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For: Tyynismaa H, Sun R, Ahola-Erkkilä S, Almusa H, Pöyhönen R, Korpela M, Honkaniemi J, Isohanni P, Paetau A, Wang L, Suomalainen A. Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. Hum Mol Genet 2012;21:66-75. [PMID: 21937588 DOI: 10.1093/hmg/ddr438] [Cited by in Crossref: 61] [Cited by in F6Publishing: 55] [Article Influence: 5.5] [Reference Citation Analysis]
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11 Lopez-Gomez C, Levy RJ, Sanchez-Quintero MJ, Juanola-Falgarona M, Barca E, Garcia-Diaz B, Tadesse S, Garone C, Hirano M. Deoxycytidine and Deoxythymidine Treatment for Thymidine Kinase 2 Deficiency. Ann Neurol 2017;81:641-52. [PMID: 28318037 DOI: 10.1002/ana.24922] [Cited by in Crossref: 63] [Cited by in F6Publishing: 46] [Article Influence: 12.6] [Reference Citation Analysis]
12 Milone M, Wong L. Diagnosis of mitochondrial myopathies. Molecular Genetics and Metabolism 2013;110:35-41. [DOI: 10.1016/j.ymgme.2013.07.007] [Cited by in Crossref: 57] [Cited by in F6Publishing: 37] [Article Influence: 6.3] [Reference Citation Analysis]
13 Paramasivam A, Meena AK, Pedaparthi L, Jyothi V, Uppin MS, Jabeen SA, Sundaram C, Thangaraj K. Novel mutation in C10orf2 associated with multiple mtDNA deletions, chronic progressive external ophthalmoplegia and premature aging. Mitochondrion 2016;26:81-5. [PMID: 26689116 DOI: 10.1016/j.mito.2015.12.006] [Cited by in Crossref: 11] [Cited by in F6Publishing: 8] [Article Influence: 1.6] [Reference Citation Analysis]
14 Gopan A, Sarma MS. Mitochondrial hepatopathy: Respiratory chain disorders- ‘breathing in and out of the liver’. World J Hepatol 2021; 13(11): 1707-1726 [PMID: 34904040 DOI: 10.4254/wjh.v13.i11.1707] [Reference Citation Analysis]
15 Finsterer J, Zarrouk-Mahjoub S. TK2-related Myopathic Mitochondrial Depletion Syndrome. Pediatr Dev Pathol 2018;21:507-8. [PMID: 29173062 DOI: 10.1177/1093526617743906] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.2] [Reference Citation Analysis]
16 Domínguez-González C, Hernández-Laín A, Rivas E, Hernández-Voth A, Sayas Catalán J, Fernández-Torrón R, Fuiza-Luces C, García García J, Morís G, Olivé M, Miralles F, Díaz-Manera J, Caballero C, Méndez-Ferrer B, Martí R, García Arumi E, Badosa MC, Esteban J, Jimenez-Mallebrera C, Encinar AB, Arenas J, Hirano M, Martin MÁ, Paradas C. Late-onset thymidine kinase 2 deficiency: a review of 18 cases. Orphanet J Rare Dis 2019;14:100. [PMID: 31060578 DOI: 10.1186/s13023-019-1071-z] [Cited by in Crossref: 12] [Cited by in F6Publishing: 12] [Article Influence: 4.0] [Reference Citation Analysis]
17 Nunnari J, Suomalainen A. Mitochondria: in sickness and in health. Cell 2012;148:1145-59. [PMID: 22424226 DOI: 10.1016/j.cell.2012.02.035] [Cited by in Crossref: 1455] [Cited by in F6Publishing: 1395] [Article Influence: 145.5] [Reference Citation Analysis]
18 Blakely EL, Butterworth A, Hadden RD, Bodi I, He L, McFarland R, Taylor RW. MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle. Neuromuscul Disord 2012;22:587-91. [PMID: 22508010 DOI: 10.1016/j.nmd.2012.03.006] [Cited by in Crossref: 43] [Cited by in F6Publishing: 35] [Article Influence: 4.3] [Reference Citation Analysis]
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21 Carelli V, Musumeci O, Caporali L, Zanna C, La Morgia C, Del Dotto V, Porcelli AM, Rugolo M, Valentino ML, Iommarini L, Maresca A, Barboni P, Carbonelli M, Trombetta C, Valente EM, Patergnani S, Giorgi C, Pinton P, Rizzo G, Tonon C, Lodi R, Avoni P, Liguori R, Baruzzi A, Toscano A, Zeviani M. Syndromic parkinsonism and dementia associated with OPA1 missense mutations. Ann Neurol 2015;78:21-38. [PMID: 25820230 DOI: 10.1002/ana.24410] [Cited by in Crossref: 101] [Cited by in F6Publishing: 94] [Article Influence: 14.4] [Reference Citation Analysis]
22 Sun R, Eriksson S, Wang L. Oxidative stress induced S-glutathionylation and proteolytic degradation of mitochondrial thymidine kinase 2. J Biol Chem 2012;287:24304-12. [PMID: 22661713 DOI: 10.1074/jbc.M112.381996] [Cited by in Crossref: 28] [Cited by in F6Publishing: 16] [Article Influence: 2.8] [Reference Citation Analysis]
23 Carroll CJ, Brilhante V, Suomalainen A. Next-generation sequencing for mitochondrial disorders. Br J Pharmacol 2014;171:1837-53. [PMID: 24138576 DOI: 10.1111/bph.12469] [Cited by in Crossref: 34] [Cited by in F6Publishing: 30] [Article Influence: 4.3] [Reference Citation Analysis]
24 Ahola S, Auranen M, Isohanni P, Niemisalo S, Urho N, Buzkova J, Velagapudi V, Lundbom N, Hakkarainen A, Muurinen T, Piirilä P, Pietiläinen KH, Suomalainen A. Modified Atkins diet induces subacute selective ragged-red-fiber lysis in mitochondrial myopathy patients. EMBO Mol Med 2016;8:1234-47. [PMID: 27647878 DOI: 10.15252/emmm.201606592] [Cited by in Crossref: 37] [Cited by in F6Publishing: 33] [Article Influence: 6.2] [Reference Citation Analysis]
25 Garone C, Taylor RW, Nascimento A, Poulton J, Fratter C, Domínguez-González C, Evans JC, Loos M, Isohanni P, Suomalainen A, Ram D, Hughes MI, McFarland R, Barca E, Lopez Gomez C, Jayawant S, Thomas ND, Manzur AY, Kleinsteuber K, Martin MA, Kerr T, Gorman GS, Sommerville EW, Chinnery PF, Hofer M, Karch C, Ralph J, Cámara Y, Madruga-Garrido M, Domínguez-Carral J, Ortez C, Emperador S, Montoya J, Chakrapani A, Kriger JF, Schoenaker R, Levin B, Thompson JLP, Long Y, Rahman S, Donati MA, DiMauro S, Hirano M. Retrospective natural history of thymidine kinase 2 deficiency. J Med Genet 2018;55:515-21. [PMID: 29602790 DOI: 10.1136/jmedgenet-2017-105012] [Cited by in Crossref: 42] [Cited by in F6Publishing: 37] [Article Influence: 10.5] [Reference Citation Analysis]
26 Balasubramaniam S, Duley JA, Christodoulou J. Inborn errors of pyrimidine metabolism: clinical update and therapy. J Inherit Metab Dis 2014;37:687-98. [PMID: 25030255 DOI: 10.1007/s10545-014-9742-3] [Cited by in Crossref: 23] [Cited by in F6Publishing: 20] [Article Influence: 2.9] [Reference Citation Analysis]
27 Garone C, Rubio JC, Calvo SE, Naini A, Tanji K, Dimauro S, Mootha VK, Hirano M. MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions. Arch Neurol 2012;69:1648-51. [PMID: 22964873 DOI: 10.1001/archneurol.2012.405] [Cited by in Crossref: 53] [Cited by in F6Publishing: 43] [Article Influence: 5.9] [Reference Citation Analysis]
28 Nascimento A, Ortez C, Jou C, O'Callaghan M, Ramos F, Garcia-Cazorla À. Neuromuscular Manifestations in Mitochondrial Diseases in Children. Semin Pediatr Neurol 2016;23:290-305. [PMID: 28284391 DOI: 10.1016/j.spen.2016.11.004] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 0.7] [Reference Citation Analysis]
29 Santacatterina F, Torresano L, Núñez-salgado A, Esparza-molto PB, Olive M, Gallardo E, García-arumi E, Blazquez A, González-quintana A, Martín MA, Cuezva JM. Different mitochondrial genetic defects exhibit the same protein signature of metabolism in skeletal muscle of PEO and MELAS patients: A role for oxidative stress. Free Radical Biology and Medicine 2018;126:235-48. [DOI: 10.1016/j.freeradbiomed.2018.08.020] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
30 Chaussenot A, Paquis-flucklinger V. An overview of neurological and neuromuscular signs in mitochondrial diseases. Revue Neurologique 2014;170:323-38. [DOI: 10.1016/j.neurol.2014.03.007] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 0.6] [Reference Citation Analysis]
31 Saneto RP. Genetics of Mitochondrial Disease. Adv Genet 2017;98:63-116. [PMID: 28942795 DOI: 10.1016/bs.adgen.2017.06.002] [Cited by in Crossref: 8] [Cited by in F6Publishing: 8] [Article Influence: 1.6] [Reference Citation Analysis]
32 Gorman GS, Chinnery PF, DiMauro S, Hirano M, Koga Y, McFarland R, Suomalainen A, Thorburn DR, Zeviani M, Turnbull DM. Mitochondrial diseases. Nat Rev Dis Primers 2016;2:16080. [PMID: 27775730 DOI: 10.1038/nrdp.2016.80] [Cited by in Crossref: 475] [Cited by in F6Publishing: 411] [Article Influence: 79.2] [Reference Citation Analysis]
33 Sun R, Eriksson S, Wang L. Down-regulation of mitochondrial thymidine kinase 2 and deoxyguanosine kinase by didanosine: Implication for mitochondrial toxicities of anti-HIV nucleoside analogs. Biochemical and Biophysical Research Communications 2014;450:1021-6. [DOI: 10.1016/j.bbrc.2014.06.098] [Cited by in Crossref: 13] [Cited by in F6Publishing: 12] [Article Influence: 1.6] [Reference Citation Analysis]
34 Horga A, Pitceathly RD, Blake JC, Woodward CE, Zapater P, Fratter C, Mudanohwo EE, Plant GT, Houlden H, Sweeney MG, Hanna MG, Reilly MM. Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia. Brain 2014;137:3200-12. [PMID: 25281868 DOI: 10.1093/brain/awu279] [Cited by in Crossref: 35] [Cited by in F6Publishing: 26] [Article Influence: 4.4] [Reference Citation Analysis]
35 Viscomi C, Zeviani M. MtDNA-maintenance defects: syndromes and genes. J Inherit Metab Dis 2017;40:587-99. [PMID: 28324239 DOI: 10.1007/s10545-017-0027-5] [Cited by in Crossref: 84] [Cited by in F6Publishing: 76] [Article Influence: 16.8] [Reference Citation Analysis]
36 Almannai M, El-Hattab AW, Scaglia F. Mitochondrial DNA replication: clinical syndromes. Essays Biochem 2018;62:297-308. [PMID: 29950321 DOI: 10.1042/EBC20170101] [Cited by in Crossref: 14] [Cited by in F6Publishing: 9] [Article Influence: 3.5] [Reference Citation Analysis]
37 Danielsson K, Mun LJ, Lordemann A, Mao J, Lin CH. Next-generation sequencing applied to rare diseases genomics. Expert Rev Mol Diagn. 2014;14:469-487. [PMID: 24702023 DOI: 10.1586/14737159.2014.904749] [Cited by in Crossref: 18] [Cited by in F6Publishing: 16] [Article Influence: 2.3] [Reference Citation Analysis]
38 Lopez-Gomez C, Hewan H, Sierra C, Akman HO, Sanchez-Quintero MJ, Juanola-Falgarona M, Tadesse S, Tanji K, Konofagou EE, Hirano M. Bioavailability and cytosolic kinases modulate response to deoxynucleoside therapy in TK2 deficiency. EBioMedicine 2019;46:356-67. [PMID: 31383553 DOI: 10.1016/j.ebiom.2019.07.037] [Cited by in Crossref: 10] [Cited by in F6Publishing: 9] [Article Influence: 3.3] [Reference Citation Analysis]
39 Mazurova S, Magner M, Kucerova-Vidrova V, Vondrackova A, Stranecky V, Pristoupilova A, Zamecnik J, Hansikova H, Zeman J, Tesarova M, Honzik T. Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature. Cardiol Young 2017;27:936-44. [PMID: 27839525 DOI: 10.1017/S1047951116001876] [Cited by in Crossref: 19] [Cited by in F6Publishing: 12] [Article Influence: 3.2] [Reference Citation Analysis]
40 Bulst S, Holinski-Feder E, Payne B, Abicht A, Krause S, Lochmüller H, Chinnery PF, Walter MC, Horvath R. In vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletion. Mol Genet Metab 2012;107:95-103. [PMID: 22608879 DOI: 10.1016/j.ymgme.2012.04.022] [Cited by in Crossref: 20] [Cited by in F6Publishing: 16] [Article Influence: 2.0] [Reference Citation Analysis]
41 de Fuenmayor-Fernández de la Hoz CP, Morís G, Jiménez-Mallebrera C, Badosa C, Hernández-Laín A, Blázquez Encinar A, Martín MÁ, Domínguez-González C. Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency. Mol Genet Metab Rep 2021;26:100701. [PMID: 33457207 DOI: 10.1016/j.ymgmr.2020.100701] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
42 Cámara Y, Carreño-Gago L, Martín MA, Melià MJ, Blázquez A, Delmiro A, Garrabou G, Morén C, Díaz-Manera J, Gallardo E, Bornstein B, López-Gallardo E, Hernández-Lain A, San Millán B, Cancho E, Rodríguez-Vico JS, Martí R, García-Arumí E. Severe TK2 enzyme activity deficiency in patients with mild forms of myopathy. Neurology 2015;84:2286-8. [PMID: 25948719 DOI: 10.1212/WNL.0000000000001644] [Cited by in Crossref: 20] [Cited by in F6Publishing: 8] [Article Influence: 2.9] [Reference Citation Analysis]
43 Saneto RP. Mitochondrial diseases: expanding the diagnosis in the era of genetic testing. J Transl Genet Genom 2020;4:384-428. [PMID: 33426505 DOI: 10.20517/jtgg.2020.40] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]
44 Blázquez-Bermejo C, Molina-Granada D, Vila-Julià F, Jiménez-Heis D, Zhou X, Torres-Torronteras J, Karlsson A, Martí R, Cámara Y. Age-related metabolic changes limit efficacy of deoxynucleoside-based therapy in thymidine kinase 2-deficient mice. EBioMedicine 2019;46:342-55. [PMID: 31351931 DOI: 10.1016/j.ebiom.2019.07.042] [Cited by in Crossref: 12] [Cited by in F6Publishing: 11] [Article Influence: 4.0] [Reference Citation Analysis]
45 Lehmann D, Tuppen HAL, Campbell GE, Alston CL, Lawless C, Rosa HS, Rocha MC, Reeve AK, Nicholls TJ, Deschauer M, Zierz S, Taylor RW, Turnbull DM, Vincent AE. Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level. Nucleic Acids Res 2019;47:7430-43. [PMID: 31147703 DOI: 10.1093/nar/gkz472] [Cited by in Crossref: 7] [Cited by in F6Publishing: 5] [Article Influence: 2.3] [Reference Citation Analysis]
46 Chanprasert S, Wang J, Weng S, Enns GM, Boué DR, Wong BL, Mendell JR, Perry DA, Sahenk Z, Craigen WJ, Alcala FJC, Pascual JM, Melancon S, Zhang VW, Scaglia F, Wong LC. Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene. Molecular Genetics and Metabolism 2013;110:153-61. [DOI: 10.1016/j.ymgme.2013.07.009] [Cited by in Crossref: 27] [Cited by in F6Publishing: 19] [Article Influence: 3.0] [Reference Citation Analysis]
47 Paradas C, Gutiérrez Ríos P, Rivas E, Carbonell P, Hirano M, DiMauro S. TK2 mutation presenting as indolent myopathy. Neurology 2013;80:504-6. [PMID: 23303857 DOI: 10.1212/WNL.0b013e31827f0ff7] [Cited by in Crossref: 22] [Cited by in F6Publishing: 7] [Article Influence: 2.4] [Reference Citation Analysis]
48 Wang J, Kim E, Dai H, Stefans V, Vogel H, Al Jasmi F, Schrier Vergano SA, Castro D, Bernes S, Bhambhani V, Long C, El-Hattab AW, Wong LJ. Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect. Mol Genet Metab 2018;124:124-30. [PMID: 29735374 DOI: 10.1016/j.ymgme.2018.04.012] [Cited by in Crossref: 16] [Cited by in F6Publishing: 13] [Article Influence: 4.0] [Reference Citation Analysis]
49 Garone C, Garcia-Diaz B, Emmanuele V, Lopez LC, Tadesse S, Akman HO, Tanji K, Quinzii CM, Hirano M. Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency. EMBO Mol Med 2014;6:1016-27. [PMID: 24968719 DOI: 10.15252/emmm.201404092] [Cited by in Crossref: 61] [Cited by in F6Publishing: 46] [Article Influence: 8.7] [Reference Citation Analysis]
50 El-Hattab AW, Scaglia F. Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options. Neurotherapeutics 2013;10:186-98. [PMID: 23385875 DOI: 10.1007/s13311-013-0177-6] [Cited by in Crossref: 163] [Cited by in F6Publishing: 142] [Article Influence: 18.1] [Reference Citation Analysis]
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52 Cámara Y, González-vioque E, Scarpelli M, Torres-torronteras J, Martí R. Feeding the deoxyribonucleoside salvage pathway to rescue mitochondrial DNA. Drug Discovery Today 2013;18:950-7. [DOI: 10.1016/j.drudis.2013.06.009] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 0.6] [Reference Citation Analysis]
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54 Hernandez-Voth A, Sayas Catalan J, Corral Blanco M, Castaño Mendez A, Martin MA, De Fuenmayor Fernandez de la Hoz C, Villena Garrido V, Dominguez-Gonzalez C. Deoxynucleoside therapy for respiratory involvement in adult patients with thymidine kinase 2-deficient myopathy. BMJ Open Respir Res 2020;7:e000774. [PMID: 33246973 DOI: 10.1136/bmjresp-2020-000774] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.5] [Reference Citation Analysis]
55 Wang L, Eriksson S. Mutational analyses of human thymidine kinase 2 reveal key residues in ATP-Mg2+ binding and catalysis. Nucleosides Nucleotides Nucleic Acids 2021;:1-9. [PMID: 34758700 DOI: 10.1080/15257770.2021.2001005] [Reference Citation Analysis]
56 Domínguez-González C, Madruga-Garrido M, Mavillard F, Garone C, Aguirre-Rodríguez FJ, Donati MA, Kleinsteuber K, Martí I, Martín-Hernández E, Morealejo-Aycinena JP, Munell F, Nascimento A, Kalko SG, Sardina MD, Álvarez Del Vayo C, Serrano O, Long Y, Tu Y, Levin B, Thompson JLP, Engelstad K, Uddin J, Torres-Torronteras J, Jimenez-Mallebrera C, Martí R, Paradas C, Hirano M. Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy. Ann Neurol 2019;86:293-303. [PMID: 31125140 DOI: 10.1002/ana.25506] [Cited by in Crossref: 34] [Cited by in F6Publishing: 31] [Article Influence: 11.3] [Reference Citation Analysis]
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