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CARBONELLI, MICHELE

CARBONELLI, MICHELE  

DIPARTIMENTO DI SCIENZE BIOMEDICHE E NEUROMOTORIE  

Assegnisti  

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Risultati 1 - 20 di 20 (tempo di esecuzione: 0.059 secondi).
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 -
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
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 -
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
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 ScienceDirect_files_08Nov2023_12-17-04.267.zip; 1-s2.0-S0002939422005013-main.pdf
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
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
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
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
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
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
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
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
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 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
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 -
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