Associated Papers
A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families.
Aldosary M et al.
Cells, 2022
36231115 (PubMed )
Supplement: cells-11-03154-s001.zip › cells-1898025-supplementary.pdf
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
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
33841295 (PubMed )
Supplement: Table_2.XLSX › Feuil1
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
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