BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

120 related articles for article (PubMed ID: 11431681)

  • 21. A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia.
    Deschauer M; Kiefer R; Blakely EL; He L; Zierz S; Turnbull DM; Taylor RW
    Neuromuscul Disord; 2003 Sep; 13(7-8):568-72. PubMed ID: 12921794
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Twinkle, the mitochondrial replicative DNA helicase, is widespread in the eukaryotic radiation and may also be the mitochondrial DNA primase in most eukaryotes.
    Shutt TE; Gray MW
    J Mol Evol; 2006 May; 62(5):588-99. PubMed ID: 16612544
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Mild ocular myopathy associated with a novel mutation in mitochondrial twinkle helicase.
    Rivera H; Blázquez A; Carretero J; Alvarez-Cermeño JC; Campos Y; Cabello A; Gonzalez-Vioque E; Borstein B; Garesse R; Arenas J; Martín MA
    Neuromuscul Disord; 2007 Oct; 17(9-10):677-80. PubMed ID: 17614277
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease.
    Van Hove JL; Cunningham V; Rice C; Ringel SP; Zhang Q; Chou PC; Truong CK; Wong LJ
    Am J Med Genet A; 2009 May; 149A(5):861-7. PubMed ID: 19353676
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Twinkle mutations in two Chinese families with autosomal dominant progressive external ophthalmoplegia.
    Ji K; Liu K; Lin P; Wen B; Luo YB; Zhao Y; Yan C
    Neurol Sci; 2014 Mar; 35(3):443-8. PubMed ID: 24091712
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Molecular analysis in a family presenting with a mild form of late-onset autosomal dominant chronic progressive external ophthalmoplegia.
    Negro R; Zoccolella S; Dell'aglio R; Amati A; Artuso L; Bisceglia L; Lavolpe V; Papa S; Serlenga L; Petruzzella V
    Neuromuscul Disord; 2009 Jun; 19(6):423-6. PubMed ID: 19428252
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism.
    Hudson G; Deschauer M; Busse K; Zierz S; Chinnery PF
    Neurology; 2005 Jan; 64(2):371-3. PubMed ID: 15668446
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. 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]  

  • 30. TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review.
    Martin-Negrier ML; Sole G; Jardel C; Vital C; Ferrer X; Vital A
    Eur J Neurol; 2011 Mar; 18(3):436-41. PubMed ID: 20880070
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A novel variation in the Twinkle linker region causing late-onset dementia.
    Echaniz-Laguna A; Chanson JB; Wilhelm JM; Sellal F; Mayençon M; Mohr M; Tranchant C; Mousson de Camaret B
    Neurogenetics; 2010 Feb; 11(1):21-5. PubMed ID: 19513767
    [TBL] [Abstract][Full Text] [Related]  

  • 32. The adenine nucleotide translocase type 1 (ANT1): a new factor in mitochondrial disease.
    Sharer JD
    IUBMB Life; 2005 Sep; 57(9):607-14. PubMed ID: 16203679
    [TBL] [Abstract][Full Text] [Related]  

  • 33. A novel Twinkle (PEO1) gene mutation in a Chinese family with adPEO.
    Liu Z; Ding Y; Du A; Zhang B; Zhao G; Ding M
    Mol Vis; 2008; 14():1995-2001. PubMed ID: 18989381
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Two novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegia.
    Ronchi D; Fassone E; Bordoni A; Sciacco M; Lucchini V; Di Fonzo A; Rizzuti M; Colombo I; Napoli L; Ciscato P; Moggio M; Cosi A; Collotta M; Corti S; Bresolin N; Comi GP
    J Neurol Sci; 2011 Sep; 308(1-2):173-6. PubMed ID: 21689831
    [TBL] [Abstract][Full Text] [Related]  

  • 35. ANT1, Twinkle, POLG, and TP: new genes open our eyes to ophthalmoplegia.
    Hirano M; DiMauro S
    Neurology; 2001 Dec; 57(12):2163-5. PubMed ID: 11756592
    [No Abstract]   [Full Text] [Related]  

  • 36. 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]  

  • 37. The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.
    Fratter C; Gorman GS; Stewart JD; Buddles M; Smith C; Evans J; Seller A; Poulton J; Roberts M; Hanna MG; Rahman S; Omer SE; Klopstock T; Schoser B; Kornblum C; Czermin B; Lecky B; Blakely EL; Craig K; Chinnery PF; Turnbull DM; Horvath R; Taylor RW
    Neurology; 2010 May; 74(20):1619-26. PubMed ID: 20479361
    [TBL] [Abstract][Full Text] [Related]  

  • 38. TWINKLE Has 5' -> 3' DNA helicase activity and is specifically stimulated by mitochondrial single-stranded DNA-binding protein.
    Korhonen JA; Gaspari M; Falkenberg M
    J Biol Chem; 2003 Dec; 278(49):48627-32. PubMed ID: 12975372
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family.
    Napoli L; Bordoni A; Zeviani M; Hadjigeorgiou GM; Sciacco M; Tiranti V; Terentiou A; Moggio M; Papadimitriou A; Scarlato G; Comi GP
    Neurology; 2001 Dec; 57(12):2295-8. PubMed ID: 11756613
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 6.