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TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy.
Hanein S, Perrault I, Roche O, Gerber S, Khadom N, Rio M, Boddaert N, Jean-Pierre M, Brahimi N, Serre V, Chretien D, Delphin N, Fares-Taie L, Lachheb S, Rotig A, Meire F, Munnich A, Dufier JL, Kaplan J, Rozet JM. Hanein S, et al. Among authors: chretien d. Am J Hum Genet. 2009 Apr;84(4):493-8. doi: 10.1016/j.ajhg.2009.03.003. Epub 2009 Mar 26. Am J Hum Genet. 2009. PMID: 19327736 Free PMC article.
Nuclear outsourcing of RNA interference components to human mitochondria.
Bandiera S, Rüberg S, Girard M, Cagnard N, Hanein S, Chrétien D, Munnich A, Lyonnet S, Henrion-Caude A. Bandiera S, et al. Among authors: chretien d. PLoS One. 2011;6(6):e20746. doi: 10.1371/journal.pone.0020746. Epub 2011 Jun 13. PLoS One. 2011. PMID: 21695135 Free PMC article.
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. Galmiche L, et al. Among authors: chretien d. Hum Mutat. 2011 Nov;32(11):1225-31. doi: 10.1002/humu.21562. Epub 2011 Sep 14. Hum Mutat. 2011. PMID: 21786366
Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency.
Serre V, Rozanska A, Beinat M, Chretien D, Boddaert N, Munnich A, Rötig A, Chrzanowska-Lightowlers ZM. Serre V, et al. Among authors: chretien d. Biochim Biophys Acta. 2013 Aug;1832(8):1304-12. doi: 10.1016/j.bbadis.2013.04.014. Epub 2013 Apr 18. Biochim Biophys Acta. 2013. PMID: 23603806 Free PMC article.
157 results