Associated Papers
Novel mutations in FLVCR1 cause tremors, sensory neuropathy with retinitis pigmentosa.
Li Z et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2024
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders.
Calame DG et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Mfsd7b facilitates choline transport and missense mutations affect choline transport function.
Ha HTT et al.
Cellular and Molecular Life Sciences : Cmls, 2023
Extending the phenotype of posterior column ataxia with retinitis pigmentosa caused by variants in FLVCR1.
Vaughan DP et al.
American Journal of Medical Genetics. Part A, 2022
Clinical and Genetic Re-Evaluation of Inherited Retinal Degeneration Pedigrees following Initial Negative Findings on Panel-Based Next Generation Sequencing.
Stephenson KAJ et al.
International Journal of Molecular Sciences, 2022
Findings from a Genotyping Study of Over 1000 People with Inherited Retinal Disorders in Ireland.
Whelan L et al.
Genes, 2020
A Novel FLVCR1 Variant Implicated in Retinitis Pigmentosa.
Dockery A et al.
Advances in Experimental Medicine and Biology, 2019
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