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Why mitochondria must fuse to maintain their genome integrity.
Vidoni S, Zanna C, Rugolo M, Sarzi E, Lenaers G. Vidoni S, et al. Among authors: lenaers g. Antioxid Redox Signal. 2013 Aug 1;19(4):379-88. doi: 10.1089/ars.2012.4800. Epub 2013 Mar 28. Antioxid Redox Signal. 2013. PMID: 23350575 Free PMC article. Review.
Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!
Roubertie A, Charif M, Meyer P, Manes G, Meunier I, Taieb G, Junta Morales R, Guichet A, Delettre C, Sarzi E, Leboucq N, Rivier F, Lenaers G. Roubertie A, et al. Among authors: lenaers g. Ann Clin Transl Neurol. 2019 Aug;6(8):1572-1577. doi: 10.1002/acn3.50860. Epub 2019 Jul 27. Ann Clin Transl Neurol. 2019. PMID: 31402626 Free PMC article.
Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy.
Piro-Mégy C, Sarzi E, Tarrés-Solé A, Péquignot M, Hensen F, Quilès M, Manes G, Chakraborty A, Sénéchal A, Bocquet B, Cazevieille C, Roubertie A, Müller A, Charif M, Goudenège D, Lenaers G, Wilhelm H, Kellner U, Weisschuh N, Wissinger B, Zanlonghi X, Hamel C, Spelbrink JN, Sola M, Delettre C. Piro-Mégy C, et al. Among authors: lenaers g. J Clin Invest. 2020 Jan 2;130(1):143-156. doi: 10.1172/JCI128513. J Clin Invest. 2020. PMID: 31550237 Free PMC article.
Targeted Metabolomics Reveals Early Dominant Optic Atrophy Signature in Optic Nerves of Opa1delTTAG/+ Mice.
Chao de la Barca JM, Simard G, Sarzi E, Chaumette T, Rousseau G, Chupin S, Gadras C, Tessier L, Ferré M, Chevrollier A, Desquiret-Dumas V, Gueguen N, Leruez S, Verny C, Miléa D, Bonneau D, Amati-Bonneau P, Procaccio V, Hamel C, Lenaers G, Reynier P, Prunier-Mirebeau D. Chao de la Barca JM, et al. Among authors: lenaers g. Invest Ophthalmol Vis Sci. 2017 Feb 1;58(2):812-820. doi: 10.1167/iovs.16-21116. Invest Ophthalmol Vis Sci. 2017. PMID: 28159969
204 results