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Page 1
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. 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
Photoreceptor cell death mechanisms in inherited retinal degeneration.
Sancho-Pelluz J, Arango-Gonzalez B, Kustermann S, Romero FJ, van Veen T, Zrenner E, Ekström P, Paquet-Durand F. Sancho-Pelluz J, et al. Mol Neurobiol. 2008 Dec;38(3):253-69. doi: 10.1007/s12035-008-8045-9. Epub 2008 Nov 4. Mol Neurobiol. 2008. PMID: 18982459 Review.
Study of gene-targeted mouse models of splicing factor gene Prpf31 implicated in human autosomal dominant retinitis pigmentosa (RP).
Bujakowska K, Maubaret C, Chakarova CF, Tanimoto N, Beck SC, Fahl E, Humphries MM, Kenna PF, Makarov E, Makarova O, Paquet-Durand F, Ekström PA, van Veen T, Leveillard T, Humphries P, Seeliger MW, Bhattacharya SS. Bujakowska K, et al. Invest Ophthalmol Vis Sci. 2009 Dec;50(12):5927-33. doi: 10.1167/iovs.08-3275. Epub 2009 Jul 2. Invest Ophthalmol Vis Sci. 2009. PMID: 19578015
Restoration of cone vision in the CNGA3-/- mouse model of congenital complete lack of cone photoreceptor function.
Michalakis S, Mühlfriedel R, Tanimoto N, Krishnamoorthy V, Koch S, Fischer MD, Becirovic E, Bai L, Huber G, Beck SC, Fahl E, Büning H, Paquet-Durand F, Zong X, Gollisch T, Biel M, Seeliger MW. Michalakis S, et al. Mol Ther. 2010 Dec;18(12):2057-63. doi: 10.1038/mt.2010.149. Epub 2010 Jul 13. Mol Ther. 2010. PMID: 20628362 Free PMC article.
A key role for cyclic nucleotide gated (CNG) channels in cGMP-related retinitis pigmentosa.
Paquet-Durand F, Beck S, Michalakis S, Goldmann T, Huber G, Mühlfriedel R, Trifunović D, Fischer MD, Fahl E, Duetsch G, Becirovic E, Wolfrum U, van Veen T, Biel M, Tanimoto N, Seeliger MW. Paquet-Durand F, et al. Hum Mol Genet. 2011 Mar 1;20(5):941-7. doi: 10.1093/hmg/ddq539. Epub 2010 Dec 10. Hum Mol Genet. 2011. PMID: 21149284
107 results