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 *

234 related articles for article (PubMed ID: 18195150)

  • 1. Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1.
    Ferraris S; Clark S; Garelli E; Davidzon G; Moore SA; Kardon RH; Bienstock RJ; Longley MJ; Mancuso M; Gutiérrez Ríos P; Hirano M; Copeland WC; DiMauro S
    Arch Neurol; 2008 Jan; 65(1):125-31. PubMed ID: 18195150
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia.
    Longley MJ; Clark S; Yu Wai Man C; Hudson G; Durham SE; Taylor RW; Nightingale S; Turnbull DM; Copeland WC; Chinnery PF
    Am J Hum Genet; 2006 Jun; 78(6):1026-34. PubMed ID: 16685652
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.
    Virgilio R; Ronchi D; Hadjigeorgiou GM; Bordoni A; Saladino F; Moggio M; Adobbati L; Kafetsouli D; Tsironi E; Previtali S; Papadimitriou A; Bresolin N; Comi GP
    J Neurol; 2008 Sep; 255(9):1384-91. PubMed ID: 18575922
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma.
    Filosto M; Mancuso M; Nishigaki Y; Pancrudo J; Harati Y; Gooch C; Mankodi A; Bayne L; Bonilla E; Shanske S; Hirano M; DiMauro S
    Arch Neurol; 2003 Sep; 60(9):1279-84. PubMed ID: 12975295
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Novel POLG splice site mutation and optic atrophy.
    Milone M; Wang J; Liewluck T; Chen LC; Leavitt JA; Wong LJ
    Arch Neurol; 2011 Jun; 68(6):806-11. PubMed ID: 21670405
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.
    Hudson G; Amati-Bonneau P; Blakely EL; Stewart JD; He L; Schaefer AM; Griffiths PG; Ahlqvist K; Suomalainen A; Reynier P; McFarland R; Turnbull DM; Chinnery PF; Taylor RW
    Brain; 2008 Feb; 131(Pt 2):329-37. PubMed ID: 18065439
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Sporadic PEO caused by a novel POLG variation and a Twinkle mutation: digenic inheritance?
    Da Pozzo P; Rubegni A; Rufa A; Cardaioli E; Taglia I; Gallus GN; Malandrini A; Federico A
    Neurol Sci; 2015 Sep; 36(9):1713-5. PubMed ID: 26050231
    [TBL] [Abstract][Full Text] [Related]  

  • 9. POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype.
    Komulainen T; Hinttala R; Kärppä M; Pajunen L; Finnilä S; Tuominen H; Rantala H; Hassinen I; Majamaa K; Uusimaa J
    BMC Neurol; 2010 May; 10():29. PubMed ID: 20438629
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Familial progressive external opthalmoplegia, parkinsonism and polyneuropathy associated with POLG1 mutation].
    Mukai M; Sugaya K; Matsubara S; Cai H; Yabe I; Sasaki H; Nakano I
    Rinsho Shinkeigaku; 2014; 54(5):417-22. PubMed ID: 24943079
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia.
    Van Goethem G; Martin JJ; Dermaut B; Löfgren A; Wibail A; Ververken D; Tack P; Dehaene I; Van Zandijcke M; Moonen M; Ceuterick C; De Jonghe P; Van Broeckhoven C
    Neuromuscul Disord; 2003 Feb; 13(2):133-42. PubMed ID: 12565911
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia].
    Posada IJ; Gallardo ME; Domínguez C; Rivera H; Cabello A; Arenas J; Martín MA; Garesse R; Bornstein B
    Med Clin (Barc); 2010 Oct; 135(10):452-5. PubMed ID: 20576279
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions.
    Tyynismaa H; Ylikallio E; Patel M; Molnar MJ; Haller RG; Suomalainen A
    Am J Hum Genet; 2009 Aug; 85(2):290-5. PubMed ID: 19664747
    [TBL] [Abstract][Full Text] [Related]  

  • 14. POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.
    Van Goethem G; Luoma P; Rantamäki M; Al Memar A; Kaakkola S; Hackman P; Krahe R; Löfgren A; Martin JJ; De Jonghe P; Suomalainen A; Udd B; Van Broeckhoven C
    Neurology; 2004 Oct; 63(7):1251-7. PubMed ID: 15477547
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Progressive external ophthalmoplegia in southwestern Finland: a clinical and genetic study.
    Martikainen MH; Hinttala R; Röyttä M; Jääskeläinen S; Wendelin-Saarenhovi M; Parkkola R; Majamaa K
    Neuroepidemiology; 2012; 38(2):114-9. PubMed ID: 22377773
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1.
    Payne M; Yang Z; Katz BJ; Warner JE; Weight CJ; Zhao Y; Pearson ED; Treft RL; Hillman T; Kennedy RJ; Meire FM; Zhang K
    Am J Ophthalmol; 2004 Nov; 138(5):749-55. PubMed ID: 15531309
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism.
    Mancuso M; Filosto M; Oh SJ; DiMauro S
    Arch Neurol; 2004 Nov; 61(11):1777-9. PubMed ID: 15534189
    [TBL] [Abstract][Full Text] [Related]  

  • 19. OPA1 in multiple mitochondrial DNA deletion disorders.
    Stewart JD; Hudson G; Yu-Wai-Man P; Blakeley EL; He L; Horvath R; Maddison P; Wright A; Griffiths PG; Turnbull DM; Taylor RW; Chinnery PF
    Neurology; 2008 Nov; 71(22):1829-31. PubMed ID: 19029523
    [No Abstract]   [Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 12.