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Hereditary optic neuropathies share a common mitochondrial coupling defect.
Chevrollier A, Guillet V, Loiseau D, Gueguen N, de Crescenzo MA, Verny C, Ferre M, Dollfus H, Odent S, Milea D, Goizet C, Amati-Bonneau P, Procaccio V, Bonneau D, Reynier P. Chevrollier A, et al. Among authors: amati bonneau p, bonneau d. Ann Neurol. 2008 Jun;63(6):794-8. doi: 10.1002/ana.21385. Ann Neurol. 2008. PMID: 18496845 Free article.
Mitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis.
Verny C, Amati-Bonneau P, Letournel F, Person B, Dib N, Malinge MC, Slama A, Le Maréchal C, Ferec C, Procaccio V, Reynier P, Bonneau D. Verny C, et al. Among authors: amati bonneau p, bonneau d. Diabetes Metab. 2008 Dec;34(6 Pt 1):620-6. doi: 10.1016/j.diabet.2008.06.001. Epub 2008 Oct 26. Diabetes Metab. 2008. PMID: 18955007
Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K).
Cassereau J, Chevrollier A, Gueguen N, Malinge MC, Letournel F, Nicolas G, Richard L, Ferre M, Verny C, Dubas F, Procaccio V, Amati-Bonneau P, Bonneau D, Reynier P. Cassereau J, et al. Among authors: amati bonneau p, bonneau d. Neurogenetics. 2009 Apr;10(2):145-50. doi: 10.1007/s10048-008-0166-9. Epub 2008 Dec 17. Neurogenetics. 2009. PMID: 19089472
Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.
Ferré M, Bonneau D, Milea D, Chevrollier A, Verny C, Dollfus H, Ayuso C, Defoort S, Vignal C, Zanlonghi X, Charlin JF, Kaplan J, Odent S, Hamel CP, Procaccio V, Reynier P, Amati-Bonneau P. Ferré M, et al. Among authors: amati bonneau p, bonneau d. Hum Mutat. 2009 Jul;30(7):E692-705. doi: 10.1002/humu.21025. Hum Mutat. 2009. PMID: 19319978 Free article.
OPA1-associated disorders: phenotypes and pathophysiology.
Amati-Bonneau P, Milea D, Bonneau D, Chevrollier A, Ferré M, Guillet V, Gueguen N, Loiseau D, de Crescenzo MA, Verny C, Procaccio V, Lenaers G, Reynier P. Amati-Bonneau P, et al. Among authors: bonneau d. Int J Biochem Cell Biol. 2009 Oct;41(10):1855-65. doi: 10.1016/j.biocel.2009.04.012. Epub 2009 Apr 21. Int J Biochem Cell Biol. 2009. PMID: 19389487 Free article. Review.
Ethambutol-induced optic neuropathy linked to OPA1 mutation and mitochondrial toxicity.
Guillet V, Chevrollier A, Cassereau J, Letournel F, Gueguen N, Richard L, Desquiret V, Verny C, Procaccio V, Amati-Bonneau P, Reynier P, Bonneau D. Guillet V, et al. Among authors: amati bonneau p, bonneau d. Mitochondrion. 2010 Mar;10(2):115-24. doi: 10.1016/j.mito.2009.11.004. Epub 2009 Nov 10. Mitochondrion. 2010. PMID: 19900585 Free article.
Genetically determined optic neuropathies.
Milea D, Amati-Bonneau P, Reynier P, Bonneau D. Milea D, et al. Among authors: amati bonneau p, bonneau d. Curr Opin Neurol. 2010 Feb;23(1):24-8. doi: 10.1097/WCO.0b013e3283347b27. Curr Opin Neurol. 2010. PMID: 19915464 Free article. Review.
113 results