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Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.
Zeitz C, Michiels C, Neuillé M, Friedburg C, Condroyer C, Boyard F, Antonio A, Bouzidi N, Milicevic D, Veaux R, Tourville A, Zoumba A, Seneina I, Foussard M, Andrieu C, N Preising M, Blanchard S, Saraiva JP, Mesrob L, Le Floch E, Jubin C, Meyer V, Blanché H, Boland A, Deleuze JF, Sharon D, Drumare I, Defoort-Dhellemmes S, De Baere E, Leroy BP, Zanlonghi X, Casteels I, de Ravel TJ, Balikova I, Koenekoop RK, Laffargue F, McLean R, Gottlob I, Bonneau D, Schorderet DF, L Munier F, McKibbin M, Prescott K, Pelletier V, Dollfus H, Perdomo-Trujillo Y, Faure C, Reiff C, Wissinger B, Meunier I, Kohl S, Banin E, Zrenner E, Jurklies B, Lorenz B, Sahel JA, Audo I. Zeitz C, et al. Among authors: n preising m, bouzidi n. Hum Mutat. 2019 Jun;40(6):765-787. doi: 10.1002/humu.23735. Epub 2019 Mar 28. Hum Mutat. 2019. PMID: 30825406
Identification and characterization of novel TRPM1 autoantibodies from serum of patients with melanoma-associated retinopathy.
Varin J, Reynolds MM, Bouzidi N, Tick S, Wohlschlegel J, Becquart O, Michiels C, Dereure O, Duvoisin RM, Morgans CW, Sahel JA, Samaran Q, Guillot B, Pulido JS, Audo I, Zeitz C. Varin J, et al. Among authors: bouzidi n. PLoS One. 2020 Apr 23;15(4):e0231750. doi: 10.1371/journal.pone.0231750. eCollection 2020. PLoS One. 2020. PMID: 32324760 Free PMC article.
Substantial restoration of night vision in adult mice with congenital stationary night blindness.
Varin J, Bouzidi N, Gauvain G, Joffrois C, Desrosiers M, Robert C, De Sousa Dias MM, Neuillé M, Michiels C, Nassisi M, Sahel JA, Picaud S, Audo I, Dalkara D, Zeitz C. Varin J, et al. Among authors: bouzidi n. Mol Ther Methods Clin Dev. 2021 May 21;22:15-25. doi: 10.1016/j.omtm.2021.05.008. eCollection 2021 Sep 10. Mol Ther Methods Clin Dev. 2021. PMID: 34401402 Free PMC article.
Shedding light on myopia by studying complete congenital stationary night blindness.
Zeitz C, Roger JE, Audo I, Michiels C, Sánchez-Farías N, Varin J, Frederiksen H, Wilmet B, Callebert J, Gimenez ML, Bouzidi N, Blond F, Guilllonneau X, Fouquet S, Léveillard T, Smirnov V, Vincent A, Héon E, Sahel JA, Kloeckener-Gruissem B, Sennlaub F, Morgans CW, Duvoisin RM, Tkatchenko AV, Picaud S. Zeitz C, et al. Among authors: bouzidi n. Prog Retin Eye Res. 2023 Mar;93:101155. doi: 10.1016/j.preteyeres.2022.101155. Epub 2023 Jan 19. Prog Retin Eye Res. 2023. PMID: 36669906 Free article. Review.
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.
Bauché S, O'Regan S, Azuma Y, Laffargue F, McMacken G, Sternberg D, Brochier G, Buon C, Bouzidi N, Topf A, Lacène E, Remerand G, Beaufrere AM, Pebrel-Richard C, Thevenon J, El Chehadeh-Djebbar S, Faivre L, Duffourd Y, Ricci F, Mongini T, Fiorillo C, Astrea G, Burloiu CM, Butoianu N, Sandu C, Servais L, Bonne G, Nelson I, Desguerre I, Nougues MC, Bœuf B, Romero N, Laporte J, Boland A, Lechner D, Deleuze JF, Fontaine B, Strochlic L, Lochmuller H, Eymard B, Mayer M, Nicole S. Bauché S, et al. Among authors: bouzidi n. Am J Hum Genet. 2016 Sep 1;99(3):753-761. doi: 10.1016/j.ajhg.2016.06.033. Epub 2016 Aug 25. Am J Hum Genet. 2016. PMID: 27569547 Free PMC article.
34 results