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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: gohier p. Brain Commun. 2021 Apr 7;3(2):fcab063. doi: 10.1093/braincomms/fcab063. eCollection 2021. Brain Commun. 2021. PMID: 34056600 Free PMC article.
A Plasma Metabolomic Signature of the Exfoliation Syndrome Involves Amino Acids, Acylcarnitines, and Polyamines.
Leruez S, Bresson T, Chao de la Barca JM, Marill A, de Saint Martin G, Buisset A, Muller J, Tessier L, Gadras C, Verny C, Amati-Bonneau P, Lenaers G, Gohier P, Bonneau D, Simard G, Milea D, Procaccio V, Reynier P. Leruez S, et al. Among authors: gohier p. Invest Ophthalmol Vis Sci. 2018 Feb 1;59(2):1025-1032. doi: 10.1167/iovs.17-23055. Invest Ophthalmol Vis Sci. 2018. PMID: 29450546 Free article.
A Metabolomics Profiling of Glaucoma Points to Mitochondrial Dysfunction, Senescence, and Polyamines Deficiency.
Leruez S, Marill A, Bresson T, de Saint Martin G, Buisset A, Muller J, Tessier L, Gadras C, Verny C, Gohier P, Amati-Bonneau P, Lenaers G, Bonneau D, Simard G, Milea D, Procaccio V, Reynier P, Chao de la Barca JM. Leruez S, et al. Among authors: gohier p. Invest Ophthalmol Vis Sci. 2018 Sep 4;59(11):4355-4361. doi: 10.1167/iovs.18-24938. Invest Ophthalmol Vis Sci. 2018. PMID: 30193307
Metabolomic Profiling of Aqueous Humor in Glaucoma Points to Taurine and Spermine Deficiency: Findings from the Eye-D Study.
Buisset A, Gohier P, Leruez S, Muller J, Amati-Bonneau P, Lenaers G, Bonneau D, Simard G, Procaccio V, Annweiler C, Milea D, Reynier P, Chao de la Barca JM. Buisset A, et al. Among authors: gohier p. J Proteome Res. 2019 Mar 1;18(3):1307-1315. doi: 10.1021/acs.jproteome.8b00915. Epub 2019 Feb 11. J Proteome Res. 2019. PMID: 30701980
Nicotinamide Deficiency in Primary Open-Angle Glaucoma.
Kouassi Nzoughet J, Chao de la Barca JM, Guehlouz K, Leruez S, Coulbault L, Allouche S, Bocca C, Muller J, Amati-Bonneau P, Gohier P, Bonneau D, Simard G, Milea D, Lenaers G, Procaccio V, Reynier P. Kouassi Nzoughet J, et al. Among authors: gohier p. Invest Ophthalmol Vis Sci. 2019 Jun 3;60(7):2509-2514. doi: 10.1167/iovs.19-27099. Invest Ophthalmol Vis Sci. 2019. PMID: 31185090
A Data Mining Metabolomics Exploration of Glaucoma.
Kouassi Nzoughet J, Guehlouz K, Leruez S, Gohier P, Bocca C, Muller J, Blanchet O, Bonneau D, Simard G, Milea D, Procaccio V, Lenaers G, Chao de la Barca JM, Reynier P. Kouassi Nzoughet J, et al. Among authors: gohier p. Metabolites. 2020 Jan 28;10(2):49. doi: 10.3390/metabo10020049. Metabolites. 2020. PMID: 32012845 Free PMC article.
A Plasma Metabolomic Profiling of Exudative Age-Related Macular Degeneration Showing Carnosine and Mitochondrial Deficiencies.
Chao de la Barca JM, Rondet-Courbis B, Ferré M, Muller J, Buisset A, Leruez S, Plubeau G, Macé T, Moureauzeau L, Chupin S, Tessier L, Blanchet O, Lenaers G, Procaccio V, Mirebeau-Prunier D, Simard G, Gohier P, Miléa D, Reynier P. Chao de la Barca JM, et al. Among authors: gohier p. J Clin Med. 2020 Feb 27;9(3):631. doi: 10.3390/jcm9030631. J Clin Med. 2020. PMID: 32120889 Free PMC article.
Optic Disc Classification by Deep Learning versus Expert Neuro-Ophthalmologists.
Biousse V, Newman NJ, Najjar RP, Vasseneix C, Xu X, Ting DS, Milea LB, Hwang JM, Kim DH, Yang HK, Hamann S, Chen JJ, Liu Y, Wong TY, Milea D; BONSAI (Brain and Optic Nerve Study with Artificial Intelligence) Study Group. Biousse V, et al. Ann Neurol. 2020 Oct;88(4):785-795. doi: 10.1002/ana.25839. Epub 2020 Aug 7. Ann Neurol. 2020. PMID: 32621348
48 results