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Page 1
Next-generation sequencing of Tunisian Leigh syndrome patients reveals novel variations: impact for diagnosis and treatment.
Hechmi M, Charif M, Kraoua I, Fassatoui M, Dallali H, Desquiret-Dumas V, Bris C, Goudenège D, Drissi C, Galaï S, Ouerhani S, Procaccio V, Amati-Bonneau P, Abdelhak S, Ben Youssef-Turki I, Lenaers G, Kefi R. Hechmi M, et al. Biosci Rep. 2022 Sep 30;42(9):BSR20220194. doi: 10.1042/BSR20220194. Biosci Rep. 2022. PMID: 36093993 Free PMC article.
Metabolically induced heteroplasmy shifting and l-arginine treatment reduce the energetic defect in a neuronal-like model of MELAS.
Desquiret-Dumas V, Gueguen N, Barth M, Chevrollier A, Hancock S, Wallace DC, Amati-Bonneau P, Henrion D, Bonneau D, Reynier P, Procaccio V. Desquiret-Dumas V, et al. Biochim Biophys Acta. 2012 Jun;1822(6):1019-29. doi: 10.1016/j.bbadis.2012.01.010. Epub 2012 Jan 28. Biochim Biophys Acta. 2012. PMID: 22306605 Free PMC article.
Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency.
Fragaki K, Ait-El-Mkadem S, Chaussenot A, Gire C, Mengual R, Bonesso L, Bénéteau M, Ricci JE, Desquiret-Dumas V, Procaccio V, Rötig A, Paquis-Flucklinger V. Fragaki K, et al. Eur J Hum Genet. 2013 May;21(5):528-34. doi: 10.1038/ejhg.2012.202. Epub 2012 Sep 19. Eur J Hum Genet. 2013. PMID: 22990144 Free PMC article.
Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders.
Bannwarth S, Procaccio V, Lebre AS, Jardel C, Chaussenot A, Hoarau C, Maoulida H, Charrier N, Gai X, Xie HM, Ferre M, Fragaki K, Hardy G, Mousson de Camaret B, Marlin S, Dhaenens CM, Slama A, Rocher C, Paul Bonnefont J, Rötig A, Aoutil N, Gilleron M, Desquiret-Dumas V, Reynier P, Ceresuela J, Jonard L, Devos A, Espil-Taris C, Martinez D, Gaignard P, Le Quan Sang KH, Amati-Bonneau P, Falk MJ, Florentz C, Chabrol B, Durand-Zaleski I, Paquis-Flucklinger V. Bannwarth S, et al. J Med Genet. 2013 Oct;50(10):704-14. doi: 10.1136/jmedgenet-2013-101604. Epub 2013 Jul 11. J Med Genet. 2013. PMID: 23847141 Free PMC article.
Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.
Bonneau D, Colin E, Oca F, Ferré M, Chevrollier A, Guéguen N, Desquiret-Dumas V, N'Guyen S, Barth M, Zanlonghi X, Rio M, Desguerre I, Barnerias C, Momtchilova M, Rodriguez D, Slama A, Lenaers G, Procaccio V, Amati-Bonneau P, Reynier P. Bonneau D, et al. Brain. 2014 Oct;137(Pt 10):e301. doi: 10.1093/brain/awu184. Epub 2014 Jul 10. Brain. 2014. PMID: 25012220 Free article. No abstract available.
Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency.
Leman G, Gueguen N, Desquiret-Dumas V, Kane MS, Wettervald C, Chupin S, Chevrollier A, Lebre AS, Bonnefont JP, Barth M, Amati-Bonneau P, Verny C, Henrion D, Bonneau D, Reynier P, Procaccio V. Leman G, et al. Int J Biochem Cell Biol. 2015 Aug;65:91-103. doi: 10.1016/j.biocel.2015.05.017. Epub 2015 May 27. Int J Biochem Cell Biol. 2015. PMID: 26024641
Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant.
Charif M, Titah SM, Roubertie A, Desquiret-Dumas V, Gueguen N, Meunier I, Leid J, Massal F, Zanlonghi X, Mercier J, Raynaud de Mauverger E, Procaccio V, Mousson de Camaret B, Lenaers G, Hamel CP. Charif M, et al. Am J Med Genet A. 2015 Oct;167A(10):2366-74. doi: 10.1002/ajmg.a.37188. Epub 2015 Jun 10. Am J Med Genet A. 2015. PMID: 26061759
OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology.
Chao de la Barca JM, Prunier-Mirebeau D, Amati-Bonneau P, Ferré M, Sarzi E, Bris C, Leruez S, Chevrollier A, Desquiret-Dumas V, Gueguen N, Verny C, Hamel C, Miléa D, Procaccio V, Bonneau D, Lenaers G, Reynier P. Chao de la Barca JM, et al. Neurobiol Dis. 2016 Jun;90:20-6. doi: 10.1016/j.nbd.2015.08.015. Epub 2015 Aug 23. Neurobiol Dis. 2016. PMID: 26311407
67 results