110 related articles for article (PubMed ID: 12013907)
1. [Complex I deficiency due to NDUFS8 gene mutation].
Ito M
Nihon Rinsho; 2002 Apr; 60 Suppl 4():441-3. PubMed ID: 12013907
[No Abstract] [Full Text] [Related]
2. [Complex I deficiency due to mutations in nuclear-encoded subunit genes].
Komaki H; Goto Y
Nihon Rinsho; 2002 Apr; 60 Suppl 4():371-5. PubMed ID: 12013889
[No Abstract] [Full Text] [Related]
3. [Complex I (NADH-ubiquinone oxidoreductase) deficiency].
Nonaka I
Ryoikibetsu Shokogun Shirizu; 2001; (36):129-31. PubMed ID: 11596342
[No Abstract] [Full Text] [Related]
4. Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations.
Procaccio V; Wallace DC
Neurology; 2004 May; 62(10):1899-901. PubMed ID: 15159508
[TBL] [Abstract][Full Text] [Related]
5. [Complex II deficiency due to Fp gene mutation].
Ito M
Nihon Rinsho; 2002 Apr; 60 Suppl 4():444-5. PubMed ID: 12013908
[No Abstract] [Full Text] [Related]
6. The first nuclear-encoded complex I mutation in a patient with Leigh syndrome.
Loeffen J; Smeitink J; Triepels R; Smeets R; Schuelke M; Sengers R; Trijbels F; Hamel B; Mullaart R; van den Heuvel L
Am J Hum Genet; 1998 Dec; 63(6):1598-608. PubMed ID: 9837812
[TBL] [Abstract][Full Text] [Related]
7. The X-chromosomal NDUFA1 gene of complex I in mitochondrial encephalomyopathies: tissue expression and mutation detection.
Loeffen J; Smeets R; Smeitink J; Ruitenbeek W; Janssen A; Mariman E; Sengers R; Trijbels F; van den Heuvel L
J Inherit Metab Dis; 1998 Jun; 21(3):210-5. PubMed ID: 9686359
[No Abstract] [Full Text] [Related]
8. Genomic structure of the human NDUFS8 gene coding for the iron-sulfur TYKY subunit of the mitochondrial NADH:ubiquinone oxidoreductase.
de Sury R; Martinez P; Procaccio V; Lunardi J; Issartel JP
Gene; 1998 Jul; 215(1):1-10. PubMed ID: 9666055
[TBL] [Abstract][Full Text] [Related]
9. [Electron transfer complex I deficiency].
Goto Y
Ryoikibetsu Shokogun Shirizu; 1998; (19 Pt 2):488-90. PubMed ID: 9645116
[No Abstract] [Full Text] [Related]
10. [Leigh encephalopathy (subacute necrotizing encephalomyelopathy)].
Sakuta R
Ryoikibetsu Shokogun Shirizu; 2001; (36):178-80. PubMed ID: 11596363
[No Abstract] [Full Text] [Related]
11. Clinical and molecular findings in children with complex I deficiency.
Bugiani M; Invernizzi F; Alberio S; Briem E; Lamantea E; Carrara F; Moroni I; Farina L; Spada M; Donati MA; Uziel G; Zeviani M
Biochim Biophys Acta; 2004 Dec; 1659(2-3):136-47. PubMed ID: 15576045
[TBL] [Abstract][Full Text] [Related]
12. Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.
Triepels RH; van den Heuvel LP; Loeffen JL; Buskens CA; Smeets RJ; Rubio Gozalbo ME; Budde SM; Mariman EC; Wijburg FA; Barth PG; Trijbels JM; Smeitink JA
Ann Neurol; 1999 Jun; 45(6):787-90. PubMed ID: 10360771
[TBL] [Abstract][Full Text] [Related]
13. Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome.
Bénit P; Steffann J; Lebon S; Chretien D; Kadhom N; de Lonlay P; Goldenberg A; Dumez Y; Dommergues M; Rustin P; Munnich A; Rötig A
Hum Genet; 2003 May; 112(5-6):563-6. PubMed ID: 12616398
[TBL] [Abstract][Full Text] [Related]
14. Sequence analysis of nuclear genes encoding functionally important complex I subunits in children with encephalomyopathy.
Hinttala R; Uusimaa J; Remes AM; Rantala H; Hassinen IE; Majamaa K
J Mol Med (Berl); 2005 Oct; 83(10):786-94. PubMed ID: 16142472
[TBL] [Abstract][Full Text] [Related]
15. Mutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variants.
Petruzzella V; Panelli D; Torraco A; Stella A; Papa S
FEBS Lett; 2005 Jul; 579(17):3770-6. PubMed ID: 15975579
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. [Leigh disease in an infant with deficiency of complex I of the mitochondrial respiratory chain].
Verdú Pérez A; Boyer Mora L; Garde Morales T; Orradre Romeo JL; Alonso Martín JA
An Esp Pediatr; 1996 Sep; 45(3):305-8. PubMed ID: 9019978
[No Abstract] [Full Text] [Related]
18. Emerging Roles of NDUFS8 Located in Mitochondrial Complex I in Different Diseases.
Wang S; Kang Y; Wang R; Deng J; Yu Y; Yu J; Wang J
Molecules; 2022 Dec; 27(24):. PubMed ID: 36557887
[TBL] [Abstract][Full Text] [Related]
19. Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families.
Kirby DM; Kahler SG; Freckmann ML; Reddihough D; Thorburn DR
Ann Neurol; 2000 Jul; 48(1):102-4. PubMed ID: 10894222
[TBL] [Abstract][Full Text] [Related]
20. Mutation in the NDUFS4 gene of complex I abolishes cAMP-dependent activation of the complex in a child with fatal neurological syndrome.
Papa S; Scacco S; Sardanelli AM; Vergari R; Papa F; Budde S; van den Heuvel L; Smeitink J
FEBS Lett; 2001 Feb; 489(2-3):259-62. PubMed ID: 11165261
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]