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For: Nogueira C, Almeida LS, Nesti C, Pezzini I, Videira A, Vilarinho L, Santorelli FM. Syndromes associated with mitochondrial DNA depletion. Ital J Pediatr 2014;40:34. [PMID: 24708634 DOI: 10.1186/1824-7288-40-34] [Cited by in Crossref: 32] [Cited by in F6Publishing: 26] [Article Influence: 4.0] [Reference Citation Analysis]
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13 Olimpio C, Tiet MY, Horvath R. Primary mitochondrial myopathies in childhood. Neuromuscul Disord 2021;31:978-87. [PMID: 34736635 DOI: 10.1016/j.nmd.2021.08.005] [Reference Citation Analysis]
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16 Donkervoort S, Sabouny R, Yun P, Gauquelin L, Chao KR, Hu Y, Al Khatib I, Töpf A, Mohassel P, Cummings BB, Kaur R, Saade D, Moore SA, Waddell LB, Farrar MA, Goodrich JK, Uapinyoying P, Chan SHS, Javed A, Leach ME, Karachunski P, Dalton J, Medne L, Harper A, Thompson C, Thiffault I, Specht S, Lamont RE, Saunders C, Racher H, Bernier FP, Mowat D, Witting N, Vissing J, Hanson R, Coffman KA, Hainlen M, Parboosingh JS, Carnevale A, Yoon G, Schnur RE, Boycott KM, Mah JK, Straub V, Foley AR, Innes AM, Bönnemann CG, Shutt TE; Care4Rare Canada Consortium. MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement. Acta Neuropathol 2019;138:1013-31. [PMID: 31463572 DOI: 10.1007/s00401-019-02059-z] [Cited by in Crossref: 16] [Cited by in F6Publishing: 13] [Article Influence: 5.3] [Reference Citation Analysis]
17 Wang H, Han Y, Li S, Chen Y, Chen Y, Wang J, Zhang Y, Zhang Y, Wang J, Xia Y, Yuan J. Mitochondrial DNA Depletion Syndrome and Its Associated Cardiac Disease. Front Cardiovasc Med 2022;8:808115. [DOI: 10.3389/fcvm.2021.808115] [Reference Citation Analysis]
18 Jing R, Ma B, Qi T, Hu C, Liao C, Wen C, Shao Y, Pei C. Long Noncoding RNA OIP5-AS1 Promotes Cell Apoptosis and Cataract Formation by Blocking POLG Expression Under Oxidative Stress. Invest Ophthalmol Vis Sci 2020;61:3. [PMID: 33006594 DOI: 10.1167/iovs.61.12.3] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 6.0] [Reference Citation Analysis]
19 Kaarniranta K, Pawlowska E, Szczepanska J, Jablkowska A, Blasiak J. Role of Mitochondrial DNA Damage in ROS-Mediated Pathogenesis of Age-Related Macular Degeneration (AMD). Int J Mol Sci 2019;20:E2374. [PMID: 31091656 DOI: 10.3390/ijms20102374] [Cited by in Crossref: 53] [Cited by in F6Publishing: 53] [Article Influence: 17.7] [Reference Citation Analysis]
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23 Paiva Coelho M, Martins E, Vilarinho L. Diagnosis, management, and follow-up of mitochondrial disorders in childhood: a personalized medicine in the new era of genome sequence. Eur J Pediatr 2019;178:21-32. [PMID: 30535772 DOI: 10.1007/s00431-018-3292-x] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 1.5] [Reference Citation Analysis]
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25 Barøy T, Pedurupillay CRJ, Bliksrud YT, Rasmussen M, Holmgren A, Vigeland MD, Hughes T, Brink M, Rodenburg R, Nedregaard B, Strømme P, Frengen E, Misceo D. A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13. European Journal of Medical Genetics 2016;59:342-6. [DOI: 10.1016/j.ejmg.2016.05.005] [Cited by in Crossref: 8] [Cited by in F6Publishing: 10] [Article Influence: 1.3] [Reference Citation Analysis]
26 Li X, Li L, Sun Y, Lv F, Zhang G, Liu W, Zhang M, Jiang H, Liu S. Whole exome sequencing reveals two novel compound heterozygous mutations in TWNK as a cause of the hepatocerebral form of mitochondrial DNA depletion syndrome: a case report. BMC Med Genet 2019;20:146. [PMID: 31455269 DOI: 10.1186/s12881-019-0875-y] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
27 Spadafora D, Kozhukhar N, Alexeyev MF. Presequence-Independent Mitochondrial Import of DNA Ligase Facilitates Establishment of Cell Lines with Reduced mtDNA Copy Number. PLoS One 2016;11:e0152705. [PMID: 27031233 DOI: 10.1371/journal.pone.0152705] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 0.5] [Reference Citation Analysis]
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29 Montano V, Simoncini C, Calì CL, Legati A, Siciliano G, Mancuso M. CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions. Case Rep Neurol Med 2019;2019:5918632. [PMID: 30956829 DOI: 10.1155/2019/5918632] [Cited by in Crossref: 1] [Article Influence: 0.3] [Reference Citation Analysis]
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