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

Year Number of Results
1989 1
1990 1
1991 2
1992 2
1993 3
1994 2
1995 1
1996 1
1997 3
1998 3
2000 4
2002 5
2003 2
2005 1
2006 1
2007 1
2009 2
2010 1
2012 3
2014 2
2015 1
2017 1
2019 2
2023 2
2024 0

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46 results

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Page 1
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 POLG gene encodes the mitochondrial DNA polymerase that is responsible for replication of the mitochondrial genome. Mutations in POLG can cause early childhood mitochondrial DNA (mtDNA) depletion syndromes or later-onset syn
The POLG gene encodes the mitochondrial DNA polymerase that is responsible for replication of the mitochondrial
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.
Advances in molecular genetics have revealed numerous pathogenic causes of PEO, originally heralded in 1988 by the detection of single large-scale deletions of mitochondrial DNA (mtDNA) in skeletal muscle of people with PEO and Kearns-Sayre syndrome. . …
Advances in molecular genetics have revealed numerous pathogenic causes of PEO, originally heralded in 1988 by the detection of single large …
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 …
A large group of mitochondrial disorders, ranging from early-onset pediatric encephalopathic syndromes to late-onset myopat
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.
The increased incidence of maternal, as opposed to paternal, transmission in familial mitochondrial myopathy has led to the suggestion that these disorders may be caused by mutations of mitochondrial (mt) DNA. ...Analysis of muscle mtDNA shows two popu …
The increased incidence of maternal, as opposed to paternal, transmission in familial mitochondrial myopathy has led to the su …
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.
Mitochondrial diseases are uniquely interesting from a genetic point of view because mitochondria contain their own DNA (mtDNA) and are capable of synthesizing a small but vital set of proteins, all of which are components of respiratory chain complexes. ...T
Mitochondrial diseases are uniquely interesting from a genetic point of view because mitochondria contain their own DNA
[Mitochondrial DNA deletion syndrome: a case report and literature review].
Zhu YH, Zhang QJ, Wang QJ. Zhu YH, et al. Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2019 Sep;33(9):808-813. doi: 10.13201/j.issn.1001-1781.2019.09.004. Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2019. PMID: 31446694 Review. Chinese.
Summary Mitochondrial DNA(mtDNA) deletion is a rare occurrence that results in defects to oxidative phosphorylation. The common clinical presentations of mtDNA deletion vary but include mitochondrial myopathy, Pearson syndrome, Kea …
Summary Mitochondrial DNA(mtDNA) deletion is a rare occurrence that results in defects to oxidative phosphorylation. Th …
Mitochondrial DNA disorders.
Naviaux RK. Naviaux RK. Eur J Pediatr. 2000 Dec;159 Suppl 3:S219-26. doi: 10.1007/pl00014407. Eur J Pediatr. 2000. PMID: 11216904 Review.
Over 100 pathogenic point mutations and 200 deletions, insertions, and rearrangements have been identified since the first mitochondrial DNA mutations were described in 1988. ...The clinical phenotypes of mitochondrial tRNA disease span the spec …
Over 100 pathogenic point mutations and 200 deletions, insertions, and rearrangements have been identified since the first mitocho
Metabolic myopathies.
Tein I. Tein I. Semin Pediatr Neurol. 1996 Jun;3(2):59-98. doi: 10.1016/s1071-9091(96)80038-6. Semin Pediatr Neurol. 1996. PMID: 8795843 Review.
Disorders of glycogen, lipid or mitochondrial metabolism may cause two main clinical syndromes, namely (1) progressive weakness (eg, acid maltase, debrancher enzyme, and brancher enzyme deficiencies among the glycogenoses; long- and very-long-chain acyl-CoA d …
Disorders of glycogen, lipid or mitochondrial metabolism may cause two main clinical syndromes, namely (1) progressive
Macrocytosis in Mitochondrial DNA Deletion Syndromes.
Almarzooqi F, Vallance H, Mezei M, Lehman A, Horvath G, Rakic B, Zypchen L, Mattman A. Almarzooqi F, et al. Acta Haematol. 2023;146(3):220-225. doi: 10.1159/000529311. Epub 2023 Feb 10. Acta Haematol. 2023. PMID: 36774923 Review.
Large single mitochondrial DNA (mtDNA) deletion syndrome is a rare inborn error of metabolism with variable heteroplasmy levels and clinical phenotype among affected individuals. Chronic progressive external ophthalmoplegia (CPEO) is the most co …
Large single mitochondrial DNA (mtDNA) deletion syndrome is a rare inborn error of metabolism with variable hete …
Defects in mitochondrial DNA replication and human disease.
Copeland WC. Copeland WC. Crit Rev Biochem Mol Biol. 2012 Jan-Feb;47(1):64-74. doi: 10.3109/10409238.2011.632763. Crit Rev Biochem Mol Biol. 2012. PMID: 22176657 Free PMC article. Review.
Mitochondrial DNA (mtDNA) is replicated by the DNA polymerase g in concert with accessory proteins such as the mtDNA helicase, single stranded DNA binding protein, topoisomerase, and initiating factors. ...These genetic diseases include mtDNA de
Mitochondrial DNA (mtDNA) is replicated by the DNA polymerase g in concert with accessory proteins such as the mtDNA he
46 results