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Journal Abstract Search

121 related items for PubMed ID: 12013910

  • 1. [Autosomal dominant chronic progressive external ophthalmoplegia].
    Higuchi I, Nakagawa M.
    Nihon Rinsho; 2002 Apr; 60 Suppl 4():450-4. PubMed ID: 12013910
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  • 4. [ANT1, twinkle, POLG mutation].
    Komaki H, Goto Y.
    Nihon Rinsho; 2002 Apr; 60 Suppl 4():353-6. PubMed ID: 12013885
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  • 7. 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 31; 12(1):. PubMed ID: 33396418
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  • 11. A PCR test for progressive external ophthalmoplegia and Kearns-Sayre syndrome on DNA from blood samples.
    De Coo IF, Gussinklo T, Arts PJ, Van Oost BA, Smeets HJ.
    J Neurol Sci; 1997 Jul 31; 149(1):37-40. PubMed ID: 9168163
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  • 12. Autosomal dominant chronic progressive external ophthalmoplegia: a tale of two genomes.
    Shoubridge EA.
    Ann Neurol; 1996 Nov 31; 40(5):693-4. PubMed ID: 8957008
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  • 13. [Progressive external ophthalmoplegia and the Kearns-Sayre syndrome: a clinical and molecular study of 6 cases].
    Barrientos A, Casademont J, Grau JM, Cardellach F, Montoya J, Estivill X, Urbano-Márquez A, Nunes V.
    Med Clin (Barc); 1995 Jul 01; 105(5):180-4. PubMed ID: 7630231
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  • 14. Progressive external ophthalmoplegia and multiple mitochondrial DNA deletions.
    Van Goethem G, Martin JJ, Van Broeckhoven C.
    Acta Neurol Belg; 2002 Mar 01; 102(1):39-42. PubMed ID: 12094562
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  • 15. [Chronic progressive external ophthalmoplegia--symptom or syndrome?].
    Bau V, Deschauer M, Zierz S.
    Klin Monbl Augenheilkd; 2009 Oct 01; 226(10):822-8. PubMed ID: 19830638
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  • 16. 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 01; 22(2):175-6. PubMed ID: 12872260
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  • 17. Clinical Phenotype and Genetic Features of a Pair of Chinese Twins with Kearns-Sayre Syndrome.
    Guo L, Wang X, Ji H.
    DNA Cell Biol; 2020 Aug 01; 39(8):1449-1457. PubMed ID: 32609007
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  • 18. Characterisation of repeat and palindrome elements in patients harbouring single deletions of mitochondrial DNA.
    Solano A, Gámez J, Carod FJ, Pineda M, Playán A, López-Gallardo E, Andreu AL, Montoya J.
    J Med Genet; 2003 Jul 01; 40(7):e86. PubMed ID: 12843335
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  • 19. [Mitochondrial DNA mutations in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome].
    Wang ZX, Yuan Y, Gao F, Qi Y, Shen DG, Chen QT.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Aug 01; 20(4):273-8. PubMed ID: 12903032
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  • 20. Deletion screening of mitochondrial DNA via multiprimer DNA amplification.
    Ernst BP, Wilichowski E, Wagner M, Hanefeld F.
    Mol Cell Probes; 1994 Feb 01; 8(1):45-9. PubMed ID: 8028607
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