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eOPA1: an online database for OPA1 mutations.
Ferré M, Amati-Bonneau P, Tourmen Y, Malthièry Y, Reynier P. Ferré M, et al. Hum Mutat. 2005 May;25(5):423-8. doi: 10.1002/humu.20161. Hum Mutat. 2005. PMID: 15832306
Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A disease.
Loiseau D, Chevrollier A, Verny C, Guillet V, Gueguen N, Pou de Crescenzo MA, Ferré M, Malinge MC, Guichet A, Nicolas G, Amati-Bonneau P, Malthièry Y, Bonneau D, Reynier P. Loiseau D, et al. Ann Neurol. 2007 Apr;61(4):315-23. doi: 10.1002/ana.21086. Ann Neurol. 2007. PMID: 17444508
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes.
Amati-Bonneau P, Valentino ML, Reynier P, Gallardo ME, Bornstein B, Boissière A, Campos Y, Rivera H, de la Aleja JG, Carroccia R, Iommarini L, Labauge P, Figarella-Branger D, Marcorelles P, Furby A, Beauvais K, Letournel F, Liguori R, La Morgia C, Montagna P, Liguori M, Zanna C, Rugolo M, Cossarizza A, Wissinger B, Verny C, Schwarzenbacher R, Martín MA, Arenas J, Ayuso C, Garesse R, Lenaers G, Bonneau D, Carelli V. Amati-Bonneau P, et al. Brain. 2008 Feb;131(Pt 2):338-51. doi: 10.1093/brain/awm298. Epub 2007 Dec 24. Brain. 2008. PMID: 18158317 Free article.
Multiple sclerosis-like disorder in OPA1-related autosomal dominant optic atrophy.
Verny C, Loiseau D, Scherer C, Lejeune P, Chevrollier A, Gueguen N, Guillet V, Dubas F, Reynier P, Amati-Bonneau P, Bonneau D. Verny C, et al. Neurology. 2008 Mar 25;70(13 Pt 2):1152-3. doi: 10.1212/01.wnl.0000289194.89359.a1. Epub 2008 Feb 20. Neurology. 2008. PMID: 18287570 Free article. No abstract available.
Reversible optic neuropathy with OPA1 exon 5b mutation.
Cornille K, Milea D, Amati-Bonneau P, Procaccio V, Zazoun L, Guillet V, El Achouri G, Delettre C, Gueguen N, Loiseau D, Muller A, Ferré M, Chevrollier A, Wallace DC, Bonneau D, Hamel C, Reynier P, Lenaers G. Cornille K, et al. Ann Neurol. 2008 May;63(5):667-71. doi: 10.1002/ana.21376. Ann Neurol. 2008. PMID: 18360822 Free article.
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. Ann Neurol. 2008 Jun;63(6):794-8. doi: 10.1002/ana.21385. Ann Neurol. 2008. PMID: 18496845 Free article.
113 results