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Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy.
Cartier N, Sarde CO, Douar AM, Mosser J, Mandel JL, Aubourg P. Cartier N, et al. Among authors: aubourg p. Hum Mol Genet. 1993 Nov;2(11):1949-51. doi: 10.1093/hmg/2.11.1949. Hum Mol Genet. 1993. PMID: 7904210
CYP4F2 affects phenotypic outcome in adrenoleukodystrophy by modulating the clearance of very long-chain fatty acids.
van Engen CE, Ofman R, Dijkstra IM, van Goethem TJ, Verheij E, Varin J, Vidaud M, Wanders RJ, Aubourg P, Kemp S, Barbier M. van Engen CE, et al. Among authors: aubourg p. Biochim Biophys Acta. 2016 Oct;1862(10):1861-70. doi: 10.1016/j.bbadis.2016.07.006. Epub 2016 Jul 15. Biochim Biophys Acta. 2016. PMID: 27425035
The rs2108622 polymorphism (c.1297G>A) results in an amino acid substitution valine for methionine at position 433 (p.V433M). ...Although p.V433M does not affect the catalytic activity of CYP4F2 it reduces CYP4F2 protein levels markedly. These findings open persp …
The rs2108622 polymorphism (c.1297G>A) results in an amino acid substitution valine for methionine at position 433 (p.V433M). ...A …
Intracerebral adeno-associated virus-mediated gene transfer in rapidly progressive forms of metachromatic leukodystrophy.
Sevin C, Benraiss A, Van Dam D, Bonnin D, Nagels G, Verot L, Laurendeau I, Vidaud M, Gieselmann V, Vanier M, De Deyn PP, Aubourg P, Cartier N. Sevin C, et al. Among authors: aubourg p. Hum Mol Genet. 2006 Jan 1;15(1):53-64. doi: 10.1093/hmg/ddi425. Epub 2005 Nov 25. Hum Mol Genet. 2006. PMID: 16311251
Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy.
Asheuer M, Bieche I, Laurendeau I, Moser A, Hainque B, Vidaud M, Aubourg P. Asheuer M, et al. Among authors: aubourg p. Hum Mol Genet. 2005 May 15;14(10):1293-303. doi: 10.1093/hmg/ddi140. Epub 2005 Mar 30. Hum Mol Genet. 2005. PMID: 15800013
Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1.
Sabbagh A, Pasmant E, Laurendeau I, Parfait B, Barbarot S, Guillot B, Combemale P, Ferkal S, Vidaud M, Aubourg P, Vidaud D, Wolkenstein P; members of the NF France Network. Sabbagh A, et al. Among authors: aubourg p. Hum Mol Genet. 2009 Aug 1;18(15):2768-78. doi: 10.1093/hmg/ddp212. Epub 2009 May 5. Hum Mol Genet. 2009. PMID: 19417008 Free PMC article.
Efficient intracerebral delivery of AAV5 vector encoding human ARSA in non-human primate.
Colle MA, Piguet F, Bertrand L, Raoul S, Bieche I, Dubreil L, Sloothaak D, Bouquet C, Moullier P, Aubourg P, Cherel Y, Cartier N, Sevin C. Colle MA, et al. Among authors: aubourg p. Hum Mol Genet. 2010 Jan 1;19(1):147-58. doi: 10.1093/hmg/ddp475. Hum Mol Genet. 2010. PMID: 19837699
Adrenoleukodystrophy: the most frequent genetic cause of Addison's disease.
Aubourg P, Chaussain JL. Aubourg P, et al. Horm Res. 2003;59 Suppl 1:104-5. doi: 10.1159/000067833. Horm Res. 2003. PMID: 12638520 No abstract available.
Transduced CD34+ cells from adrenoleukodystrophy patients with HIV-derived vector mediate long-term engraftment of NOD/SCID mice.
Benhamida S, Pflumio F, Dubart-Kupperschmitt A, Zhao-Emonet JC, Cavazzana-Calvo M, Rocchiccioli F, Fichelson S, Aubourg P, Charneau P, Cartier N. Benhamida S, et al. Among authors: aubourg p. Mol Ther. 2003 Mar;7(3):317-24. doi: 10.1016/s1525-0016(03)00002-9. Mol Ther. 2003. PMID: 12668127
T-cell receptor Vbeta gene usage in CSF lymphocytes in X-linked adrenoleukodystrophy.
Picard F, Guidoux S, Martin T, Aubourg P, Pasquali JL. Picard F, et al. Among authors: aubourg p. J Mol Recognit. 2005 May-Jun;18(3):254-61. doi: 10.1002/jmr.727. J Mol Recognit. 2005. PMID: 15558591
Hematopoietic stem cell gene therapy in Hurler syndrome, globoid cell leukodystrophy, metachromatic leukodystrophy and X-adrenoleukodystrophy.
Cartier N, Aubourg P. Cartier N, et al. Among authors: aubourg p. Curr Opin Mol Ther. 2008 Oct;10(5):471-8. Curr Opin Mol Ther. 2008. PMID: 18830923 Review.
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