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 *

173 related articles for article (PubMed ID: 16682683)

  • 1. POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.
    Hudson G; Deschauer M; Taylor RW; Hanna MG; Fialho D; Schaefer AM; He LP; Blakely E; Turnbull DM; Chinnery PF
    Neurology; 2006 May; 66(9):1439-41. PubMed ID: 16682683
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).
    Agostino A; Valletta L; Chinnery PF; Ferrari G; Carrara F; Taylor RW; Schaefer AM; Turnbull DM; Tiranti V; Zeviani M
    Neurology; 2003 Apr; 60(8):1354-6. PubMed ID: 12707443
    [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. Remarkable infidelity of polymerase gammaA associated with mutations in POLG1 exonuclease domain.
    Del Bo R; Bordoni A; Sciacco M; Di Fonzo A; Galbiati S; Crimi M; Bresolin N; Comi GP
    Neurology; 2003 Oct; 61(7):903-8. PubMed ID: 14557557
    [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. 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]  

  • 7. Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle.
    Van Goethem G; Löfgren A; Dermaut B; Ceuterick C; Martin JJ; Van Broeckhoven C
    Hum Mutat; 2003 Aug; 22(2):175-6. PubMed ID: 12872260
    [No Abstract]   [Full Text] [Related]  

  • 8. Novel mutation in C10orf2 associated with multiple mtDNA deletions, chronic progressive external ophthalmoplegia and premature aging.
    Paramasivam A; Meena AK; Pedaparthi L; Jyothi V; Uppin MS; Jabeen SA; Sundaram C; Thangaraj K
    Mitochondrion; 2016 Jan; 26():81-5. PubMed ID: 26689116
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. [ANT1, twinkle, POLG mutation].
    Komaki H; Goto Y
    Nihon Rinsho; 2002 Apr; 60 Suppl 4():353-6. PubMed ID: 12013885
    [No Abstract]   [Full Text] [Related]  

  • 11. 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]  

  • 12. Two families with autosomal dominant progressive external ophthalmoplegia.
    Kiechl S; Horváth R; Luoma P; Kiechl-Kohlendorfer U; Wallacher-Scholz B; Stucka R; Thaler C; Wanschitz J; Suomalainen A; Jaksch M; Willeit J
    J Neurol Neurosurg Psychiatry; 2004 Aug; 75(8):1125-8. PubMed ID: 15258213
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA.
    Wanrooij S; Luoma P; van Goethem G; van Broeckhoven C; Suomalainen A; Spelbrink JN
    Nucleic Acids Res; 2004; 32(10):3053-64. PubMed ID: 15181170
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. A new POLG1 mutation with peo and severe axonal and demyelinating sensory-motor neuropathy.
    Santoro L; Manganelli F; Lanzillo R; Tessa A; Barbieri F; Pierelli F; Di Giacinto G; Nigro V; Santorelli FM
    J Neurol; 2006 Jul; 253(7):869-74. PubMed ID: 16715201
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy.
    Palmieri L; Alberio S; Pisano I; Lodi T; Meznaric-Petrusa M; Zidar J; Santoro A; Scarcia P; Fontanesi F; Lamantea E; Ferrero I; Zeviani M
    Hum Mol Genet; 2005 Oct; 14(20):3079-88. PubMed ID: 16155110
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Suppression of mitochondrial DNA instability of autosomal dominant forms of progressive external ophthalmoplegia-associated ANT1 mutations in Podospora anserina.
    El-Khoury R; Sainsard-Chanet A
    Genetics; 2009 Nov; 183(3):861-71. PubMed ID: 19687137
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Alzheimer pathology associated with POLG1 mutation, multiple mtDNA deletions, and APOE4/4: premature ageing or just coincidence?
    Melberg A; Nennesmo I; Moslemi AR; Kollberg G; Luoma P; Suomalainen A; Holme E; Oldfors A
    Acta Neuropathol; 2005 Sep; 110(3):315-6. PubMed ID: 15981013
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 9.