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.
138 related articles for article (PubMed ID: 21741925)
1. Mutation in the mitochondrial translation elongation factor EFTs results in severe infantile liver failure. Vedrenne V; Galmiche L; Chretien D; de Lonlay P; Munnich A; Rötig A J Hepatol; 2012 Jan; 56(1):294-7. PubMed ID: 21741925 [TBL] [Abstract][Full Text] [Related]
2. Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs. Smeitink JA; Elpeleg O; Antonicka H; Diepstra H; Saada A; Smits P; Sasarman F; Vriend G; Jacob-Hirsch J; Shaag A; Rechavi G; Welling B; Horst J; Rodenburg RJ; van den Heuvel B; Shoubridge EA Am J Hum Genet; 2006 Nov; 79(5):869-77. PubMed ID: 17033963 [TBL] [Abstract][Full Text] [Related]
3. Identification of a mutation in LARS as a novel cause of infantile hepatopathy. Casey JP; McGettigan P; Lynam-Lennon N; McDermott M; Regan R; Conroy J; Bourke B; O'Sullivan J; Crushell E; Lynch S; Ennis S Mol Genet Metab; 2012 Jul; 106(3):351-8. PubMed ID: 22607940 [TBL] [Abstract][Full Text] [Related]
6. Toward genotype phenotype correlations in GFM1 mutations. Galmiche L; Serre V; Beinat M; Zossou R; Assouline Z; Lebre AS; Chretien F; Shenhav R; Zeharia A; Saada A; Vedrenne V; Boddaert N; de Lonlay P; Rio M; Munnich A; Rötig A Mitochondrion; 2012 Mar; 12(2):242-7. PubMed ID: 21986555 [TBL] [Abstract][Full Text] [Related]
7. Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy. Galmiche L; Serre V; Beinat M; Assouline Z; Lebre AS; Chretien D; Nietschke P; Benes V; Boddaert N; Sidi D; Brunelle F; Rio M; Munnich A; Rötig A Hum Mutat; 2011 Nov; 32(11):1225-31. PubMed ID: 21786366 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency. Coenen MJ; Antonicka H; Ugalde C; Sasarman F; Rossi R; Heister JG; Newbold RF; Trijbels FJ; van den Heuvel LP; Shoubridge EA; Smeitink JA N Engl J Med; 2004 Nov; 351(20):2080-6. PubMed ID: 15537906 [TBL] [Abstract][Full Text] [Related]
10. Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation. Berger I; Hershkovitz E; Shaag A; Edvardson S; Saada A; Elpeleg O Ann Neurol; 2008 Mar; 63(3):405-8. PubMed ID: 18306244 [TBL] [Abstract][Full Text] [Related]
11. The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1. Antonicka H; Sasarman F; Kennaway NG; Shoubridge EA Hum Mol Genet; 2006 Jun; 15(11):1835-46. PubMed ID: 16632485 [TBL] [Abstract][Full Text] [Related]
12. Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene. Gerards M; van den Bosch BJ; Danhauser K; Serre V; van Weeghel M; Wanders RJ; Nicolaes GA; Sluiter W; Schoonderwoerd K; Scholte HR; Prokisch H; Rötig A; de Coo IF; Smeets HJ Brain; 2011 Jan; 134(Pt 1):210-9. PubMed ID: 20929961 [TBL] [Abstract][Full Text] [Related]
13. Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch. Rivera H; Merinero B; Martinez-Pardo M; Arroyo I; Ruiz-Sala P; Bornstein B; Serra-Suhe C; Gallardo E; Marti R; Moran MJ; Ugalde C; Perez-Jurado LA; Andreu AL; Garesse R; Ugarte M; Arenas J; Martin MA Mitochondrion; 2010 Jun; 10(4):362-8. PubMed ID: 20227526 [TBL] [Abstract][Full Text] [Related]
14. A novel homozygous TMEM70 mutation results in congenital cataract and neonatal mitochondrial encephalo-cardiomyopathy. Atay Z; Bereket A; Turan S; Haliloglu B; Memisoglu A; Khayat M; Shalev SA; Spiegel R Gene; 2013 Feb; 515(1):197-9. PubMed ID: 23235116 [TBL] [Abstract][Full Text] [Related]
15. A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion. Kollberg G; Darin N; Benan K; Moslemi AR; Lindal S; Tulinius M; Oldfors A; Holme E Neuromuscul Disord; 2009 Feb; 19(2):147-50. PubMed ID: 19138848 [TBL] [Abstract][Full Text] [Related]
16. 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]
17. Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy. Ahola S; Isohanni P; Euro L; Brilhante V; Palotie A; Pihko H; Lönnqvist T; Lehtonen T; Laine J; Tyynismaa H; Suomalainen A Neurology; 2014 Aug; 83(8):743-51. PubMed ID: 25037205 [TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. 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] [Next] [New Search]