BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

226 related articles for article (PubMed ID: 14705112)

  • 1. De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.
    McFarland R; Kirby DM; Fowler KJ; Ohtake A; Ryan MT; Amor DJ; Fletcher JM; Dixon JW; Collins FA; Turnbull DM; Taylor RW; Thorburn DR
    Ann Neurol; 2004 Jan; 55(1):58-64. PubMed ID: 14705112
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Fulminant neurological deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 gene.
    Leshinsky-Silver E; Lev D; Tzofi-Berman Z; Cohen S; Saada A; Yanoov-Sharav M; Gilad E; Lerman-Sagie T
    Biochem Biophys Res Commun; 2005 Aug; 334(2):582-7. PubMed ID: 16023078
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy.
    Malfatti E; Bugiani M; Invernizzi F; de Souza CF; Farina L; Carrara F; Lamantea E; Antozzi C; Confalonieri P; Sanseverino MT; Giugliani R; Uziel G; Zeviani M
    Brain; 2007 Jul; 130(Pt 7):1894-904. PubMed ID: 17535832
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease.
    Kirby DM; Boneh A; Chow CW; Ohtake A; Ryan MT; Thyagarajan D; Thorburn DR
    Ann Neurol; 2003 Oct; 54(4):473-8. PubMed ID: 14520659
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia.
    Sarzi E; Brown MD; Lebon S; Chretien D; Munnich A; Rotig A; Procaccio V
    Am J Med Genet A; 2007 Jan; 143A(1):33-41. PubMed ID: 17152068
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency.
    Lebon S; Chol M; Benit P; Mugnier C; Chretien D; Giurgea I; Kern I; Girardin E; Hertz-Pannier L; de Lonlay P; Rötig A; Rustin P; Munnich A
    J Med Genet; 2003 Dec; 40(12):896-9. PubMed ID: 14684687
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Rolandic mitochondrial encephalomyelopathy and MT-ND3 mutations.
    Werner KG; Morel CF; Kirton A; Benseler SM; Shoffner JM; Addis JB; Robinson BH; Burrowes DM; Blaser SI; Epstein LG; Feigenbaum AS
    Pediatr Neurol; 2009 Jul; 41(1):27-33. PubMed ID: 19520270
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I.
    Danhelovska T; Kolarova H; Zeman J; Hansikova H; Vaneckova M; Lambert L; Kucerova-Vidrova V; Berankova K; Honzik T; Tesarova M
    BMC Pediatr; 2020 Jan; 20(1):41. PubMed ID: 31996177
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Progressive encephalopathy and complex I deficiency associated with mutations in MTND1.
    Moslemi AR; Darin N; Tulinius M; Wiklund LM; Holme E; Oldfors A
    Neuropediatrics; 2008 Feb; 39(1):24-8. PubMed ID: 18504678
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mutations in ND subunits of complex I are an important genetic cause of childhood mitochondrial encephalopathies.
    Lim BC; Park JD; Hwang H; Kim KJ; Hwang YS; Chae JH; Cheon JE; Kim IO; Lee R; Moon HK
    J Child Neurol; 2009 Jul; 24(7):828-32. PubMed ID: 19617458
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA-ND3.
    Leshinsky-Silver E; Lev D; Malinger G; Shapira D; Cohen S; Lerman-Sagie T; Saada A
    Mol Genet Metab; 2010 May; 100(1):65-70. PubMed ID: 20202874
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum.
    Grosso S; Carluccio MA; Cardaioli E; Cerase A; Malandrini A; Romano C; Federico A; Dotti MT
    Brain Dev; 2017 Mar; 39(3):261-265. PubMed ID: 27742419
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Analysis of mitochondrial DNA sequences in childhood encephalomyopathies reveals new disease-associated variants.
    Wani AA; Ahanger SH; Bapat SA; Rangrez AY; Hingankar N; Suresh CG; Barnabas S; Patole MS; Shouche YS
    PLoS One; 2007 Sep; 2(9):e942. PubMed ID: 17895983
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene.
    Keightley JA; Anitori R; Burton MD; Quan F; Buist NR; Kennaway NG
    Am J Hum Genet; 2000 Dec; 67(6):1400-10. PubMed ID: 11047755
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Analysis of the mitochondrial encoded subunits of complex I in 20 patients with a complex I deficiency.
    Meulemans A; Lissens W; Van Coster R; De Meirleir L; Smet J; Nassogne MC; Liebaers I; Seneca S
    Eur J Paediatr Neurol; 2004; 8(6):299-306. PubMed ID: 15542384
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules.
    Leslie N; Wang X; Peng Y; Valencia CA; Khuchua Z; Hata J; Witte D; Huang T; Bove KE
    Hum Pathol; 2016 Mar; 49():27-32. PubMed ID: 26826406
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene.
    Martín MA; Blázquez A; Gutierrez-Solana LG; Fernández-Moreira D; Briones P; Andreu AL; Garesse R; Campos Y; Arenas J
    Arch Neurol; 2005 Apr; 62(4):659-61. PubMed ID: 15824269
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality.
    Crimi M; Papadimitriou A; Galbiati S; Palamidou P; Fortunato F; Bordoni A; Papandreou U; Papadimitriou D; Hadjigeorgiou GM; Drogari E; Bresolin N; Comi GP
    Pediatr Res; 2004 May; 55(5):842-6. PubMed ID: 14764913
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mitochondrial DNA mutations in Leigh syndrome and their phylogenetic implications.
    Makino M; Horai S; Goto Y; Nonaka I
    J Hum Genet; 2000; 45(2):69-75. PubMed ID: 10721666
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.