Disease: Posterior column ataxia with retinitis pigmentosa
- A Novel FLVCR1 Variant Implicated in Retinitis Pigmentosa
- A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia
- An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa
- Autosomal recessive posterior column ataxia and retinitis pigmentosa
- Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene
- Clinical and imaging characteristics of posterior column ataxia with retinitis pigmentosa with a specific FLVCR1 mutation
- Clinical, hematological, and imaging observations in a 25-year-old woman with abetalipoproteinemia
- Expression and purification of the heme exporter FLVCR1a
- Extending the phenotype of posterior column ataxia with retinitis pigmentosa caused by variants in FLVCR1
- FLVCR1-related disease as a rare cause of retinitis pigmentosa and hereditary sensory autonomic neuropathy
- Heme and FLVCR-related transporter families SLC48 and SLC49
- Hereditary Ataxia: A Focus on Heme Metabolism and Fe-S Cluster Biogenesis
- Isolation of a novel iris-specific and leucine-rich repeat protein (oculoglycan) using differential selection
- Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa
- Mutations of FLVCR1 in posterior column ataxia and retinitis pigmentosa result in the loss of heme export activity
- Next-generation analysis on hereditary neurodegenerative disorders using next-generation sequencers
- Phenotypic spectrum of autosomal recessive retinitis pigmentosa without posterior column ataxia caused by mutations in the FLVCR1 gene
- Posterior column ataxia and retinitis pigmentosa: a distinct clinical and genetic disorder
- Posterior column ataxia with retinitis pigmentosa (AXPC1) maps to chromosome 1q31-q32
- Posterior column ataxia with retinitis pigmentosa (PCARP) in an Iranian patient associated with the <em>FLVCR1</em> gene
- Posterior column ataxia with retinitis pigmentosa (PCARP) in an Iranian patient associated with the FLVCR1 gene
- Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation
- Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1
- Postmortem study of ataxia with retinitis pigmentosa by mutation of the alpha-tocopherol transfer protein gene
- Potential Treatment of Retinal Diseases with Iron Chelators
- Present efforts in the medical genome center at the University of Tokyo Hospital
- Unraveling the genetic and molecular basis of posterior column ataxia and retinitis pigmentosa