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Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.
Ferré M, Bonneau D, Milea D, Chevrollier A, Verny C, Dollfus H, Ayuso C, Defoort S, Vignal C, Zanlonghi X, Charlin JF, Kaplan J, Odent S, Hamel CP, Procaccio V, Reynier P, Amati-Bonneau P. Ferré M, et al. Among authors: zanlonghi x. Hum Mutat. 2009 Jul;30(7):E692-705. doi: 10.1002/humu.21025. Hum Mutat. 2009. PMID: 19319978 Free article.
Papilloedema and MRI enhancement of the prechiasmal optic nerve at the acute stage of Leber hereditary optic neuropathy.
Lamirel C, Cassereau J, Cochereau I, Vignal-Clermont C, Pajot O, Tanguy JY, Zanlonghi X, Reynier P, Amati-Bonneau P, Dubas F, Bonneau D, Verny C. Lamirel C, et al. Among authors: zanlonghi x. J Neurol Neurosurg Psychiatry. 2010 May;81(5):578-80. doi: 10.1136/jnnp.2009.174953. J Neurol Neurosurg Psychiatry. 2010. PMID: 20460595 Free article.
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: zanlonghi x. 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.
Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant.
Charif M, Titah SM, Roubertie A, Desquiret-Dumas V, Gueguen N, Meunier I, Leid J, Massal F, Zanlonghi X, Mercier J, Raynaud de Mauverger E, Procaccio V, Mousson de Camaret B, Lenaers G, Hamel CP. Charif M, et al. Among authors: zanlonghi x. Am J Med Genet A. 2015 Oct;167A(10):2366-74. doi: 10.1002/ajmg.a.37188. Epub 2015 Jun 10. Am J Med Genet A. 2015. PMID: 26061759
Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.
Charif M, Nasca A, Thompson K, Gerber S, Makowski C, Mazaheri N, Bris C, Goudenège D, Legati A, Maroofian R, Shariati G, Lamantea E, Hopton S, Ardissone A, Moroni I, Giannotta M, Siegel C, Strom TM, Prokisch H, Vignal-Clermont C, Derrien S, Zanlonghi X, Kaplan J, Hamel CP, Leruez S, Procaccio V, Bonneau D, Reynier P, White FE, Hardy SA, Barbosa IA, Simpson MA, Vara R, Perdomo Trujillo Y, Galehdari H, Deshpande C, Haack TB, Rozet JM, Taylor RW, Ghezzi D, Amati-Bonneau P, Lenaers G. Charif M, et al. Among authors: zanlonghi x. JAMA Neurol. 2018 Jan 1;75(1):105-113. doi: 10.1001/jamaneurol.2017.2065. JAMA Neurol. 2018. PMID: 29181510 Free PMC article.
Cyclosporine A does not prevent second-eye involvement in Leber's hereditary optic neuropathy.
Leruez S, Verny C, Bonneau D, Procaccio V, Lenaers G, Amati-Bonneau P, Reynier P, Scherer C, Prundean A, Orssaud C, Zanlonghi X, Rougier MB, Tilikete C, Miléa D. Leruez S, et al. Among authors: zanlonghi x. Orphanet J Rare Dis. 2018 Feb 17;13(1):33. doi: 10.1186/s13023-018-0773-y. Orphanet J Rare Dis. 2018. PMID: 29454364 Free PMC article. Clinical Trial.
Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy.
Piro-Mégy C, Sarzi E, Tarrés-Solé A, Péquignot M, Hensen F, Quilès M, Manes G, Chakraborty A, Sénéchal A, Bocquet B, Cazevieille C, Roubertie A, Müller A, Charif M, Goudenège D, Lenaers G, Wilhelm H, Kellner U, Weisschuh N, Wissinger B, Zanlonghi X, Hamel C, Spelbrink JN, Sola M, Delettre C. Piro-Mégy C, et al. Among authors: zanlonghi x. J Clin Invest. 2020 Jan 2;130(1):143-156. doi: 10.1172/JCI128513. J Clin Invest. 2020. PMID: 31550237 Free PMC article.
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: zanlonghi x. Neurol Genet. 2020 May 20;6(3):e428. doi: 10.1212/NXG.0000000000000428. eCollection 2020 Jun. Neurol Genet. 2020. PMID: 32548275 Free PMC article.
70 results