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

Year Number of Results
1972 1
1974 1
1975 1
1977 1
1981 1
1982 2
1983 2
1984 1
1986 1
1987 1
1988 2
1989 4
1990 2
1991 1
1992 2
1993 3
1994 7
1995 8
1996 3
1997 5
1998 5
1999 3
2000 5
2001 5
2002 6
2003 4
2004 4
2005 9
2006 8
2007 7
2008 5
2009 7
2010 10
2011 9
2012 11
2013 9
2014 6
2015 6
2016 5
2017 12
2018 8
2019 8
2020 8
2021 10
2022 9
2023 8
2024 1

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213 results

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Page 1
Mitochondrial Retinopathy.
Birtel J, von Landenberg C, Gliem M, Gliem C, Reimann J, Kunz WS, Herrmann P, Betz C, Caswell R, Nesbitt V, Kornblum C, Charbel Issa P. Birtel J, et al. Ophthalmol Retina. 2022 Jan;6(1):65-79. doi: 10.1016/j.oret.2021.02.017. Epub 2021 Jul 10. Ophthalmol Retina. 2022. PMID: 34257060 Free article.
PARTICIPANTS: Twenty-three patients with retinopathy and mitochondrial disease, including chronic progressive external ophthalmoplegia (CPEO), maternally inherited diabetes and deafness (MIDD), mitochondrial encephalomyopathy, lactic acidosis, and stroke-like …
PARTICIPANTS: Twenty-three patients with retinopathy and mitochondrial disease, including chronic progressive external opht …
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC. Wong LJ, et al. Hum Mutat. 2008 Sep;29(9):E150-72. doi: 10.1002/humu.20824. Hum Mutat. 2008. PMID: 18546365 Free PMC article.
They are responsible for a heterogeneous group of at least 6 major phenotypes of neurodegenerative disease that include: 1) childhood Myocerebrohepatopathy Spectrum disorders (MCHS), 2) Alpers syndrome, 3) Ataxia Neuropathy Spectrum (ANS) disorders, 4) Myoclonus Epilepsy Myopathy …
They are responsible for a heterogeneous group of at least 6 major phenotypes of neurodegenerative disease that include: 1) childhood Myocer …
Strabismus in chronic progressive external ophthalmoplegia.
Kim JY, Yang HK, Kim N, Kim MJ, Cho SI, Seong MW, Park SS, Hwang JM. Kim JY, et al. Acta Ophthalmol. 2021 Mar;99(2):e274-e280. doi: 10.1111/aos.14558. Epub 2020 Nov 15. Acta Ophthalmol. 2021. PMID: 33191655 Free article.
PURPOSE: To elucidate the patterns of strabismus and ophthalmoplegia associated with chronic progressive external ophthalmoplegia (CPEO) confirmed by mitochondrial DNA (mtDNA) deletions in Asians. ...
PURPOSE: To elucidate the patterns of strabismus and ophthalmoplegia associated with chronic progressive external ophthalmo …
Mitochondrial myopathies.
Harding AE, Holt IJ. Harding AE, et al. Br Med Bull. 1989 Jul;45(3):760-71. doi: 10.1093/oxfordjournals.bmb.a072356. Br Med Bull. 1989. PMID: 2688827 Review.
Patients with muscle mtDNA deletions reported to date have all presented with progressive external ophthalmoplegia, including some with the Kearns-Sayre syndrome. ...
Patients with muscle mtDNA deletions reported to date have all presented with progressive external ophthalmoplegia, inc …
Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.
Tang S, Wang J, Lee NC, Milone M, Halberg MC, Schmitt ES, Craigen WJ, Zhang W, Wong LJ. Tang S, et al. J Med Genet. 2011 Oct;48(10):669-81. doi: 10.1136/jmedgenet-2011-100222. Epub 2011 Aug 31. J Med Genet. 2011. PMID: 21880868
By comparison, patients who developed symptoms in adulthood had a higher percentage of myopathy, sensory ataxia, and chronic progressive external ophthalmoplegia (CPEO)/ptosis. In conclusion, POLG mutations account for a broad clinical spectrum of mitochondri …
By comparison, patients who developed symptoms in adulthood had a higher percentage of myopathy, sensory ataxia, and chronic progressive …
Exophthalmos associated with chronic progressive external ophthalmoplegia.
Takeda Y, Suzuki H, Hosono K, Hikoya A, Komori M, Inagaki R, Haseoka T, Arai S, Takagi Y, Hotta Y, Sato M. Takeda Y, et al. Jpn J Ophthalmol. 2022 May;66(3):314-319. doi: 10.1007/s10384-022-00920-5. Epub 2022 Apr 19. Jpn J Ophthalmol. 2022. PMID: 35438395
PURPOSE: Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial disease characterized by slowly progressive ptosis and limitations in ocular motility. ...
PURPOSE: Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial disease characterized by slowly progres …
MtDNA-maintenance defects: syndromes and genes.
Viscomi C, Zeviani M. Viscomi C, et al. J Inherit Metab Dis. 2017 Jul;40(4):587-599. doi: 10.1007/s10545-017-0027-5. Epub 2017 Mar 21. J Inherit Metab Dis. 2017. PMID: 28324239 Free PMC article. Review.
A large group of mitochondrial disorders, ranging from early-onset pediatric encephalopathic syndromes to late-onset myopathy with chronic progressive external ophthalmoplegia (CPEOs), are inherited as Mendelian disorders characterized by disturbed mitochondr …
A large group of mitochondrial disorders, ranging from early-onset pediatric encephalopathic syndromes to late-onset myopathy with chronic …
Chronic progressive external ophthalmoplegia.
Lee AG, Brazis PW. Lee AG, et al. Curr Neurol Neurosci Rep. 2002 Sep;2(5):413-7. doi: 10.1007/s11910-002-0067-5. Curr Neurol Neurosci Rep. 2002. PMID: 12169221 Review.
Chronic progressive external ophthalmoplegia (CPEO) is a descriptive term for a heterogenous group of disorders characterized by chronic, progressive, bilateral, and usually symmetric ocular motility deficit and ptosis. ...
Chronic progressive external ophthalmoplegia (CPEO) is a descriptive term for a heterogenous group of disorders charact …
Mitochondrial encephalomyopathies.
DiMauro S, Moraes CT. DiMauro S, et al. Arch Neurol. 1993 Nov;50(11):1197-208. doi: 10.1001/archneur.1993.00540110075008. Arch Neurol. 1993. PMID: 8215979 Review.
The third group includes two conditions, an autosomal dominant form of progressive external ophthalmoplegia associated with multiple mtDNA deletions, and a quantitative defect of mtDNA (mtDNA depletion) causing severe infantile myopathy or hepatopathy....
The third group includes two conditions, an autosomal dominant form of progressive external ophthalmoplegia associated …
Ophthalmoplegia in Mitochondrial Disease.
Lee SJ, Na JH, Han J, Lee YM. Lee SJ, et al. Yonsei Med J. 2018 Dec;59(10):1190-1196. doi: 10.3349/ymj.2018.59.10.1190. Yonsei Med J. 2018. PMID: 30450853 Free PMC article.
The 16 patients who were finally included in the study were divided into three groups according to disease type: Kearns-Sayre syndrome (KSS), KSS-like, and chronic progressive external ophthalmoplegia (CPEO). RESULTS: The prevalences of clinical findings were …
The 16 patients who were finally included in the study were divided into three groups according to disease type: Kearns-Sayre syndrome (KSS) …
213 results