BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

154 related articles for article (PubMed ID: 18508266)

  • 1. Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy.
    Blakely E; He L; Gardner JL; Hudson G; Walter J; Hughes I; Turnbull DM; Taylor RW
    Neuromuscul Disord; 2008 Jul; 18(7):557-60. PubMed ID: 18508266
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. Selective muscle fiber loss and molecular compensation in mitochondrial myopathy due to TK2 deficiency.
    Vilà MR; Villarroya J; García-Arumí E; Castellote A; Meseguer A; Hirano M; Roig M
    J Neurol Sci; 2008 Apr; 267(1-2):137-41. PubMed ID: 18021809
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Kinetic properties of mutant human thymidine kinase 2 suggest a mechanism for mitochondrial DNA depletion myopathy.
    Wang L; Saada A; Eriksson S
    J Biol Chem; 2003 Feb; 278(9):6963-8. PubMed ID: 12493767
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Clinical characteristics and muscle pathology in myopathic mitochondrial DNA depletion.
    Nevo Y; Soffer D; Kutai M; Zelnik N; Saada A; Jossiphov J; Messer G; Shaag A; Shahar E; Harel S; Elpeleg O
    J Child Neurol; 2002 Jul; 17(7):499-504. PubMed ID: 12269728
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 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. Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies.
    Kalko SG; Paco S; Jou C; Rodríguez MA; Meznaric M; Rogac M; Jekovec-Vrhovsek M; Sciacco M; Moggio M; Fagiolari G; De Paepe B; De Meirleir L; Ferrer I; Roig-Quilis M; Munell F; Montoya J; López-Gallardo E; Ruiz-Pesini E; Artuch R; Montero R; Torner F; Nascimento A; Ortez C; Colomer J; Jimenez-Mallebrera C
    BMC Genomics; 2014 Feb; 15():91. PubMed ID: 24484525
    [TBL] [Abstract][Full Text] [Related]  

  • 20. New mutations in TK2 gene associated with mitochondrial DNA depletion.
    Galbiati S; Bordoni A; Papadimitriou D; Toscano A; Rodolico C; Katsarou E; Sciacco M; Garufi A; Prelle A; Aguennouz M'; Bonsignore M; Crimi M; Martinuzzi A; Bresolin N; Papadimitriou A; Comi GP
    Pediatr Neurol; 2006 Mar; 34(3):177-85. PubMed ID: 16504786
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.