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Journal Abstract Search

247 related items for PubMed ID: 23250882

  • 1. What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?
    Neeve VC, Samuels DC, Bindoff LA, van den Bosch B, Van Goethem G, Smeets H, Lombès A, Jardel C, Hirano M, Dimauro S, De Vries M, Smeitink J, Smits BW, de Coo IF, Saft C, Klopstock T, Keiling BC, Czermin B, Abicht A, Lochmüller H, Hudson G, Gorman GG, Turnbull DM, Taylor RW, Holinski-Feder E, Chinnery PF, Horvath R.
    Brain; 2012 Dec; 135(Pt 12):3614-26. PubMed ID: 23250882
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  • 2. A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.
    Rajakulendran S, Pitceathly RD, Taanman JW, Costello H, Sweeney MG, Woodward CE, Jaunmuktane Z, Holton JL, Jacques TS, Harding BN, Fratter C, Hanna MG, Rahman S.
    PLoS One; 2016 Dec; 11(1):e0145500. PubMed ID: 26735972
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  • 5. Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
    Horvath R, Hudson G, Ferrari G, Fütterer N, Ahola S, Lamantea E, Prokisch H, Lochmüller H, McFarland R, Ramesh V, Klopstock T, Freisinger P, Salvi F, Mayr JA, Santer R, Tesarova M, Zeman J, Udd B, Taylor RW, Turnbull D, Hanna M, Fialho D, Suomalainen A, Zeviani M, Chinnery PF.
    Brain; 2006 Jul; 129(Pt 7):1674-84. PubMed ID: 16621917
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  • 6. Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia.
    Van Goethem G, Martin JJ, Dermaut B, Löfgren A, Wibail A, Ververken D, Tack P, Dehaene I, Van Zandijcke M, Moonen M, Ceuterick C, De Jonghe P, Van Broeckhoven C.
    Neuromuscul Disord; 2003 Feb; 13(2):133-42. PubMed ID: 12565911
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  • 7. POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.
    Naviaux RK, Nguyen KV.
    Ann Neurol; 2004 May; 55(5):706-12. PubMed ID: 15122711
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  • 8. A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.
    Kurt B, Jaeken J, Van Hove J, Lagae L, Löfgren A, Everman DB, Jayakar P, Naini A, Wierenga KJ, Van Goethem G, Copeland WC, DiMauro S.
    Arch Neurol; 2010 Feb; 67(2):239-44. PubMed ID: 20142534
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  • 13. POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.
    Van Goethem G, Luoma P, Rantamäki M, Al Memar A, Kaakkola S, Hackman P, Krahe R, Löfgren A, Martin JJ, De Jonghe P, Suomalainen A, Udd B, Van Broeckhoven C.
    Neurology; 2004 Oct 12; 63(7):1251-7. PubMed ID: 15477547
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  • 14. Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases.
    Hikmat O, Naess K, Engvall M, Klingenberg C, Rasmussen M, Tallaksen CM, Brodtkorb E, Ostergaard E, de Coo IFM, Pias-Peleteiro L, Isohanni P, Uusimaa J, Darin N, Rahman S, Bindoff LA.
    J Inherit Metab Dis; 2020 Jul 12; 43(4):726-736. PubMed ID: 32391929
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  • 15. POLG mutations in Alpers syndrome.
    Nguyen KV, Østergaard E, Ravn SH, Balslev T, Danielsen ER, Vardag A, McKiernan PJ, Gray G, Naviaux RK.
    Neurology; 2005 Nov 08; 65(9):1493-5. PubMed ID: 16177225
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  • 16. 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 08; 255(9):1384-91. PubMed ID: 18575922
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  • 19. Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.
    Winterthun S, Ferrari G, He L, Taylor RW, Zeviani M, Turnbull DM, Engelsen BA, Moen G, Bindoff LA.
    Neurology; 2005 Apr 12; 64(7):1204-8. PubMed ID: 15824347
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  • 20. Patient homozygous for a recessive POLG mutation presents with features of MERRF.
    Van Goethem G, Mercelis R, Löfgren A, Seneca S, Ceuterick C, Martin JJ, Van Broeckhoven C.
    Neurology; 2003 Dec 23; 61(12):1811-3. PubMed ID: 14694057
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