BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

155 related articles for article (PubMed ID: 19736010)

  • 21. 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]  

  • 22. 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]  

  • 23. 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]  

  • 24. TK2 mutation presenting as indolent myopathy.
    Paradas C; Gutiérrez Ríos P; Rivas E; Carbonell P; Hirano M; DiMauro S
    Neurology; 2013 Jan; 80(5):504-6. PubMed ID: 23303857
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options.
    El-Hattab AW; Scaglia F
    Neurotherapeutics; 2013 Apr; 10(2):186-98. PubMed ID: 23385875
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients.
    Navarro-Sastre A; Tort F; Garcia-Villoria J; Pons MR; Nascimento A; Colomer J; Campistol J; Yoldi ME; López-Gallardo E; Montoya J; Unceta M; Martinez MJ; Briones P; Ribes A
    Mol Genet Metab; 2012 Nov; 107(3):409-15. PubMed ID: 22980518
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Synergistic Deoxynucleoside and Gene Therapies for Thymidine Kinase 2 Deficiency.
    Lopez-Gomez C; Sanchez-Quintero MJ; Lee EJ; Kleiner G; Tadesse S; Xie J; Akman HO; Gao G; Hirano M
    Ann Neurol; 2021 Oct; 90(4):640-652. PubMed ID: 34338329
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Primary mitochondrial myopathies in childhood.
    Olimpio C; Tiet MY; Horvath R
    Neuromuscul Disord; 2021 Oct; 31(10):978-987. PubMed ID: 34736635
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. Loss of thymidine kinase 2 alters neuronal bioenergetics and leads to neurodegeneration.
    Bartesaghi S; Betts-Henderson J; Cain K; Dinsdale D; Zhou X; Karlsson A; Salomoni P; Nicotera P
    Hum Mol Genet; 2010 May; 19(9):1669-77. PubMed ID: 20123860
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. 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]  

  • 33. Myopathic mtDNA Depletion Syndrome Due to Mutation in TK2 Gene.
    Martín-Hernández E; García-Silva MT; Quijada-Fraile P; Rodríguez-García ME; Rivera H; Hernández-Laín A; Coca-Robinot D; Fernández-Toral J; Arenas J; Martín MA; Martínez-Azorín F
    Pediatr Dev Pathol; 2017; 20(5):416-420. PubMed ID: 28812460
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Pathological Features in Paediatric Patients with TK2 Deficiency.
    Jou C; Nascimento A; Codina A; Montoya J; López-Gallardo E; Emperador S; Ruiz-Pesini E; Montero R; Natera-de Benito D; Ortez CI; Marquez J; Zelaya MV; Gutierrez-Mata A; Badosa C; Carrera-García L; Expósito-Escudero J; Roldán M; Camara Y; Marti R; Ferrer I; Jimenez-Mallebrera C; Artuch R
    Int J Mol Sci; 2022 Sep; 23(19):. PubMed ID: 36232299
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Mild myopathic phenotype in a patient with homozygous c.416C > T mutation in
    Papadimas GK; Vargiami E; Dragoumi P; Van Coster R; Smet J; Seneca S; Papadopoulos C; Kararizou E; Zafeiriou D
    Acta Myol; 2020 Jun; 39(2):94-97. PubMed ID: 32904881
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Altered gene transcription profiles in fibroblasts harboring either TK2 or DGUOK mutations indicate compensatory mechanisms.
    Villarroya J; de Bolós C; Meseguer A; Hirano M; Vilà MR
    Exp Cell Res; 2009 May; 315(8):1429-38. PubMed ID: 19265691
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. Late-onset mitochondrial myopathy with dystrophic changes due to a G7497A mutation in the mitochondrial tRNA(Ser(UCN)) gene.
    Müller T; Deschauer M; Neudecker S; Zierz S
    Acta Neuropathol; 2005 Oct; 110(4):426-30. PubMed ID: 16133542
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Mitochondrial myopathy simulating spinal muscular atrophy.
    Pons R; Andreetta F; Wang CH; Vu TH; Bonilla E; DiMauro S; De Vivo DC
    Pediatr Neurol; 1996 Sep; 15(2):153-8. PubMed ID: 8888051
    [TBL] [Abstract][Full Text] [Related]  

  • 40. POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions.
    Di Fonzo A; Bordoni A; Crimi M; Sara G; Del Bo R; Bresolin N; Comi GP
    Hum Mutat; 2003 Dec; 22(6):498-9. PubMed ID: 14635118
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.