BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

163 related articles for article (PubMed ID: 20421844)

  • 1. Hearing loss in a patient with the myopathic form of mitochondrial DNA depletion syndrome and a novel mutation in the TK2 gene.
    Martí R; Nascimento A; Colomer J; Lara MC; López-Gallardo E; Ruiz-Pesini E; Montoya J; Andreu AL; Briones P; Pineda M
    Pediatr Res; 2010 Aug; 68(2):151-4. PubMed ID: 20421844
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome.
    Götz A; Isohanni P; Pihko H; Paetau A; Herva R; Saarenpää-Heikkilä O; Valanne L; Marjavaara S; Suomalainen A
    Brain; 2008 Nov; 131(Pt 11):2841-50. PubMed ID: 18819985
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene.
    Mancuso M; Filosto M; Bonilla E; Hirano M; Shanske S; Vu TH; DiMauro S
    Arch Neurol; 2003 Jul; 60(7):1007-9. PubMed ID: 12873860
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A defect in the thymidine kinase 2 gene causing isolated mitochondrial myopathy without mtDNA depletion.
    Leshinsky-Silver E; Michelson M; Cohen S; Ginsberg M; Sadeh M; Barash V; Lerman-Sagie T; Lev D
    Eur J Paediatr Neurol; 2008 Jul; 12(4):309-13. PubMed ID: 17951082
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Novel mutations in the thymidine kinase 2 gene (TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA depletion.
    Tulinius M; Moslemi AR; Darin N; Holme E; Oldfors A
    Neuromuscul Disord; 2005 Jun; 15(6):412-5. PubMed ID: 15907288
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mitochondrial DNA depletion in single fibers in a patient with novel TK2 mutations.
    Roos S; Lindgren U; Ehrstedt C; Moslemi AR; Oldfors A
    Neuromuscul Disord; 2014 Aug; 24(8):713-20. PubMed ID: 24953930
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.
    Tyynismaa H; Sun R; Ahola-Erkkilä S; Almusa H; Pöyhönen R; Korpela M; Honkaniemi J; Isohanni P; Paetau A; Wang L; Suomalainen A
    Hum Mol Genet; 2012 Jan; 21(1):66-75. PubMed ID: 21937588
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy.
    Saada A; Shaag A; Mandel H; Nevo Y; Eriksson S; Elpeleg O
    Nat Genet; 2001 Nov; 29(3):342-4. PubMed ID: 11687801
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Application of oligonucleotide array CGH to the simultaneous detection of a deletion in the nuclear TK2 gene and mtDNA depletion.
    Zhang S; Li FY; Bass HN; Pursley A; Schmitt ES; Brown BL; Brundage EK; Mardach R; Wong LJ
    Mol Genet Metab; 2010 Jan; 99(1):53-7. PubMed ID: 19815440
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletion.
    Lesko N; Naess K; Wibom R; Solaroli N; Nennesmo I; von Döbeln U; Karlsson A; Larsson NG
    Neuromuscul Disord; 2010 Mar; 20(3):198-203. PubMed ID: 20083405
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Adult cases of mitochondrial DNA depletion due to TK2 defect: an expanding spectrum.
    Béhin A; Jardel C; Claeys KG; Fagart J; Louha M; Romero NB; Laforêt P; Eymard B; Lombès A
    Neurology; 2012 Feb; 78(9):644-8. PubMed ID: 22345218
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Reversion of mtDNA depletion in a patient with TK2 deficiency.
    Vilà MR; Segovia-Silvestre T; Gámez J; Marina A; Naini AB; Meseguer A; Lombès A; Bonilla E; DiMauro S; Hirano M; Andreu AL
    Neurology; 2003 Apr; 60(7):1203-5. PubMed ID: 12682338
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Deoxyribonucleoside kinases in mitochondrial DNA depletion.
    Saada-Reisch A
    Nucleosides Nucleotides Nucleic Acids; 2004 Oct; 23(8-9):1205-15. PubMed ID: 15571232
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes.
    Wang L; Limongelli A; Vila MR; Carrara F; Zeviani M; Eriksson S
    Mol Genet Metab; 2005 Jan; 84(1):75-82. PubMed ID: 15639197
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Progressive myofiber loss with extensive fibro-fatty replacement in a child with mitochondrial DNA depletion syndrome and novel thymidine kinase 2 gene mutations.
    Collins J; Bove KE; Dimmock D; Morehart P; Wong LJ; Wong B
    Neuromuscul Disord; 2009 Nov; 19(11):784-7. PubMed ID: 19736010
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutation analysis in 16 patients with mtDNA depletion.
    Carrozzo R; Bornstein B; Lucioli S; Campos Y; de la Pena P; Petit N; Dionisi-Vici C; Vilarinho L; Rizza T; Bertini E; Garesse R; Santorelli FM; Arenas J
    Hum Mutat; 2003 Apr; 21(4):453-4. PubMed ID: 12655576
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mitochondrial DNA copy number threshold in mtDNA depletion myopathy.
    Durham SE; Bonilla E; Samuels DC; DiMauro S; Chinnery PF
    Neurology; 2005 Aug; 65(3):453-5. PubMed ID: 16087914
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene.
    Oskoui M; Davidzon G; Pascual J; Erazo R; Gurgel-Giannetti J; Krishna S; Bonilla E; De Vivo DC; Shanske S; DiMauro S
    Arch Neurol; 2006 Aug; 63(8):1122-6. PubMed ID: 16908738
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Late-onset thymidine kinase 2 deficiency: a review of 18 cases.
    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
    Orphanet J Rare Dis; 2019 May; 14(1):100. PubMed ID: 31060578
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.