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3. Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note. de Vries MC; Rodenburg RJ; Morava E; Lammens M; van den Heuvel LP; Korenke GC; Smeitink JA J Inherit Metab Dis; 2008 Dec; 31 Suppl 2():S299-302. PubMed ID: 18500570 [TBL] [Abstract][Full Text] [Related]
4. Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. Ferrari G; Lamantea E; Donati A; Filosto M; Briem E; Carrara F; Parini R; Simonati A; Santer R; Zeviani M Brain; 2005 Apr; 128(Pt 4):723-31. PubMed ID: 15689359 [TBL] [Abstract][Full Text] [Related]
5. Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus. Uusimaa J; Hinttala R; Rantala H; Päivärinta M; Herva R; Röyttä M; Soini H; Moilanen JS; Remes AM; Hassinen IE; Majamaa K Epilepsia; 2008 Jun; 49(6):1038-45. PubMed ID: 18294203 [TBL] [Abstract][Full Text] [Related]
6. Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations. Ashley N; O'Rourke A; Smith C; Adams S; Gowda V; Zeviani M; Brown GK; Fratter C; Poulton J Hum Mol Genet; 2008 Aug; 17(16):2496-506. PubMed ID: 18487244 [TBL] [Abstract][Full Text] [Related]
8. Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children. 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 J Med Genet; 2009 Mar; 46(3):209-14. PubMed ID: 19251978 [TBL] [Abstract][Full Text] [Related]
9. 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 [TBL] [Abstract][Full Text] [Related]
10. Phenotypic and genotypic variability in Alpers syndrome. Sofou K; Moslemi AR; Kollberg G; Bjarnadóttir I; Oldfors A; Nennesmo I; Holme E; Tulinius M; Darin N Eur J Paediatr Neurol; 2012 Jul; 16(4):379-89. PubMed ID: 22237560 [TBL] [Abstract][Full Text] [Related]
11. 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 [TBL] [Abstract][Full Text] [Related]
12. Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy. Scalais E; Francois B; Schlesser P; Stevens R; Nuttin C; Martin JJ; Van Coster R; Seneca S; Roels F; Van Goethem G; Löfgren A; De Meirleir L Eur J Paediatr Neurol; 2012 Sep; 16(5):542-8. PubMed ID: 22342071 [TBL] [Abstract][Full Text] [Related]
14. Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome. Schaller A; Hahn D; Jackson CB; Kern I; Chardot C; Belli DC; Gallati S; Nuoffer JM BMC Neurol; 2011 Jan; 11():4. PubMed ID: 21235791 [TBL] [Abstract][Full Text] [Related]
15. Compound heterozygous polymerase gamma gene mutation in a patient with Alpers disease. Cardenas JF; Amato RS Semin Pediatr Neurol; 2010 Mar; 17(1):62-4. PubMed ID: 20434700 [TBL] [Abstract][Full Text] [Related]
16. Mitochondrial oxidative phosphorylation disorders in children: Phenotypic, genotypic and biochemical correlations in 85 patients from South India. Sonam K; Bindu PS; Srinivas Bharath MM; Govindaraj P; Gayathri N; Arvinda HR; Chiplunkar S; Nagappa M; Sinha S; Khan NA; Nunia V; Paramasivam A; Thangaraj K; Taly AB Mitochondrion; 2017 Jan; 32():42-49. PubMed ID: 27826120 [TBL] [Abstract][Full Text] [Related]
17. Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome. Naviaux RK; Nyhan WL; Barshop BA; Poulton J; Markusic D; Karpinski NC; Haas RH Ann Neurol; 1999 Jan; 45(1):54-8. PubMed ID: 9894877 [TBL] [Abstract][Full Text] [Related]
18. POLG mutations and Alpers syndrome. Davidzon G; Mancuso M; Ferraris S; Quinzii C; Hirano M; Peters HL; Kirby D; Thorburn DR; DiMauro S Ann Neurol; 2005 Jun; 57(6):921-3. PubMed ID: 15929042 [TBL] [Abstract][Full Text] [Related]
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20. Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. 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 Hum Mutat; 2008 Sep; 29(9):E150-72. PubMed ID: 18546365 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]