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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1969 1
1976 1
1977 1
1978 1
1982 1
1983 1
1985 1
1988 4
1989 5
1990 6
1991 8
1992 8
1993 11
1994 6
1995 7
1996 7
1997 10
1998 8
1999 7
2000 5
2001 12
2002 16
2003 7
2004 4
2005 10
2006 8
2007 5
2008 9
2009 4
2010 10
2011 4
2012 9
2013 7
2014 8
2015 9
2016 11
2017 8
2018 10
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2020 9
2021 3
2022 4
2023 6
2024 2

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264 results

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Page 1
Progressive external ophthalmoplegia.
Hirano M, Pitceathly RDS. Hirano M, et al. Handb Clin Neurol. 2023;194:9-21. doi: 10.1016/B978-0-12-821751-1.00018-X. Handb Clin Neurol. 2023. PMID: 36813323 Free PMC article. Review.
Progressive external ophthalmoplegia (PEO), characterized by ptosis and impaired eye movements, is a clinical syndrome with an expanding number of etiologically distinct subtypes. ...Since then, multiple point variants of mtDNA and nuclear genes have been ide …
Progressive external ophthalmoplegia (PEO), characterized by ptosis and impaired eye movements, is a clinical syndrome …
POLG-related disorders and their neurological manifestations.
Rahman S, Copeland WC. Rahman S, et al. Nat Rev Neurol. 2019 Jan;15(1):40-52. doi: 10.1038/s41582-018-0101-0. Nat Rev Neurol. 2019. PMID: 30451971 Free PMC article. Review.
The six leading disorders caused by POLG mutations are Alpers-Huttenlocher syndrome, which is one of the most severe phenotypes; childhood myocerebrohepatopathy spectrum, which presents within the first 3 years of life; myoclonic epilepsy myopathy sensory ataxia; ataxia neuropath …
The six leading disorders caused by POLG mutations are Alpers-Huttenlocher syndrome, which is one of the most severe phenotypes; childhood m …
Mitochondrial Disorder: Kearns-Sayre Syndrome.
Tsang SH, Aycinena ARP, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:161-162. doi: 10.1007/978-3-319-95046-4_30. Adv Exp Med Biol. 2018. PMID: 30578503 Review.
The fundus shows pigmentary retinopathy, with a salt-and-pepper appearance (Fig. 30.1), but vision remains good in most patients. Systemic involvement includes chronic progressive external ophthalmoplegia (CPEO), with ptosis being the most common compl …
The fundus shows pigmentary retinopathy, with a salt-and-pepper appearance (Fig. 30.1), but vision remains good in most patients. Systemic i …
Progressive External Ophthalmoplegia.
McClelland C, Manousakis G, Lee MS. McClelland C, et al. Curr Neurol Neurosci Rep. 2016 Jun;16(6):53. doi: 10.1007/s11910-016-0652-7. Curr Neurol Neurosci Rep. 2016. PMID: 27072953 Review.
Progressive external ophthalmoplegia (PEO), marked by progressive bilateral ptosis and diffuse reduction in ocular motility, represents a finding of mitochondrial myopathy rather than a true diagnosis. ...
Progressive external ophthalmoplegia (PEO), marked by progressive bilateral ptosis and diffuse reduction in ocul …
[Mitochondrial diseases].
Radelfahr F, Klopstock T. Radelfahr F, et al. Nervenarzt. 2019 Feb;90(2):121-130. doi: 10.1007/s00115-018-0666-2. Nervenarzt. 2019. PMID: 30643957 Review. German.
The most common MDs are Leber's hereditary optic neuropathy (LHON), chronic progressive external ophthalmoplegia (CPEO) and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS). ...
The most common MDs are Leber's hereditary optic neuropathy (LHON), chronic progressive external ophthalmoplegia …
Expert consensus document: Mitochondrial function as a therapeutic target in heart failure.
Brown DA, Perry JB, Allen ME, Sabbah HN, Stauffer BL, Shaikh SR, Cleland JG, Colucci WS, Butler J, Voors AA, Anker SD, Pitt B, Pieske B, Filippatos G, Greene SJ, Gheorghiade M. Brown DA, et al. Nat Rev Cardiol. 2017 Apr;14(4):238-250. doi: 10.1038/nrcardio.2016.203. Epub 2016 Dec 22. Nat Rev Cardiol. 2017. PMID: 28004807 Free PMC article. Review.
Neuro-ophthalmic genetics.
Kerrison JB, Maumenee IH. Kerrison JB, et al. Curr Opin Ophthalmol. 1997 Dec;8(6):35-40. doi: 10.1097/00055735-199712000-00006. Curr Opin Ophthalmol. 1997. PMID: 10176101 Review.
These include disorders of the optic nerve, such as Leber's hereditary optic neuropathy and Kjer-type optic atrophy, and disorders of ocular motility, such as congenital nystagmus, autosomal dominant progressive external ophthalmoplegia, and oculopharyngeal m …
These include disorders of the optic nerve, such as Leber's hereditary optic neuropathy and Kjer-type optic atrophy, and disorders of ocular …
Mitochondria and the eye-manifestations of mitochondrial diseases and their management.
Chen BS, Harvey JP, Gilhooley MJ, Jurkute N, Yu-Wai-Man P. Chen BS, et al. Eye (Lond). 2023 Aug;37(12):2416-2425. doi: 10.1038/s41433-023-02523-x. Epub 2023 Apr 25. Eye (Lond). 2023. PMID: 37185957 Free PMC article. Review.
Due to their predilection for metabolically active tissue, mitochondrial diseases frequently involve the eye, resulting in a range of ophthalmic manifestations including progressive external ophthalmoplegia, retinopathy and optic neuropathy, as well as defici …
Due to their predilection for metabolically active tissue, mitochondrial diseases frequently involve the eye, resulting in a range of ophtha …
264 results