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Molecular diagnostics of mitochondrial disorders.
Rötig A, Lebon S, Zinovieva E, Mollet J, Sarzi E, Bonnefont JP, Munnich A. Rötig A, et al. Among authors: sarzi e. Biochim Biophys Acta. 2004 Dec 6;1659(2-3):129-35. doi: 10.1016/j.bbabio.2004.07.007. Biochim Biophys Acta. 2004. PMID: 15576044 Free article. Review.
1H MRS spectroscopy evidence of cerebellar high lactate in mitochondrial respiratory chain deficiency.
Boddaert N, Romano S, Funalot B, Rio M, Sarzi E, Lebre AS, Bahi-Buisson N, Valayannopoulos V, Desguerre I, Seidenwurm D, Brunelle F, Brami-Zylberberg F, Rötig A, Munnich A, de Lonlay P. Boddaert N, et al. Among authors: sarzi e. Mol Genet Metab. 2008 Jan;93(1):85-8. doi: 10.1016/j.ymgme.2007.09.003. Epub 2007 Oct 22. Mol Genet Metab. 2008. PMID: 17950645
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.
Spinazzola A, Viscomi C, Fernandez-Vizarra E, Carrara F, D'Adamo P, Calvo S, Marsano RM, Donnini C, Weiher H, Strisciuglio P, Parini R, Sarzi E, Chan A, DiMauro S, Rötig A, Gasparini P, Ferrero I, Mootha VK, Tiranti V, Zeviani M. Spinazzola A, et al. Among authors: sarzi e. Nat Genet. 2006 May;38(5):570-5. doi: 10.1038/ng1765. Epub 2006 Apr 2. Nat Genet. 2006. PMID: 16582910
OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution.
Elachouri G, Vidoni S, Zanna C, Pattyn A, Boukhaddaoui H, Gaget K, Yu-Wai-Man P, Gasparre G, Sarzi E, Delettre C, Olichon A, Loiseau D, Reynier P, Chinnery PF, Rotig A, Carelli V, Hamel CP, Rugolo M, Lenaers G. Elachouri G, et al. Among authors: sarzi e. Genome Res. 2011 Jan;21(1):12-20. doi: 10.1101/gr.108696.110. Epub 2010 Oct 25. Genome Res. 2011. PMID: 20974897 Free PMC article.
28 results