Associated Papers
Autosomal dominant pigmented paravenous retinochoroidal atrophy associated with pathogenic variant in HK1 gene.
Oku K et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2026
Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.
Lieviant JA et al.
European Journal of Human Genetics : Ejhg, 2025
Genotypic and Phenotypic Characterization of Hexokinase 1 p.Glu847Lys Variant Causing Autosomal Dominant Pericentral Retinitis Pigmentosa.
Fan KC et al.
Ophthalmic Surgery, Lasers & Imaging Retina, 2025
Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder.
Ng BG et al.
Genetics in Medicine Open, 2025
Clinical report and genetic analysis of a Chinese family with retinitis pigmentosa 79 caused by a novel loss-of-function HK1 variant.
Luo X et al.
Genes & Genomics, 2024
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort.
Maggi J et al.
International Journal of Molecular Sciences, 2024
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants.
Wortmann SB et al.
Neurology. Genetics, 2024
Expanding the Molecular Spectrum of HK1-Related Charcot-Marie-Tooth Disease, Type 4G; the First Report in Iran.
Goleyjani Moghadam M et al.
Archives of Iranian Medicine, 2023
Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variants.
Poole RL et al.
European Journal of Medical Genetics, 2023
Genetic Diagnosis for 64 Patients with Inherited Retinal Disease.
Lynn J et al.
Genes, 2022
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
Genetic dissection of non-syndromic retinitis pigmentosa.
Bhardwaj A et al.
Indian Journal of Ophthalmology, 2022
High-resolution photoreceptor imaging analysis of patients with autosomal dominant retinitis pigmentosa (adRP) caused by HK1 mutation.
Kubota D et al.
Ophthalmic Genetics, 2020
Eleven-year follow-up of a Japanese retinitis pigmentosa patient with an HK1 gene mutation.
Sato S et al.
Ophthalmic Genetics, 2019
De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment.
Okur V et al.
European Journal of Human Genetics : Ejhg, 2019
Molecular Findings in Families with an Initial Diagnose of Autosomal Dominant Retinitis Pigmentosa (adRP).
Daiger SP et al.
Advances in Experimental Medicine and Biology, 2018
The phenotypic variability of HK1-associated retinal dystrophy.
Yuan Z et al.
Scientific Reports, 2017
Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP).
Daiger SP et al.
Advances in Experimental Medicine and Biology, 2016
Hexokinase 1 and retinitis pigmentosa: insights into the retina and the molecule.
Hejtmancik JF
Investigative Ophthalmology & Visual Science, 2014
A missense mutation in HK1 leads to autosomal dominant retinitis pigmentosa.
Wang F et al.
Investigative Ophthalmology & Visual Science, 2014
Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa.
Daiger SP et al.
Cold Spring Harbor Perspectives in Medicine, 2014
A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa.
Sullivan LS et al.
Investigative Ophthalmology & Visual Science, 2014
Two Japanese Families with Pigmented Paravenous Retinochoroidal Atrophy and HK1 Mutation: A Case Report.
Sato S et al.
Case Reports in Ophthalmology, 0