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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. 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. 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. 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. 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.
Multiple OXPHOS deficiency in the liver, kidney, heart, and skeletal muscle of patients with methylmalonic aciduria and propionic aciduria.
de Keyzer Y, Valayannopoulos V, Benoist JF, Batteux F, Lacaille F, Hubert L, Chrétien D, Chadefeaux-Vekemans B, Niaudet P, Touati G, Munnich A, de Lonlay P. de Keyzer Y, et al. Pediatr Res. 2009 Jul;66(1):91-5. doi: 10.1203/PDR.0b013e3181a7c270. Pediatr Res. 2009. PMID: 19342984
Mitochondrial respiratory chain complex assembly and function during human fetal development.
Minai L, Martinovic J, Chretien D, Dumez F, Razavi F, Munnich A, Rötig A. Minai L, et al. Mol Genet Metab. 2008 May;94(1):120-6. doi: 10.1016/j.ymgme.2007.12.007. Epub 2008 Jan 30. Mol Genet Metab. 2008. PMID: 18249146
A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome.
Lebon S, Minai L, Chretien D, Corcos J, Serre V, Kadhom N, Steffann J, Pauchard JY, Munnich A, Bonnefont JP, Rötig A. Lebon S, et al. Mol Genet Metab. 2007 Sep-Oct;92(1-2):104-8. doi: 10.1016/j.ymgme.2007.05.010. Epub 2007 Jun 28. Mol Genet Metab. 2007. PMID: 17604671
Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion.
Bourdon A, Minai L, Serre V, Jais JP, Sarzi E, Aubert S, Chrétien D, de Lonlay P, Paquis-Flucklinger V, Arakawa H, Nakamura Y, Munnich A, Rötig A. Bourdon A, et al. Nat Genet. 2007 Jun;39(6):776-80. doi: 10.1038/ng2040. Epub 2007 May 7. Nat Genet. 2007. PMID: 17486094
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