Extending the phenotype of posterior column ataxia with retinitis pigmentosa caused by variants in FLVCR1
Author:
Affiliation:
1. Department of Neurology Cork University Hospital Cork Ireland
2. College of Medicine and Health University College Cork Cork Ireland
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62612
Reference19 articles.
1. Posterior column ataxia with retinitis pigmentosa (PCARP) in an Iranian patient associated with the FLVCR1 gene;Beigi F.;Ophthalmic Genetics,2020
2. Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221SerFLVCR1mutation
3. Mutations in the Heme exporter FLVCR1 cause sensory Neurodegeneration with loss of pain;Chiabrando D.;Perception,2016
4. A novel FLVCR1 variant implicated in retinitis Pigmentosa;Dockery A.;Advances in Experimental Medicine and Biology,2019
5. Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies
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1. Unearthing FLVCR1a: tracing the path to a vital cellular transporter;Cellular and Molecular Life Sciences;2024-04-06
2. Biallelic variation in the choline and ethanolamine transporterFLVCR1underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders;2024-02-13
3. Novel mutations in FLVCR1 cause tremors, sensory neuropathy with retinitis pigmentosa;Neuropathology;2023-07-19
4. Integrative genetic analysis identifies FLVCR1 as a plasma-membrane choline transporter in mammals;Cell Metabolism;2023-06
5. Integrative genetic analysis identifies FLVCR1 as an essential component of choline transport in mammals;2022-10-05
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