568 related articles for article (PubMed ID: 23385875)
1. Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options.
El-Hattab AW; Scaglia F
Neurotherapeutics; 2013 Apr; 10(2):186-98. PubMed ID: 23385875
[TBL] [Abstract][Full Text] [Related]
2. Clinical and molecular features of mitochondrial DNA depletion syndromes.
Spinazzola A; Invernizzi F; Carrara F; Lamantea E; Donati A; Dirocco M; Giordano I; Meznaric-Petrusa M; Baruffini E; Ferrero I; Zeviani M
J Inherit Metab Dis; 2009 Apr; 32(2):143-58. PubMed ID: 19125351
[TBL] [Abstract][Full Text] [Related]
3. Defects in mitochondrial DNA replication and human disease.
Copeland WC
Crit Rev Biochem Mol Biol; 2012; 47(1):64-74. PubMed ID: 22176657
[TBL] [Abstract][Full Text] [Related]
4. Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients.
Navarro-Sastre A; Tort F; Garcia-Villoria J; Pons MR; Nascimento A; Colomer J; Campistol J; Yoldi ME; López-Gallardo E; Montoya J; Unceta M; Martinez MJ; Briones P; Ribes A
Mol Genet Metab; 2012 Nov; 107(3):409-15. PubMed ID: 22980518
[TBL] [Abstract][Full Text] [Related]
5. Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).
Poulton J; Hirano M; Spinazzola A; Arenas Hernandez M; Jardel C; Lombès A; Czermin B; Horvath R; Taanman JW; Rotig A; Zeviani M; Fratter C
Biochim Biophys Acta; 2009 Dec; 1792(12):1109-12. PubMed ID: 19748572
[TBL] [Abstract][Full Text] [Related]
6. Inherited mitochondrial diseases of DNA replication.
Copeland WC
Annu Rev Med; 2008; 59():131-46. PubMed ID: 17892433
[TBL] [Abstract][Full Text] [Related]
7. Quantitative evaluation of the mitochondrial DNA depletion syndrome.
Dimmock D; Tang LY; Schmitt ES; Wong LJ
Clin Chem; 2010 Jul; 56(7):1119-27. PubMed ID: 20448188
[TBL] [Abstract][Full Text] [Related]
8. Measurement of mitochondrial DNA copy number.
Venegas V; Halberg MC
Methods Mol Biol; 2012; 837():327-35. PubMed ID: 22215558
[TBL] [Abstract][Full Text] [Related]
9. [Mitochondrial disease and mitochondrial DNA depletion syndromes].
Huang CC; Hsu CH
Acta Neurol Taiwan; 2009 Dec; 18(4):287-95. PubMed ID: 20329599
[TBL] [Abstract][Full Text] [Related]
10. Autosomal disorders of mitochondrial DNA maintenance.
Van Goethem G
Acta Neurol Belg; 2006 Jun; 106(2):66-72. PubMed ID: 16898256
[TBL] [Abstract][Full Text] [Related]
11. Mitochondrial DNA maintenance defects.
El-Hattab AW; Craigen WJ; Scaglia F
Biochim Biophys Acta Mol Basis Dis; 2017 Jun; 1863(6):1539-1555. PubMed ID: 28215579
[TBL] [Abstract][Full Text] [Related]
12. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.
Hirano M; Nishigaki Y; Martí R
Neurologist; 2004 Jan; 10(1):8-17. PubMed ID: 14720311
[TBL] [Abstract][Full Text] [Related]
13. Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene.
Chanprasert S; Wang J; Weng SW; Enns GM; Boué DR; Wong BL; Mendell JR; Perry DA; Sahenk Z; Craigen WJ; Alcala FJ; Pascual JM; Melancon S; Zhang VW; Scaglia F; Wong LJ
Mol Genet Metab; 2013; 110(1-2):153-61. PubMed ID: 23932787
[TBL] [Abstract][Full Text] [Related]
14. A Yeast-Based Repurposing Approach for the Treatment of Mitochondrial DNA Depletion Syndromes Led to the Identification of Molecules Able to Modulate the dNTP Pool.
di Punzio G; Gilberti M; Baruffini E; Lodi T; Donnini C; Dallabona C
Int J Mol Sci; 2021 Nov; 22(22):. PubMed ID: 34830106
[TBL] [Abstract][Full Text] [Related]
15. Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion.
Stiles AR; Simon MT; Stover A; Eftekharian S; Khanlou N; Wang HL; Magaki S; Lee H; Partynski K; Dorrani N; Chang R; Martinez-Agosto JA; Abdenur JE
Mol Genet Metab; 2016 Sep; 119(1-2):91-9. PubMed ID: 27448789
[TBL] [Abstract][Full Text] [Related]
16. Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene.
Bornstein B; Area E; Flanigan KM; Ganesh J; Jayakar P; Swoboda KJ; Coku J; Naini A; Shanske S; Tanji K; Hirano M; DiMauro S
Neuromuscul Disord; 2008 Jun; 18(6):453-9. PubMed ID: 18504129
[TBL] [Abstract][Full Text] [Related]
17. Clinical and molecular characterization of three patients with Hepatocerebral form of mitochondrial DNA depletion syndrome: a case series.
Mahjoub G; Habibzadeh P; Dastsooz H; Mirzaei M; Kavosi A; Jamali L; Javanmardi H; Katibeh P; Faghihi MA; Dastgheib SA
BMC Med Genet; 2019 Oct; 20(1):167. PubMed ID: 31664948
[TBL] [Abstract][Full Text] [Related]
18. MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations.
El-Hattab AW; Li FY; Schmitt E; Zhang S; Craigen WJ; Wong LJ
Mol Genet Metab; 2010 Mar; 99(3):300-8. PubMed ID: 20074988
[TBL] [Abstract][Full Text] [Related]
19. The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders.
Cohen BH; Naviaux RK
Methods; 2010 Aug; 51(4):364-73. PubMed ID: 20558295
[TBL] [Abstract][Full Text] [Related]
20. Depletion of mtDNA: syndromes and genes.
Alberio S; Mineri R; Tiranti V; Zeviani M
Mitochondrion; 2007; 7(1-2):6-12. PubMed ID: 17280874
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]