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Journal Abstract Search

197 related items for PubMed ID: 12754703

  • 1.
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  • 2. Mitochondrial targeting of human NADH dehydrogenase (ubiquinone) flavoprotein 2 (NDUFV2) and its association with early-onset hypertrophic cardiomyopathy and encephalopathy.
    Liu HY, Liao PC, Chuang KT, Kao MC.
    J Biomed Sci; 2011 May 06; 18(1):29. PubMed ID: 21548921
    [Abstract] [Full Text] [Related]

  • 3. A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.
    Odièvre MH, Chretien D, Munnich A, Robinson BH, Dumoulin R, Masmoudi S, Kadhom N, Rötig A, Rustin P, Bonnefont JP.
    Hum Mutat; 2005 Mar 06; 25(3):323-4. PubMed ID: 15712224
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  • 4. Impact of mutations affecting ND mitochondria-encoded subunits on the activity and assembly of complex I in Chlamydomonas. Implication for the structural organization of the enzyme.
    Cardol P, Matagne RF, Remacle C.
    J Mol Biol; 2002 Jun 21; 319(5):1211-21. PubMed ID: 12079358
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  • 6. 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 21; 63(3):405-8. PubMed ID: 18306244
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  • 7. Chromosomal localization of the human gene encoding the 51-kDa subunit of mitochondrial complex I (NDUFV1) to 11q13.
    Ali ST, Duncan AM, Schappert K, Heng HH, Tsui LC, Chow W, Robinson BH.
    Genomics; 1993 Nov 21; 18(2):435-9. PubMed ID: 8288251
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  • 9. Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene.
    Budde SM, van den Heuvel LP, Janssen AJ, Smeets RJ, Buskens CA, DeMeirleir L, Van Coster R, Baethmann M, Voit T, Trijbels JM, Smeitink JA.
    Biochem Biophys Res Commun; 2000 Aug 18; 275(1):63-8. PubMed ID: 10944442
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  • 11. Respiratory chain complex I deficiency.
    Triepels RH, Van Den Heuvel LP, Trijbels JM, Smeitink JA.
    Am J Med Genet; 2001 Aug 18; 106(1):37-45. PubMed ID: 11579423
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  • 12. Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish.
    Zahka K, Kalidas K, Simpson MA, Cross H, Keller BB, Galambos C, Gurtz K, Patton MA, Crosby AH.
    Heart; 2008 Oct 18; 94(10):1326-30. PubMed ID: 18467358
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  • 13. Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome.
    Bénit P, Slama A, Cartault F, Giurgea I, Chretien D, Lebon S, Marsac C, Munnich A, Rötig A, Rustin P.
    J Med Genet; 2004 Jan 18; 41(1):14-7. PubMed ID: 14729820
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  • 14. 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 18; 60(7):1007-9. PubMed ID: 12873860
    [Abstract] [Full Text] [Related]

  • 15. The human B22 subunit of the NADH-ubiquinone oxidoreductase maps to the region of chromosome 8 involved in branchio-oto-renal syndrome.
    Gu JZ, Lin X, Wells DE.
    Genomics; 1996 Jul 01; 35(1):6-10. PubMed ID: 8661098
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  • 17. When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.
    Bargal R, Zeigler M, Abu-Libdeh B, Zuri V, Mandel H, Ben Neriah Z, Stewart F, Elcioglu N, Hindi T, Le Merrer M, Bach G, Raas-Rothschild A.
    Mol Genet Metab; 2006 Aug 01; 88(4):359-63. PubMed ID: 16630736
    [Abstract] [Full Text] [Related]

  • 18. Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.
    Van Driest SL, Jaeger MA, Ommen SR, Will ML, Gersh BJ, Tajik AJ, Ackerman MJ.
    J Am Coll Cardiol; 2004 Aug 04; 44(3):602-10. PubMed ID: 15358028
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  • 20. 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 04; 32(11):1225-31. PubMed ID: 21786366
    [Abstract] [Full Text] [Related]

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