Preface of Special Issue "Molecular Therapies for Inherited Retinal Diseases"

por Collin, Rob W.J., Garanto, Alejandro
Publicado 2020

Species-Dependent Splice Recognition of a Cryptic Exon Resulting from a Recurrent Intronic CEP290 Mutation that Causes Congenital Blindness

por Garanto, Alejandro, Duijkers, Lonneke, Collin, Rob W. J.
Publicado 2015

Molecular Therapies for Inherited Retinal Diseases—Current Standing, Opportunities and Challenges

por Vázquez-Domínguez, Irene, Garanto, Alejandro, Collin, Rob W. J.
Publicado 2019

Antisense Oligonucleotide Screening to Optimize the Rescue of the Splicing Defect Caused by the Recurrent Deep-Intronic ABCA4 Variant c.4539+2001G>A in Stargardt Disease

por Garanto, Alejandro, Duijkers, Lonneke, Tomkiewicz, Tomasz Z., Collin, Rob W. J.
Publicado 2019

Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations

por Cremers, Frans P.M., Lee, Winston, Collin, Rob W.J., Allikmets, Rando
Publicado 2020

Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing

por Kaltak, Melita, Corradi, Zelia, Collin, Rob W J, Swildens, Jim, Cremers, Frans P M
Publicado 2023

Correction: P-cadherin mutations are associated with high basal Wnt activity and stemness in canine mammary tumor cell lines

por Timmermans-Sprang, Elpetra, Collin, Rob W.J., Henkes, Arjen, Philipsen, Meike, Mol, Jan A.
Publicado 2020

Antisense Oligonucleotide-Based Rescue of Aberrant Splicing Defects Caused by 15 Pathogenic Variants in ABCA4

por Tomkiewicz, Tomasz Z., Suárez-Herrera, Nuria, Cremers, Frans P. M., Collin, Rob W. J., Garanto, Alejandro
Publicado 2021

PCARE requires coiled coil, RP62 kinase-binding and EVH1 domain-binding motifs for ciliary expansion

por Afanasyeva, Tess A V, Schnellbach, Yan-Ting, Gibson, Toby J, Roepman, Ronald, Collin, Rob W J
Publicado 2022

Correction of the Splicing Defect Caused by a Recurrent Variant in ABCA4 (c.769-784C>T) That Underlies Stargardt Disease

por Tomkiewicz, Tomasz Z., Nieuwenhuis, Sara E., Cremers, Frans P. M., Garanto, Alejandro, Collin, Rob W. J.
Publicado 2022

Variants in Nebulin (NEB) Are Linked to the Development of Familial Primary Angle Closure Glaucoma in Basset Hounds

por Ahram, Dina F., Grozdanic, Sinisa D., Kecova, Helga, Henkes, Arjen, Collin, Rob W. J., Kuehn, Markus H.
Publicado 2015

A look into retinal organoids: methods, analytical techniques, and applications

por Afanasyeva, Tess A. V., Corral-Serrano, Julio C., Garanto, Alejandro, Roepman, Ronald, Cheetham, Michael E., Collin, Rob W. J.
Publicado 2021

Unexpected CEP290 mRNA Splicing in a Humanized Knock-In Mouse Model for Leber Congenital Amaurosis

por Garanto, Alejandro, van Beersum, Sylvia E. C., Peters, Theo A., Roepman, Ronald, Cremers, Frans P. M., Collin, Rob W. J.
Publicado 2013

The Molecular Basis of Retinal Dystrophies in Pakistan

por Khan, Muhammad Imran, Azam, Maleeha, Ajmal, Muhammad, Collin, Rob W. J., den Hollander, Anneke I., Cremers, Frans P. M., Qamar, Raheel
Publicado 2014

C2orf71a/pcare1 is important for photoreceptor outer segment morphogenesis and visual function in zebrafish

por Corral-Serrano, Julio C., Messchaert, Muriël, Dona, Margo, Peters, Theo A., Kamminga, Leonie M., van Wijk, Erwin, Collin, Rob W. J.
Publicado 2018

Expression of Wild-Type Rp1 Protein in Rp1 Knock-in Mice Rescues the Retinal Degeneration Phenotype

por Liu, Qin, Collin, Rob W. J., Cremers, Frans P. M., den Hollander, Anneke I., van den Born, L. Ingeborgh, Pierce, Eric A.
Publicado 2012

Zebrafish as a Model to Evaluate a CRISPR/Cas9-Based Exon Excision Approach as a Future Treatment Option for EYS-Associated Retinitis Pigmentosa

por Schellens, Renske, de Vrieze, Erik, Graave, Pam, Broekman, Sanne, Nagel-Wolfrum, Kerstin, Peters, Theo, Kremer, Hannie, Collin, Rob W. J., van Wijk, Erwin
Publicado 2021

A novel crumbs homolog 1 mutation in a family with retinitis pigmentosa, nanophthalmos, and optic disc drusen

por Paun, Codrut C., Pijl, Benjamin J., Siemiatkowska, Anna M., Collin, Rob W.J., Cremers, Frans P.M., Hoyng, Carel B., den Hollander, Anneke I.
Publicado 2012

Eyes shut homolog is important for the maintenance of photoreceptor morphology and visual function in zebrafish

por Messchaert, Muriël, Dona, Margo, Broekman, Sanne, Peters, Theo A., Corral-Serrano, Julio C., Slijkerman, Ralph W. N., van Wijk, Erwin, Collin, Rob W. J.
Publicado 2018

Gene augmentation of LCA5-associated Leber congenital amaurosis ameliorates bulge region defects of the photoreceptor ciliary axoneme

por Faber, Siebren, Mercey, Olivier, Junger, Katrin, Garanto, Alejandro, May-Simera, Helen, Ueffing, Marius, Collin, Rob W.J., Boldt, Karsten, Guichard, Paul, Hamel, Virginie, Roepman, Ronald
Publicado 2023