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Familial posterior column ataxia (Biemond's) with scoliosis.
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[Spinal-cerebellar degeneration].
56
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BIEMOND A
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3 |
Expression and purification of the heme exporter FLVCR1a.
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Hereditary Ataxia: A Focus on Heme Metabolism and Fe-S Cluster Biogenesis.
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Posterior column ataxia with retinitis pigmentosa (PCARP) in an Iranian patient associated with the FLVCR1 gene.
61
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6 |
Phenotypic spectrum of autosomal recessive retinitis pigmentosa without posterior column ataxia caused by mutations in the FLVCR1 gene.
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A Novel FLVCR1 Variant Implicated in Retinitis Pigmentosa.
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8 |
Clinical and imaging characteristics of posterior column ataxia with retinitis pigmentosa with a specific FLVCR1 mutation.
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2018 |
9 |
Potential Treatment of Retinal Diseases with Iron Chelators.
61
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10 |
A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia.
61
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11 |
Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation.
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Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception.
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13 |
Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene.
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14 |
Heme and FLVCR-related transporter families SLC48 and SLC49.
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[Present efforts in the medical genome center at the University of Tokyo Hospital].
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16 |
Mutations of FLVCR1 in posterior column ataxia and retinitis pigmentosa result in the loss of heme export activity.
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17 |
[Next-generation analysis on hereditary neurodegenerative disorders using next-generation sequencers].
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18 |
Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1.
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2011 |
19 |
Unraveling the genetic and molecular basis of posterior column ataxia and retinitis pigmentosa.
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2011 |
20 |
Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa.
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21 |
A novel neurodegenerative disease characterised by posterior column ataxia and pyramidal tract involvement maps to chromosome 8p12-8q12.1.
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22 |
Isolation of a novel iris-specific and leucine-rich repeat protein (oculoglycan) using differential selection.
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23 |
Posterior column ataxia and retinitis pigmentosa: a distinct clinical and genetic disorder.
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24 |
[A case with posterior column ataxia associated with cerebellar ataxia and sensory neuropathy].
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25 |
Posterior column ataxia with retinitis pigmentosa (AXPC1) maps to chromosome 1q31-q32.
61
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Higgins JJ...Loveless JM
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1999 |
26 |
Autosomal recessive posterior column ataxia and retinitis pigmentosa.
61
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27 |
An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa.
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