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Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model.
Jurkute N, Bertacchi M, Arno G, Tocco C, Kim US, Kruszewski AM, Avery RA, Bedoukian EC, Han J, Ahn SJ, Pontikos N, Acheson J, Davagnanam I, Bowman R, Kaliakatsos M, Gardham A, Wakeling E, Oluonye N, Reddy MA, Clark E, Rosser E, Amati-Bonneau P, Charif M, Lenaers G, Meunier I, Defoort S, Vincent-Delorme C, Robson AG, Holder GE, Jeanjean L, Martinez-Monseny A, Vidal-Santacana M, Dominici C, Gaggioli C, Giordano N, Caleo M, Liu GT; Genomics England Research Consortium; Webster AR, Studer M, Yu-Wai-Man P. Jurkute N, et al. Among authors: acheson j. Brain Commun. 2021 Jul 20;3(3):fcab162. doi: 10.1093/braincomms/fcab162. eCollection 2021. Brain Commun. 2021. PMID: 34466801 Free PMC article.
Electrodiagnostic assessment in optic nerve disease.
Holder GE, Gale RP, Acheson JF, Robson AG. Holder GE, et al. Curr Opin Neurol. 2009 Feb;22(1):3-10. doi: 10.1097/WCO.0b013e328320264c. Curr Opin Neurol. 2009. PMID: 19155758 Review.
Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature.
Jurkute N, Shanmugarajah PD, Hadjivassiliou M, Higgs J, Vojcic M, Horrocks I, Nadjar Y, Touitou V, Lenaers G, Poh R, Acheson J, Robson AG, Raymond FL, Reilly MM, Yu-Wai-Man P, Moore AT, Webster AR, Arno G; Genomics England Research Consortium. Jurkute N, et al. Among authors: acheson j. Invest Ophthalmol Vis Sci. 2021 May 3;62(6):2. doi: 10.1167/iovs.62.6.2. Invest Ophthalmol Vis Sci. 2021. PMID: 33938912 Free PMC article.
Central Nervous System Lymphoma Mimicking Demyelinating Disease-A Case Report.
Foster MA, Collorone S, Rose G, Plowman PN, Thom M, Davagnanam I, Acheson J, Toosy AT. Foster MA, et al. Among authors: acheson j. J Neuroophthalmol. 2024 Mar 1;44(1):e55-e57. doi: 10.1097/WNO.0000000000001621. Epub 2022 Jun 8. J Neuroophthalmol. 2024. PMID: 36166769 No abstract available.
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.
Indirect Comparison of Lenadogene Nolparvovec Gene Therapy Versus Natural History in Patients with Leber Hereditary Optic Neuropathy Carrying the m.11778G>A MT-ND4 Mutation.
Carelli V, Newman NJ, Yu-Wai-Man P, Biousse V, Moster ML, Subramanian PS, Vignal-Clermont C, Wang AG, Donahue SP, Leroy BP, Sergott RC, Klopstock T, Sadun AA, Rebolleda Fernández G, Chwalisz BK, Banik R, Girmens JF, La Morgia C, DeBusk AA, Jurkute N, Priglinger C, Karanjia R, Josse C, Salzmann J, Montestruc F, Roux M, Taiel M, Sahel JA; the LHON Study Group. Carelli V, et al. Ophthalmol Ther. 2023 Feb;12(1):401-429. doi: 10.1007/s40123-022-00611-x. Epub 2022 Nov 30. Ophthalmol Ther. 2023. PMID: 36449262 Free PMC article.
Detecting optic nerve head swelling on ultrasound and optical coherence tomography in children and young people: an observational study.
Dahlmann-Noor AH, Adams GW, Daniel MC, Davis A, Hancox J, Hingorani M, Ibanez P, McPhee B, Patel H, Restori M, Roberts C, Theodorou M, Acheson J. Dahlmann-Noor AH, et al. Among authors: acheson j. Br J Ophthalmol. 2018 Mar;102(3):318-322. doi: 10.1136/bjophthalmol-2017-310196. Epub 2017 Jun 21. Br J Ophthalmol. 2018. PMID: 28637781
149 results