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1999 1
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2010 11
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121 results

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Page 1
Dominant ACO2 mutations are a frequent cause of isolated optic atrophy.
Charif M, Gueguen N, Ferré M, Elkarhat Z, Khiati S, LeMao M, Chevrollier A, Desquiret-Dumas V, Goudenège D, Bris C, Kane S, Alban J, Chupin S, Wetterwald C, Caporali L, Tagliavini F, LaMorgia C, Carbonelli M, Jurkute N, Barakat A, Gohier P, Verny C, Barth M, Procaccio V, Bonneau D, Zanlonghi X, Meunier I, Weisschuh N, Schimpf-Linzenbold S, Tonagel F, Kellner U, Yu-Wai-Man P, Carelli V, Wissinger B, Amati-Bonneau P, Reynier P; European ION Group; Lenaers G. Charif M, et al. Among authors: carbonelli m. Brain Commun. 2021 Apr 7;3(2):fcab063. doi: 10.1093/braincomms/fcab063. eCollection 2021. Brain Commun. 2021. PMID: 34056600 Free PMC article.
Medical Nutrition Therapy in Dermatological Diseases: A Joint Consensus Statement of the Italian Association of Dietetics and Clinical Nutrition (ADI), the Italian Society of Dermatology and Sexually Transmitted Diseases (SIDeMaST), the Italian Society of Nutraceuticals (SINut), Club Ketodiets and Nutraceuticals "KetoNut-SINut" and the Italian Society of Endocrinology (SIE), Club Nutrition, Hormones and Metabolism.
Barrea L, Verde L, Annunziata G, Antiga E, Camajani E, Caprio M, Carbonelli MG, Carducci A, Cava E, Di Marco G, Grassi D, Guida S, Martinelli B, Marzano AV, Moltrasio C, Petrelli M, Prignano F, Rongioletti F, Savastano S, Paolini B, Bagnato C, Argenziano G, Cicero AFG, Colao A, Ferone D, Aimaretti G, Muscogiuri G. Barrea L, et al. Among authors: carbonelli mg. Curr Obes Rep. 2025 May 13;14(1):42. doi: 10.1007/s13679-025-00630-2. Curr Obes Rep. 2025. PMID: 40358870 Free PMC article. Review.
Five-Year Outcomes of Lenadogene Nolparvovec Gene Therapy in Leber Hereditary Optic Neuropathy.
Yu-Wai-Man P, Newman NJ, Biousse V, Carelli V, Moster ML, Vignal-Clermont C, Klopstock T, Sadun AA, Sergott RC, Hage R, Degli Esposti S, La Morgia C, Priglinger C, Karanja R, Taiel M, Sahel JA; LHON Study Group. Yu-Wai-Man P, et al. JAMA Ophthalmol. 2025 Feb 1;143(2):99-108. doi: 10.1001/jamaophthalmol.2024.5375. JAMA Ophthalmol. 2025. PMID: 39699886 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. 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
Therapeutic Options in Hereditary Optic Neuropathies.
Amore G, Romagnoli M, Carbonelli M, Barboni P, Carelli V, La Morgia C. Amore G, et al. Among authors: carbonelli m. Drugs. 2021 Jan;81(1):57-86. doi: 10.1007/s40265-020-01428-3. Drugs. 2021. PMID: 33159657 Free PMC article. Review.
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: carbonelli m. 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.
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: carbonelli m. 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.
Medical management of hereditary optic neuropathies.
La Morgia C, Carbonelli M, Barboni P, Sadun AA, Carelli V. La Morgia C, et al. Among authors: carbonelli m. Front Neurol. 2014 Jul 31;5:141. doi: 10.3389/fneur.2014.00141. eCollection 2014. Front Neurol. 2014. PMID: 25132831 Free PMC article. Review.
Chromatic Pupillometry Findings in Alzheimer's Disease.
Romagnoli M, Stanzani Maserati M, De Matteis M, Capellari S, Carbonelli M, Amore G, Cantalupo G, Zenesini C, Liguori R, Sadun AA, Carelli V, Park JC, La Morgia C. Romagnoli M, et al. Among authors: carbonelli m. Front Neurosci. 2020 Aug 11;14:780. doi: 10.3389/fnins.2020.00780. eCollection 2020. Front Neurosci. 2020. PMID: 32848556 Free PMC article.
The m.3890G>A/MT-ND1 mtDNA rare pathogenic variant: Expanding clinical and MRI phenotypes.
Vacchiano V, Caporali L, La Morgia C, Carbonelli M, Amore G, Bartolomei I, Cascavilla ML, Barboni P, Lamperti C, Catania A, Chan JW, Karanja R, Sadun AA, Liguori R, Bianchi A, Gavazzi G, Mascalchi M, Salvi F, Carelli V. Vacchiano V, et al. Among authors: carbonelli m. Mitochondrion. 2021 Sep;60:142-149. doi: 10.1016/j.mito.2021.08.007. Epub 2021 Aug 11. Mitochondrion. 2021. PMID: 34390870
121 results