BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

201 related articles for article (PubMed ID: 20880070)

  • 1. 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]  

  • 2. 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]  

  • 3. Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle.
    Baloh RH; Salavaggione E; Milbrandt J; Pestronk A
    Arch Neurol; 2007 Jul; 64(7):998-1000. PubMed ID: 17620490
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. Twinkle mutation in an Italian family with external progressive ophthalmoplegia and parkinsonism: a case report and an update on the state of art.
    Kiferle L; Orsucci D; Mancuso M; Lo Gerfo A; Petrozzi L; Siciliano G; Ceravolo R; Bonuccelli U
    Neurosci Lett; 2013 Nov; 556():1-4. PubMed ID: 24076137
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling.
    Goffart S; Cooper HM; Tyynismaa H; Wanrooij S; Suomalainen A; Spelbrink JN
    Hum Mol Genet; 2009 Jan; 18(2):328-40. PubMed ID: 18971204
    [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. 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]  

  • 10. Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change.
    Tafakhori A; Yu Jin Ng A; Tohari S; Venkatesh B; Lee H; Eskin A; Nelson SF; Bonnard C; Reversade B; Kariminejad A
    Arch Iran Med; 2016 Feb; 19(2):87-91. PubMed ID: 26838077
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation.
    Kierdaszuk B; Kaliszewska M; Rusecka J; Kosińska J; Bartnik E; Tońska K; Kamińska AM; Kostera-Pruszczyk A
    Genes (Basel); 2020 Dec; 12(1):. PubMed ID: 33396418
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure.
    Bohlega S; Van Goethem G; Al Semari A; Löfgren A; Al Hamed M; Van Broeckhoven C; Kambouris M
    Neuromuscul Disord; 2009 Dec; 19(12):845-8. PubMed ID: 19853444
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Investigation on mtDNA deletions and twinkle gene mutation (G1423C) in Iranian patients with chronic progressive external opthalmoplagia.
    Houshmand M; Panahi MS; Hosseini BN; Dorraj GH; Tabassi AR
    Neurol India; 2006 Jun; 54(2):182-5. PubMed ID: 16804265
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 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. Clinical phenotype of autosomal dominant progressive external ophthalmoplegia in a family with a novel mutation in the C10orf2 gene.
    Hong D; Bi H; Yao S; Wang Z; Yuan Y
    Muscle Nerve; 2010 Jan; 41(1):92-9. PubMed ID: 19705478
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 11.