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Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach.
Petersen-Jones SM, Occelli LM, Winkler PA, Lee W, Sparrow JR, Tsukikawa M, Boye SL, Chiodo V, Capasso JE, Becirovic E, Schön C, Seeliger MW, Levin AV, Michalakis S, Hauswirth WW, Tsang SH. Petersen-Jones SM, et al. Among authors: schon c. J Clin Invest. 2018 Jan 2;128(1):190-206. doi: 10.1172/JCI95161. Epub 2017 Nov 20. J Clin Invest. 2018. PMID: 29202463 Free PMC article.
Gene therapy for achromatopsia.
Michalakis S, Schön C, Becirovic E, Biel M. Michalakis S, et al. Among authors: schon c. J Gene Med. 2017 Mar;19(3). doi: 10.1002/jgm.2944. J Gene Med. 2017. PMID: 28095637 Review.
Retinitis pigmentosa: impact of different Pde6a point mutations on the disease phenotype.
Sothilingam V, Garcia Garrido M, Jiao K, Buena-Atienza E, Sahaboglu A, Trifunović D, Balendran S, Koepfli T, Mühlfriedel R, Schön C, Biel M, Heckmann A, Beck SC, Michalakis S, Wissinger B, Seeliger MW, Paquet-Durand F. Sothilingam V, et al. Among authors: schon c. Hum Mol Genet. 2015 Oct 1;24(19):5486-99. doi: 10.1093/hmg/ddv275. Epub 2015 Jul 17. Hum Mol Genet. 2015. PMID: 26188004
244 results