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WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression.
Majander A, Jurkute N, Burté F, Brock K, João C, Huang H, Neveu MM, Chan CM, Duncan HJ, Kelly S, Burkitt-Wright E, Khoyratty F, Lai YT, Subash M, Chinnery PF, Bitner-Glindzicz M, Arno G, Webster AR, Moore AT, Michaelides M, Stockman A, Robson AG, Yu-Wai-Man P. Majander A, et al. Among authors: chinnery pf. Am J Ophthalmol. 2022 Sep;241:9-27. doi: 10.1016/j.ajo.2022.04.003. Epub 2022 Apr 22. Am J Ophthalmol. 2022. PMID: 35469785 Free article.
Leber hereditary optic neuropathy.
Yu-Wai-Man P, Turnbull DM, Chinnery PF. Yu-Wai-Man P, et al. Among authors: chinnery pf. J Med Genet. 2002 Mar;39(3):162-9. doi: 10.1136/jmg.39.3.162. J Med Genet. 2002. PMID: 11897814 Free PMC article. Review.
Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder.
Hudson G, Keers S, Yu-Wai-Man P, Griffiths P, Huoponen K, Savontaus ML, Nikoskelainen E, Zeviani M, Carrara F, Horvath R, Karcagi V, Spruijt L, de Coo IF, Smeets HJ, Chinnery PF. Hudson G, et al. Among authors: chinnery pf. Am J Hum Genet. 2005 Dec;77(6):1086-91. doi: 10.1086/498176. Epub 2005 Oct 11. Am J Hum Genet. 2005. PMID: 16380918 Free PMC article.
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background.
Hudson G, Carelli V, Spruijt L, Gerards M, Mowbray C, Achilli A, Pyle A, Elson J, Howell N, La Morgia C, Valentino ML, Huoponen K, Savontaus ML, Nikoskelainen E, Sadun AA, Salomao SR, Belfort R Jr, Griffiths P, Yu-Wai-Man P, de Coo RF, Horvath R, Zeviani M, Smeets HJ, Torroni A, Chinnery PF. Hudson G, et al. Among authors: chinnery pf. Am J Hum Genet. 2007 Aug;81(2):228-33. doi: 10.1086/519394. Epub 2007 Jun 4. Am J Hum Genet. 2007. PMID: 17668373 Free PMC article.
Leber hereditary optic neuropathy presenting in a 75-year-old man.
Yu-Wai-Man P, Bateman DE, Hudson G, Griffiths PG, Chinnery PF. Yu-Wai-Man P, et al. Among authors: chinnery pf. J Neuroophthalmol. 2008 Jun;28(2):155. doi: 10.1097/WNO.0b013e3181772db4. J Neuroophthalmol. 2008. PMID: 18562849 No abstract available.
Inherited mitochondrial optic neuropathies.
Yu-Wai-Man P, Griffiths PG, Hudson G, Chinnery PF. Yu-Wai-Man P, et al. Among authors: chinnery pf. J Med Genet. 2009 Mar;46(3):145-58. doi: 10.1136/jmg.2007.054270. Epub 2008 Nov 10. J Med Genet. 2009. PMID: 19001017 Free PMC article. Review.
The clinical spectrum of mitochondrial genetic disorders.
Kirkman MA, Yu-Wai-Man P, Chinnery PF. Kirkman MA, et al. Among authors: chinnery pf. Clin Med (Lond). 2008 Dec;8(6):601-6. doi: 10.7861/clinmedicine.8-6-601. Clin Med (Lond). 2008. PMID: 19149282 Free PMC article. No abstract available.
667 results