Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1986 1
2009 2
2010 2
2011 2
2012 4
2013 5
2014 7
2015 8
2016 5
2017 6
2018 10
2019 3
2020 11
2021 15
2022 20
2023 8
2024 7
2025 4

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

104 results

Results by year

Filters applied: . Clear all
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: caporali l. Brain Commun. 2021 Apr 7;3(2):fcab063. doi: 10.1093/braincomms/fcab063. eCollection 2021. Brain Commun. 2021. PMID: 34056600 Free PMC article.
Mitochondrial diseases in adults.
La Morgia C, Maresca A, Caporali L, Valentino ML, Carelli V. La Morgia C, et al. Among authors: caporali l. J Intern Med. 2020 Jun;287(6):592-608. doi: 10.1111/joim.13064. J Intern Med. 2020. PMID: 32463135 Free article. Review.
Recessive MECR pathogenic variants cause an LHON-like optic neuropathy.
Fiorini C, Degiorgi A, Cascavilla ML, Tropeano CV, La Morgia C, Battista M, Ormanbekova D, Palombo F, Carbonelli M, Bandello F, Carelli V, Maresca A, Barboni P, Baruffini E, Caporali L. Fiorini C, et al. Among authors: caporali l. J Med Genet. 2023 Dec 21;61(1):93-101. doi: 10.1136/jmg-2023-109340. J Med Genet. 2023. PMID: 37734847 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: caporali l. 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.
Incomplete penetrance in mitochondrial optic neuropathies.
Caporali L, Maresca A, Capristo M, Del Dotto V, Tagliavini F, Valentino ML, La Morgia C, Carelli V. Caporali L, et al. Mitochondrion. 2017 Sep;36:130-137. doi: 10.1016/j.mito.2017.07.004. Epub 2017 Jul 14. Mitochondrion. 2017. PMID: 28716668 Review.
Anti-VEGF therapy selects for clones resistant to glucose starvation in ovarian cancer xenografts.
Boso D, Tognon M, Curtarello M, Minuzzo S, Piga I, Brillo V, Lazzarini E, Carlet J, Marra L, Trento C, Rasola A, Masgras I, Caporali L, Del Ben F, Brisotto G, Turetta M, Pastorelli R, Brunelli L, Navaglia F, Esposito G, Grassi A, Indraccolo S. Boso D, et al. Among authors: caporali l. J Exp Clin Cancer Res. 2023 Aug 7;42(1):196. doi: 10.1186/s13046-023-02779-x. J Exp Clin Cancer Res. 2023. PMID: 37550722 Free PMC 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: caporali l. 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.
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: caporali l. 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.
The Pattern of Retinal Ganglion Cell Loss in Wolfram Syndrome is Distinct From Mitochondrial Optic Neuropathies.
Barboni P, Amore G, Cascavilla ML, Battista M, Frontino G, Romagnoli M, Caporali L, Baldoli C, Gramegna LL, 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. Barboni P, et al. Among authors: caporali l. Am J Ophthalmol. 2022 Sep;241:206-216. doi: 10.1016/j.ajo.2022.03.019. Epub 2022 Apr 20. Am J Ophthalmol. 2022. PMID: 35452662 Review.
The optic nerve: a "mito-window" on mitochondrial neurodegeneration.
Maresca A, la Morgia C, Caporali L, Valentino ML, Carelli V. Maresca A, et al. Among authors: caporali l. Mol Cell Neurosci. 2013 Jul;55(100):62-76. doi: 10.1016/j.mcn.2012.08.004. Epub 2012 Aug 15. Mol Cell Neurosci. 2013. PMID: 22960139 Free PMC article. Review.
104 results