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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: reynier p. 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.
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
348 results