Search Results - Erwin van Wijk

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  1. 1

    Generation and Characterization of a Zebrafish Model for <i>ADGRV1-</i>Associated Retinal Dysfunction Using CRISPR/Cas9 Genome Editing Technology by Merel Stemerdink, Sanne Broekman, Theo Peters, Hannie Kremer, Erik de Vrieze, Erwin van Wijk

    Published in Cells (2023-06-01)
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  2. 2

    A protein domain-oriented approach to expand the opportunities of therapeutic exon skipping for USH2A-associated retinitis pigmentosa by Renske T.W. Schellens, Sanne Broekman, Theo Peters, Pam Graave, Lucija Malinar, Hanka Venselaar, Hannie Kremer, Erik De Vrieze, Erwin Van Wijk

    Published in Molecular Therapy: Nucleic Acids (2023-06-01)
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  3. 3

    Eyes shut homolog is important for the maintenance of photoreceptor morphology and visual function in zebrafish. by Muriël Messchaert, Margo Dona, Sanne Broekman, Theo A Peters, Julio C Corral-Serrano, Ralph W N Slijkerman, Erwin van Wijk, Rob W J Collin

    Published in PLoS ONE (2018-01-01)
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  4. 4

    AON-based degradation of c.151C>T mutant COCH transcripts associated with dominantly inherited hearing impairment DFNA9 by Erik de Vrieze, Jorge Cañas Martín, Jolien Peijnenborg, Aniek Martens, Jaap Oostrik, Simone van den Heuvel, Kornelia Neveling, Ronald Pennings, Hannie Kremer, Erwin van Wijk

    Published in Molecular Therapy: Nucleic Acids (2021-06-01)
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  5. 5

    USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids by Carla Sanjurjo-Soriano, Carla Jimenez-Medina, Nejla Erkilic, Luisina Cappellino, Arnaud Lefevre, Kerstin Nagel-Wolfrum, Uwe Wolfrum, Erwin Van Wijk, Anne-Françoise Roux, Isabelle Meunier, Vasiliki Kalatzis

    Published in HGG Advances (2023-10-01)
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  6. 6

    Genotype-Phenotype Correlations of Pathogenic <i>COCH</i> Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis by Sybren M. M. Robijn, Jeroen J. Smits, Kadriye Sezer, Patrick L. M. Huygen, Andy J. Beynon, Erwin van Wijk, Hannie Kremer, Erik de Vrieze, Cornelis P. Lanting, Ronald J. E. Pennings

    Published in Biomolecules (2022-01-01)
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  7. 7

    Pathogenic Variants in the COCH Gene That Lead to Hearing Loss and Vestibular Deficit: Update on DFNA9 and Introducing DFNB110 by Vincent Van Rompaey, Hanne Gommeren, Joyce Bosmans, Dorien Verdoodt, Sebastien JanssensdeVarebeke, Erik de Vrieze, Ronald Pennings, Raymond Van de Berg, Marc Lammers, Olivier Vanderveken, Erik Fransen, Guy Van Camp, Erwin Van Wijk

    Published in B-ENT (2022-10-01)
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  8. 8

    Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome by Belén García-Bohórquez, Pilar Barberán-Martínez, Elena Aller, Teresa Jaijo, Pablo Mínguez, Cristina Rodilla, Lidia Fernández-Caballero, Fiona Blanco-Kelly, Carmen Ayuso, Alba Sanchis-Juan, Sanne Broekman, Erik de Vrieze, Erwin van Wijk, Gema García-García, José M. Millán

    Published in Molecular Therapy: Nucleic Acids (2024-12-01)
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  9. 9

    CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia. by Francisco J Arjona, Jeroen H F de Baaij, Karl P Schlingmann, Anke L L Lameris, Erwin van Wijk, Gert Flik, Sabrina Regele, G Christoph Korenke, Birgit Neophytou, Stephan Rust, Nadine Reintjes, Martin Konrad, René J M Bindels, Joost G J Hoenderop

    Published in PLoS Genetics (2014-04-01)
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  10. 10

    The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking. by Ruxandra Bachmann-Gagescu, Margo Dona, Lisette Hetterschijt, Edith Tonnaer, Theo Peters, Erik de Vrieze, Dorus A Mans, Sylvia E C van Beersum, Ian G Phelps, Heleen H Arts, Jan E Keunen, Marius Ueffing, Ronald Roepman, Karsten Boldt, Dan Doherty, Cecilia B Moens, Stephan C F Neuhauss, Hannie Kremer, Erwin van Wijk

    Published in PLoS Genetics (2015-10-01)
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  11. 11

    NINL and DZANK1 Co-function in Vesicle Transport and Are Essential for Photoreceptor Development in Zebrafish. by Margo Dona, Ruxandra Bachmann-Gagescu, Yves Texier, Grischa Toedt, Lisette Hetterschijt, Edith L Tonnaer, Theo A Peters, Sylvia E C van Beersum, Judith G M Bergboer, Nicola Horn, Erik de Vrieze, Ralph W N Slijkerman, Jeroen van Reeuwijk, Gert Flik, Jan E Keunen, Marius Ueffing, Toby J Gibson, Ronald Roepman, Karsten Boldt, Hannie Kremer, Erwin van Wijk

    Published in PLoS Genetics (2015-10-01)
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  12. 12

    Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant by Janine Reurink, Erik de Vrieze, Catherina H. Z. Li, Emma van Berkel, Sanne Broekman, Marco Aben, Theo Peters, Jaap Oostrik, Kornelia Neveling, Hanka Venselaar, Mariana Guimarães Ramos, Christian Gilissen, Galuh D. N. Astuti, Jordi Corominas Galbany, Janneke J. C. van Lith-Verhoeven, Charlotte W. Ockeloen, Lonneke Haer-Wigman, Carel B. Hoyng, Frans P. M. Cremers, Hannie Kremer, Susanne Roosing, Erwin van Wijk

    Published in npj Genomic Medicine (2022-06-01)
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  13. 13

    Evaluation of Sleep Quality and Fatigue in Patients with Usher Syndrome Type 2a by Jessie M. Hendricks, MSc, Juriaan R. Metz, PhD, Hedwig M. Velde, MSc, Jack Weeda, BSc, Franca Hartgers, PhD, Suzanne Yzer, MD, PhD, Carel B. Hoyng, MD, PhD, Ronald J.E. Pennings, MD, PhD, Rob W.J. Collin, PhD, Myrthe H.M. Boss, MD, PhD, Erik de Vrieze, PhD, Erwin van Wijk, PhD

    Published in Ophthalmology Science (2023-12-01)
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