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8. Alpers syndrome with prominent white matter changes. Bao X; Wu Y; Wong LJ; Zhang Y; Xiong H; Chou PC; Truong CK; Jiang Y; Qin J; Yuan Y; Lin Q; Wu X Brain Dev; 2008 Apr; 30(4):295-300. PubMed ID: 17923349 [TBL] [Abstract][Full Text] [Related]
9. Clonally expanded mitochondrial DNA mutations in epileptic individuals with mutated DNA polymerase gamma. Zsurka G; Baron M; Stewart JD; Kornblum C; Bös M; Sassen R; Taylor RW; Elger CE; Chinnery PF; Kunz WS J Neuropathol Exp Neurol; 2008 Sep; 67(9):857-66. PubMed ID: 18716558 [TBL] [Abstract][Full Text] [Related]
10. 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]
11. Application of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers Syndrome. Compton AG; Troedson C; Wilson M; Procopis PG; Li FY; Brundage EK; Yamazaki T; Thorburn DR; Wong LJ Mitochondrion; 2011 Jan; 11(1):104-7. PubMed ID: 20708716 [TBL] [Abstract][Full Text] [Related]
12. POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion. Naviaux RK; Nguyen KV Ann Neurol; 2005 Sep; 58(3):491. PubMed ID: 16130100 [No Abstract] [Full Text] [Related]
13. Consequences of mutations in human DNA polymerase gamma. Longley MJ; Graziewicz MA; Bienstock RJ; Copeland WC Gene; 2005 Jul; 354():125-31. PubMed ID: 15913923 [TBL] [Abstract][Full Text] [Related]
14. Status epilepticus in children with Alpers' disease caused by POLG1 mutations: EEG and MRI features. Wolf NI; Rahman S; Schmitt B; Taanman JW; Duncan AJ; Harting I; Wohlrab G; Ebinger F; Rating D; Bast T Epilepsia; 2009 Jun; 50(6):1596-607. PubMed ID: 19054397 [TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. Mono-allelic POLG expression resulting from nonsense-mediated decay and alternative splicing in a patient with Alpers syndrome. Chan SS; Longley MJ; Naviaux RK; Copeland WC DNA Repair (Amst); 2005 Dec; 4(12):1381-9. PubMed ID: 16181814 [TBL] [Abstract][Full Text] [Related]
19. Mitochondrial DNA polymerase gamma is essential for mammalian embryogenesis. Hance N; Ekstrand MI; Trifunovic A Hum Mol Genet; 2005 Jul; 14(13):1775-83. PubMed ID: 15888483 [TBL] [Abstract][Full Text] [Related]
20. POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome. Mousson de Camaret B; Chassagne M; Mayençon M; Padet S; Crehalet H; Clerc-Renaud P; Rouvet I; Zabot MT; Rivier F; Sarda P; des Portes V; Bozon D Mitochondrion; 2011 Jan; 11(1):223-7. PubMed ID: 20691285 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]