| 1 | AMS1, POLG
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| POLG-associated ataxias can represent a substantial part of recessive and sporadic ataxias in adults.
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| Nuzhnyi E, Seliverstov Y, Klyushnikov S, Krylova T, Tsygankova P, Bychkov I, Zakharova E, Konovalov R, Fedin P, Abramycheva N, Illarioshkin S.
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| Clin Neurol Neurosurg. Feb;201:106462. doi: 10.1016/j.clineuro.2020.106462. Epub 2021 Jan 7. 2021
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| 2 | AMS1, PEO1, POLG
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| The unfolding clinical spectrum of POLG mutations.
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| 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.
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| J Med Genet 46(11):776-85. Epub 2009 Jul 2.PMID: 19578034 2009
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| 3 | AMS1, C10orf2, IOSCA, POLG
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| Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion.
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| Hakonen AH, Goffart S, Marjavaara S, Paetau A, Cooper H, Mattila K, Lampinen M, Sajantila A, Lönnqvist T, Spelbrink JN, Suomalainen A.
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| Hum Mol Genet 17(23):3822-35. Epub 2008 Sep 5. 2008
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| 4 | AMS1, MNGIE2, PEO1, PNDC, POLG, SANDO
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| Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
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| Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC.
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| Hum Mutat 29(9):E150-E172. [Epub ahead of print] 2008
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| 5 | AMS1, POLG
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| POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease.
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| Harrower T, Stewart JD, Hudson G, Houlden H, Warner G, O'Donovan DG, Findlay LJ, Taylor RW, De Silva R, Chinnery PF.
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| Arch Neurol 65(1):133-6.PMID: 18195151 2008
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| 6 | AMS1, POLG
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| Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders.
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| Hakonen AH, Davidzon G, Salemi R, Bindoff LA, Van Goethem G, Dimauro S, Thorburn DR, Suomalainen A.
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| Eur J Hum Genet 15(7):779-83. Epub 2007 Apr 11. 2007
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| 7 | AMS1, POLG
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| Do carriers of POLG mutation W748S have disease manifestations?
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| Rantamki M, Luoma P, Virta JJ, Rinne JO, Paetau A, Suomalainen A, Udd B.
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| Clin Genet 72(6):532-7. Epub 2007 Sep 25. 2007
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| 8 | POLG,AMS1, PNDC, SANDO
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| The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases.
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| Tzoulis C, Engelsen BA, Telstad W, Aasly J, Zeviani M, Winterthun S, Ferrari G, Aarseth JH, Bindoff LA.
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| Brain 129(Pt 7):1685-92. Epub 2006 Apr 25. 2006
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| 9 | POLG, AMS1, PNDC, SANDO
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| Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
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| Horvath R, Hudson G, Ferrari G, Futterer N, Ahola S, Lamantea E, Prokisch H, Lochmuller 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.
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| Brain 129(Pt 7):1674-84. Epub 2006 Apr 18. 2006
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| 10 | POLG, AMS1
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| Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.
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| Luoma PT, Luo N, Loscher WN, Farr CL, Horvath R, Wanschitz J, Kiechl S, Kaguni LS, Suomalainen A.
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| Hum Mol Genet 14(14):1907-20. Epub 2005 May 25. 2005
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| 11 | AMS1, POLG
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| Mitochondrial DNA Polymerase W748S Mutation: A Common Cause of Autosomal Recessive Ataxia with Ancient European Origin.
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| Hakonen AH, Heiskanen S, Juvonen V, Lappalainen I, Luoma PT, Rantamaki M, Goethem GV, Lofgren A, Hackman P, Paetau A, Kaakkola S, Majamaa K, Varilo T, Udd B, Kaariainen H, Bindoff LA, Suomalainen A.
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| Am J Hum Genet 77(3):430-41. Epub 2005 Jul 27. 2005
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