Papers matching “retinitis pigmentosa” in Retinal Development and Disorders 38
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Retinitis Pigmentosa GTPase regulator–Associated Retinal Degeneration: Integrating Patient-Reported Outcomes, Genetic, and Structural Biomarkers2025 Ophthalmology Science article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Nuno Gouveia, Jessica S. Karuntu, Hind Almushattat, Rufino Martins da Silva, Camiel J. F. Boon, João Pedro Marques
4citations -
Electrophysiological properties of layer 2/3 pyramidal neurons in the primary visual cortex of a retinitis pigmentosa mouse model (rd10)2023 Frontiers in Cellular Neuroscience article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Claas Halfmann, Thomas Rüland, Frank Ulrich Müller, Kévin Jehasse, Björn M. Kampa
7citations -
Ongoing activation of visual cortex and superior colliculus in the rd10 mouse model of retinitis pigmentosa2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Thomas Rüland, Kerstin Doerenkamp, Peter Severin Graff, Sophie Wetz, Anoushka Jain, Gerion Nabbefeld, +6 more
3citations -
Early Alterations of RNA Binding Protein (RBP) Homeostasis and ER Stress-Mediated Autophagy Contributes to Progressive Retinal Degeneration in the rd10 Mouse Model of Retinitis Pigmentosa (RP)2023 Cells article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Alfred Yamoah, Priyanka Tripathi, Haihong Guo, Leonie Scheve, Peter Walter, Sandra Johnen, +3 more
12citations -
The Lrat−/− Rat: CRISPR/Cas9 Construction and Phenotyping of a New Animal Model for Retinitis Pigmentosa2021 International Journal of Molecular Sciences article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Céline Koster, Koen van den Hurk, Colby F. Lewallen, Mays Talib, Jacoline B. ten Brink, Camiel J. F. Boon, +1 more
14citations -
Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations2021 Molecular Therapy article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access cited by 8 patents
Kalyan Dulla, Ralph W. N. Slijkerman, Hester C. van Diepen, Sílvia Albert, Margo Dona, Wouter Beumer, +19 more
148citations -
Retinitis Pigmentosa: Current Clinical Management and Emerging Therapies2023 International Journal of Molecular Sciences article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Xuan‐Thanh‐An Nguyen, Lude Moekotte, Astrid S. Plomp, Arthur A B Bergen, Maria M. van Genderen, Camiel J. F. Boon
123citations -
CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA2020 Retina article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Xuan‐Thanh‐An Nguyen, Mays Talib, Caroline Van Cauwenbergh, Mary J. van Schooneveld, Marta F. Fiocco, Jan Wijnholds, +15 more
39citations -
QR‐421a RNA therapy in retinitis pigmentosa due to mutations in USH2A: Stellar trial Phase[AP1] 1b/2 interim results2022 Acta Ophthalmologica article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders
Isabelle S. Audo, David G. Birch, Thiran Jayasundera, Isabelle Meunier, Rachel M. Huckfeldt, Robert K. Koenekoop, +6 more
12citations -
Clinical Phenotype and Course of PDE6A -Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial2020 JAMA Ophthalmology article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Laura Kuehlewein, Ditta Zobor, Sten Andréasson, Carmen Ayuso, Sandro Banfi, Béatrice Bocquet, +19 more
20citations -
Test–retest variability of mesopic microperimetry‐associated parameters in patients with retinitis pigmentosa: REPEAT Study Report No. 22024 Acta Ophthalmologica article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Jessica S. Karuntu, Maximilian Pfau, Jasleen K. Jolly, Camiel J. F. Boon
12citations -
AAV-CRB2 protects against vision loss in an inducible CRB1 retinitis pigmentosa mouse model2020 Molecular Therapy — Methods & Clinical Development article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Thilo M. Buck, Rogier M. Vos, C. Henrique Alves, Jan Wijnholds
23citations -
AAV-mediated gene replacement therapy for LRAT-associated retinitis pigmentosa: a proof-of-concept study in a patient-based rat model2026 Gene Therapy article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders
A. M. El-Kalaani, J. B. Ten Brink, Camiel J. F. Boon, Céline Koster
0citations -
Early alterations of RNA binding protein (RBP) homeostasis and ER stress-mediated autophagy triggers progressive retinal degeneration in the rd10 mouse model of retinitis pigmentosa (RP)2022 Research Square preprint Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Anand Goswami, Alfred Yamoah, Priyanka Tripathi, Haihong Guo, Leoni Scheive, Sandra Johnen, +2 more
0citations -
Early alterations of RNA binding protein (RBP) homeostasis and ER stress-mediated autophagy trigger progressive retinal degeneration in the rd10 mouse model of retinitis pigmentosa (RP)0citations
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Syndromic retinitis pigmentosa2024 Progress in Retinal and Eye Research article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Jessica S. Karuntu, Hind Almushattat, Xuan‐Thanh‐An Nguyen, Astrid S. Plomp, Ronald J. A. Wanders, Carel B. Hoyng, +8 more
39citations -
Degenerated Cones in Cultured Human Retinas Can Successfully Be Optogenetically Reactivated2020 International Journal of Molecular Sciences article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Sizar Kamar, Marcus H. C. Howlett, Wim de Graaff, Tamás Csikós, Martijn J. W. E. Rabelink, Rob C. Hoeben, +1 more
9citations -
CRB1 is required for recycling by RAB11A+ vesicles in human retinal organoids2023 Stem Cell Reports article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Thilo M. Buck, Peter M. J. Quinn, Lucie P. Pellissier, Aat A. Mulder, Aldo Jongejan, Xuefei Lu, +15 more
10citations -
Defining Phenotype, Tropism, and Retinal Gene Therapy Using Adeno-Associated Viral Vectors (AAVs) in New-Born Brown Norway Rats with a Spontaneous Mutation in Crb12021 International Journal of Molecular Sciences article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Nanda Boon, C. Henrique Alves, Aat A. Mulder, Charlotte A. Andriessen, Thilo M. Buck, Peter M. J. Quinn, +4 more
14citations -
Characterization and AAV-mediated CRB gene augmentation in human-derived CRB1KO and CRB1KOCRB2+/− retinal organoids2023 Molecular Therapy — Methods & Clinical Development article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Nanda Boon, Xuefei Lu, Charlotte A. Andriessen, M A Orlova, Peter M. J. Quinn, Camiel J. F. Boon, +1 more
11citations -
CRB1-Associated Retinal Dystrophies: A Prospective Natural History Study in Anticipation of Future Clinical Trials2021 American Journal of Ophthalmology article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Xuan‐Thanh‐An Nguyen, Mays Talib, Mary J. van Schooneveld, Jan Wijnholds, Maria M. van Genderen, Nicoline Elisabeth Schalij-Delfos, +12 more
43citations