LA MORGIA, CHIARA
LA MORGIA, CHIARA
DIBINEM - DIPARTIMENTO DI SCIENZE BIOMEDICHE E NEUROMOTORIE
Docenti di ruolo di IIa fascia
La Morgia C; Morgia CL; C. LA MORGIA; C. L. Morgia
A Case of Late-Onset Leber’s Hereditary Optic Neuropathy in Association with Heteroplasmic m.11778G>A/ND4 Mutation
2025 Portaro, Giacomo; Cavallieri, Francesco; Amore, Giulia; Carbonelli, Michele; Pelloni, Simone; Cavallieri, Giuseppe; Carelli, Valerio; Valzania, Franco; Morgia, Chiara La
Adult Leigh Syndrome Associated with the m.15635T>C Mitochondrial DNA Variant Affecting the Cytochrome b (MT-CYB) Gene
2025 Tropeano, C. V.; La Morgia, C.; Achilli, A.; Iommarini, L.; Tioli, G.; Caporali, L.; Olivieri, A.; Valentino, M. L.; Liguori, R.; Barboni, P.; Martinuzzi, A.; Tonon, C.; Lodi, R.; Torroni, A.; Carelli, V.; Ghelli, A. M.
Expanding the Clinical Spectrum of SPG26: A Case Report and Review of B4GALNT1-Associated Hereditary Spastic Paraplegia
2025 Giacomozzi, S.; Bonan, L.; La Morgia, C.; Carbonelli, M.; Santucci, M.; Isidori, F.; Pippucci, T.; Liguori, R.; Rizzo, G.
Five-Year Outcomes of Lenadogene Nolparvovec Gene Therapy in Leber Hereditary Optic Neuropathy
2025 Yu-Wai-Man, Patrick; Newman, Nancy J.; Biousse, Valérie; Carelli, Valerio; Moster, Mark L.; Vignal-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
Late-onset Leber’s hereditary optic neuropathy and antiandrogens for prostate cancer: is there a causative link?
2025 Amore, G.; Carbonelli, M.; D'Angeli, D.; Bonan, L.; Faustini-Fustini, M.; Maresca, A.; Carelli, V.; La Morgia, C.
Machine Learning Applied to Visual Fields of Dominant Optic Atrophy Patients
2025 Coutinho, C. P.; Zanchetta, F.; Carbonelli, M.; Battista, M.; Galzignato, A.; La Morgia, C.; Amore, G.; Romagnoli, M.; Savini, G.; Brotto, L.; Nucci, P.; Caporali, L.; Bandello, F.; Carelli, V.; Cascavilla, M. L.; Fioresi, R.; Barboni, P.
Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8
2025 Carli, Sara; Levarlet, Anna; Diodato, Daria; Bertini, Enrico Silvio; Martinelli, Diego; Malandrini, Alessandro; Lopergolo, Diego; Gallus, Gian Nicola; Ganetzky, Rebecca D; La Morgia, Chiara; Carelli, Valerio; Primiano, Guido; Domínguez-González, Cristina; Serrano-Lorenzo, Pablo; Martín, Miguel A; Ardissone, Anna; Lamperti, Costanza; Nicoletta, Valeria; Klopstock, Thomas; Distelmaier, Felix; Zeng, Leopold; Büchner, Boriana; Mancuso, Michelangelo; Schuelke, Markus; Prigione, Alessandro; Garone, Caterina
A Deep Learning Approach for Accurate Discrimination Between Optic Disc Drusen and Papilledema on Fundus Photographs
2024 Sathianvichitr, K.; Najjar, R. P.; Zhiqun, T.; Fraser, J. A.; Yau, C. W. L.; Girard, M. J. A.; Costello, F.; Lin, M. Y.; Lagreze, W. A.; Vignal-Clermont, C.; Fraser, C. L.; Hamann, S.; Newman, N. J.; Biousse, V.; Milea, D.; Petzold, A.; Gohier, P.; Miller, N. R.; Vanikieti, K.; Milea, L.; Carelli, V.; Barboni, P.; La Morgia, C.; Rougier, M. -B.; Benard-Seguin, E.; Ambika, S.; Fonseca, P. L.; Wibroe, E. A.; Kuchlin, S.; Sanda, N.; Chiquet, C.; Yang, H.; Chan, C. K. M.; Cheung, C. Y.; Kilangalanga, J. N.; Nakamura, M.; Fumio, T.; Jurkute, N.; Yu-Wai-Man, P.; Kho, R.; Jonas, J.; Dinkin, M. J.; Chen, J. J.; Sadun, R.; Hwang, J. -M.; Kim, D. H.; Yang, H. K.; Loo, J. L.; Schmetterer, L.; Lamoureux, E.; Aung, T.; Ting, D.; Wong, T. Y.; Ming Foo, R. C.; Singhal, S.; Lee Choon Tow, S.; Vasseneix, C.; Mejico, L. J.; Fard, M. A.; Micieli, J. A.; Bikbov, M. M.
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
Application of a Deep Learning System to Detect Papilledema on Nonmydriatic Ocular Fundus Photographs in an Emergency Department
2024 Biousse, Valérie; Najjar, Raymond P.; Tang, Zhiqun; Lin, Mung Yan; Wright, David W.; Keadey, Matthew 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
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy
2024 Brugger M.; Lauri A.; Zhen Y.; Gramegna L.L.; Zott B.; Sekulić N.; Fasano G.; Kopajtich R.; Cordeddu V.; Radio F.C.; Mancini C.; Pizzi S.; Paradisi G.; Zanni G.; Vasco G.; Carrozzo R.; Palombo F.; Tonon C.; Lodi R.; La Morgia C.; Arelin M.; Blechschmidt C.; Finck T.; Sørensen V.; Kreiser K.; Strobl-Wildemann G.; Daum H.; Michaelson-Cohen R.; Ziccardi L.; Zampino G.; Prokisch H.; Abou Jamra R.; Fiorini C.; Arzberger T.; Winkelmann J.; Caporali L.; Carelli V.; Stenmark H.; Tartaglia M.; Wagner M.
Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican population
2024 Campbell, T.; Slone, J.; Metzger, H.; Liu, W.; Sacharow, S.; Yang, A.; Moosajee, M.; La Morgia, C.; Carelli, V.; Palombo, F.; Lines, M. A.; Innes, A. M.; Levy, R. J.; Neilson, D.; Longo, N.; Huang, T.
Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican population
2024 Campbell, Teresa; Slone, Jesse; Metzger, Hallie; Liu, Wensheng; Sacharow, Stephanie; Yang, Amy; Moosajee, Mariya; La Morgia, Chiara; Carelli, Valerio; Palombo, Flavia; Lines, Matthew A.; Innes, A. Micheil; Levy, Rebecca J.; Neilson, Derek; Longo, Nicola; Huang, Taosheng
Co-occurrence of glial fibrillary acidic protein astrocytopathy in a patient with Leber's hereditary optic neuropathy due to DNAJC30 mutations
2024 Giannoccaro, M. P.; Morelli, L.; Ricciardiello, F.; Donadio, V.; Bartiromo, F.; Tonon, C.; Carbonelli, M.; Amore, G.; Carelli, V.; Liguori, R.; La Morgia, C.
Deep Learning to Discriminate Arteritic From Nonarteritic Ischemic Optic Neuropathy on Color Images
2024 Gungor, Ayse; Najjar, Raymond P.; Hamann, Steffen; Tang, Zhiqun; Lagrèze, Wolf A.; Sadun, Riccardo; Sathianvichitr, Kanchalika; Dinkin, Marc J.; Oliveira, Cristiano; Li, Anfei; Sadun, Federico; Carey, Andrew R.; Bouthour, Walid; Lin, Mung Yan; Loo, Jing-Liang; Miller, Neil R.; Newman, Nancy J.; Biousse, Valérie; Milea, Dan; Null, Null; Petzold, Axel; Gohier, Philippe; Patil, Ajay; Padungkiatsagul, Tanyatuth; Suwan, Yanin; Vanikieti, Kavin; Barboni, Piero; Carelli, Valerio; La Morgia, Chiara; Rougier, Marie-Bénédicte; Costello, Fiona; Bénard-Séguin, Étienne; Milea, Leonard B.; Ambika, Selvakumar; Fonseca, Pedro; Hansen, Michael S.; Küchlin, Sebastian; Farassat, Navid; Sanda, Nicolae; Thumann, Gabriele; Chiquet, Christophe; Yang, Hui; Cheung, Carol Y.; Chan, Carmen Km.; Nakamura, Makoto; Fumio, Takano; Tran, Thi Hc.; Jurkute, Neringa; Yu-Wai-Man, Patrick; Kho, Richard; Jonas, Jost B.; Mejico, Luis J.; Clermont-Vignal, Catherine; Khanna, Raoul K.; Lamirel, Cedric; Touitou, Valérie; Chen, John J.; Hwang, Jeong-Min; Yang, Hee K.; Kim, Dong H.; Aung, Tin; Lamoureux, Ecosse; Schmetterer, Leopold; Leng, Christine Yw.; Girard, Michael Ja.; Fraser, Clare L.; Fard, Masoud A.; Micieli, Jonathan A.
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome
2024 Manzoni E.; Carli S.; Gaignard P.; Schlieben L.D.; Hirano M.; Ronchi D.; Gonzales E.; Shimura M.; Murayama K.; Okazaki Y.; Baric I.; Petkovic Ramadza D.; Karall D.; Mayr J.; Martinelli D.; La Morgia C.; Primiano G.; Santer R.; Servidei S.; Bris C.; Cano A.; Furlan F.; Gasperini S.; Laborde N.; Lamperti C.; Lenz D.; Mancuso M.; Montano V.; Menni F.; Musumeci O.; Nesbitt V.; Procopio E.; Rouzier C.; Staufner C.; Taanman J.-W.; Tal G.; Ticci C.; Cordelli D.M.; Carelli V.; Procaccio V.; Prokisch H.; Garone C.
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant
2024 Blickhäuser, Beryll; Stenton, Sarah L; Neuhofer, Christiane M; Floride, Elisa; Nesbitt, Victoria; Fratter, Carl; Koch, Johannes; Kauffmann, Birgit; Catarino, Claudia; Schlieben, Lea Dewi; Kopajtich, Robert; Carelli, Valerio; Sadun, Alfredo A; Mcfarland, Robert; Fang, Fang; La Morgia, Chiara; Paquay, Stéphanie; Nassogne, Marie Cécile; Ghezzi, Daniele; Lamperti, Costanza; Wortmann, Saskia; Poulton, Jo; Klopstock, Thomas; Prokisch, Holger
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.
Recognizing Leber’s Hereditary Optic Neuropathy to avoid delayed diagnosis and misdiagnosis
2024 La Morgia, C.; Cascavilla, M. L.; De Negri, A. M.; Romano, M.; Canalini, F.; Rossi, S.; Centonze, D.; Filippi, M.
The BONSAI (Brain and Optic Nerve Study with Artificial Intelligence) deep learning system can accurately identify pediatric papilledema on standard ocular fundus photographs
2024 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.
| 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 | - |
| Adult Leigh Syndrome Associated with the m.15635T>C Mitochondrial DNA Variant Affecting the Cytochrome b (MT-CYB) Gene | Tropeano, C. V.; La Morgia, C.; Achilli, A.; Iommarini, L.; Tioli, G.; Caporali, L.; Olivieri, A....; Valentino, M. L.; Liguori, R.; Barboni, P.; Martinuzzi, A.; Tonon, C.; Lodi, R.; Torroni, A.; Carelli, V.; Ghelli, A. M. | 2025-01-01 | INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES | - | 1.01 Articolo in rivista | ijms-26-01116-v2.pdf; ijms-26-01116-s001.zip |
| 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 |
| Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8 | Carli, Sara; Levarlet, Anna; Diodato, Daria; Bertini, Enrico Silvio; Martinelli, Diego; Malandrin...i, Alessandro; Lopergolo, Diego; Gallus, Gian Nicola; Ganetzky, Rebecca D; La Morgia, Chiara; Carelli, Valerio; Primiano, Guido; Domínguez-González, Cristina; Serrano-Lorenzo, Pablo; Martín, Miguel A; Ardissone, Anna; Lamperti, Costanza; Nicoletta, Valeria; Klopstock, Thomas; Distelmaier, Felix; Zeng, Leopold; Büchner, Boriana; Mancuso, Michelangelo; Schuelke, Markus; Prigione, Alessandro; Garone, Caterina | 2025-01-01 | NEUROLOGY | - | 1.01 Articolo in rivista | neurology.pdf |
| A Deep Learning Approach for Accurate Discrimination Between Optic Disc Drusen and Papilledema on Fundus Photographs | Sathianvichitr, K.; Najjar, R. P.; Zhiqun, T.; Fraser, J. A.; Yau, C. W. L.; Girard, M. J. A.; Co...stello, F.; Lin, M. Y.; Lagreze, W. A.; Vignal-Clermont, C.; Fraser, C. L.; Hamann, S.; Newman, N. J.; Biousse, V.; Milea, D.; Petzold, A.; Gohier, P.; Miller, N. R.; Vanikieti, K.; Milea, L.; Carelli, V.; Barboni, P.; La Morgia, C.; Rougier, M. -B.; Benard-Seguin, E.; Ambika, S.; Fonseca, P. L.; Wibroe, E. A.; Kuchlin, S.; Sanda, N.; Chiquet, C.; Yang, H.; Chan, C. K. M.; Cheung, C. Y.; Kilangalanga, J. N.; Nakamura, M.; Fumio, T.; Jurkute, N.; Yu-Wai-Man, P.; Kho, R.; Jonas, J.; Dinkin, M. J.; Chen, J. J.; Sadun, R.; Hwang, J. -M.; Kim, D. H.; Yang, H. K.; Loo, J. L.; Schmetterer, L.; Lamoureux, E.; Aung, T.; Ting, D.; Wong, T. Y.; Ming Foo, R. C.; Singhal, S.; Lee Choon Tow, S.; Vasseneix, C.; Mejico, L. J.; Fard, M. A.; Micieli, J. A.; Bikbov, M. M. | 2024-01-01 | JOURNAL OF NEURO-OPHTHALMOLOGY | - | 1.01 Articolo in rivista | - |
| 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 | - |
| Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy | Brugger M.; Lauri A.; Zhen Y.; Gramegna L.L.; Zott B.; Sekulić N.; Fasano G.; Kopajtich R.; Corde...ddu V.; Radio F.C.; Mancini C.; Pizzi S.; Paradisi G.; Zanni G.; Vasco G.; Carrozzo R.; Palombo F.; Tonon C.; Lodi R.; La Morgia C.; Arelin M.; Blechschmidt C.; Finck T.; Sørensen V.; Kreiser K.; Strobl-Wildemann G.; Daum H.; Michaelson-Cohen R.; Ziccardi L.; Zampino G.; Prokisch H.; Abou Jamra R.; Fiorini C.; Arzberger T.; Winkelmann J.; Caporali L.; Carelli V.; Stenmark H.; Tartaglia M.; Wagner M. | 2024-01-01 | AMERICAN JOURNAL OF HUMAN GENETICS | - | 1.01 Articolo in rivista | ScienceDirect_files_07Nov2024_15-01-25.977.zip; Brugger_AJHG_2024.pdf |
| Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican population | Campbell, T.; Slone, J.; Metzger, H.; Liu, W.; Sacharow, S.; Yang, A.; Moosajee, M.; La Morgia, C....; Carelli, V.; Palombo, F.; Lines, M. A.; Innes, A. M.; Levy, R. J.; Neilson, D.; Longo, N.; Huang, T. | 2024-01-01 | GENETICS IN MEDICINE OPEN | - | 1.01 Articolo in rivista | Clinical study of ferredoxin.pdf; 1-s2.0-S2949774423008506-mmc1.pdf |
| Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican population | Campbell, Teresa; Slone, Jesse; Metzger, Hallie; Liu, Wensheng; Sacharow, Stephanie; Yang, Amy; M...oosajee, Mariya; La Morgia, Chiara; Carelli, Valerio; Palombo, Flavia; Lines, Matthew A.; Innes, A. Micheil; Levy, Rebecca J.; Neilson, Derek; Longo, Nicola; Huang, Taosheng | 2024-01-01 | GENETICS IN MEDICINE OPEN | - | 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 |
| Deep Learning to Discriminate Arteritic From Nonarteritic Ischemic Optic Neuropathy on Color Images | Gungor, Ayse; Najjar, Raymond P.; Hamann, Steffen; Tang, Zhiqun; Lagrèze, Wolf A.; Sadun, Riccard...o; Sathianvichitr, Kanchalika; Dinkin, Marc J.; Oliveira, Cristiano; Li, Anfei; Sadun, Federico; Carey, Andrew R.; Bouthour, Walid; Lin, Mung Yan; Loo, Jing-Liang; Miller, Neil R.; Newman, Nancy J.; Biousse, Valérie; Milea, Dan; Null, Null; Petzold, Axel; Gohier, Philippe; Patil, Ajay; Padungkiatsagul, Tanyatuth; Suwan, Yanin; Vanikieti, Kavin; Barboni, Piero; Carelli, Valerio; La Morgia, Chiara; Rougier, Marie-Bénédicte; Costello, Fiona; Bénard-Séguin, Étienne; Milea, Leonard B.; Ambika, Selvakumar; Fonseca, Pedro; Hansen, Michael S.; Küchlin, Sebastian; Farassat, Navid; Sanda, Nicolae; Thumann, Gabriele; Chiquet, Christophe; Yang, Hui; Cheung, Carol Y.; Chan, Carmen Km.; Nakamura, Makoto; Fumio, Takano; Tran, Thi Hc.; Jurkute, Neringa; Yu-Wai-Man, Patrick; Kho, Richard; Jonas, Jost B.; Mejico, Luis J.; Clermont-Vignal, Catherine; Khanna, Raoul K.; Lamirel, Cedric; Touitou, Valérie; Chen, John J.; Hwang, Jeong-Min; Yang, Hee K.; Kim, Dong H.; Aung, Tin; Lamoureux, Ecosse; Schmetterer, Leopold; Leng, Christine Yw.; Girard, Michael Ja.; Fraser, Clare L.; Fard, Masoud A.; Micieli, Jonathan A. | 2024-01-01 | JAMA OPHTHALMOLOGY | - | 1.01 Articolo in rivista | - |
| Deoxyguanosine kinase deficiency: natural history and liver transplant outcome | Manzoni E.; Carli S.; Gaignard P.; Schlieben L.D.; Hirano M.; Ronchi D.; Gonzales E.; Shimura M.;... Murayama K.; Okazaki Y.; Baric I.; Petkovic Ramadza D.; Karall D.; Mayr J.; Martinelli D.; La Morgia C.; Primiano G.; Santer R.; Servidei S.; Bris C.; Cano A.; Furlan F.; Gasperini S.; Laborde N.; Lamperti C.; Lenz D.; Mancuso M.; Montano V.; Menni F.; Musumeci O.; Nesbitt V.; Procopio E.; Rouzier C.; Staufner C.; Taanman J.-W.; Tal G.; Ticci C.; Cordelli D.M.; Carelli V.; Procaccio V.; Prokisch H.; Garone C. | 2024-01-01 | BRAIN COMMUNICATIONS | - | 1.01 Articolo in rivista | dGK_Manzonietal.pdf; fcae160_supplementary_data.zip |
| Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant | Blickhäuser, Beryll; Stenton, Sarah L; Neuhofer, Christiane M; Floride, Elisa; Nesbitt, Victoria;... Fratter, Carl; Koch, Johannes; Kauffmann, Birgit; Catarino, Claudia; Schlieben, Lea Dewi; Kopajtich, Robert; Carelli, Valerio; Sadun, Alfredo A; Mcfarland, Robert; Fang, Fang; La Morgia, Chiara; Paquay, Stéphanie; Nassogne, Marie Cécile; Ghezzi, Daniele; Lamperti, Costanza; Wortmann, Saskia; Poulton, Jo; Klopstock, Thomas; Prokisch, Holger | 2024-01-01 | BRAIN | - | 1.01 Articolo in rivista | - |
| 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 |
| Recognizing Leber’s Hereditary Optic Neuropathy to avoid delayed diagnosis and misdiagnosis | La Morgia, C.; Cascavilla, M. L.; De Negri, A. M.; Romano, M.; Canalini, F.; Rossi, S.; Centonze,... D.; Filippi, M. | 2024-01-01 | FRONTIERS IN NEUROLOGY | - | 1.01 Articolo in rivista | fneur-15-1466275.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 | - |