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Familial posterior column ataxia (Biemond's) with scoliosis.
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56
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Singh N...Roy S
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4761598 |
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| 2 |
[Spinal-cerebellar degeneration].
56
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BIEMOND A
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14872985 |
1951 |
| 3 |
Posterior column ataxia with retinitis pigmentosa (PCARP) in an Iranian patient associated with the FLVCR1 gene.
61
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Beigi F...Ghasemi N
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32039643 |
2020 |
| 4 |
Phenotypic spectrum of autosomal recessive retinitis pigmentosa without posterior column ataxia caused by mutations in the FLVCR1 gene.
61
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Kuehlewein L...Kohl S
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30656474 |
2019 |
| 5 |
A Novel FLVCR1 Variant Implicated in Retinitis Pigmentosa.
61
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Dockery A...Farrar GJ
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31884612 |
2019 |
| 6 |
Clinical and imaging characteristics of posterior column ataxia with retinitis pigmentosa with a specific FLVCR1 mutation.
61
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Lee J...Nischal KK
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30444160 |
2018 |
| 7 |
Potential Treatment of Retinal Diseases with Iron Chelators.
61
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Shu W...Dunaief JL
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30360383 |
2018 |
| 8 |
A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia.
61
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Yusuf IH...MacLaren RE
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29192808 |
2018 |
| 9 |
Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation.
61
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Castori M...Chiabrando D
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28766925 |
2017 |
| 10 |
Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception.
61
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Chiabrando D...Kurth I
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27923065 |
2016 |
| 11 |
Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene.
61
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Shaibani A...Shinawi M
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24628582 |
2015 |
| 12 |
Heme and FLVCR-related transporter families SLC48 and SLC49.
61
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Khan AA...Quigley JG
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23506900 |
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| 13 |
[Present efforts in the medical genome center at the University of Tokyo Hospital].
61
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Mitsui J...Tsuji S
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23475516 |
2013 |
| 14 |
Mutations of FLVCR1 in posterior column ataxia and retinitis pigmentosa result in the loss of heme export activity.
61
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Yanatori I...Kishi F
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22483575 |
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| 15 |
[Next-generation analysis on hereditary neurodegenerative disorders using next-generation sequencers].
61
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Ishiura H...Tsuji S
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22277444 |
2011 |
| 16 |
Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1.
61
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Ishiura H...Tsuji S
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21267618 |
2011 |
| 17 |
Unraveling the genetic and molecular basis of posterior column ataxia and retinitis pigmentosa.
61
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Sutton LM
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21261601 |
2011 |
| 18 |
Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa.
61
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Rajadhyaksha AM...Higgins JJ
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21070897 |
2010 |
| 19 |
A novel neurodegenerative disease characterised by posterior column ataxia and pyramidal tract involvement maps to chromosome 8p12-8q12.1.
61
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Valdmanis PN...Dupre N
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15286160 |
2004 |
| 20 |
Isolation of a novel iris-specific and leucine-rich repeat protein (oculoglycan) using differential selection.
61
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Friedman JS...Walter MA
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10892843 |
2000 |
| 21 |
Posterior column ataxia and retinitis pigmentosa: a distinct clinical and genetic disorder.
61
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Higgins JJ...Loveless JM
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10830426 |
2000 |
| 22 |
[A case with posterior column ataxia associated with cerebellar ataxia and sensory neuropathy].
61
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Kikuchi Y...Satoyoshi E
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10614159 |
1999 |
| 23 |
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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9921862 |
1999 |
| 24 |
Autosomal recessive posterior column ataxia and retinitis pigmentosa.
61
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Berciano J...Polo JM
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9855554 |
1998 |
| 25 |
An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa.
61
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1997 |
