These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

403 related articles for article (PubMed ID: 24953930)

  • 1. 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]  

  • 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. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 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. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. Mitochondrial myopathy with exercise intolerance and retinal dystrophy in a sporadic patient with a G583A mutation in the mt tRNA(phe) gene.
    Darin N; Kollberg G; Moslemi AR; Tulinius M; Holme E; Grönlund MA; Andersson S; Oldfors A
    Neuromuscul Disord; 2006 Aug; 16(8):504-6. PubMed ID: 16806928
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency.
    Lalani SR; Vladutiu GD; Plunkett K; Lotze TE; Adesina AM; Scaglia F
    Arch Neurol; 2005 Feb; 62(2):317-20. PubMed ID: 15710863
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Apoptosis in mitochondrial myopathies is linked to mitochondrial proliferation.
    Auré K; Fayet G; Leroy JP; Lacène E; Romero NB; Lombès A
    Brain; 2006 May; 129(Pt 5):1249-59. PubMed ID: 16537564
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Low levels of mitochondrial transcription factor A in mitochondrial DNA depletion.
    Larsson NG; Oldfors A; Holme E; Clayton DA
    Biochem Biophys Res Commun; 1994 May; 200(3):1374-81. PubMed ID: 8185589
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. Failed upregulation of TFAM protein and mitochondrial DNA in oxidatively deficient fibers of chronic obstructive pulmonary disease locomotor muscle.
    Konokhova Y; Spendiff S; Jagoe RT; Aare S; Kapchinsky S; MacMillan NJ; Rozakis P; Picard M; Aubertin-Leheudre M; Pion CH; Bourbeau J; Hepple RT; Taivassalo T
    Skelet Muscle; 2016; 6():10. PubMed ID: 26893822
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 21.