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443 results

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Page 1
Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.
Baris O, Delettre C, Amati-Bonneau P, Surget MO, Charlin JF, Catier A, Derieux L, Guyomard JL, Dollfus H, Jonveaux P, Ayuso C, Maumenee I, Lorenz B, Mohammed S, Tourmen Y, Bonneau D, Malthièry Y, Hamel C, Reynier P. Baris O, et al. Among authors: bonneau d. Hum Mutat. 2003 Jun;21(6):656. doi: 10.1002/humu.9152. Hum Mutat. 2003. PMID: 14961560
OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.
Amati-Bonneau P, Guichet A, Olichon A, Chevrollier A, Viala F, Miot S, Ayuso C, Odent S, Arrouet C, Verny C, Calmels MN, Simard G, Belenguer P, Wang J, Puel JL, Hamel C, Malthièry Y, Bonneau D, Lenaers G, Reynier P. Amati-Bonneau P, et al. Among authors: bonneau d. Ann Neurol. 2005 Dec;58(6):958-63. doi: 10.1002/ana.20681. Ann Neurol. 2005. PMID: 16240368
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: bonneau d. Ann Neurol. 2008 Jun;63(6):794-8. doi: 10.1002/ana.21385. Ann Neurol. 2008. PMID: 18496845 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: 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: 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.
Papilloedema and MRI enhancement of the prechiasmal optic nerve at the acute stage of Leber hereditary optic neuropathy.
Lamirel C, Cassereau J, Cochereau I, Vignal-Clermont C, Pajot O, Tanguy JY, Zanlonghi X, Reynier P, Amati-Bonneau P, Dubas F, Bonneau D, Verny C. Lamirel C, et al. Among authors: bonneau d. J Neurol Neurosurg Psychiatry. 2010 May;81(5):578-80. doi: 10.1136/jnnp.2009.174953. J Neurol Neurosurg Psychiatry. 2010. PMID: 20460595 Free article.
443 results