Zobrazeno 1 - 10
of 78
pro vyhledávání: '"Philip G, Griffiths"'
Publikováno v:
Journal of Optometry, Vol 10, Iss 3, Pp 199-200 (2017)
Externí odkaz:
https://doaj.org/article/e34f7fe6cd3f49c3a0076efccabdf29c
Publikováno v:
PLoS ONE, Vol 8, Iss 5, p e63446 (2013)
Leber Hereditary Optic Neuropathy (LHON) is an important cause of inherited mitochondrial blindness among young adults. The majority of patients carry one of three mitochondrial DNA (mtDNA) point mutations: m.3460G>A, m.11778G>A and m.14484T>C, all o
Externí odkaz:
https://doaj.org/article/3f4ad905d9974aec8542e17a78b892d2
Autor:
Cynthia Yu-Wai-Man, Fiona E Smith, Michael J Firbank, Grant Guthrie, Stuart Guthrie, Grainne S Gorman, Robert W Taylor, Douglass M Turnbull, Philip G Griffiths, Andrew M Blamire, Patrick F Chinnery, Patrick Yu-Wai-Man
Publikováno v:
PLoS ONE, Vol 8, Iss 9, p e75048 (2013)
BACKGROUND:Chronic progressive external ophthalmoplegia (CPEO) is a classical mitochondrial ocular disorder characterised by bilateral progressive ptosis and ophthalmoplegia. These ocular features can develop either in isolation or in association wit
Externí odkaz:
https://doaj.org/article/c3ae48de056b4d14bd3a5a7422450772
Publikováno v:
Ophthalmic and Physiological Optics. 36:519-544
Purpose There are many anecdotal claims and research reports that coloured lenses and overlays improve reading performance. Here we present the results of a systematic review of this literature and examine the quality of the evidence. Methods We syst
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e47839697639c5889c08b5c5b5c8cd33
https://doi.org/10.1111/opo.12316
https://doi.org/10.1111/opo.12316
Publikováno v:
Orbit. 32:12-15
To retrospectively analyse surgical outcome and complications in patients with ocular myopathy undergoing ptosis correction and to introduce preoperative prophylactic lower lid elevation in this group.The medical records of all ocular myopathy patien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dab9654416084655d3b1a087313d50cf
https://doi.org/10.3109/01676830.2012.736599
https://doi.org/10.3109/01676830.2012.736599
Publikováno v:
Ophthalmicphysiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists). 37(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00f8d6831cce62bb4f362d1a541fccda
https://pubmed.ncbi.nlm.nih.gov/27905122
https://pubmed.ncbi.nlm.nih.gov/27905122
Autor:
Roger G. Whittaker, Patrick F. Chinnery, Karen M. Fisher, Mark R. Baker, Patrick Yu-Wai-Man, Philip G. Griffiths
Publikováno v:
Neurology. 77:1309-1312
Mutations affecting the nuclear gene encoding the mitochondrial OPA1 protein are the commonest causes of autosomal dominant optic atrophy (DOA). More recently OPA1 mutations have been shown to cause a disorder of mitochondrial DNA (mtDNA) maintenance
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96e61ccc4d12dfb7f3547669fcbf14ee
https://doi.org/10.1212/wnl.0b013e318230a15a
https://doi.org/10.1212/wnl.0b013e318230a15a
Publikováno v:
Eye. 25:596-602
The majority of patients with autosomal dominant optic atrophy (DOA) harbour pathogenic OPA1mutations. Although DOA is characterised by the preferential loss of retinal ganglion cells (RGCs), about 20% of patients with OPA1mutations will develop a mo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4843c4e123b8f379a98461355743be4
https://doi.org/10.1038/eye.2011.2
https://doi.org/10.1038/eye.2011.2
Publikováno v:
Progress in Retinal and Eye Research
Leber hereditary optic neuropathy (LHON) and autosomal-dominant optic atrophy (DOA) are the two most common inherited optic neuropathies in the general population. Both disorders share striking pathological similarities, marked by the selective loss
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c203944ac22cee9314b1ac095ae3439c
https://doi.org/10.1016/j.preteyeres.2010.11.002
https://doi.org/10.1016/j.preteyeres.2010.11.002
Autor:
Patrick F. Chinnery, Amy K. Reeve, Patrick Yu-Wai-Man, David C. Samuels, Laurence A. Bindoff, Kamil S. Sitarz, Philip G. Griffiths, Rita Horvath
Publikováno v:
Human Molecular Genetics
Pathogenic OPA1 mutations cause autosomal dominant optic atrophy (DOA), a condition characterized by the preferential loss of retinal ganglion cells and progressive optic nerve degeneration. Approximately 20% of affected patients will also develop mo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f7d3883998825cb6e3c4c6cc5dd4f9e
https://doi.org/10.1093/hmg/ddq209
https://doi.org/10.1093/hmg/ddq209