Associated Papers
RTN4IP1 Mutation and Endocrine Failure: Clinical Features and Possible Benefits of Coenzyme Q10.
Selvaggio LD et al.
Endocrine Connections, 2026
Accumulation of complex I assembly intermediates in a novel presentation of RTN4IP1-related disorder with developmental delay, ataxia and dyskinesia.
Thys L et al.
Molecular Genetics and Metabolism, 2025
RTN4IP1 is required for the final stages of mitochondrial complex I assembly and CoQ biosynthesis.
Oláhová M et al.
The Embo Journal, 2025
Etiologic Diagnosis of Genetic Hearing Loss in an Ethnically Diverse Deafness Cohort.
Yan D et al.
Audiology & Neuro-otology, 2025
Mitochondrial matrix RTN4IP1/OPA10 is an oxidoreductase for coenzyme Q synthesis.
Park I et al.
Nature Chemical Biology, 2024
Whole Genome Sequencing Identifies a Partial Deletion of RTN4IP1 in a Patient With Isolated Optic Atrophy.
Jurkute N et al.
Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-ophthalmology Society, 2023
Dispersed DNA variants underlie hearing loss in South Florida's minority population.
Peart L et al.
Human Genomics, 2023
A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families.
Aldosary M et al.
Cells, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.
Bouzidi A et al.
Orphanet Journal of Rare Diseases, 2022
A ROD-CONE DYSTROPHY IS SYSTEMATICALLY ASSOCIATED TO THE RTN4IP1 RECESSIVE OPTIC ATROPHY.
Meunier I et al.
Retina (philadelphia, Pa.), 2021
The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study.
Tolomeo D et al.
Journal of Clinical Medicine, 2021
Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy.
Charif M et al.
Frontiers in Neurology, 2021
Optic Atrophy and Generalized Chorea in a Patient Harboring an OPA10/RTN4IP1 Pathogenic Variant.
Giacomini T et al.
Neuropediatrics, 2020
Mutation Screening of mtDNA Combined Targeted Exon Sequencing in a Cohort With Suspected Hereditary Optic Neuropathy.
Li JK et al.
Translational Vision Science & Technology, 2020
Whole Exome Sequencing Identifies Two Novel Mutations in the Reticulon 4-Interacting Protein 1 Gene in a Chinese Family with Autosomal Recessive Optic Neuropathies.
Zou XH et al.
Journal of Molecular Neuroscience : Mn, 2019
Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.
Charif M et al.
Jama Neurology, 2018
Siblings with optic neuropathy and RTN4IP1 mutation.
Okamoto N et al.
Journal of Human Genetics, 2017
Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.
Angebault C et al.
American Journal of Human Genetics, 2015