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Page 1
[Mitochondrial neurogastrointestinal encephalopathy disease].
Benureau A, Meyer P, Maillet O, Leboucq N, Legras S, Jeziorski E, Fournier-Favre S, Jeandel C, Gaignard P, Slama A, Rivier F, Roubertie A, Carneiro M. Benureau A, et al. Among authors: slama a. Arch Pediatr. 2014 Dec;21(12):1370-4. doi: 10.1016/j.arcped.2014.08.006. Epub 2014 Oct 2. Arch Pediatr. 2014. PMID: 25282463 French.
Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome.
Slama A, Lacroix C, Plante-Bordeneuve V, Lombès A, Conti M, Reimund JM, Auxenfants E, Crenn P, Laforêt P, Joannard A, Seguy D, Pillant H, Joly P, Haut S, Messing B, Said G, Legrand A, Guiochon-Mantel A. Slama A, et al. Mol Genet Metab. 2005 Apr;84(4):326-31. doi: 10.1016/j.ymgme.2004.12.004. Epub 2005 Jan 24. Mol Genet Metab. 2005. PMID: 15781193
[Mitochondrial neurogastrointestinal encephalomyopathy].
Rousset P, Elmaleh-Bergès M, Ogier de Baulny H, Viala J, Slama A, Sebag G. Rousset P, et al. Among authors: slama a. J Neuroradiol. 2008 May;35(2):121-4. doi: 10.1016/j.neurad.2007.07.003. Epub 2007 Sep 29. J Neuroradiol. 2008. PMID: 17904638 French.
Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients.
Lebigot E, Gaignard P, Dorboz I, Slama A, Rio M, de Lonlay P, Héron B, Sabourdy F, Boespflug-Tanguy O, Cardoso A, Habarou F, Ottolenghi C, Thérond P, Bouton C, Golinelli-Cohen MP, Boutron A. Lebigot E, et al. Among authors: slama a. Mol Genet Metab. 2017 Nov;122(3):85-94. doi: 10.1016/j.ymgme.2017.08.001. Epub 2017 Aug 3. Mol Genet Metab. 2017. PMID: 28803783
Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders.
Bris C, Goudenège D, Desquiret-Dumas V, Gueguen N, Bannwarth S, Gaignard P, Rucheton B, Trimouille A, Allouche S, Rouzier C, Saadi S, Jardel C, Slama A, Barth M, Verny C, Spinazzi M, Cassereau J, Colin E, Armelle M, Pereon Y, Martin-Negrier ML, Paquis-Flucklinger V, Letournel F, Lenaers G, Bonneau D, Reynier P, Amati-Bonneau P, Procaccio V. Bris C, et al. Among authors: slama a. Genet Med. 2021 Sep;23(9):1769-1778. doi: 10.1038/s41436-021-01206-w. Epub 2021 May 26. Genet Med. 2021. PMID: 34040194 Free article.
264 results