MARESCA, ALESSANDRA

MARESCA, ALESSANDRA  

DIPARTIMENTO DI SCIENZE BIOMEDICHE E NEUROMOTORIE  

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Risultati 1 - 20 di 58 (tempo di esecuzione: 0.03 secondi).
Titolo Autore(i) Anno Periodico Editore Tipo File
A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance. Carossa V;Ghelli A;Tropeano CV;Valentino ML;Iommarini L;Maresca A;Caporali L;Morgia CL;Liguori R;...Barboni P;Carbonelli M;Rizzo G;Tonon C;Lodi R;Martinuzzi A;Nardo VD;Rugolo M;Ferretti L;Gandini F;Pala M;Achilli A;Olivieri A;Torroni A;Carelli V 2014-01-01 HUMAN MUTATION - 1.01 Articolo in rivista -
A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy. T. Pippucci; A. Parmeggiani; F. Palombo; A. Maresca; A. Angius;
L. Crisponi; F. Cucca; R. Liguor...
i; M. L. Valentino; M. Seri; V. Carelli
2013-01-01 PLOS ONE - 1.01 Articolo in rivista journal.pone.0082154.PDF
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder. Cameli C, Viggiano M, Rochat MJ, Maresca A, Caporali L, Fiorini C, Palombo F, Magini P, Duardo RC..., Ceroni F, Scaduto MC, Posar A, Seri M, Carelli V, Visconti P, Bacchelli E, Maestrini E. 2021-01-01 JOURNAL OF CELLULAR AND MOLECULAR MEDICINE - 1.01 Articolo in rivista jcmm.16161.pdf
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
Author Correction: Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome (Scientific Reports, (2020), 10, 1, (4785), 10.1038/s41598-020-61735-3) La Morgia C.; Maresca A.; Amore G.; Gramegna L.L.; Carbonelli M.; Scimonelli E.; Danese A.; Pater...gnani S.; Caporali L.; Tagliavini F.; Del Dotto V.; Capristo M.; Sadun F.; Barboni P.; Savini G.; Evangelisti S.; Bianchini C.; Valentino M.L.; Liguori R.; Tonon C.; Giorgi C.; Pinton P.; Lodi R.; Carelli V. 2020-01-01 SCIENTIFIC REPORTS - 1.01 Articolo in rivista -
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy Bonora, Elena; Chakrabarty, Sanjiban; Kellaris, Georgios; Tsutsumi, Makiko; Bianco, Francesca; Be...rgamini, Christian; Ullah, Farid; Isidori, Federica; Liparulo, Irene; Diquigiovanni, Chiara; Masin, Luca; Rizzardi, Nicola; Cratere, Mariapia Giuditta; Boschetti, Elisa; Papa, Valentina; Maresca, Alessandra; Cenacchi, Giovanna; Casadio, Rita; Martelli, Pierluigi; Matera, Ivana; Ceccherini, Isabella; Fato, Romana; Raiola, Giuseppe; Arrigo, Serena; Signa, Sara; Sementa, Angela Rita; Severino, Mariasavina; Striano, Pasquale; Fiorillo, Chiara; Goto, Tsuyoshi; Uchino, Shumpei; Oyazato, Yoshinobu; Nakamura, Hisayoshi; Mishra, Sushil K; Yeh, Yu-Sheng; Kato, Takema; Nozu, Kandai; Tanboon, Jantima; Morioka, Ichiro; Nishino, Ichizo; Toda, Tatsushi; Goto, Yu-Ichi; Ohtake, Akira; Kosaki, Kenjiro; Yamaguchi, Yoshiki; Nonaka, Ikuya; Iijima, Kazumoto; Mimaki, Masakazu; Kurahashi, Hiroki; Raams, Anja; MacInnes, Alyson; Alders, Mariel; Engelen, Marc; Linthorst, Gabor; de Koning, Tom; den Dunnen, Wilfred; Dijkstra, Gerard; van Spaendonck, Karin; van Gent, Dik C; Aronica, Eleonora M; Picco, Paolo; Carelli, Valerio; Seri, Marco; Katsanis, Nicholas; Duijkers, Floor A M; Taniguchi-Ikeda, Mariko; De Giorgio, Roberto 2021-01-01 BRAIN - 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 Ann Clin Transl Neurol - 2021 - Gramegna - Brain MRS correlates with mitochondrial dysfunction biomarkers in.pdfACN3-8-1200-s001.docx
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, Mich...ele; 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
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; Capp...ellari, 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; Cassi...na, 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 -
Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions. Caporali L;Ghelli AM;Iommarini L;Maresca A;Valentino ML;La Morgia C;Liguori R;Zanna C;Barboni P;D...e Nardo V;Martinuzzi A;Rizzo G;Tonon C;Lodi R;Calvaruso MA;Cappelletti M;Porcelli AM;Achilli A;Pala M;Torroni A;Carelli V 2013-01-01 BIOCHIMICA ET BIOPHYSICA ACTA. MOLECULAR BASIS OF DISEASE - 1.01 Articolo in rivista -
Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models Del Dotto, Valentina; Fogazza, Mario; Musiani, Francesco; Maresca, Alessandra; Aleo, Serena J.; C...aporali, Leonardo; La Morgia, Chiara; Nolli, Cecilia; Lodi, Tiziana; Goffrini, Paola; Chan, David; Carelli, Valerio; Rugolo, Michela; Baruffini, Enrico; Zanna, Claudia* 2018-01-01 BIOCHIMICA ET BIOPHYSICA ACTA. MOLECULAR BASIS OF DISEASE - 1.01 Articolo in rivista 56_2018_DelDotto_BBAMolBasisDisease.pdf
DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions Caporali, Leonardo; Bello, Luca; Tagliavini, Francesca; La Morgia, Chiara; Maresca, Alessandra; D...i Vito, Lidia; Liguori, Rocco; Valentino, Maria Lucia; Cecchin, Diego; Pegoraro, Elena; Carelli, Valerio 2018-01-01 BRAIN - 1.01 Articolo in rivista -
Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder Caporali, Leonardo; Fiorini, Claudio; Palombo, Flavia; Romagnoli, Martina; Baccari, Flavia; Zenes...ini, Corrado; Visconti, Paola; Posar, Annio; Scaduto, Maria Cristina; Ormanbekova, Danara; Battaglia, Agatino; Tancredi, Raffaella; Cameli, Cinzia; Viggiano, Marta; Olivieri, Anna; Torroni, Antonio; Maestrini, Elena; Rochat, Magali Jane; Bacchelli, Elena; Carelli, Valerio; Maresca, Alessandra 2022-01-01 FRONTIERS IN GENETICS - 1.01 Articolo in rivista -
DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism Maresca, Alessandra; Del Dotto, Valentina; Capristo, Mariantonietta; Scimonelli, Emanuela; Taglia...vini, Francesca; Morandi, Luca; Tropeano, Concetta Valentina; Caporali, Leonardo; Mohamed, Susan; Roberti, Marina; Scandiffio, Letizia; Zaffagnini, Mirko; Rossi, Jacopo; Cappelletti, Martina; Musiani, Francesco; Contin, Manuela; Riva, Roberto; Liguori, Rocco; Pizza, Fabio; La Morgia, Chiara; Antelmi, Elena; Polosa, Paola Loguercio; Mignot, Emmanuel; Zanna, Claudia; Plazzi, Giuseppe; Carelli, Valerio 2020-01-01 HUMAN MOLECULAR GENETICS ONLINE - 1.01 Articolo in rivista ddaa014.pdfsupplementary_materials_rev_ddaa014.docx
Drug repositioning as a therapeutic strategy for neurodegenerations associated with OPA1 mutations Aleo, Serena J; Del Dotto, Valentina; Fogazza, Mario; Maresca, Alessandra; Lodi, Tiziana; Goffrin...i, Paola; Ghelli, Anna; Rugolo, Michela; Carelli, Valerio; Baruffini, Enrico; Zanna, Claudia 2020-01-01 HUMAN MOLECULAR GENETICS - 1.01 Articolo in rivista 2021 - Aleo et al HMG.pdfsupplementary_material_19-10-20_ddaa244.docx
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy. Giordano C;Iommarini L;Giordano L;Maresca A;Pisano A;Valentino ML;Caporali L;Liguori R;Deceglie S...;Roberti M;Fanelli F;Fracasso F;Ross-Cisneros FN;D'Adamo P;Hudson G;Pyle A;Yu-Wai-Man P;Chinnery PF;Zeviani M;Salomao SR;Berezovsky A;Belfort R Jr;Ventura DF;Moraes M;Moraes Filho M;Barboni P;Sadun F;De Negri A;Sadun AA;Tancredi A;Mancini M;d'Amati G;Loguercio Polosa P;Cantatore P;Carelli V 2014-01-01 BRAIN - 1.01 Articolo in rivista -
Expanding and validating the biomarkers for mitochondrial diseases Maresca A.; Del Dotto V.; Romagnoli M.; La Morgia C.; Di Vito L.; Capristo M.; Valentino M.L.; Ca...relli V. 2020-01-01 JOURNAL OF MOLECULAR MEDICINE - 1.01 Articolo in rivista -
Exploiting hiPSCs in Leber's Hereditary Optic Neuropathy (LHON): Present Achievements and Future Perspectives Peron C.; Maresca A.; Cavaliere A.; Iannielli A.; Broccoli V.; Carelli V.; Di Meo I.; Tiranti V. 2021-01-01 FRONTIERS IN NEUROLOGY - 1.01 Articolo in rivista fneur-12-648916.pdf
Exploring metabolic adaptations to the acidic microenvironment of osteosarcoma cells unveils sphingosine 1-phosphate as a valuable therapeutic target Cortini M.; Armirotti A.; Columbaro M.; Longo D.L.; Di Pompo G.; Cannas E.; Maresca A.; Errani C....; Longhi A.; Righi A.; Carelli V.; Baldini N.; Avnet S. 2021-01-01 CANCERS - 1.01 Articolo in rivista cancers-13-00311-v3.pdf