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Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy.
Zeitz C, Navarro J, Azizzadeh Pormehr L, Méjécase C, Neves LM, Letellier C, Condroyer C, Albadri S, Amprou A, Antonio A, Ben-Yacoub T, Wohlschlegel J, Andrieu C, Serafini M, Bianco L, Antropoli A, Nassisi M, El Shamieh S, Chantot-Bastaraud S, Mohand-Saïd S, Smirnov V, Sahel JA, Del Bene F, Audo I. Zeitz C, et al. Among authors: wohlschlegel j. Genet Med. 2024 Jan 28:101081. doi: 10.1016/j.gim.2024.101081. Online ahead of print. Genet Med. 2024. PMID: 38293907 Free article.
Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy.
Zeitz C, Méjécase C, Michiels C, Condroyer C, Wohlschlegel J, Foussard M, Antonio A, Démontant V, Emmenegger L, Schalk A, Neuillé M, Orhan E, Augustin S, Bonnet C, Estivalet A, Blond F, Blanchard S, Andrieu C, Chantot-Bastaraud S, Léveillard T, Mohand-Saïd S, Sahel JA, Audo I. Zeitz C, et al. Among authors: wohlschlegel j. Int J Mol Sci. 2021 Jul 23;22(15):7875. doi: 10.3390/ijms22157875. Int J Mol Sci. 2021. PMID: 34360642 Free PMC article.
Generation of gene corrected human isogenic iPSC lines (IDVi003-A_CR13, IDVi003-A_CR21, IDVi003-A_CR24) from an inherited retinal dystrophy patient-derived IPSC line ITM2B-5286-3 (IDVi003-A) carrying the ITM2B c.782A > C variant using CRISPR/Cas9.
Ben Yacoub T, Letellier C, Wohlschlegel J, Condroyer C, Slembrouck-Brec A, Goureau O, Zeitz C, Audo I. Ben Yacoub T, et al. Among authors: wohlschlegel j. Stem Cell Res. 2023 Sep;71:103166. doi: 10.1016/j.scr.2023.103166. Epub 2023 Jul 14. Stem Cell Res. 2023. PMID: 37473460 Free article.
DEEP PHENOTYPING AND FURTHER INSIGHTS INTO ITM2B-RELATED RETINAL DYSTROPHY.
Nassisi M, Wohlschlegel J, Liu B, Letellier C, Michiels C, Aubois A, Mohand-Said S, Habas C, Sahel JA, Zeitz C, Audo I. Nassisi M, et al. Among authors: wohlschlegel j. Retina. 2021 Apr 1;41(4):872-881. doi: 10.1097/IAE.0000000000002953. Retina. 2021. PMID: 32826790
First identification of ITM2B interactome in the human retina.
Wohlschlegel J, Argentini M, Michiels C, Letellier C, Forster V, Condroyer C, He Z, Thuret G, Zeitz C, Léger T, Audo I. Wohlschlegel J, et al. Sci Rep. 2021 Aug 26;11(1):17210. doi: 10.1038/s41598-021-96571-6. Sci Rep. 2021. PMID: 34446781 Free PMC article.
[CRISPR/Cas9: From research to therapeutic application].
Ben Yacoub T, Wohlschlegel J, Sahel JA, Zeitz C, Audo I. Ben Yacoub T, et al. Among authors: wohlschlegel j. J Fr Ophtalmol. 2023 Apr;46(4):398-407. doi: 10.1016/j.jfo.2022.10.008. Epub 2023 Feb 8. J Fr Ophtalmol. 2023. PMID: 36759244 Free article. Review. French.
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: wohlschlegel j. PLoS One. 2020 Apr 23;15(4):e0231750. doi: 10.1371/journal.pone.0231750. eCollection 2020. PLoS One. 2020. PMID: 32324760 Free PMC article.
268 results