MARESCA, ALESSANDRA
MARESCA, ALESSANDRA
DIPARTIMENTO DI SCIENZE BIOMEDICHE E NEUROMOTORIE
A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance.
2014 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
A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.
2013 T. Pippucci; A. Parmeggiani; F. Palombo; A. Maresca; A. Angius; L. Crisponi; F. Cucca; R. Liguori; M. L. Valentino; M. Seri; V. Carelli
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder.
2021 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.
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy
2020 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.
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)
2020 La Morgia C.; Maresca A.; Amore G.; Gramegna L.L.; Carbonelli M.; Scimonelli E.; Danese A.; Patergnani 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.
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy
2021 Bonora, Elena; Chakrabarty, Sanjiban; Kellaris, Georgios; Tsutsumi, Makiko; Bianco, Francesca; Bergamini, 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
Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS-associated mtDNA mutations
2021 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
Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome
2020 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
Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways
2015 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
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations
2016 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
Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions.
2013 Caporali L;Ghelli AM;Iommarini L;Maresca A;Valentino ML;La Morgia C;Liguori R;Zanna C;Barboni P;De Nardo V;Martinuzzi A;Rizzo G;Tonon C;Lodi R;Calvaruso MA;Cappelletti M;Porcelli AM;Achilli A;Pala M;Torroni A;Carelli V
Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models
2018 Del Dotto, Valentina; Fogazza, Mario; Musiani, Francesco; Maresca, Alessandra; Aleo, Serena J.; Caporali, Leonardo; La Morgia, Chiara; Nolli, Cecilia; Lodi, Tiziana; Goffrini, Paola; Chan, David; Carelli, Valerio; Rugolo, Michela; Baruffini, Enrico; Zanna, Claudia*
DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions
2018 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
Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder
2022 Caporali, Leonardo; Fiorini, Claudio; Palombo, Flavia; Romagnoli, Martina; Baccari, Flavia; Zenesini, 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
DNA methyltransferase 1 mutations and mitochondrial pathology: Is mtDNA methylated?
2015 Maresca, Alessandra; Zaffagnini, Mirko; Caporali, Leonardo; Carelli, Valerio; Zanna, Claudia
DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism
2020 Maresca, Alessandra; Del Dotto, Valentina; Capristo, Mariantonietta; Scimonelli, Emanuela; Tagliavini, 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
Drug repositioning as a therapeutic strategy for neurodegenerations associated with OPA1 mutations
2020 Aleo, Serena J; Del Dotto, Valentina; Fogazza, Mario; Maresca, Alessandra; Lodi, Tiziana; Goffrini, Paola; Ghelli, Anna; Rugolo, Michela; Carelli, Valerio; Baruffini, Enrico; Zanna, Claudia
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy.
2014 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
Expanding and validating the biomarkers for mitochondrial diseases
2020 Maresca A.; Del Dotto V.; Romagnoli M.; La Morgia C.; Di Vito L.; Capristo M.; Valentino M.L.; Carelli V.
Exploiting hiPSCs in Leber's Hereditary Optic Neuropathy (LHON): Present Achievements and Future Perspectives
2021 Peron C.; Maresca A.; Cavaliere A.; Iannielli A.; Broccoli V.; Carelli V.; Di Meo I.; Tiranti V.
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 | s41598-020-67203-2 (1).pdf |
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.pdf; ACN3-8-1200-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.pdf; 41598_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.pdf; Supplementary 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 | Caporali_mitogenomce_FrontG2022.pdf |
DNA methyltransferase 1 mutations and mitochondrial pathology: Is mtDNA methylated? | Maresca, Alessandra; Zaffagnini, Mirko; Caporali, Leonardo; Carelli, Valerio; Zanna, Claudia | 2015-01-01 | FRONTIERS IN GENETICS | - | 1.01 Articolo in rivista | Dna Methyltransferase 1 Mutations and Mitochondrial Pathology.pdf |
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.pdf; supplementary_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.pdf; supplementary_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 | s00109-020-01967-y (1).pdf; file supplementari.zip |
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 |