Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse von Ung, D C, Iacono, G, Méziane, H, Blanchard, E, Papon, M-A, Selten, M, van Rhijn, J-R, Montjean, R, Rucci, J, Martin, S, Fleet, A, Birling, M-C, Marouillat, S, Roepman, R, Selloum, M, Lux, A, Thépault, R-A, Hamel, P, Mittal, K, Vincent, J B, Dorseuil, O, Stunnenberg, H G, Billuart, P, Nadif Kasri, N, Hérault, Y, Laumonnier, F

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ARHGAP12 Functions as a Developmental Brake on Excitatory Synapse Function von Ba, W., Selten, M.M., van der Raadt, J., van Veen, H., Li, L.-L., Benevento, M., Oudakker, A.R., Lasabuda, R.S.E., Letteboer, S.J., Roepman, R., van Wezel, R.J.A., Courtney, M.J., van Bokhoven, H., Nadif Kasri, N.

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Identification of C12orf4 as a gene for autosomal recessive intellectual disability von Philips, A.K., Pinelli, M., de Bie, C.I., Mustonen, A., Määttä, T., Arts, H.H., Wu, K., Roepman, R., Moilanen, J.S., Raza, S., Varilo, T., Scala, G., Cocozza, S., Gilissen, C., van Gassen, K.L.I., Järvelä, I.

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A reference to assess cilium phenotype in ciliopathy patients von Oud, M, Arts, H, Roepman, R

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The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors von ROEPMAN, R, BERNOUD-HUBAC, N, SCHICK, D. E, MAUGERI, A, BERGER, W, ROPERS, H.-H, CREMERS, F. P. M, FERREIRA, P. A

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A high-throughput genome-wide siRNA screen for ciliogenesis identifies new ciliary functional components and ciliopathy genes von Szymanska, K, Wheway, G, Doherty, D, Schmidts, M, Mans, D, Nguyen, TMT, Boldt, K, Tödt, G, Abdelhamed, Z, Wunderlich, K, Natarajan, S, Parry, DA, Logan, CV, Herridge, W, Sorusch, N, Wolfrum, U, Ueffing, M, Roepman, R, Mitchison, H, Johnson, C

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From proteomic data to networks: statistics and methods reveal ciliary protein interaction landscape von Lu, Q, Koutroumpas, K, Boldt, K, Reeuwijk, J Van, Katsanis, N, Képès, F, Roepman, R, Ueffing, M, Russell, RB

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Pericentrin interacts with KASH domain-containing protein Syne-2 von Falk, N, Kessler, K, Glöckner, J, Boldt, K, Ueffing, M, Roepman, R, Thiel, C, Brandstätter, JH, Gießl, A

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RPGR Transcription Studies in Mouse and Human Tissues Reveal a Retina-Specific Isoform That Is Disrupted in a Patient With X-Linked Retinitis Pigmentosa von Kirschner, Renate, Rosenberg, Thomas, Schultz-Heienbrok, Robert, Lenzner, Steffen, Feil, Silke, Roepman, Ronald, Cremers, Frans P. M., Ropers, Hans-Hilger, Berger, Wolfgang

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Non-syndromic retinal ciliopathies: translating gene discovery into therapy von ESTRADA-CUZCANO, Alejandro, ROEPMAN, Ronald, CREMERS, Frans P. M, DEN HOLLANDER, Anneke I, MANS, Dorus A

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A systemic view on retinal ciliopathies: inherited retinal degeneration revisited von ROEPMAN, R

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Identification of mutations in DYNC2LI1, a member of the mammalian cytoplasmic dynein 2 complex, expands the clinical spectrum of Jeune/ATD ciliopathies von Kessler, K, Falk, N, Wunderlich, I, Fröhlich, M, Hauer, N, Gießl, A, Brandstätter, JH, Sticht, H, Ekici, AB, Uebe, S, Seemanová, E, Reis, A, Roepman, R, Thiel, C

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A systems biology approach towards the prediction of ciliopathy mechanisms von Koutroumpas, K, Dam, J Van, Toedt, G, Lu, Q, Reeuwijk, J Van, Boldt, K, Gibson, T, Roepman, R, Ueffing, M, Russell, RB, Huynen, M, Elati, M, Képès, F

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Multidisciplinary nephrogenetic outpatient clinic combined with diagnostic exome sequencing for improved diagnostics and treatment von Lugtenberg, D, Arts, H, Reeuwijk, J Van, Cornelissen, E, Deegens, J, Hofstra, J, Wetzels, J, Gilissen, C, Roepman, R, Kamsteeg, E, Bongers, E

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PDZD7 connects the Usher protein complex to the intraflagellar transport machinery von Vrieze, E De, Creemers, L, Sorusch, N, Gorris, M, Reeuwijk, J Van, Beersum, S Van, Knapp, B, Boldt, K, Ueffing, M, Roepman, R, Wijk, E Van, Wolfram, U, Kremer, H

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Systematic exploration of the ciliary protein landscape by large-scale affinity proteomics von Boldt, K, Van Reeuwijk, J, Lu, Q, Koutroumpas, K, Horn, N, Beersum, S Van, Texier, Y, Nguyen, TM, Willer, JR, Katsanis, N, Képès, F, Russell, RB, Ueffing, M, Roepman, R

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KOUNCIL: Kidney-Oriented Understanding of Correcting Ciliopathies von Stokman, M, Oud, M, Reeuwijk, J Van, Lilien, M, De Kar, N Van, Nijman, I, Gilissen, C, Kroes, HY, Bongers, E, Geijsen, N, Kamsteeg, E, Cuppen, E, Roepman, R, Giles, R, Renkema, K, Arts, H, Knoers, N

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Gene discovery for motile cilia disorders: mutation spectrum in primary ciliary dyskinesia and discovery of mutations in CCDC151 von Onoufriadis, A, Hjeij, R, Watson, CM, Slagle, CE, Klena, NT, Dougherty, GW, Kurkowiak, M, Loges, NT, Diggle, CP, Morante, NF, Gabriel, GC, Lemke, KL, Li, Y, Pennekamp, P, Menchen, T, Marthin, JK, Mans, D, Letteboer, SJ, Werner, C, Burgoyne, T, Westermann, C, Rutman, A, Carr, IM, O'Callaghan, C, Moya, E, Chung, EMK, Sheridan, E, Nielsen, KG, Roepman, R, Burdine, RD, Lo, CW, Omran, H, Mitchison, H

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Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2 von Reiners, Jan, van Wijk, Erwin, Märker, Tina, Zimmermann, Ulrike, Jürgens, Karin, te Brinke, Heleen, Overlack, Nora, Roepman, Ronald, Knipper, Marlies, Kremer, Hannie, Wolfrum, Uwe

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Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network von Di Gioia, Silvio Alessandro, Farinelli, Pietro, Letteboer, Stef J F, Arsenijevic, Yvan, Sharon, Dror, Roepman, Ronald, Rivolta, Carlo

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