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
38405817 (PubMed )
Supplement: media-2.xlsx › Previously_published_families
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.
AlAbdi L et al.
Genome Medicine, 2023
Mfsd7b facilitates choline transport and missense mutations affect choline transport function.
Ha HTT et al.
Cellular and Molecular Life Sciences : Cmls, 2023
Hereditary Ataxia: A Focus on Heme Metabolism and Fe-S Cluster Biogenesis.
Chiabrando D et al.
International Journal of Molecular Sciences, 2020
A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia.
Yusuf IH et al.
Ophthalmic Genetics, 2018
Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene.
Shaibani A et al.
The International Journal of Neuroscience, 2015
Select a paper to view details