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Human Molecular Genetics
|
April 27, 2017
Arl3 and RP2 regulate the trafficking of ciliary tip kinesins
Nele Schwarz, Amelia Lane, Katarina Jovanovic, et al.
Human Molecular Genetics
|
September 1, 2017
Arl3 and RP2 regulate the trafficking of ciliary tip kinesins
Nele Schwarz, Amelia Lane, Katarina Jovanovic, et al.
Molecular Therapy. Nucleic Acids
|
March 13, 2023
Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant <i>ABCA4</i> c.5461-10T>C
Melita Kaltak, Petra de Bruijn, Davide Piccolo, et al.
American Journal of Ophthalmology
|
November 17, 2023
RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History in a Large Cohort of Female Carriers
Michalis Georgiou, Anthony G Robson, Sami H Uwaydat, et al.
Plos One
|
March 24, 2015
The Leber congenital amaurosis protein AIPL1 and EB proteins co-localize at the photoreceptor cilium
Juan Hidalgo-de-Quintana, Nele Schwarz, Ingrid P Meschede, et al.
Cell Death Discovery
|
October 21, 2025
Preventing light-induced toxicity in a new mouse model of sector retinitis pigmentosa caused by Rhodopsin M39R variant
Rosellina Guarascio, Kalliopi Ziaka, Kwan-Leong Hau, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
January 20, 2024
Proof-of-concept for multiple AON delivery by a single U7snRNA vector to restore splicing defects in ABCA4
Nuria Suárez-Herrera, Iris B Riswick, Irene Vázquez-Domínguez, et al.
Human Molecular Genetics
|
February 12, 2009
The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1
David A Parfitt, Gregory J Michael, Esmeralda G M Vermeulen, et al.
Stem Cell Reports
|
June 13, 2020
Modeling and Rescue of RP2 Retinitis Pigmentosa Using iPSC-Derived Retinal Organoids
Amelia Lane, Katarina Jovanovic, Ciara Shortall, et al.
Acta Neuropathologica Communications
|
May 19, 2025
Correction: Small molecule treatment alleviates photoreceptor cilia defects in LCA5-deficient human retinal organoids
Dimitra Athanasiou, Tess A V Afanasyeva, Niuzheng Chai, et al.
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Search research articles
Search
Showing results (91-100 of 161) with videos related to
Sort By:
Page
of 17
Human Molecular Genetics
|
April 27, 2017
Arl3 and RP2 regulate the trafficking of ciliary tip kinesins
Nele Schwarz, Amelia Lane, Katarina Jovanovic, et al.
Human Molecular Genetics
|
September 1, 2017
Arl3 and RP2 regulate the trafficking of ciliary tip kinesins
Nele Schwarz, Amelia Lane, Katarina Jovanovic, et al.
Molecular Therapy. Nucleic Acids
|
March 13, 2023
Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant <i>ABCA4</i> c.5461-10T>C
Melita Kaltak, Petra de Bruijn, Davide Piccolo, et al.
American Journal of Ophthalmology
|
November 17, 2023
RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History in a Large Cohort of Female Carriers
Michalis Georgiou, Anthony G Robson, Sami H Uwaydat, et al.
Plos One
|
March 24, 2015
The Leber congenital amaurosis protein AIPL1 and EB proteins co-localize at the photoreceptor cilium
Juan Hidalgo-de-Quintana, Nele Schwarz, Ingrid P Meschede, et al.
Cell Death Discovery
|
October 21, 2025
Preventing light-induced toxicity in a new mouse model of sector retinitis pigmentosa caused by Rhodopsin M39R variant
Rosellina Guarascio, Kalliopi Ziaka, Kwan-Leong Hau, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
January 20, 2024
Proof-of-concept for multiple AON delivery by a single U7snRNA vector to restore splicing defects in ABCA4
Nuria Suárez-Herrera, Iris B Riswick, Irene Vázquez-Domínguez, et al.
Human Molecular Genetics
|
February 12, 2009
The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1
David A Parfitt, Gregory J Michael, Esmeralda G M Vermeulen, et al.
Stem Cell Reports
|
June 13, 2020
Modeling and Rescue of RP2 Retinitis Pigmentosa Using iPSC-Derived Retinal Organoids
Amelia Lane, Katarina Jovanovic, Ciara Shortall, et al.
Acta Neuropathologica Communications
|
May 19, 2025
Correction: Small molecule treatment alleviates photoreceptor cilia defects in LCA5-deficient human retinal organoids
Dimitra Athanasiou, Tess A V Afanasyeva, Niuzheng Chai, et al.
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of 17