Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations-Reference-Cited by-同舟云学术

Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations

Published:2020-12-29 Issue:14 Volume:61 Page:36
ISSN:1552-5783
Container-title:Investigative Opthalmology & Visual Science
language:en
Short-container-title:Invest. Ophthalmol. Vis. Sci.

Author:

Di Iorio Valentina¹,Karali Marianthi¹²,Melillo Paolo¹,Testa Francesco¹,Brunetti-Pierri Raffaella¹,Musacchia Francesco²,Condroyer Christel³,Neidhardt John⁴⁵,Audo Isabelle³⁶⁷,Zeitz Christina³,Banfi Sandro²⁸,Simonelli Francesca¹

Affiliation:

1. Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Università degli Studi della Campania “Luigi Vanvitelli,” Naples, Italy

2. Telethon Institute of Genetics and Medicine, Pozzuoli, Italy

3. Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France

4. Human Genetics, Faculty of Medicine and Health Sciences, University of Oldenburg, Oldenburg, Germany

5. Research Center Neurosensory Science, University Oldenburg, Oldenburg, Germany

6. CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DGOS CIC, France

7. Institute of Ophthalmology, University College of London, London, United Kingdom

8. Medical Genetics, Department of Precision Medicine, Università degli Studi della Campania “Luigi Vanvitelli,” Naples, Italy

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

General Medicine

Cited by 22 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. From onset to blindness: a comprehensive analysis ofRPGR-associated X-linked retinopathy in a large cohort in China;Journal of Medical Genetics;2024-08-17

2. XOLARIS: A 24-Month, Prospective, Natural History Study of 201 Participants With RPGR-associated X-Linked Retinitis Pigmentosa;Ophthalmology Science;2024-08

3. Impacts of X-linked Retinitis Pigmentosa and Patient Pathways in European Countries: Results from the Cross-sectional EXPLORE XLRP-1 Physician Survey;Advances in Therapy;2024-07-08

4. Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa;European Journal of Human Genetics;2024-07-05

5. AAV-RPGR Gene Therapy Rescues Opsin Mislocalisation in a Human Retinal Organoid Model of RPGR-Associated X-Linked Retinitis Pigmentosa;International Journal of Molecular Sciences;2024-02-02