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Journal Abstract Search
119 related items for PubMed ID: 12013889
1. [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]
2. [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]
3. The nuclear-encoded human NADH:ubiquinone oxidoreductase NDUFA8 subunit: cDNA cloning, chromosomal localization, tissue distribution, and mutation detection in complex-I-deficient patients. Triepels R, van den Heuvel L, Loeffen J, Smeets R, Trijbels F, Smeitink J. Hum Genet; 1998 Nov; 103(5):557-63. PubMed ID: 9860297 [Abstract] [Full Text] [Related]
4. 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]
5. 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 17; 215(1):1-10. PubMed ID: 9666055 [Abstract] [Full Text] [Related]
6. Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenase. Chomyn A, Mariottini P, Cleeter MW, Ragan CI, Matsuno-Yagi A, Hatefi Y, Doolittle RF, Attardi G. Nature; 1998 Jul 17; 314(6012):592-7. PubMed ID: 3921850 [Abstract] [Full Text] [Related]
8. Respiratory chain complex I deficiency. Triepels RH, Van Den Heuvel LP, Trijbels JM, Smeitink JA. Am J Med Genet; 2001 Jul 17; 106(1):37-45. PubMed ID: 11579423 [Abstract] [Full Text] [Related]
9. Mutations in human nuclear genes encoding for subunits of mitochondrial respiratory complex I: the NDUFS4 gene. Petruzzella V, Papa S. Gene; 2002 Mar 06; 286(1):149-54. PubMed ID: 11943471 [Abstract] [Full Text] [Related]
11. New nuclear encoded mitochondrial mutation illustrates pitfalls in prenatal diagnosis by biochemical methods. Schuelke M, Detjen A, van den Heuvel L, Korenke C, Janssen A, Smits A, Trijbels F, Smeitink J. Clin Chem; 2002 May 06; 48(5):772-5. PubMed ID: 11978607 [No Abstract] [Full Text] [Related]
12. Analysis of the pathogenic human mitochondrial mutation ND1/3460, and mutations of strictly conserved residues in its vicinity, using the bacterium Paracoccus denitrificans. Zickermann V, Barquera B, Wikström M, Finel M. Biochemistry; 1998 Aug 25; 37(34):11792-6. PubMed ID: 9718301 [Abstract] [Full Text] [Related]
13. Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. Bénit P, Chretien D, Kadhom N, de Lonlay-Debeney P, Cormier-Daire V, Cabral A, Peudenier S, Rustin P, Munnich A, Rötig A. Am J Hum Genet; 2001 Jun 25; 68(6):1344-52. PubMed ID: 11349233 [Abstract] [Full Text] [Related]
14. Phenotypic expression of mtDNA heteroplasmy in the skeletal muscle of patients with oculomyopathy: defect in mitochondrial protein synthesis. Sudoyo H, Marzuki S, Byrne E, Mastaglia F. J Neurol Sci; 1993 Jul 25; 117(1-2):83-91. PubMed ID: 8410073 [Abstract] [Full Text] [Related]