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CARBONELLI, MICHELE

CARBONELLI, MICHELE  

DIBINEM - DIPARTIMENTO DI SCIENZE BIOMEDICHE E NEUROMOTORIE  

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Risultati 1 - 20 di 29 (tempo di esecuzione: 0.038 secondi).
Titolo Autore(i) Anno Periodico Editore Tipo File
A Case of Late-Onset Leber’s Hereditary Optic Neuropathy in Association with Heteroplasmic m.11778G>A/ND4 Mutation Portaro, Giacomo; Cavallieri, Francesco; Amore, Giulia; Carbonelli, Michele; Pelloni, Simone; Cav...allieri, Giuseppe; Carelli, Valerio; Valzania, Franco; Morgia, Chiara La 2025-01-01 NEURO-OPHTHALMOLOGY - 1.01 Articolo in rivista -
Expanding the Clinical Spectrum of SPG26: A Case Report and Review of B4GALNT1-Associated Hereditary Spastic Paraplegia Giacomozzi, S.; Bonan, L.; La Morgia, C.; Carbonelli, M.; Santucci, M.; Isidori, F.; Pippucci, T....; Liguori, R.; Rizzo, G. 2025-01-01 MOVEMENT DISORDERS CLINICAL PRACTICE - 1.01 Articolo in rivista -
Five-Year Outcomes of Lenadogene Nolparvovec Gene Therapy in Leber Hereditary Optic Neuropathy Yu-Wai-Man, Patrick; Newman, Nancy J.; Biousse, Valérie; Carelli, Valerio; Moster, Mark L.; Vigna...l-Clermont, Catherine; Klopstock, Thomas; Sadun, Alfredo A.; Sergott, Robert C.; Hage, Rabih; Degli Esposti, Simona; La Morgia, Chiara; Priglinger, Claudia; Karanja, Rustum; Taiel, Magali; Sahel, José-Alain; Null, Null; Barboni, Piero; Carbonelli, Michele; Di Vito, Lidia; Amore, Giulia; Contin, Manuela; Mohamed, Susan; Silvestri, Sara; Baker Hubbard, George; Hendrick, Andrew M.; Dattilo, Michael; Peragallo, Jason H.; Hawy, Eman; Dubois, Lindreth; Gibbs, Deborah; Fernandes Filho, Alcides; Dobbs, Jannah; Aung, Andre; Acheson, James; Boston, Hayley; Eleftheriadou, Maria; Gemenetzi, Maria; Leitch-Devlin, Lauren; Tucker, William R.; Jurkute, Neringa; Burale, Asma; Debusk, Adam A.; Haller, Julia A.; Massini, Maria; Santamaria, Melissa; Tollis, Heather; Girmens, Jean-François; Plaine, Lise; Khemliche, Wahiba; Catarino, Claudia B.; Priglinger, Siegfried; Rudolph, Günther; Thurau, Stephan; von Livonius, Bettina; Muth, Daniel; Wolf, Armin; Al-Tamami, Jasmina; Pressler, Angelika; Schertler, Cosima; Hildebrandt, Martin; Neuenhahn, Michael; Heilweil, Gad; Tsui, Irena 2025-01-01 JAMA OPHTHALMOLOGY - 1.01 Articolo in rivista jamaophthalmology_yuwaiman_2024_oi_240080_1739913511.04053.pdf; file supplementari.zip
Late-onset Leber’s hereditary optic neuropathy and antiandrogens for prostate cancer: is there a causative link? Amore, G.; Carbonelli, M.; D'Angeli, D.; Bonan, L.; Faustini-Fustini, M.; Maresca, A.; Carelli, V....; La Morgia, C. 2025-01-01 FRONTIERS IN NEUROLOGY - 1.01 Articolo in rivista fneur-16-1616992.pdf
Machine Learning Applied to Visual Fields of Dominant Optic Atrophy Patients Coutinho, C. P.; Zanchetta, F.; Carbonelli, M.; Battista, M.; Galzignato, A.; La Morgia, C.; Amor...e, G.; Romagnoli, M.; Savini, G.; Brotto, L.; Nucci, P.; Caporali, L.; Bandello, F.; Carelli, V.; Cascavilla, M. L.; Fioresi, R.; Barboni, P. 2025-01-01 TRANSLATIONAL VISION SCIENCE & TECHNOLOGY - 1.01 Articolo in rivista i2164-2591-14-6-20_1749552676.2211.pdf
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
Application of a Deep Learning System to Detect Papilledema on Nonmydriatic Ocular Fundus Photographs in an Emergency Department Biousse, Valérie; Najjar, Raymond P.; Tang, Zhiqun; Lin, Mung Yan; Wright, David W.; Keadey, Matt...hew T.; Wong, Tien Y.; Bruce, Beau B.; Milea, Dan; Newman, Nancy J.; Fraser, Clare L.; Micieli, Jonathan A.; Costello, Fiona; Bénard-Séguin, Étienne; Yang, Hui; Chan, Carmen Kar Mun; Cheung, Carol Y; Chan, Noel Cy; Hamann, Steffen; Gohier, Philippe; Vautier, Anaïs; Rougier, Marie-Bénédicte; Chiquet, Christophe; Vignal-Clermont, Catherine; Hage, Rabih; Khanna, Raoul Kanav; Tran, Thi Ha Chau; Lagrèze, Wolf Alexander; Jonas, Jost B; Ambika, Selvakumar; Fard, Masoud Aghsaei; La Morgia, Chiara; Carbonelli, Michele; Barboni, Piero; Carelli, Valerio; Romagnoli, Martina; Amore, Giulia; Nakamura, Makoto; Fumio, Takano; Petzold, Axel; Wenniger Lj, Maillette De Buy; Kho, Richard; Fonseca, Pedro L.; Bikbov, Mukharram M.; Milea, Dan; Najjar, Raymond P; Ting, Daniel; Tang, Zhiqun; Loo, Jing Liang; Tow, Sharon; Singhal, Shweta; Vasseneix, Caroline; Wong, Tien Yin; Lamoureux, Ecosse; Yu Chen, Ching; Aung, Tin; Schmetterer, Leopold; Sanda, Nicolae; Thuman, Gabriele; Hwang, Jeong-Min; Vanikieti, Kavin; Suwan, Yanin; Padungkiatsagul, Tanyatuth; Yu-Wai-Man, Patrick; Jurkute, Neringa; Hong, Eun Hee; Biousse, Valerie; Newman, Nancy J.; Peragallo, Jason H.; Datillo, Michael; Kedar, Sachin; Lin, Mung Yan; Patil, Ajay; Aung, Andre; Boyko, Matthew; Alsakran, Wael Abdulraman; Zayani, Amani; Bouthour, Walid; Banc, Ana; Mosley, Rasha; Labella, Fernando; Miller, Neil R.; Chen, John J.; Mejico, Luis J.; Kilangalanga, Janvier Ngoy 2024-01-01 AMERICAN JOURNAL OF OPHTHALMOLOGY - 1.01 Articolo in rivista -
Co-occurrence of glial fibrillary acidic protein astrocytopathy in a patient with Leber's hereditary optic neuropathy due to DNAJC30 mutations Giannoccaro, M. P.; Morelli, L.; Ricciardiello, F.; Donadio, V.; Bartiromo, F.; Tonon, C.; Carbon...elli, M.; Amore, G.; Carelli, V.; Liguori, R.; La Morgia, C. 2024-01-01 EUROPEAN JOURNAL OF NEUROLOGY - 1.01 Articolo in rivista Euro J of Neurology - 2024 - Giannoccaro - Co‐occurrence of glial fibrillary acidic protein astrocytopathy in a patient.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
The BONSAI (Brain and Optic Nerve Study with Artificial Intelligence) deep learning system can accurately identify pediatric papilledema on standard ocular fundus photographs Lin, M. Y.; Najjar, R. P.; Tang, Z.; Cioplean, D.; Dragomir, M.; Chia, A.; Patil, A.; Vasseneix, ...C.; Peragallo, J. H.; Newman, N. J.; Biousse, V.; Milea, D.; Fraser, C. L.; Micieli, J. A.; Costello, F.; Etienne, Benard-Seguin; Yang, H.; Mun Chan, C. K.; Cheung, C. Y.; Chan, N. C.; Hamann, S.; Gohier, P.; Vautier, A.; Rougier, M. -B.; Chiquet, C.; Vignal-Clermont, C.; Hage, R.; Khanna, R. K.; Chau Tran, T. H.; Lagreze, W. A.; Jonas, J. B.; Ambika, S.; Fard, M. A.; La Morgia, C.; Carbonelli, M.; Barboni, P.; Carelli, V.; Romagnoli, M.; Amore, G.; Nakamura, M.; Fumio, T.; Petzold, A.; de Buy Wenniger, L. J. M.; Kho, R.; Fonseca, P. L.; Bikbov, M. M.; Ting, D.; Loo, J. L.; Tow, S.; Singhal, S.; Wong, T. Y.; Lamoureux, E.; Chen, C. Y.; Aung, T.; Schmetterer, L.; Sanda, N.; Thuman, G.; Hwang, J. -M.; Vanikieti, K.; Suwan, Y.; Padungkiatsagul, T.; Yu-Wai-Man, P.; Jurkute, N.; Hong, E. H.; Biousse, V.; Datillo, M.; Kedar, S.; Aung, A.; Boyko, M.; Alsakran, W. A.; Zayani, A.; Bouthour, W.; Banc, A.; Mosley, R.; Labella, F.; Miller, N. R.; Chen, J. J.; Mejico, L. J.; Kilangalanga, J. N. 2024-01-01 JOURNAL OF AAPOS - 1.01 Articolo in rivista -
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 -