These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
3. 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]
4. [Early mitochondrial encephalomyopathy due to complex IV deficiency consistent with Alpers-Huttenlocher syndrome: report of two cases]. Castro-Gago M; González-Conde V; Fernández-Seara MJ; Rodrigo-Sáez E; Fernández-Cebrián S; Alonso-Martín A; Campos Y; Arenas J; Eirís-Puñal J Rev Neurol; 1999 Nov 16-30; 29(10):912-7. PubMed ID: 10637838 [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. Features of cell death in brain and liver, the target tissues of progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher disease). Simonati A; Filosto M; Savio C; Tomelleri G; Tonin P; Dalla Bernardina B; Rizzuto N Acta Neuropathol; 2003 Jul; 106(1):57-65. PubMed ID: 12721699 [TBL] [Abstract][Full Text] [Related]
7. 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]
9. 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]
10. Severe depletion of mitochondrial DNA in spinal muscular atrophy. Berger A; Mayr JA; Meierhofer D; Fötschl U; Bittner R; Budka H; Grethen C; Huemer M; Kofler B; Sperl W Acta Neuropathol; 2003 Mar; 105(3):245-51. PubMed ID: 12557011 [TBL] [Abstract][Full Text] [Related]
11. Alpers syndrome: progressive neuronal degeneration of children with liver disease. Gordon N Dev Med Child Neurol; 2006 Dec; 48(12):1001-3. PubMed ID: 17109792 [TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
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. Mitochondrial (mt)DNA changes in tissue may not be reflected by depletion of mtDNA in peripheral blood mononuclear cells in HIV-infected patients. Maagaard A; Holberg-Petersen M; Kollberg G; Oldfors A; Sandvik L; Bruun JN Antivir Ther; 2006; 11(5):601-8. PubMed ID: 16964828 [TBL] [Abstract][Full Text] [Related]
16. [Progressive myoclonic epilepsy as a sign of a late form of Alpers syndrome]. Galván-Manso M; Tabuenca Y; Medrano P; Ruiz-Escusol S; Giménez-Mas JA; López-Pisón J Rev Neurol; 2000 Dec 1-15; 31(11):1036-9. PubMed ID: 11190870 [TBL] [Abstract][Full Text] [Related]
17. [Alpers' infantile cerebral poliodystrophy. A case with abnormal hepatic pyruvate carboxylase]. Tommasi M; Jouvet-Telinge A; Kopp N; Pialat J; Gilly J Ann Anat Pathol (Paris); 1977; 22(4):337-42. PubMed ID: 615502 [TBL] [Abstract][Full Text] [Related]
18. A mutation in mitochondrial DNA-encoded cytochrome c oxidase II gene in a child with Alpers-Huttenlocher-like disease. Uusimaa J; Finnilä S; Vainionpää L; Kärppä M; Herva R; Rantala H; Hassinen IE; Majamaa K Pediatrics; 2003 Mar; 111(3):e262-8. PubMed ID: 12612282 [TBL] [Abstract][Full Text] [Related]
19. Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood. Sarzi E; Bourdon A; Chrétien D; Zarhrate M; Corcos J; Slama A; Cormier-Daire V; de Lonlay P; Munnich A; Rötig A J Pediatr; 2007 May; 150(5):531-4, 534.e1-6. PubMed ID: 17452231 [TBL] [Abstract][Full Text] [Related]
20. Respiratory chain deficiency in Alpers syndrome. Gauthier-Villars M; Landrieu P; Cormier-Daire V; Jacquemin E; Chrétien D; Rötig A; Rustin P; Munnich A; de Lonlay P Neuropediatrics; 2001 Jun; 32(3):150-2. PubMed ID: 11521212 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]