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Is the disease risk and penetrance in Leber hereditary optic neuropathy actually low?
Mackey DA, Ong JS, MacGregor S, Whiteman DC, Craig JE, Lopez Sanchez MIG, Kearns LS, Staffieri SE, Clarke L, McGuinness MB, Meteoukki W, Samuel S, Ruddle JB, Chen C, Fraser CL, Harrison J, Howell N, Hewitt AW. Mackey DA, et al. Among authors: fraser cl. Am J Hum Genet. 2023 Jan 5;110(1):170-176. doi: 10.1016/j.ajhg.2022.11.014. Epub 2022 Dec 23. Am J Hum Genet. 2023. PMID: 36565701 Free PMC article.
Establishing risk of vision loss in Leber hereditary optic neuropathy.
Lopez Sanchez MIG, Kearns LS, Staffieri SE, Clarke L, McGuinness MB, Meteoukki W, Samuel S, Ruddle JB, Chen C, Fraser CL, Harrison J, Hewitt AW, Howell N, Mackey DA. Lopez Sanchez MIG, et al. Among authors: fraser cl. Am J Hum Genet. 2021 Nov 4;108(11):2159-2170. doi: 10.1016/j.ajhg.2021.09.015. Epub 2021 Oct 19. Am J Hum Genet. 2021. PMID: 34670133 Free PMC article.
Fundoscopy use in neurology departments and the utility of smartphone photography: a prospective prevalence and crossover diagnostic accuracy study amongst neurology inpatients.
He G, Dunn HP, Ahmad KE, Watson E, Henderson A, Tynan D, Leaney J, White AJ, Hewitt AW, Fraser CL. He G, et al. Among authors: fraser cl. Eur J Neurol. 2022 Aug;29(8):2463-2472. doi: 10.1111/ene.15390. Epub 2022 May 31. Eur J Neurol. 2022. PMID: 35531644 Free PMC article. Clinical Trial.
Real-World Clinical Experience With Idebenone in the Treatment of Leber Hereditary Optic Neuropathy.
Catarino CB, von Livonius B, Priglinger C, Banik R, Matloob S, Tamhankar MA, Castillo L, Friedburg C, Halfpenny CA, Lincoln JA, Traber GL, Acaroglu G, Black GCM, Doncel C, Fraser CL, Jakubaszko J, Landau K, Langenegger SJ, Muñoz-Negrete FJ, Newman NJ, Poulton J, Scoppettuolo E, Subramanian P, Toosy AT, Vidal M, Vincent AL, Votruba M, Zarowski M, Zermansky A, Lob F, Rudolph G, Mikazans O, Silva M, Llòria X, Metz G, Klopstock T. Catarino CB, et al. Among authors: fraser cl. J Neuroophthalmol. 2020 Dec;40(4):558-565. doi: 10.1097/WNO.0000000000001023. J Neuroophthalmol. 2020. PMID: 32991388 Free PMC article. Clinical Trial.
Compressive Optic Neuropathy from Allergic Fungal Sinusitis.
Tong J, Jefferson N, Chaganti J, Fraser CL. Tong J, et al. Among authors: fraser cl. Neuroophthalmology. 2015 Aug 21;39(5):236-239. doi: 10.3109/01658107.2015.1056380. eCollection 2015 Oct. Neuroophthalmology. 2015. PMID: 27928361 Free PMC article.
211 results