; Torella A.; Columbaro M.; Nigro V.; Pini A. 2021-01-01 ACTA MYOLOGICA - 1.01 Articolo in rivista -
Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993 Baracca A; Sgarbi G; Mattiazzi M; Casalena G; Pagnotta E; Valentino ML; Moggio M; Lenaz G; Carelli V; Solaini G. 2007-01-01 BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS - 1.01 Articolo in rivista -
Brain diffusion-weighted imaging in Friedreich's ataxia. Rizzo G.; Tonon C.; Valentino M.L.; Manners D.; Fortuna F.; Gellera C.; Pini A.; Ghezzo A.; Baruzzi A.; Testa C.; Malucelli E.; Barbiroli B.; Carelli V.; Lodi R. 2011-01-01 MOVEMENT DISORDERS - 1.01 Articolo in rivista -
Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS-associated mtDNA mutations Gramegna, Laura L; Evangelisti, Stefania; Di Vito, Lidia; La Morgia, Chiara; Maresca, Alessandra; Caporali, Leonardo; Amore, Giulia; Talozzi, Lia; Bianchini, Claudio; Testa, Claudia; Manners, David N; Cortesi, Irene; Valentino, Maria L; Liguori, Rocco; Carelli, Valerio; Tonon, Caterina; Lodi, Raffaele 2021-01-01 ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY - 1.01 Articolo in rivista -
Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome La Morgia, Chiara; Maresca, Alessandra; Amore, Giulia; Gramegna, Laura Ludovica; Carbonelli, Michele; Scimonelli, Emanuela; Danese, Alberto; Patergnani, Simone; Caporali, Leonardo; Tagliavini, Francesca; Del Dotto, Valentina; Capristo, Mariantonietta; Sadun, Federico; Barboni, Piero; Savini, Giacomo; Evangelisti, Stefania; Bianchini, Claudio; Valentino, Maria Lucia; Liguori, Rocco; Tonon, Caterina; Giorgi, Carlotta; Pinton, Paolo; Lodi, Raffaele; Carelli, Valerio 2020-01-01 SCIENTIFIC REPORTS - 1.01 Articolo in rivista Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome.pdf41598_2020_61735_MOESM1_ESM.docx
Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy 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 2018-01-01 AJNR, AMERICAN JOURNAL OF NEURORADIOLOGY - 1.01 Articolo in rivista -
Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways Giordano, L; Deceglie, S; D'Adamo, P; Valentino, M L; La Morgia, C; Fracasso, F; Roberti, M; Cappellari, M; Petrosillo, G; Ciaravolo, S; Parente, D; Giordano, C; Maresca, A; Iommarini, L; Del Dotto, V; Ghelli, A M; Salomao, S R; Berezovsky, A; Belfort, R; Sadun, A A; Carelli, V; Loguercio Polosa, P; Cantatore, P 2015-01-01 CELL DEATH & DISEASE - 1.01 Articolo in rivista Cigarette toxicity triggers Leber's hereditary optic neuropathy.pdfSupplementary information.zip
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations 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 2016-01-01 NEUROGENETICS - 1.01 Articolo in rivista -
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. Hudson G.; Carelli V.; Spruijt L.; Gerards M.; Mowbray C.; Achilli A.; Pyle A.; Elson J.; Howell N.; La Morgia C.; Valentino M.L.; Huoponen K.; Savontaus M.L.; Nikoskelainen E.; Sadun A.A.; Salomao S.R.; Belfort R. Jr; Griffiths P.; Man P.Y.; de Coo R.F.; Horvath R.; Zeviani M.; Smeets H.J.; Torroni A.; Chinnery P.F. 2007-01-01 AMERICAN JOURNAL OF HUMAN GENETICS - 1.01 Articolo in rivista -
Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells. 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. 2018-01-01 SCIENTIFIC REPORTS - 1.01 Articolo in rivista Trifunov SciRep 2018ms.pdf