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Journal Abstract Search

299 related items for PubMed ID: 17420318

  • 1.
    ; . PubMed ID:
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  • 2. A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism.
    Mancuso M, Filosto M, Oh SJ, DiMauro S.
    Arch Neurol; 2004 Nov; 61(11):1777-9. PubMed ID: 15534189
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  • 4. Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.
    Lamantea E, Tiranti V, Bordoni A, Toscano A, Bono F, Servidei S, Papadimitriou A, Spelbrink H, Silvestri L, Casari G, Comi GP, Zeviani M.
    Ann Neurol; 2002 Aug; 52(2):211-9. PubMed ID: 12210792
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  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. Neuromelanin MRI in a family with mitochondrial parkinsonism harboring a Y955C mutation in POLG1.
    Mukai M, Sugaya K, Yabe I, Goto Y, Yokochi F, Miyamoto K, Cai H, Sasaki H, Matsubara S.
    Parkinsonism Relat Disord; 2013 Sep; 19(9):821-4. PubMed ID: 23673011
    [Abstract] [Full Text] [Related]

  • 7. A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia.
    Deschauer M, Hudson G, Müller T, Taylor RW, Chinnery PF, Zierz S.
    Neuromuscul Disord; 2005 Apr; 15(4):311-5. PubMed ID: 15792871
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  • 8. 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
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  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease.
    Luoma PT, Eerola J, Ahola S, Hakonen AH, Hellström O, Kivistö KT, Tienari PJ, Suomalainen A.
    Neurology; 2007 Sep 11; 69(11):1152-9. PubMed ID: 17846414
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  • 11. Progressive external ophthalmoplegia and multiple mitochondrial DNA deletions.
    Van Goethem G, Martin JJ, Van Broeckhoven C.
    Acta Neurol Belg; 2002 Mar 11; 102(1):39-42. PubMed ID: 12094562
    [Abstract] [Full Text] [Related]

  • 12. 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 11; 40(5):707-13. PubMed ID: 8957011
    [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 11; 255(9):1384-91. PubMed ID: 18575922
    [Abstract] [Full Text] [Related]

  • 14. 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 11; 46(11):776-85. PubMed ID: 19578034
    [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 11; 13(4):463-9. PubMed ID: 15702133
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  • 16. Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.
    Luoma P, Melberg A, Rinne JO, Kaukonen JA, Nupponen NN, Chalmers RM, Oldfors A, Rautakorpi I, Peltonen L, Majamaa K, Somer H, Suomalainen A.
    Lancet; 2005 Apr 11; 364(9437):875-82. PubMed ID: 15351195
    [Abstract] [Full Text] [Related]

  • 17. Early-onset familial parkinsonism due to POLG mutations.
    Davidzon G, Greene P, Mancuso M, Klos KJ, Ahlskog JE, Hirano M, DiMauro S.
    Ann Neurol; 2006 May 11; 59(5):859-62. PubMed ID: 16634032
    [Abstract] [Full Text] [Related]

  • 18. Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia.
    Graziewicz MA, Longley MJ, Bienstock RJ, Zeviani M, Copeland WC.
    Nat Struct Mol Biol; 2004 Aug 11; 11(8):770-6. PubMed ID: 15258572
    [Abstract] [Full Text] [Related]

  • 19. Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations.
    Weiss MD, Saneto RP.
    Muscle Nerve; 2010 Jun 11; 41(6):882-5. PubMed ID: 20513108
    [Abstract] [Full Text] [Related]

  • 20. Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).
    Agostino A, Valletta L, Chinnery PF, Ferrari G, Carrara F, Taylor RW, Schaefer AM, Turnbull DM, Tiranti V, Zeviani M.
    Neurology; 2003 Apr 22; 60(8):1354-6. PubMed ID: 12707443
    [Abstract] [Full Text] [Related]

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