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9. POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection. Engelsen BA; Tzoulis C; Karlsen B; Lillebø A; Laegreid LM; Aasly J; Zeviani M; Bindoff LA Brain; 2008 Mar; 131(Pt 3):818-28. PubMed ID: 18238797 [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. Rapidly progressive neurological deterioration in a child with Alpers syndrome exhibiting a previously unremarkable brain MRI. Brunetti-Pierri N; Selby K; O'Sullivan M; Hendson G; Truong C; Waters PJ; Wong LJ Neuropediatrics; 2008 Jun; 39(3):179-83. PubMed ID: 18991199 [TBL] [Abstract][Full Text] [Related]
12. Partial status epilepticus - rapid genetic diagnosis of Alpers' disease. McCoy B; Owens C; Howley R; Ryan S; King M; Farrell MA; Lynch BJ Eur J Paediatr Neurol; 2011 Nov; 15(6):558-62. PubMed ID: 21704543 [TBL] [Abstract][Full Text] [Related]
13. Acute liver failure after valproate exposure in patients with POLG1 mutations and the prognosis after liver transplantation. Hynynen J; Komulainen T; Tukiainen E; Nordin A; Arola J; Kälviäinen R; Jutila L; Röyttä M; Hinttala R; Majamaa K; Mäkisalo H; Uusimaa J Liver Transpl; 2014 Nov; 20(11):1402-12. PubMed ID: 25065347 [TBL] [Abstract][Full Text] [Related]
14. 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 [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. Magnesium treatment for patients with refractory status epilepticus due to POLG1-mutations. Visser NA; Braun KP; Leijten FS; van Nieuwenhuizen O; Wokke JH; van den Bergh WM J Neurol; 2011 Feb; 258(2):218-22. PubMed ID: 20803213 [TBL] [Abstract][Full Text] [Related]
17. 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]
19. Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations. Kollberg G; Jansson M; Pérez-Bercoff A; Melberg A; Lindberg C; Holme E; Moslemi AR; Oldfors A Eur J Hum Genet; 2005 Apr; 13(4):463-9. PubMed ID: 15702133 [TBL] [Abstract][Full Text] [Related]
20. Drug-resistant epilepsia and fulminant valproate liver toxicity. Alpers-Huttenlocher syndrome in two children confirmed post mortem by identification of p.W748S mutation in POLG gene. Pronicka E; Weglewska-Jurkiewicz A; Pronicki M; Sykut-Cegielska J; Kowalski P; Pajdowska M; Jankowska I; Kotulska K; Kalicinski P; Jakobkiewicz-Banecka J; Wegrzyn G Med Sci Monit; 2011 Apr; 17(4):CR203-9. PubMed ID: 21455106 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]