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Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy.
Charif M, Chevrollier A, Gueguen N, Bris C, Goudenège D, Desquiret-Dumas V, Leruez S, Colin E, Meunier A, Vignal C, Smirnov V, Defoort-Dhellemmes S, Drumare Bouvet I, Goizet C, Votruba M, Jurkute N, Yu-Wai-Man P, Tagliavini F, Caporali L, La Morgia C, Carelli V, Procaccio V, Zanlonghi X, Meunier I, Reynier P, Bonneau D, Amati-Bonneau P, Lenaers G. Charif M, et al. Among authors: bonneau d. Neurol Genet. 2020 May 20;6(3):e428. doi: 10.1212/NXG.0000000000000428. eCollection 2020 Jun. Neurol Genet. 2020. PMID: 32548275 Free PMC article.
W syndrome: report of three cases and review.
Goizet C, Bonneau D, Lacombe D. Goizet C, et al. Among authors: bonneau d. Am J Med Genet. 1999 Dec 22;87(5):446-9. Am J Med Genet. 1999. PMID: 10594887 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: bonneau d. 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. Among authors: bonneau d. 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.
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
Mitochondrial dynamics and disease, OPA1.
Olichon A, Guillou E, Delettre C, Landes T, Arnauné-Pelloquin L, Emorine LJ, Mils V, Daloyau M, Hamel C, Amati-Bonneau P, Bonneau D, Reynier P, Lenaers G, Belenguer P. Olichon A, et al. Among authors: bonneau d. Biochim Biophys Acta. 2006 May-Jun;1763(5-6):500-9. doi: 10.1016/j.bbamcr.2006.04.003. Epub 2006 Apr 20. Biochim Biophys Acta. 2006. PMID: 16737747 Free article. Review.
438 results