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Journal Abstract Search

155 related items for PubMed ID: 8941270

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  • 3. [Familial progressive external opthalmoplegia, parkinsonism and polyneuropathy associated with POLG1 mutation].
    Mukai M, Sugaya K, Matsubara S, Cai H, Yabe I, Sasaki H, Nakano I.
    Rinsho Shinkeigaku; 2014; 54(5):417-22. PubMed ID: 24943079
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  • 5. Multiple deletions in mitochondrial DNA in a patient with progressive external ophthalmoplegia, leukoencephalopathy and hypogonadism.
    Ohnuki Y, Takahashi K, Iijima E, Takahashi W, Suzuki S, Ozaki Y, Kitao R, Mihara M, Ishihara T, Nakamura M, Sawano Y, Goto Y, Izumi S, Kulski JK, Shiina T, Takizawa S.
    Intern Med; 2014; 53(12):1365-9. PubMed ID: 24930659
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  • 7. [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
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  • 11. 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
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  • 14. Mapping of autosomal dominant progressive external ophthalmoplegia to a 7-cM critical region on 10q24.
    Li FY, Tariq M, Croxen R, Morten K, Squier W, Newsom-Davis J, Beeson D, Larsson C.
    Neurology; 1999 Oct 12; 53(6):1265-71. PubMed ID: 10522883
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  • 15. 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 12; 18(3):436-41. PubMed ID: 20880070
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  • 17. 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 12; 75(8):1125-8. PubMed ID: 15258213
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  • 18. 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 12; 149A(5):861-7. PubMed ID: 19353676
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  • 19. Muscle-nerve involvement in autosomal dominant progressive external ophthalmoplegia with hypogonadism.
    Melberg A, Lundberg PO, Henriksson KG, Olsson Y, Stålberg E.
    Muscle Nerve; 1996 Jun 12; 19(6):751-7. PubMed ID: 8609926
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