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Muriël Messchaert

Radboud University Nijmegen

9

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173

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Extending the Spectrum of EYS-Associated Retinal Disease to Macular Dystrophy

2019 Investigative Ophthalmology & Visual Science
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EYS mutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosa

2018 Human Mutation
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C2orf71a/pcare1 is important for photoreceptor outer segment morphogenesis and visual function in zebrafish

2018 Scientific Reports
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Eyes shut homolog is important for the maintenance of photoreceptor morphology and visual function in zebrafish

2018 PLOS ONE
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Functional characterization of EYS using zebrafish as a model organism

2017 Investigative Ophthalmology & Visual Science
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CRISPR/Cas9-mediated generation and characterization of a C2orf71a-/- zebrafish model

2017 Investigative Ophthalmology & Visual Science
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Antisense oligonucleotide delivery is an effective therapeutic approach for CEP290-associated LCA

2016 Investigative Ophthalmology & Visual Science
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In vitro and in vivo rescue of aberrant splicing in CEP290-associated LCA by antisense oligonucleotide delivery

2016 Human Molecular Genetics
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Alternating Hemiplegia of Childhood mutations have a differential effect on Na+,K+-ATPase activity and ouabain binding

2014 Biochimica et Biophysica Acta
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Citations (29)