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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: jurkute n. Brain Commun. 2021 Apr 7;3(2):fcab063. doi: 10.1093/braincomms/fcab063. eCollection 2021. Brain Commun. 2021. PMID: 34056600 Free PMC article.
Leber Hereditary Optic Neuropathy-Light at the End of the Tunnel?
Kim US, Jurkute N, Yu-Wai-Man P. Kim US, et al. Among authors: jurkute n. Asia Pac J Ophthalmol (Phila). 2018 Jul-Aug;7(4):242-245. doi: 10.22608/APO.2018293. Epub 2018 Jul 15. Asia Pac J Ophthalmol (Phila). 2018. PMID: 30008192 Free article. Review.
SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.
Jurkute N, Leu C, Pogoda HM, Arno G, Robson AG, Nürnberg G, Altmüller J, Thiele H, Motameny S, Toliat MR, Powell K, Höhne W, Michaelides M, Webster AR, Moore AT, Hammerschmidt M, Nürnberg P, Yu-Wai-Man P, Votruba M. Jurkute N, et al. Ann Neurol. 2019 Sep;86(3):368-383. doi: 10.1002/ana.25550. Epub 2019 Jul 31. Ann Neurol. 2019. PMID: 31298765 Free PMC article.
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
Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom.
Pontikos N, Arno G, Jurkute N, Schiff E, Ba-Abbad R, Malka S, Gimenez A, Georgiou M, Wright G, Armengol M, Knight H, Katz M, Moosajee M, Yu-Wai-Man P, Moore AT, Michaelides M, Webster AR, Mahroo OA. Pontikos N, et al. Among authors: jurkute n. Ophthalmology. 2020 Oct;127(10):1384-1394. doi: 10.1016/j.ophtha.2020.04.008. Epub 2020 Apr 16. Ophthalmology. 2020. PMID: 32423767 Free PMC article.
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy.
Charif M, Chevrollier A, Gueguen N, Bris C, Goudenège D, Desquiret-Dumas V, Leruez S, Colin E, Meunier A, Vignal C, Smirnov V, Defoort-Dhellemmes S, Drumare Bouvet I, Goizet C, Votruba M, Jurkute N, Yu-Wai-Man P, Tagliavini F, Caporali L, La Morgia C, Carelli V, Procaccio V, Zanlonghi X, Meunier I, Reynier P, Bonneau D, Amati-Bonneau P, Lenaers G. Charif M, et al. Among authors: jurkute n. Neurol Genet. 2020 May 20;6(3):e428. doi: 10.1212/NXG.0000000000000428. eCollection 2020 Jun. Neurol Genet. 2020. PMID: 32548275 Free PMC article.
Efficacy and Safety of Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy Treated within 6 Months of Disease Onset.
Newman NJ, Yu-Wai-Man P, Carelli V, Moster ML, Biousse V, Vignal-Clermont C, Sergott RC, Klopstock T, Sadun AA, Barboni P, DeBusk AA, Girmens JF, Rudolph G, Karanjia R, Taiel M, Blouin L, Smits G, Katz B, Sahel JA; LHON Study Group. Newman NJ, et al. Ophthalmology. 2021 May;128(5):649-660. doi: 10.1016/j.ophtha.2020.12.012. Epub 2021 Jan 12. Ophthalmology. 2021. PMID: 33451738 Free article. Clinical Trial.
45 results