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159 results

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Page 1
Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: The LEROS nonrandomized controlled trial.
Yu-Wai-Man P, Carelli V, Newman NJ, Silva MJ, Linden A, Van Stavern G, Szaflik JP, Banik R, Lubiński W, Pemp B, Liao YJ, Subramanian PS, Misiuk-Hojło M, Newman S, Castillo L, Kocięcki J, Levin MH, Muñoz-Negrete FJ, Yagan A, Cherninkova S, Katz D, Meunier A, Votruba M, Korwin M, Dziedziak J, Jurkutė N, Harvey JP, La Morgia C, Priglinger C, Llòria X, Tomasso L, Klopstock T; LEROS Study Group. Yu-Wai-Man P, et al. Among authors: la morgia c. Cell Rep Med. 2024 Mar 19;5(3):101437. doi: 10.1016/j.xcrm.2024.101437. Epub 2024 Feb 29. Cell Rep Med. 2024. PMID: 38428428 Free PMC article. Clinical Trial.
Artificial Intelligence to Detect Papilledema from Ocular Fundus Photographs.
Milea D, Najjar RP, Zhubo J, Ting D, Vasseneix C, Xu X, Aghsaei Fard M, Fonseca P, Vanikieti K, Lagrèze WA, La Morgia C, Cheung CY, Hamann S, Chiquet C, Sanda N, Yang H, Mejico LJ, Rougier M-B, Kho R, Thi Ha Chau T, Singhal S, Gohier P, Clermont-Vignal C, Cheng C-Y, Jonas JB, Yu-Wai-Man P, Fraser CL, Chen JJ, Ambika S, Miller NR, Liu Y, Newman NJ, Wong TY, Biousse V; BONSAI Group. Milea D, et al. Among authors: la morgia c. N Engl J Med. 2020 Apr 30;382(18):1687-1695. doi: 10.1056/NEJMoa1917130. Epub 2020 Apr 14. N Engl J Med. 2020. PMID: 32286748
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.
Manzoni E, Carli S, Gaignard P, Schlieben LD, Hirano M, Ronchi D, Gonzales E, Shimura M, Murayama K, Okazaki Y, Barić 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 JW, Tal G, Ticci C, Cordelli DM, Carelli V, Procaccio V, Prokisch H, Garone C. Manzoni E, et al. Among authors: la morgia c. Brain Commun. 2024 May 6;6(3):fcae160. doi: 10.1093/braincomms/fcae160. eCollection 2024. Brain Commun. 2024. PMID: 38756539 Free PMC article.
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.
Blickhäuser B, Stenton SL, Neuhofer CM, Floride E, Nesbitt V, Fratter C, Koch J, Kauffmann B, Catarino C, Schlieben LD, Kopajtich R, Carelli V, Sadun AA, McFarland R, Fang F, La Morgia C, Paquay S, Nassogne MC, Ghezzi D, Lamperti C, Wortmann S, Poulton J, Klopstock T, Prokisch H. Blickhäuser B, et al. Among authors: la morgia c. Brain. 2024 Mar 13:awae057. doi: 10.1093/brain/awae057. Online ahead of print. Brain. 2024. PMID: 38478578
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 LL, Zott B, Sekulić N, Fasano G, Kopajtich R, Cordeddu V, Radio FC, 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. Brugger M, et al. Among authors: la morgia c. Am J Hum Genet. 2024 Mar 7;111(3):594-613. doi: 10.1016/j.ajhg.2024.02.005. Epub 2024 Feb 28. Am J Hum Genet. 2024. PMID: 38423010 Free PMC article.
AFG3L2 and ACO2-Linked Dominant Optic Atrophy: Genotype-Phenotype Characterization Compared to OPA1 Patients.
Amore G, Romagnoli M, Carbonelli M, Cascavilla ML, De Negri AM, Carta A, Parisi V, Di Renzo A, Schiavi C, Lenzetti C, Zenesini C, Ormanbekova D, Palombo F, Fiorini C, Caporali L, Carelli V, Barboni P, La Morgia C. Amore G, et al. Among authors: la morgia c. Am J Ophthalmol. 2024 Jun;262:114-124. doi: 10.1016/j.ajo.2024.01.011. Epub 2024 Jan 24. Am J Ophthalmol. 2024. PMID: 38278202 Free article.
Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy.
Aleo SJ, Del Dotto V, Romagnoli M, Fiorini C, Capirossi G, Peron C, Maresca A, Caporali L, Capristo M, Tropeano CV, Zanna C, Ross-Cisneros FN, Sadun AA, Pignataro MG, Giordano C, Fasano C, Cavaliere A, Porcelli AM, Tioli G, Musiani F, Catania A, Lamperti C, Marzoli SB, De Negri A, Cascavilla ML, 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 CB, Klopstock T, Tiranti V, Carelli V, Ghelli AM. Aleo SJ, et al. Among authors: la morgia c. Cell Rep Med. 2024 Feb 20;5(2):101383. doi: 10.1016/j.xcrm.2023.101383. Epub 2024 Jan 24. Cell Rep Med. 2024. PMID: 38272025 Free PMC article.
The BONSAI (Brain and Optic Nerve Study with Artificial Intelligence) deep learning system can accurately identify pediatric papilledema on standard ocular fundus photographs.
Lin MY, Najjar RP, Tang Z, Cioplean D, Dragomir M, Chia A, Patil A, Vasseneix C, Peragallo JH, Newman NJ, Biousse V, Milea D; BONSAI (Brain and Optic Nerve Study with Artificial Intelligence) group. Lin MY, et al. J AAPOS. 2024 Feb;28(1):103803. doi: 10.1016/j.jaapos.2023.10.005. Epub 2024 Jan 10. J AAPOS. 2024. PMID: 38216117
159 results