265 related articles for article (PubMed ID: 17452231)
1. 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]
2. 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]
3. Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations.
Freisinger P; Fütterer N; Lankes E; Gempel K; Berger TM; Spalinger J; Hoerbe A; Schwantes C; Lindner M; Santer R; Burdelski M; Schaefer H; Setzer B; Walker UA; Horváth R
Arch Neurol; 2006 Aug; 63(8):1129-34. PubMed ID: 16908739
[TBL] [Abstract][Full Text] [Related]
4. Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene.
Mancuso M; Filosto M; Bonilla E; Hirano M; Shanske S; Vu TH; DiMauro S
Arch Neurol; 2003 Jul; 60(7):1007-9. PubMed ID: 12873860
[TBL] [Abstract][Full Text] [Related]
5. Quantitative evaluation of the mitochondrial DNA depletion syndrome.
Dimmock D; Tang LY; Schmitt ES; Wong LJ
Clin Chem; 2010 Jul; 56(7):1119-27. PubMed ID: 20448188
[TBL] [Abstract][Full Text] [Related]
6. Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome.
Götz A; Isohanni P; Pihko H; Paetau A; Herva R; Saarenpää-Heikkilä O; Valanne L; Marjavaara S; Suomalainen A
Brain; 2008 Nov; 131(Pt 11):2841-50. PubMed ID: 18819985
[TBL] [Abstract][Full Text] [Related]
7. Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes.
Mancuso M; Filosto M; Tsujino S; Lamperti C; Shanske S; Coquet M; Desnuelle C; DiMauro S
Arch Neurol; 2003 Oct; 60(10):1445-7. PubMed ID: 14568816
[TBL] [Abstract][Full Text] [Related]
8. POLG1 mutations associated with progressive encephalopathy in childhood.
Kollberg G; Moslemi AR; Darin N; Nennesmo I; Bjarnadottir I; Uvebrant P; Holme E; Melberg A; Tulinius M; Oldfors A
J Neuropathol Exp Neurol; 2006 Aug; 65(8):758-68. PubMed ID: 16896309
[TBL] [Abstract][Full Text] [Related]
9. Depletion of the other genome-mitochondrial DNA depletion syndromes in humans.
Elpeleg O; Mandel H; Saada A
J Mol Med (Berl); 2002 Jul; 80(7):389-96. PubMed ID: 12110944
[TBL] [Abstract][Full Text] [Related]
10. Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene.
Oskoui M; Davidzon G; Pascual J; Erazo R; Gurgel-Giannetti J; Krishna S; Bonilla E; De Vivo DC; Shanske S; DiMauro S
Arch Neurol; 2006 Aug; 63(8):1122-6. PubMed ID: 16908738
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Two novel POLG mutations causing hepatic mitochondrial DNA depletion with recurrent hypoketotic hypoglycaemia and fatal liver dysfunction.
Bortot B; Barbi E; Biffi S; Lunazzi G; Bussani R; Burlina A; Norbedo S; Ventura A; Carrozzi M; Severini GM
Dig Liver Dis; 2009 Jul; 41(7):494-9. PubMed ID: 19195941
[TBL] [Abstract][Full Text] [Related]
13. Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement.
Slama A; Giurgea I; Debrey D; Bridoux D; de Lonlay P; Levy P; Chretien D; Brivet M; Legrand A; Rustin P; Munnich A; Rötig A
Mol Genet Metab; 2005 Dec; 86(4):462-5. PubMed ID: 16263314
[TBL] [Abstract][Full Text] [Related]
14. Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion.
Bourdon A; Minai L; Serre V; Jais JP; Sarzi E; Aubert S; Chrétien D; de Lonlay P; Paquis-Flucklinger V; Arakawa H; Nakamura Y; Munnich A; Rötig A
Nat Genet; 2007 Jun; 39(6):776-80. PubMed ID: 17486094
[TBL] [Abstract][Full Text] [Related]
15. Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency.
Labarthe F; Dobbelaere D; Devisme L; De Muret A; Jardel C; Taanman JW; Gottrand F; Lombès A
J Hepatol; 2005 Aug; 43(2):333-41. PubMed ID: 15964659
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: a case report.
Montero R; Sánchez-Alcázar JA; Briones P; Navarro-Sastre A; Gallardo E; Bornstein B; Herrero-Martín D; Rivera H; Martin MA; Marti R; García-Cazorla A; Montoya J; Navas P; Artuch R
Clin Biochem; 2009 May; 42(7-8):742-5. PubMed ID: 19094978
[TBL] [Abstract][Full Text] [Related]
18. Molecular diagnosis of Alpers syndrome.
Nguyen KV; Sharief FS; Chan SS; Copeland WC; Naviaux RK
J Hepatol; 2006 Jul; 45(1):108-16. PubMed ID: 16545482
[TBL] [Abstract][Full Text] [Related]
19. Autosomal disorders of mitochondrial DNA maintenance.
Van Goethem G
Acta Neurol Belg; 2006 Jun; 106(2):66-72. PubMed ID: 16898256
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
