| 1 | PNDC, POLG
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| POLG gene mutation. Clinico-neuropathological study.
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| Tarka S, Laure-Kamionowska M, Wierzba-Bobrowicz T, Witulska K, Ciara E, Szymańska K, Krajewski P, Stępień T, Acewicz A, Felczak P.
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| Folia Neuropathol. 58(4):386-392. doi: 10.5114/fn.2020.102441. 2020
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| 2 | PNDC, POLG1
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| POLG1 manifestations in childhood.
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| Isohanni P, Hakonen AH, Euro L, Paetau I, Linnankivi T, Liukkonen E, Wallden T, Luostarinen L, Valanne L, Paetau A, Uusimaa J, Lönnqvist T, Suomalainen A, Pihko H.
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| Neurology 76(9):811-5. 2011
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| 3 | PNDC, POLG1
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| Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children.
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| Stewart JD, Tennant S, Powell H, Pyle A, Blakely EL, He L, Hudson G, Roberts M, du Plessis D, Gow D, Mewasingh LD, Hanna MG, Omer S, Morris AA, Roxburgh R, Livingston JH, McFarland R, Turnbull DM, Chinnery PF, Taylor RW.
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| J Med Genet 46(3):209-14.
2009
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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 | PNDC, POLG
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| Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus.
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| Uusimaa J, Hinttala R, Rantala H, Päivärinta M, Herva R, Röyttä M, Soini H, Moilanen JS, Remes AM, Hassinen IE, Majamaa K.
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| Epilepsia 49(6):1038-45. Epub 2008 Feb 20.PMID: 18294203 2008
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| 6 | PNDC, POLG
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| Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations.
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| de Vries MC, Rodenburg RJ, Morava E, van Kaauwen EP, ter Laak H, Mullaart RA, Snoeck IN, van Hasselt PM, Harding P, van den Heuvel LP, Smeitink JA.
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| Eur J Pediatr 166(3):229-34. Epub 2006 Sep 7. 2007
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| 7 | PNDC, POLG
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| POLG1 mutations associated with progressive encephalopathy in childhood.
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| Kollberg G, Moslemi AR, Darin N, Nennesmo I, Bjarnadottir I, Uvebrant P, Holme E, Melberg A, Tulinius M, Oldfors A.
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| J Neuropathol Exp Neurol 65(8):758-68.
2006
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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 | PNDC, POLG
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| Molecular diagnosis of Alpers syndrome.
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| Nguyen KV, Sharief FS, Chan SS, Copeland WC, Naviaux RK.
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| J Hepatol 45(1):108-16. Epub 2006 Feb 20. 2006
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| 11 | POLG, PNDC
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| POLG mutations and Alpers syndrome.
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| Davidzon G, Mancuso M, Ferraris S, Quinzii C, Hirano M, Peters HL, Kirby D, Thorburn DR, DiMauro S.
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| Ann Neurol 57(6):921-3. 2005
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| 12 | POLG, PNDC
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| POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.
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| Naviaux RK, Nguyen KV.
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| Ann Neurol 55(5):706-12. 2004
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| 13 | PNDC
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| Respiratory chain deficiency in Alpers syndrome.
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| Gauthier-Villars M, Landrieu P, Cormier-Daire V, Jacquemin E, Chretien D, Rotig A, Rustin P, Munnich A, de Lonlay P.
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| Neuropediatrics 32(3):150-2. 2001
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