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Dominant ACO2 mutations are a frequent cause of isolated optic atrophy.
Charif M, Gueguen N, Ferré M, Elkarhat Z, Khiati S, LeMao M, Chevrollier A, Desquiret-Dumas V, Goudenège D, Bris C, Kane S, Alban J, Chupin S, Wetterwald C, Caporali L, Tagliavini F, LaMorgia C, Carbonelli M, Jurkute N, Barakat A, Gohier P, Verny C, Barth M, Procaccio V, Bonneau D, Zanlonghi X, Meunier I, Weisschuh N, Schimpf-Linzenbold S, Tonagel F, Kellner U, Yu-Wai-Man P, Carelli V, Wissinger B, Amati-Bonneau P, Reynier P; European ION Group; Lenaers G. Charif M, et al. Among authors: reynier p. Brain Commun. 2021 Apr 7;3(2):fcab063. doi: 10.1093/braincomms/fcab063. eCollection 2021. Brain Commun. 2021. PMID: 34056600 Free PMC article.
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: reynier p. Hum Mutat. 2003 Jun;21(6):656. doi: 10.1002/humu.9152. Hum Mutat. 2003. PMID: 14961560
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract.
Reynier P, Amati-Bonneau P, Verny C, Olichon A, Simard G, Guichet A, Bonnemains C, Malecaze F, Malinge MC, Pelletier JB, Calvas P, Dollfus H, Belenguer P, Malthièry Y, Lenaers G, Bonneau D. Reynier P, et al. J Med Genet. 2004 Sep;41(9):e110. doi: 10.1136/jmg.2003.016576. J Med Genet. 2004. PMID: 15342707 Free PMC article. No abstract available.
eOPA1: an online database for OPA1 mutations.
Ferré M, Amati-Bonneau P, Tourmen Y, Malthièry Y, Reynier P. Ferré M, et al. Among authors: reynier p. Hum Mutat. 2005 May;25(5):423-8. doi: 10.1002/humu.20161. Hum Mutat. 2005. PMID: 15832306
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: reynier p. Ann Neurol. 2005 Dec;58(6):958-63. doi: 10.1002/ana.20681. Ann Neurol. 2005. PMID: 16240368
342 results