| Identification of a common non-apoptotic cell death mechanism in hereditary retinal degeneration B Arango-Gonzalez, D Trifunović, A Sahaboglu, K Kranz, S Michalakis, ... PloS one 9 (11), e112142, 2014 | 207 | 2014 |
| Excessive HDAC activation is critical for neurodegeneration in the rd1 mouse J Sancho-Pelluz, MV Alavi, A Sahaboglu, S Kustermann, P Farinelli, ... Cell death & disease 1 (2), e24-e24, 2010 | 132 | 2010 |
| Calpain and PARP activation during photoreceptor cell death in P23H and S334ter rhodopsin mutant rats J Kaur, S Mencl, A Sahaboglu, P Farinelli, T van Veen, E Zrenner, ... PloS one 6 (7), e22181, 2011 | 107 | 2011 |
| DNA methylation and differential gene regulation in photoreceptor cell death P Farinelli, A Perera, B Arango-Gonzalez, D Trifunovic, M Wagner, ... Cell death & disease 5 (12), e1558-e1558, 2014 | 60 | 2014 |
| IFT20 modulates ciliary PDGFRα signaling by regulating the stability of Cbl E3 ubiquitin ligases FM Schmid, KB Schou, MJ Vilhelm, MS Holm, L Breslin, P Farinelli, ... J Cell Biol, jcb. 201611050, 2017 | 58 | 2017 |
| Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects K Nikopoulos, P Farinelli, B Giangreco, C Tsika, B Royer-Bertrand, ... Am J Hum Genet 99 (3), 770–776, 2016 | 49 | 2016 |
| Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination American Journal of Human Genetics 99 (2), 470-480, 2016 | 49 | 2016 |
| Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility N Bedoni, L Haer-Wigman, V Vaclavik, VH Tran, P Farinelli, S Balzano, ... Human molecular genetics 25 (20), 4546-4555, 2016 | 40 | 2016 |
| CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels AB Gonçalves, SK Hasselbalch, BB Joensen, S Patzke, P Martens, ... eLife, 10:e63731, 2021 | 30 | 2021 |
| A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy K Nikopoulos, K Cisarova, M Quinodoz, H Koskiniemi-Kuendig, N Miyake, ... Nature communications 10 (1), 2884, 2019 | 28 | 2019 |
| Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network SA Di Gioia, P Farinelli, SJF Letteboer, Y Arsenijevic, D Sharon, ... Human molecular genetics 24 (12), 3359-3371, 2015 | 26 | 2015 |
| Retinitis Pigmentosa: over‐expression of anti‐ageing protein Klotho in degenerating photoreceptors P Farinelli, B Arango‐Gonzalez, J Völkl, I Alesutan, F Lang, E Zrenner, ... Journal of Neurochemistry 127 (6), 868-879, 2013 | 18 | 2013 |
| Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss, and reduced male fertility G Ascari, F Peelman, P Farinelli, T Rosseel, N Lambrechts, ... Human mutation 41 (5), 998-1011, 2020 | 15 | 2020 |
| A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa VG Peter, K Nikopoulos, M Quinodoz, L Granse, P Farinelli, ... Ophthalmic genetics 40 (2), 177-181, 2019 | 12 | 2019 |
| Next-Generation Sequencing: Quantensprung für Forschung und Diagnostik in der Ophthalmologie HJ Bolz Klinische Monatsblätter für Augenheilkunde 234 (03), 280-288, 2017 | 9 | 2017 |
| A large multiexonic genomic deletion within the ALMS1 gene causes Alström syndrome in a consanguineous Pakistani family. K Nikopoulos, GU Butt, P Farinelli, M Mudassar, E Domènech‐Estévez, ... Clinical genetics 89 (4), 2016 | 8 | 2016 |
| Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis DM Panneman, RJ Hitti-Malin, LK Holtes, SE de Bruijn, J Reurink, ... Frontiers in cell and developmental biology 11, 1112270, 2023 | 6 | 2023 |
| Angiomotin isoform 2 promotes binding of PALS1 to KIF13B at primary cilia and regulates ciliary length and signaling SK Morthorst, C Nielsen, P Farinelli, Z Anvarian, CBR Rasmussen, ... Journal of Cell Science 135 (12), jcs259471, 2022 | 5 | 2022 |
| Angiomotin isoform 2 promotes binding of PALS1 to KIF13B at the base of primary cilia and suppresses ciliary elongation SK Morthorst, C Nielsen, P Farinelli, Z Anvarian, CBR Rasmussen, ... bioRxiv, 2021.10. 14.464392, 2021 | 1 | 2021 |
| Whole exome sequencing reveals CEP78 as a novel disease gene for cone-rod dystrophy K Nikopoulos, P Farinelli, B Royer-Bertrand, N Bedoni, U Kjellström, ... Investigative Ophthalmology & Visual Science 57 (12), 2016 | 1 | 2016 |
François Paquet-DurandForschungsinstitut für Augenheilkunde, Universitaet TuebingenVerified email at klinikum.uni-tuebingen.de
