BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

704 related articles for article (PubMed ID: 14635118)

  • 1. 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]  

  • 2. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.
    Van Goethem G; Dermaut B; Löfgren A; Martin JJ; Van Broeckhoven C
    Nat Genet; 2001 Jul; 28(3):211-2. PubMed ID: 11431686
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.
    Lamantea E; Tiranti V; Bordoni A; Toscano A; Bono F; Servidei S; Papadimitriou A; Spelbrink H; Silvestri L; Casari G; Comi GP; Zeviani M
    Ann Neurol; 2002 Aug; 52(2):211-9. PubMed ID: 12210792
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Progressive external ophthalmoplegia and multiple mitochondrial DNA deletions.
    Van Goethem G; Martin JJ; Van Broeckhoven C
    Acta Neurol Belg; 2002 Mar; 102(1):39-42. PubMed ID: 12094562
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations.
    Milone M; Brunetti-Pierri N; Tang LY; Kumar N; Mezei MM; Josephs K; Powell S; Simpson E; Wong LJ
    Neuromuscul Disord; 2008 Aug; 18(8):626-32. PubMed ID: 18585914
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The unfolding clinical spectrum of POLG mutations.
    Blok MJ; van den Bosch BJ; Jongen E; Hendrickx A; de Die-Smulders CE; Hoogendijk JE; Brusse E; de Visser M; Poll-The BT; Bierau J; de Coo IF; Smeets HJ
    J Med Genet; 2009 Nov; 46(11):776-85. PubMed ID: 19578034
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutations in DNA polymerase gamma cause error prone DNA synthesis in human mitochondrial disorders.
    Copeland WC; Ponamarev MV; Nguyen D; Kunkel TA; Longley MJ
    Acta Biochim Pol; 2003; 50(1):155-67. PubMed ID: 12673356
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy.
    Van Goethem G; Schwartz M; Löfgren A; Dermaut B; Van Broeckhoven C; Vissing J
    Eur J Hum Genet; 2003 Jul; 11(7):547-9. PubMed ID: 12825077
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations.
    Kollberg G; Jansson M; Pérez-Bercoff A; Melberg A; Lindberg C; Holme E; Moslemi AR; Oldfors A
    Eur J Hum Genet; 2005 Apr; 13(4):463-9. PubMed ID: 15702133
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations.
    Weiss MD; Saneto RP
    Muscle Nerve; 2010 Jun; 41(6):882-5. PubMed ID: 20513108
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism.
    Hudson G; Schaefer AM; Taylor RW; Tiangyou W; Gibson A; Venables G; Griffiths P; Burn DJ; Turnbull DM; Chinnery PF
    Arch Neurol; 2007 Apr; 64(4):553-7. PubMed ID: 17420318
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders.
    Cohen BH; Naviaux RK
    Methods; 2010 Aug; 51(4):364-73. PubMed ID: 20558295
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.
    Tang S; Wang J; Lee NC; Milone M; Halberg MC; Schmitt ES; Craigen WJ; Zhang W; Wong LJ
    J Med Genet; 2011 Oct; 48(10):669-81. PubMed ID: 21880868
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA.
    Andreu AL; Hanna MG; Reichmann H; Bruno C; Penn AS; Tanji K; Pallotti F; Iwata S; Bonilla E; Lach B; Morgan-Hughes J; DiMauro S
    N Engl J Med; 1999 Sep; 341(14):1037-44. PubMed ID: 10502593
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia.
    Moslemi AR; Melberg A; Holme E; Oldfors A
    Ann Neurol; 1996 Nov; 40(5):707-13. PubMed ID: 8957011
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population.
    González-Vioque E; Blázquez A; Fernández-Moreira D; Bornstein B; Bautista J; Arpa J; Navarro C; Campos Y; Fernández-Moreno MA; Garesse R; Arenas J; Martín MA
    Arch Neurol; 2006 Jan; 63(1):107-11. PubMed ID: 16401742
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 36.