CARBONELLI, MICHELE
CARBONELLI, MICHELE
DIPARTIMENTO DI SCIENZE BIOMEDICHE E NEUROMOTORIE
Assegnisti
AFG3L2 and ACO2-linked Dominant Optic Atrophy: genotype-phenotype characterization compared to OPA1 patients
2024 Amore, Giulia; Romagnoli, Martina; Carbonelli, Michele; Cascavilla, Maria Lucia; De Negri, Anna Maria; Carta, Arturo; Parisi, Vincenzo; Di Renzo, Antonio; Schiavi, Costantino; Lenzetti, Chiara; Zenesini, Corrado; Ormanbekova, Danara; Palombo, Flavia; Fiorini, Claudio; Caporali, Leonardo; Carelli, Valerio; Barboni, Piero; La Morgia, Chiara
Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy
2024 Aleo S.J.; Del Dotto V.; Romagnoli M.; Fiorini C.; Capirossi G.; Peron C.; Maresca A.; Caporali L.; Capristo M.; Tropeano C.V.; Zanna C.; Ross-Cisneros F.N.; Sadun A.A.; Pignataro M.G.; Giordano C.; Fasano C.; Cavaliere A.; Porcelli A.M.; Tioli G.; Musiani F.; Catania A.; Lamperti C.; Marzoli S.B.; De Negri A.; Cascavilla M.L.; Battista M.; Barboni P.; Carbonelli M.; Amore G.; La Morgia C.; Smirnov D.; Vasilescu C.; Farzeen A.; Blickhaeuser B.; Prokisch H.; Priglinger C.; Livonius B.; Catarino C.B.; Klopstock T.; Tiranti V.; Carelli V.; Ghelli A.M.
Childhood-Onset Leber Hereditary Optic Neuropathy - Clinical and Prognostic Insights
2023 Barboni, Piero; La Morgia, Chiara; Cascavilla, Maria Lucia; Hong, Eun Hee; Battista, Marco; Majander, Anna; Caporali, Leonardo; Starace, Vincenzo; Amore, Giulia; Renzo, Antonio Di; Carbonelli, Michele; Nucci, Paolo; Jurkute, Neringa; Chen, Benson S; Panebianco, Roberta; De Negri, Anna Maria; Sadun, Federico; Parisi, Vincenzo; Bandello, Francesco; Sadun, Alfredo A; Carelli, Valerio; Yu-Wai-Man, Patrick
Multimodal investigation of melanopsin retinal ganglion cells in Alzheimer's disease
2023 La Morgia C.; Mitolo M.; Romagnoli M.; Stanzani Maserati M.; Evangelisti S.; De Matteis M.; Capellari S.; Bianchini C.; Testa C.; Vandewalle G.; Santoro A.; Carbonelli M.; D'Agati P.; Filardi M.; Avanzini P.; Barboni P.; Zenesini C.; Baccari F.; Liguori R.; Tonon C.; Lodi R.; Carelli V.
Recessive MECR pathogenic variants cause an LHON-like optic neuropathy
2023 Fiorini C.; Degiorgi A.; Cascavilla M.L.; Tropeano C.V.; La Morgia C.; Battista M.; Ormanbekova D.; Palombo F.; Carbonelli M.; Bandello F.; Carelli V.; Maresca A.; Barboni P.; Baruffini E.; Caporali L.
The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10
2023 Fiorini C.; Ormanbekova D.; Palombo F.; Carbonelli M.; Amore G.; Romagnoli M.; D'agati P.; Valentino M.L.; Barboni P.; Cascavilla M.L.; De Negri A.; Sadun F.; Carta A.; Testa F.; Petruzzella V.; Guerriero S.; Bianchi Marzoli S.; Carelli V.; La Morgia C.; Caporali L.
Capturing the Pattern of Transition From Carrier to Affected in Leber Hereditary Optic Neuropathy
2022 Carbonelli, M; La Morgia, C; Romagnoli, M; Amore, G; D'Agati, P; Valentino, ML; Caporali, L; Cascavilla, ML; Battista, M; Borrelli, E; Di Renzo, A; Parisi, V; Balducci, N; Carelli, V; Barboni, P
Case Report: Optic Atrophy and Nephropathy With m.13513G>A/MT-ND5 mtDNA Pathogenic Variant
2022 Valentina Barone, Chiara La Morgia, Leonardo Caporali, Claudio Fiorini, Michele Carbonelli, Laura Ludovica Gramegna, Fiorina Bartiromo, Caterina Tonon, Luca Morandi, Rocco Liguori, Aurelia Petrini, Rachele Brugnano, Rachele Del Sordo, Carla Covarelli, Manrico Morroni, Raffaele Lodi, Valerio Carelli
Longitudinal Study of Optic Disk Perfusion and Retinal Structure in Leber's Hereditary Optic Neuropathy
2022 Calzetti G.; La Morgia C.; Cattaneo M.; Carta A.; Bosello F.; Amore G.; Carbonelli M.; Cascavilla M.L.; Gandolfi S.; Carelli V.; Schmetterer L.; Scholl H.P.N.; Barboni P.
Multishell Diffusion MR Tractography Yields Morphological and Microstructural Information of the Anterior Optic Pathway: A Proof-of-Concept Study in Patients with Leber’s Hereditary Optic Neuropathy
2022 Manners D.N.; Gramegna L.L.; La Morgia C.; Sighinolfi G.; Fiscone C.; Carbonelli M.; Romagnoli M.; Carelli V.; Tonon C.; Lodi R.
Retinal vascular impairment in Wolfram syndrome: an optical coherence tomography angiography study
2022 Battista M.; Cascavilla M.L.; Grosso D.; Borrelli E.; Frontino G.; Amore G.; Carbonelli M.; Bonfanti R.; Rigamonti A.; Barresi C.; Vigano C.; Tombolini B.; Crepaldi A.; Montemagni M.; La Morgia C.; Bandello F.; Barboni P.
The Pattern of Retinal Ganglion Cell Loss in Wolfram Syndrome is Distinct From Mitochondrial Optic Neuropathies
2022 Barboni P.; Amore G.; Cascavilla M.L.; Battista M.; Frontino G.; Romagnoli M.; Caporali L.; Baldoli C.; Gramegna L.L.; Sessagesimi E.; Bonfanti R.; Romagnoli A.; Scotti R.; Brambati M.; Carbonelli M.; Starace V.; Fiorini C.; Panebianco R.; Parisi V.; Tonon C.; Bandello F.; Carelli V.; La Morgia C.
Brain functional MRI responses to blue light stimulation in Leber's hereditary optic neuropathy
2021 Evangelisti S.; La Morgia C.; Testa C.; Manners D.N.; Brizi L.; Bianchini C.; Carbonelli M.; Barboni P.; Sadun A.A.; Tonon C.; Carelli V.; Vandewalle G.; Lodi R.
Cross-Sectional Analysis of Baseline Visual Parameters in Subjects Recruited Into the RESCUE and REVERSE ND4-LHON Gene Therapy Studies
2021 Moster M.L.; Sergott R.C.; Newman N.J.; Yu-Wai-Man P.; Carelli V.; Bryan M.S.; Smits G.; Biousse V.; Vignal-Clermont C.; Klopstock T.; Sadun A.A.; DeBusk A.A.; Carbonelli M.; Hage R.; Priglinger S.; Karanjia R.; Blouin L.; Taiel M.; Katz B.; Sahel J.A.
Dominant ACO2 mutations are a frequent cause of isolated optic atrophy
2021 Charif, Majida; Gueguen, Naïg; Ferré, Marc; Elkarhat, Zouhair; Khiati, Salim; LeMao, Morgane; Chevrollier, Arnaud; Desquiret-Dumas, Valerie; Goudenège, David; Bris, Céline; Kane, Selma; Alban, Jennifer; Chupin, Stéphanie; Wetterwald, Céline; Caporali, Leonardo; Tagliavini, Francesca; LaMorgia, Chiara; Carbonelli, Michele; Jurkute, Neringa; Barakat, Abdelhamid; Gohier, Philippe; Verny, Christophe; Barth, Magalie; Procaccio, Vincent; Bonneau, Dominique; Zanlonghi, Xavier; Meunier, Isabelle; Weisschuh, Nicole; Schimpf-Linzenbold, Simone; Tonagel, Felix; Kellner, Ulrich; Yu-Wai-Man, Patrick; Carelli, Valerio; Wissinger, Bernd; Amati-Bonneau, Patrizia; Reynier, Pascal; Lenaers, Guy
Efficacy and Safety of Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy Treated within 6 Months of Disease Onset
2021 Newman, NJ; Yu-Wai-Man, P; Carelli, V; Moster, ML; Biousse, V; Vignal-Clermont, C; Sergott, RC; Klopstock, T; Sadun, AA; Barboni, P; DeBusk, AA; Girmens, JF; Rudolph, G; Karanjia, R; Taiel, M; Blouin, L; Smits, G; Katz, B; Sahel, J-A; Vignal, C; Hage, R; Catarino, CB; Priglinger, C; Priglinger, S; Thurau, S; von Livonius, B; Muth, D; Wolf, A; Al-Tamami, J; Pressler, A; Schertler, C; Hildebrandt, M; Neuenhahn, M; Heilweil, G; Tsui, I; Hubbard, GB; Hendrick, A; Dattilo, M; Peragallo, J; Hawy, E; DuBois, Med L; Gibbs, D; Filho, AF; Dobbs, J; Carbonelli, M; Di Vito, L; Contin, M; Mohamed, S; La Morgia, C; Silvestri, S; Acheson, J; Eleftheriadou, M; Esposti, S; Gemenetzi, M; Leitch-Devlin, L; Tucker, WR; Jurkute, N; SantaMaria, M; Tollis, H; Haller, JA; Massini, M.
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy
2021 Stenton S.L.; Sheremet N.L.; Catarino C.B.; Andreeva N.A.; Assouline Z.; Barboni P.; Barel O.; Berutti R.; Bychkov I.; Caporali L.; Capristo M.; Carbonelli M.; Cascavilla M.L.; Charbel Issa P.; Freisinger P.; Gerber S.; Ghezzi D.; Graf E.; Heidler J.; Hempel M.; Heon E.; Itkis Y.S.; Javasky E.; Kaplan J.; Kopajtich R.; Kornblum C.; Kovacs-Nagy R.; Krylova T.D.; Kunz W.S.; La Morgia C.; Lamperti C.; Ludwig C.; Malacarne P.F.; Maresca A.; Mayr J.A.; Meisterknecht J.; Nevinitsyna T.A.; Palombo F.; Pode-Shakked B.; Shmelkova M.S.; Strom T.M.; Tagliavini F.; Tzadok M.; Van der Ven A.T.; Vignal-Clermont C.; Wagner M.; Zakharova E.Y.; Zhorzholadze N.V.; Rozet J.-M.; Carelli V.; Tsygankova P.G.; Klopstock T.; Wittig I.; Prokisch H.
Natural history of patients with Leber hereditary optic neuropathy—results from the REALITY study
2021 Yu-Wai-Man P.; Newman N.J.; Carelli V.; La Morgia C.; Biousse V.; Bandello F.M.; Clermont C.V.; Campillo L.C.; Leruez S.; Moster M.L.; Cestari D.M.; Foroozan R.; Sadun A.; Karanjia R.; Jurkute N.; Blouin L.; Taiel M.; Sahel J.-A.; Hussain R.; Jorany R.; Sheel P.; DuBois L.; Carbonelli M.; Di Vito L.; Romagnoli M.; DeBusk A.A.; Massini M.; Hage R.; Heilweil G.; Tsui I.; Garcia V.; Morilla A.; Barboni P.; Cascavilla M.L.; Battista M.; Calcagno F.; Pina A.
Therapeutic Options in Hereditary Optic Neuropathies
2021 Amore G.; Romagnoli M.; Carbonelli M.; Barboni P.; Carelli V.; La Morgia C.
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.
| Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
|---|---|---|---|---|---|---|
| AFG3L2 and ACO2-linked Dominant Optic Atrophy: genotype-phenotype characterization compared to OPA1 patients | Amore, Giulia; Romagnoli, Martina; Carbonelli, Michele; Cascavilla, Maria Lucia; De Negri, Anna M...aria; Carta, Arturo; Parisi, Vincenzo; Di Renzo, Antonio; Schiavi, Costantino; Lenzetti, Chiara; Zenesini, Corrado; Ormanbekova, Danara; Palombo, Flavia; Fiorini, Claudio; Caporali, Leonardo; Carelli, Valerio; Barboni, Piero; La Morgia, Chiara | 2024-01-01 | AMERICAN JOURNAL OF OPHTHALMOLOGY | - | 1.01 Articolo in rivista | Amore_2024.pdf |
| Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy | Aleo S.J.; Del Dotto V.; Romagnoli M.; Fiorini C.; Capirossi G.; Peron C.; Maresca A.; Caporali L....; Capristo M.; Tropeano C.V.; Zanna C.; Ross-Cisneros F.N.; Sadun A.A.; Pignataro M.G.; Giordano C.; Fasano C.; Cavaliere A.; Porcelli A.M.; Tioli G.; Musiani F.; Catania A.; Lamperti C.; Marzoli S.B.; De Negri A.; Cascavilla M.L.; Battista M.; Barboni P.; Carbonelli M.; Amore G.; La Morgia C.; Smirnov D.; Vasilescu C.; Farzeen A.; Blickhaeuser B.; Prokisch H.; Priglinger C.; Livonius B.; Catarino C.B.; Klopstock T.; Tiranti V.; Carelli V.; Ghelli A.M. | 2024-01-01 | CELL REPORTS MEDICINE | - | 1.01 Articolo in rivista | 2024 - Aleo - Idebenone and NQO1 - Cell reports Medicine.pdf |
| Childhood-Onset Leber Hereditary Optic Neuropathy - Clinical and Prognostic Insights | Barboni, Piero; La Morgia, Chiara; Cascavilla, Maria Lucia; Hong, Eun Hee; Battista, Marco; Majan...der, Anna; Caporali, Leonardo; Starace, Vincenzo; Amore, Giulia; Renzo, Antonio Di; Carbonelli, Michele; Nucci, Paolo; Jurkute, Neringa; Chen, Benson S; Panebianco, Roberta; De Negri, Anna Maria; Sadun, Federico; Parisi, Vincenzo; Bandello, Francesco; Sadun, Alfredo A; Carelli, Valerio; Yu-Wai-Man, Patrick | 2023-01-01 | AMERICAN JOURNAL OF OPHTHALMOLOGY | - | 1.01 Articolo in rivista | - |
| Multimodal investigation of melanopsin retinal ganglion cells in Alzheimer's disease | La Morgia C.; Mitolo M.; Romagnoli M.; Stanzani Maserati M.; Evangelisti S.; De Matteis M.; Capel...lari S.; Bianchini C.; Testa C.; Vandewalle G.; Santoro A.; Carbonelli M.; D'Agati P.; Filardi M.; Avanzini P.; Barboni P.; Zenesini C.; Baccari F.; Liguori R.; Tonon C.; Lodi R.; Carelli V. | 2023-01-01 | ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY | - | 1.01 Articolo in rivista | Ann Clin Transl Neurol - 2023 - La Morgia.pdf |
| Recessive MECR pathogenic variants cause an LHON-like optic neuropathy | Fiorini C.; Degiorgi A.; Cascavilla M.L.; Tropeano C.V.; La Morgia C.; Battista M.; Ormanbekova D....; Palombo F.; Carbonelli M.; Bandello F.; Carelli V.; Maresca A.; Barboni P.; Baruffini E.; Caporali L. | 2023-01-01 | JOURNAL OF MEDICAL GENETICS | - | 1.01 Articolo in rivista | 93.full.pdf; jmg-2023-109340supp001.pdf |
| The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10 | Fiorini C.; Ormanbekova D.; Palombo F.; Carbonelli M.; Amore G.; Romagnoli M.; D'agati P.; Valent...ino M.L.; Barboni P.; Cascavilla M.L.; De Negri A.; Sadun F.; Carta A.; Testa F.; Petruzzella V.; Guerriero S.; Bianchi Marzoli S.; Carelli V.; La Morgia C.; Caporali L. | 2023-01-01 | BRAIN | - | 1.01 Articolo in rivista | awad080.pdf; awad080_supplementary_data.pdf |
| Capturing the Pattern of Transition From Carrier to Affected in Leber Hereditary Optic Neuropathy | Carbonelli, M; La Morgia, C; Romagnoli, M; Amore, G; D'Agati, P; Valentino, ML; Caporali, L; Casc...avilla, ML; Battista, M; Borrelli, E; Di Renzo, A; Parisi, V; Balducci, N; Carelli, V; Barboni, P | 2022-01-01 | AMERICAN JOURNAL OF OPHTHALMOLOGY | - | 1.01 Articolo in rivista | PIIS0002939422001660.pdf; mmc1.docx |
| Case Report: Optic Atrophy and Nephropathy With m.13513G>A/MT-ND5 mtDNA Pathogenic Variant | Valentina Barone, Chiara La Morgia, Leonardo Caporali, Claudio Fiorini, Michele Carbonelli, Laura... Ludovica Gramegna, Fiorina Bartiromo, Caterina Tonon, Luca Morandi, Rocco Liguori, Aurelia Petrini, Rachele Brugnano, Rachele Del Sordo, Carla Covarelli, Manrico Morroni, Raffaele Lodi, Valerio Carelli | 2022-01-01 | FRONTIERS IN GENETICS | - | 1.01 Articolo in rivista | fgene-13-887696 (1).pdf |
| Longitudinal Study of Optic Disk Perfusion and Retinal Structure in Leber's Hereditary Optic Neuropathy | Calzetti G.; La Morgia C.; Cattaneo M.; Carta A.; Bosello F.; Amore G.; Carbonelli M.; Cascavilla... M.L.; Gandolfi S.; Carelli V.; Schmetterer L.; Scholl H.P.N.; Barboni P. | 2022-01-01 | INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | - | 1.01 Articolo in rivista | i1552-5783-63-1-43_1643377469.11573.pdf; iovs-63-1-43_s001.pdf |
| Multishell Diffusion MR Tractography Yields Morphological and Microstructural Information of the Anterior Optic Pathway: A Proof-of-Concept Study in Patients with Leber’s Hereditary Optic Neuropathy | Manners D.N.; Gramegna L.L.; La Morgia C.; Sighinolfi G.; Fiscone C.; Carbonelli M.; Romagnoli M....; Carelli V.; Tonon C.; Lodi R. | 2022-01-01 | INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH | - | 1.01 Articolo in rivista | ijerph-19-06914.pdf; ijerph-19-06914-s001.zip |
| Retinal vascular impairment in Wolfram syndrome: an optical coherence tomography angiography study | Battista M.; Cascavilla M.L.; Grosso D.; Borrelli E.; Frontino G.; Amore G.; Carbonelli M.; Bonfa...nti R.; Rigamonti A.; Barresi C.; Vigano C.; Tombolini B.; Crepaldi A.; Montemagni M.; La Morgia C.; Bandello F.; Barboni P. | 2022-01-01 | SCIENTIFIC REPORTS | - | 1.01 Articolo in rivista | s41598-022-06150-6.pdf |
| The Pattern of Retinal Ganglion Cell Loss in Wolfram Syndrome is Distinct From Mitochondrial Optic Neuropathies | Barboni P.; Amore G.; Cascavilla M.L.; Battista M.; Frontino G.; Romagnoli M.; Caporali L.; Baldo...li C.; Gramegna L.L.; Sessagesimi E.; Bonfanti R.; Romagnoli A.; Scotti R.; Brambati M.; Carbonelli M.; Starace V.; Fiorini C.; Panebianco R.; Parisi V.; Tonon C.; Bandello F.; Carelli V.; La Morgia C. | 2022-01-01 | AMERICAN JOURNAL OF OPHTHALMOLOGY | - | 1.01 Articolo in rivista | - |
| Brain functional MRI responses to blue light stimulation in Leber's hereditary optic neuropathy | Evangelisti S.; La Morgia C.; Testa C.; Manners D.N.; Brizi L.; Bianchini C.; Carbonelli M.; Barb...oni P.; Sadun A.A.; Tonon C.; Carelli V.; Vandewalle G.; Lodi R. | 2021-01-01 | BIOCHEMICAL PHARMACOLOGY | - | 1.01 Articolo in rivista | - |
| Cross-Sectional Analysis of Baseline Visual Parameters in Subjects Recruited Into the RESCUE and REVERSE ND4-LHON Gene Therapy Studies | Moster M.L.; Sergott R.C.; Newman N.J.; Yu-Wai-Man P.; Carelli V.; Bryan M.S.; Smits G.; Biousse ...V.; Vignal-Clermont C.; Klopstock T.; Sadun A.A.; DeBusk A.A.; Carbonelli M.; Hage R.; Priglinger S.; Karanjia R.; Blouin L.; Taiel M.; Katz B.; Sahel J.A. | 2021-01-01 | JOURNAL OF NEURO-OPHTHALMOLOGY | - | 1.01 Articolo in rivista | Cross_Sectional_Analysis_of_Baseline_Visual.4.pdf |
| Dominant ACO2 mutations are a frequent cause of isolated optic atrophy | Charif, Majida; Gueguen, Naïg; Ferré, Marc; Elkarhat, Zouhair; Khiati, Salim; LeMao, Morgane; Che...vrollier, Arnaud; Desquiret-Dumas, Valerie; Goudenège, David; Bris, Céline; Kane, Selma; Alban, Jennifer; Chupin, Stéphanie; Wetterwald, Céline; Caporali, Leonardo; Tagliavini, Francesca; LaMorgia, Chiara; Carbonelli, Michele; Jurkute, Neringa; Barakat, Abdelhamid; Gohier, Philippe; Verny, Christophe; Barth, Magalie; Procaccio, Vincent; Bonneau, Dominique; Zanlonghi, Xavier; Meunier, Isabelle; Weisschuh, Nicole; Schimpf-Linzenbold, Simone; Tonagel, Felix; Kellner, Ulrich; Yu-Wai-Man, Patrick; Carelli, Valerio; Wissinger, Bernd; Amati-Bonneau, Patrizia; Reynier, Pascal; Lenaers, Guy | 2021-01-01 | BRAIN COMMUNICATIONS | - | 1.01 Articolo in rivista | fcab063.pdf; fcab063_supplementary_data.pdf |
| Efficacy and Safety of Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy Treated within 6 Months of Disease Onset | Newman, NJ; Yu-Wai-Man, P; Carelli, V; Moster, ML; Biousse, V; Vignal-Clermont, C; Sergott, RC; K...lopstock, T; Sadun, AA; Barboni, P; DeBusk, AA; Girmens, JF; Rudolph, G; Karanjia, R; Taiel, M; Blouin, L; Smits, G; Katz, B; Sahel, J-A; Vignal, C; Hage, R; Catarino, CB; Priglinger, C; Priglinger, S; Thurau, S; von Livonius, B; Muth, D; Wolf, A; Al-Tamami, J; Pressler, A; Schertler, C; Hildebrandt, M; Neuenhahn, M; Heilweil, G; Tsui, I; Hubbard, GB; Hendrick, A; Dattilo, M; Peragallo, J; Hawy, E; DuBois, Med L; Gibbs, D; Filho, AF; Dobbs, J; Carbonelli, M; Di Vito, L; Contin, M; Mohamed, S; La Morgia, C; Silvestri, S; Acheson, J; Eleftheriadou, M; Esposti, S; Gemenetzi, M; Leitch-Devlin, L; Tucker, WR; Jurkute, N; SantaMaria, M; Tollis, H; Haller, JA; Massini, M. | 2021-01-01 | OPHTHALMOLOGY | - | 1.01 Articolo in rivista | 1-s2.0-S0161642020311878-main.pdf; ScienceDirect_files_09Feb2023_11-41-02.359.zip |
| Impaired complex I repair causes recessive Leber's hereditary optic neuropathy | Stenton S.L.; Sheremet N.L.; Catarino C.B.; Andreeva N.A.; Assouline Z.; Barboni P.; Barel O.; Be...rutti R.; Bychkov I.; Caporali L.; Capristo M.; Carbonelli M.; Cascavilla M.L.; Charbel Issa P.; Freisinger P.; Gerber S.; Ghezzi D.; Graf E.; Heidler J.; Hempel M.; Heon E.; Itkis Y.S.; Javasky E.; Kaplan J.; Kopajtich R.; Kornblum C.; Kovacs-Nagy R.; Krylova T.D.; Kunz W.S.; La Morgia C.; Lamperti C.; Ludwig C.; Malacarne P.F.; Maresca A.; Mayr J.A.; Meisterknecht J.; Nevinitsyna T.A.; Palombo F.; Pode-Shakked B.; Shmelkova M.S.; Strom T.M.; Tagliavini F.; Tzadok M.; Van der Ven A.T.; Vignal-Clermont C.; Wagner M.; Zakharova E.Y.; Zhorzholadze N.V.; Rozet J.-M.; Carelli V.; Tsygankova P.G.; Klopstock T.; Wittig I.; Prokisch H. | 2021-01-01 | THE JOURNAL OF CLINICAL INVESTIGATION | - | 1.01 Articolo in rivista | 138267.2-20210308150008-covered-e0fd13ba177f913fd3156f593ead4cfd.pdf; supplementary materials.zip |
| Natural history of patients with Leber hereditary optic neuropathy—results from the REALITY study | Yu-Wai-Man P.; Newman N.J.; Carelli V.; La Morgia C.; Biousse V.; Bandello F.M.; Clermont C.V.; C...ampillo L.C.; Leruez S.; Moster M.L.; Cestari D.M.; Foroozan R.; Sadun A.; Karanjia R.; Jurkute N.; Blouin L.; Taiel M.; Sahel J.-A.; Hussain R.; Jorany R.; Sheel P.; DuBois L.; Carbonelli M.; Di Vito L.; Romagnoli M.; DeBusk A.A.; Massini M.; Hage R.; Heilweil G.; Tsui I.; Garcia V.; Morilla A.; Barboni P.; Cascavilla M.L.; Battista M.; Calcagno F.; Pina A. | 2021-01-01 | EYE | - | 1.01 Articolo in rivista | s41433-021-01535-9.pdf; file supplementari.zip |
| Therapeutic Options in Hereditary Optic Neuropathies | Amore G.; Romagnoli M.; Carbonelli M.; Barboni P.; Carelli V.; La Morgia C. | 2021-01-01 | DRUGS | - | 1.01 Articolo in rivista | s40265-020-01428-3.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 |