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206 results

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Page 1
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.
Colin E, Daniel J, Ziegler A, Wakim J, Scrivo A, Haack TB, Khiati S, Denommé AS, Amati-Bonneau P, Charif M, Procaccio V, Reynier P, Aleck KA, Botto LD, Herper CL, Kaiser CS, Nabbout R, N'Guyen S, Mora-Lorca JA, Assmann B, Christ S, Meitinger T, Strom TM, Prokisch H; FREX Consortium; Miranda-Vizuete A, Hoffmann GF, Lenaers G, Bomont P, Liebau E, Bonneau D. Colin E, et al. Among authors: lenaers g. Am J Hum Genet. 2016 Sep 1;99(3):695-703. doi: 10.1016/j.ajhg.2016.06.030. Epub 2016 Aug 18. Am J Hum Genet. 2016. PMID: 27545681 Free PMC article.
Mutation spectrum and splicing variants in the OPA1 gene.
Delettre C, Griffoin JM, Kaplan J, Dollfus H, Lorenz B, Faivre L, Lenaers G, Belenguer P, Hamel CP. Delettre C, et al. Among authors: lenaers g. Hum Genet. 2001 Dec;109(6):584-91. doi: 10.1007/s00439-001-0633-y. Epub 2001 Oct 30. Hum Genet. 2001. PMID: 11810270
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. Among authors: lenaers g. Ann Neurol. 2008 May;63(5):667-71. doi: 10.1002/ana.21376. Ann Neurol. 2008. PMID: 18360822 Free article.
OPA1 functions in mitochondria and dysfunctions in optic nerve.
Lenaers G, Reynier P, Elachouri G, Soukkarieh C, Olichon A, Belenguer P, Baricault L, Ducommun B, Hamel C, Delettre C. Lenaers G, et al. Int J Biochem Cell Biol. 2009 Oct;41(10):1866-74. doi: 10.1016/j.biocel.2009.04.013. Epub 2009 Apr 21. Int J Biochem Cell Biol. 2009. PMID: 19389483 Free article. Review.
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: lenaers g. 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.
Dominant optic atrophy.
Lenaers G, Hamel C, Delettre C, Amati-Bonneau P, Procaccio V, Bonneau D, Reynier P, Milea D. Lenaers G, et al. Orphanet J Rare Dis. 2012 Jul 9;7:46. doi: 10.1186/1750-1172-7-46. Orphanet J Rare Dis. 2012. PMID: 22776096 Free PMC article. Review.
Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.
Bonneau D, Colin E, Oca F, Ferré M, Chevrollier A, Guéguen N, Desquiret-Dumas V, N'Guyen S, Barth M, Zanlonghi X, Rio M, Desguerre I, Barnerias C, Momtchilova M, Rodriguez D, Slama A, Lenaers G, Procaccio V, Amati-Bonneau P, Reynier P. Bonneau D, et al. Among authors: lenaers g. Brain. 2014 Oct;137(Pt 10):e301. doi: 10.1093/brain/awu184. Epub 2014 Jul 10. Brain. 2014. PMID: 25012220 Free article. No abstract available.
206 results