Multimodal Study of PRPH2 Gene-Related Retinal Phenotypes

Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy

(2022) Benedetto Falsini et al.   Scientific Reports

OCT-angiography assessing quiescent and active choroidal neovascularization in retinitis pigmentosa associated with PRPH2 pathogenic variant

(2021) Yousra Falfoul et al.   EUROPEAN JOURNAL OF OPHTHALMOLOGY

Phenotypic Differences in a PRPH2 Mutation in Members of the Same Family Assessed with OCT and OCTA

(2021) Henar Albertos-Arranz et al.   Diagnostics

Treatment and longitudinal follow-up of CNV associated with pattern dystrophy with novel PRPH2 variant

(2021) Jingjing Xu et al.   OPHTHALMIC GENETICS

Aging of the Retina: Molecular and Metabolic Turbulences and Potential Interventions

(2021) Laura Campello et al.   Annual Review of Vision Science

Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan

(2021) Akio Oishi et al.   Genes

Macular Morpho-Functional and Visual Pathways Functional Assessment in Patients with Spinocerebellar Type 1 Ataxia with or without Neurological Signs

(2021) Lucia Ziccardi et al.   Journal of Clinical Medicine

Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom

(2020) Nikolas Pontikos et al.   OPHTHALMOLOGY

Genotype–phenotype associations in a large PRPH2 ‐related retinopathy cohort

(2020) Melissa J. Reeves et al.   HUMAN MUTATION

mRNAs, proteins and the emerging principles of gene expression control

(2020) Christopher Buccitelli et al.   NATURE REVIEWS GENETICS

PRPH2-Related Retinal Diseases: Broadening the Clinical Spectrum and Describing a New Mutation

(2020) Rosa M. Coco-Martin et al.   Genes

A Family Affected by Novel C213W Mutation in PRPH2: Long-Term Follow-Up of CNV Secondary to Pattern Dystrophy

(2020) Chang Sup Lee et al.   Ophthalmic Surgery Lasers & Imaging Retina

Oligomerization of Prph2 and Rom1 is essential for photoreceptor outer segment formation

(2018) Rahel Zulliger et al.   HUMAN MOLECULAR GENETICS

Early and localized retinal dysfunction in patients with type 1 diabetes mellitus studied by multifocal electroretinogram

(2018) Lucia Ziccardi et al.   ACTA DIABETOLOGICA

Crystal Structure of a Full-Length Human Tetraspanin Reveals a Cholesterol-Binding Pocket

(2016) Brandon Zimmerman et al.   CELL

High Prevalence of PRPH2 in Autosomal Dominant Retinitis Pigmentosa in France and Characterization of Biochemical and Clinical Features

(2015) Gaël Manes et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

ISCEV Standard for full-field clinical electroretinography (2015 update)

(2014) Daphne L. McCulloch et al.   DOCUMENTA OPHTHALMOLOGICA

Tetraspanins at a glance

(2014) S. Charrin et al.   JOURNAL OF CELL SCIENCE

PRPH2 MUTATIONS AS A CAUSE OF ELECTRONEGATIVE ERG

(2014) Rola Ba-Abbad et al.   RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES

Gene Therapy for PRPH2-Associated Ocular Disease: Challenges and Prospects

(2014) S. M. Conley et al.   Cold Spring Harbor Perspectives in Medicine

PATTERN DYSTROPHY WITH HIGH INTRAFAMILIAL VARIABILITY ASSOCIATED WITH Y141C MUTATION IN THE PERIPHERIN/RDS GENE AND SUCCESSFUL TREATMENT OF SUBFOVEAL CNV RELATED TO MULTIFOCAL PATTERN TYPE WITH ANTI-VEGF (RANIBIZUMAB) INTRAVITREAL INJECTIONS

(2012) Veronika Vaclavik et al.   RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES

Combination of retinitis pigmentosa and hearing loss caused by a novel mutation in PRPH2 and a known mutation in GJB2: Importance for differential diagnosis of Usher syndrome

(2012) Ana Fakin et al.   VISION RESEARCH

ISCEV Standard for full-field clinical electroretinography (2008 update)

(2008) M. F. Marmor et al.   DOCUMENTA OPHTHALMOLOGICA

The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene

(2008) Camiel J.F. Boon et al.   PROGRESS IN RETINAL AND EYE RESEARCH