BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

575 related articles for article (PubMed ID: 12094562)

  • 1. 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]  

  • 2. Diseases caused by nuclear genes affecting mtDNA stability.
    Suomalainen A; Kaukonen J
    Am J Med Genet; 2001; 106(1):53-61. PubMed ID: 11579425
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy.
    Van Goethem G; Schwartz M; Löfgren A; Dermaut B; Van Broeckhoven C; Vissing J
    Eur J Hum Genet; 2003 Jul; 11(7):547-9. PubMed ID: 12825077
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.
    Tyynismaa H; Sun R; Ahola-Erkkilä S; Almusa H; Pöyhönen R; Korpela M; Honkaniemi J; Isohanni P; Paetau A; Wang L; Suomalainen A
    Hum Mol Genet; 2012 Jan; 21(1):66-75. PubMed ID: 21937588
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions.
    Komaki H; Fukazawa T; Houzen H; Yoshida K; Nonaka I; Goto Y
    Ann Neurol; 2002 May; 51(5):645-8. PubMed ID: 12112115
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The unfolding clinical spectrum of POLG mutations.
    Blok MJ; van den Bosch BJ; Jongen E; Hendrickx A; de Die-Smulders CE; Hoogendijk JE; Brusse E; de Visser M; Poll-The BT; Bierau J; de Coo IF; Smeets HJ
    J Med Genet; 2009 Nov; 46(11):776-85. PubMed ID: 19578034
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Autosomal disorders of mitochondrial DNA maintenance.
    Van Goethem G
    Acta Neurol Belg; 2006 Jun; 106(2):66-72. PubMed ID: 16898256
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders.
    Cohen BH; Naviaux RK
    Methods; 2010 Aug; 51(4):364-73. PubMed ID: 20558295
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Depletion of the other genome-mitochondrial DNA depletion syndromes in humans.
    Elpeleg O; Mandel H; Saada A
    J Mol Med (Berl); 2002 Jul; 80(7):389-96. PubMed ID: 12110944
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Mice with neuron-specific accumulation of mitochondrial DNA mutations show mood disorder-like phenotypes.
    Kasahara T; Kubota M; Miyauchi T; Noda Y; Mouri A; Nabeshima T; Kato T
    Mol Psychiatry; 2006 Jun; 11(6):577-93, 523. PubMed ID: 16619054
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations.
    Kollberg G; Jansson M; Pérez-Bercoff A; Melberg A; Lindberg C; Holme E; Moslemi AR; Oldfors A
    Eur J Hum Genet; 2005 Apr; 13(4):463-9. PubMed ID: 15702133
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability and the initiation of a genetic classification.
    Van Goethem G; Martin JJ; Van Broeckhoven C
    Neuromolecular Med; 2003; 3(3):129-46. PubMed ID: 12835509
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Chronic progressive external ophthalmoplegia--symptom or syndrome?].
    Bau V; Deschauer M; Zierz S
    Klin Monbl Augenheilkd; 2009 Oct; 226(10):822-8. PubMed ID: 19830638
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Thymidine phosphorylase mutations cause instability of mitochondrial DNA.
    Hirano M; Lagier-Tourenne C; Valentino ML; Martí R; Nishigaki Y
    Gene; 2005 Jul; 354():152-6. PubMed ID: 15975738
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Multiple mitochondrial DNA deletions in chronic progressive external ophthalmoplegia (CPEO)].
    Kawashima S; Nishizawa M
    Nihon Rinsho; 1993 Sep; 51(9):2391-5. PubMed ID: 8411718
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Association in the same patient of autosomal dominant progressive external ophthalmoplegia with multiple mtDNA deletions and X-linked ichthyosis: clinical, biochemical, histological, submicroscopic and molecular genetic study.
    Federico A; Dotti MT; Cardaioli E; Grieco G; Malandrini A; Manneschi L; Plewnia K; Rufa A; Renieri A; Bruttini M; Perticoni GF
    J Submicrosc Cytol Pathol; 1998 Oct; 30(4):521-6. PubMed ID: 9851061
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 29.