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 *

263 related articles for article (PubMed ID: 17452231)

  • 1. Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood.
    Sarzi E; Bourdon A; Chrétien D; Zarhrate M; Corcos J; Slama A; Cormier-Daire V; de Lonlay P; Munnich A; Rötig A
    J Pediatr; 2007 May; 150(5):531-4, 534.e1-6. PubMed ID: 17452231
    [TBL] [Abstract][Full Text] [Related]  

  • 2. POLG mutations and Alpers syndrome.
    Davidzon G; Mancuso M; Ferraris S; Quinzii C; Hirano M; Peters HL; Kirby D; Thorburn DR; DiMauro S
    Ann Neurol; 2005 Jun; 57(6):921-3. PubMed ID: 15929042
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations.
    Freisinger P; Fütterer N; Lankes E; Gempel K; Berger TM; Spalinger J; Hoerbe A; Schwantes C; Lindner M; Santer R; Burdelski M; Schaefer H; Setzer B; Walker UA; Horváth R
    Arch Neurol; 2006 Aug; 63(8):1129-34. PubMed ID: 16908739
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Quantitative evaluation of the mitochondrial DNA depletion syndrome.
    Dimmock D; Tang LY; Schmitt ES; Wong LJ
    Clin Chem; 2010 Jul; 56(7):1119-27. PubMed ID: 20448188
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes.
    Mancuso M; Filosto M; Tsujino S; Lamperti C; Shanske S; Coquet M; Desnuelle C; DiMauro S
    Arch Neurol; 2003 Oct; 60(10):1445-7. PubMed ID: 14568816
    [TBL] [Abstract][Full Text] [Related]  

  • 8. POLG1 mutations associated with progressive encephalopathy in childhood.
    Kollberg G; Moslemi AR; Darin N; Nennesmo I; Bjarnadottir I; Uvebrant P; Holme E; Melberg A; Tulinius M; Oldfors A
    J Neuropathol Exp Neurol; 2006 Aug; 65(8):758-68. PubMed ID: 16896309
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Depletion of the other genome-mitochondrial DNA depletion syndromes in humans.
    Elpeleg O; Mandel H; Saada A
    J Mol Med (Berl); 2002 Jul; 80(7):389-96. PubMed ID: 12110944
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Clonally expanded mitochondrial DNA mutations in epileptic individuals with mutated DNA polymerase gamma.
    Zsurka G; Baron M; Stewart JD; Kornblum C; Bös M; Sassen R; Taylor RW; Elger CE; Chinnery PF; Kunz WS
    J Neuropathol Exp Neurol; 2008 Sep; 67(9):857-66. PubMed ID: 18716558
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Two novel POLG mutations causing hepatic mitochondrial DNA depletion with recurrent hypoketotic hypoglycaemia and fatal liver dysfunction.
    Bortot B; Barbi E; Biffi S; Lunazzi G; Bussani R; Burlina A; Norbedo S; Ventura A; Carrozzi M; Severini GM
    Dig Liver Dis; 2009 Jul; 41(7):494-9. PubMed ID: 19195941
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement.
    Slama A; Giurgea I; Debrey D; Bridoux D; de Lonlay P; Levy P; Chretien D; Brivet M; Legrand A; Rustin P; Munnich A; Rötig A
    Mol Genet Metab; 2005 Dec; 86(4):462-5. PubMed ID: 16263314
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion.
    Bourdon A; Minai L; Serre V; Jais JP; Sarzi E; Aubert S; Chrétien D; de Lonlay P; Paquis-Flucklinger V; Arakawa H; Nakamura Y; Munnich A; Rötig A
    Nat Genet; 2007 Jun; 39(6):776-80. PubMed ID: 17486094
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency.
    Labarthe F; Dobbelaere D; Devisme L; De Muret A; Jardel C; Taanman JW; Gottrand F; Lombès A
    J Hepatol; 2005 Aug; 43(2):333-41. PubMed ID: 15964659
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus.
    Uusimaa J; Hinttala R; Rantala H; Päivärinta M; Herva R; Röyttä M; Soini H; Moilanen JS; Remes AM; Hassinen IE; Majamaa K
    Epilepsia; 2008 Jun; 49(6):1038-45. PubMed ID: 18294203
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: a case report.
    Montero R; Sánchez-Alcázar JA; Briones P; Navarro-Sastre A; Gallardo E; Bornstein B; Herrero-Martín D; Rivera H; Martin MA; Marti R; García-Cazorla A; Montoya J; Navas P; Artuch R
    Clin Biochem; 2009 May; 42(7-8):742-5. PubMed ID: 19094978
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular diagnosis of Alpers syndrome.
    Nguyen KV; Sharief FS; Chan SS; Copeland WC; Naviaux RK
    J Hepatol; 2006 Jul; 45(1):108-16. PubMed ID: 16545482
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Autosomal disorders of mitochondrial DNA maintenance.
    Van Goethem G
    Acta Neurol Belg; 2006 Jun; 106(2):66-72. PubMed ID: 16898256
    [TBL] [Abstract][Full Text] [Related]  

  • 20. POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.
    Naviaux RK; Nguyen KV
    Ann Neurol; 2004 May; 55(5):706-12. PubMed ID: 15122711
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.