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 *

178 related articles for article (PubMed ID: 12872260)

  • 21. 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]  

  • 22. 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]  

  • 23. 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]  

  • 24. 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]  

  • 25. Clinical and molecular features of adPEO due to mutations in the Twinkle gene.
    Lewis S; Hutchison W; Thyagarajan D; Dahl HH
    J Neurol Sci; 2002 Sep; 201(1-2):39-44. PubMed ID: 12163192
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. Defects in mitochondrial DNA replication and human disease.
    Copeland WC
    Crit Rev Biochem Mol Biol; 2012; 47(1):64-74. PubMed ID: 22176657
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Structure-function defects of the TWINKLE linker region in progressive external ophthalmoplegia.
    Korhonen JA; Pande V; Holmlund T; Farge G; Pham XH; Nilsson L; Falkenberg M
    J Mol Biol; 2008 Mar; 377(3):691-705. PubMed ID: 18279890
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness.
    Mancuso M; Filosto M; Bellan M; Liguori R; Montagna P; Baruzzi A; DiMauro S; Carelli V
    Neurology; 2004 Jan; 62(2):316-8. PubMed ID: 14745080
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans.
    Baruffini E; Lodi T; Dallabona C; Puglisi A; Zeviani M; Ferrero I
    Hum Mol Genet; 2006 Oct; 15(19):2846-55. PubMed ID: 16940310
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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]  

  • 33. Genetic analysis of two Japanese families with progressive external ophthalmoplegia and parkinsonism.
    Sato K; Yabe I; Yaguchi H; Nakano F; Kunieda Y; Saitoh S; Sasaki H
    J Neurol; 2011 Jul; 258(7):1327-32. PubMed ID: 21301859
    [TBL] [Abstract][Full Text] [Related]  

  • 34. [Autosomal dominant chronic progressive external ophthalmoplegia].
    Higuchi I; Nakagawa M
    Nihon Rinsho; 2002 Apr; 60 Suppl 4():450-4. PubMed ID: 12013910
    [No Abstract]   [Full Text] [Related]  

  • 35. Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.
    Naïmi M; Bannwarth S; Procaccio V; Pouget J; Desnuelle C; Pellissier JF; Rötig A; Munnich A; Calvas P; Richelme C; Jonveaux P; Castelnovo G; Simon M; Clanet M; Wallace D; Paquis-Flucklinger V
    Eur J Hum Genet; 2006 Aug; 14(8):917-22. PubMed ID: 16639411
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. Structural basis for adPEO-causing mutations in the mitochondrial TWINKLE helicase.
    Peter B; Farge G; Pardo-Hernandez C; Tångefjord S; Falkenberg M
    Hum Mol Genet; 2019 Apr; 28(7):1090-1099. PubMed ID: 30496414
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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]  

  • 39. Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia.
    Takata A; Kato M; Nakamura M; Yoshikawa T; Kanba S; Sano A; Kato T
    Genome Biol; 2011 Sep; 12(9):R92. PubMed ID: 21951382
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 9.