1 |
A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia. ( 29192808
)
|
|
2018 |
2 |
Clinical and imaging characteristics of posterior column ataxia with retinitis pigmentosa with a specific FLVCR1 mutation. ( 30444160
)
|
Lee J...Nischal KK
|
2018 |
3 |
Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation. ( 28766925
)
|
Castori M....Chiabrando D.
|
2017 |
4 |
Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene. ( 24628582
)
|
Shaibani A....Shinawi M.
|
2014 |
5 |
Mutations of FLVCR1 in posterior column ataxia and retinitis pigmentosa result in the loss of heme export activity. ( 22483575
)
|
|
2012 |
6 |
Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1. ( 21267618
)
|
Ishiura H....Tsuji S.
|
2011 |
7 |
Unraveling the genetic and molecular basis of posterior column ataxia and retinitis pigmentosa. ( 21261601
)
|
|
2011 |
8 |
Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa. ( 21070897
)
|
Rajadhyaksha A.M....Higgins J.J.
|
2010 |
9 |
A novel neurodegenerative disease characterised by posterior column ataxia and pyramidal tract involvement maps to chromosome 8p12-8q12.1. ( 15286160
)
|
Valdmanis P.N....DuprAc N.
|
2004 |
10 |
Posterior column ataxia and retinitis pigmentosa: a distinct clinical and genetic disorder. ( 10830426
)
|
Higgins J.J....Loveless J.M.
|
2000 |
11 |
[A case with posterior column ataxia associated with cerebellar ataxia and sensory neuropathy]. ( 10614159
)
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Kikuchi Y....Satoyoshi E.
|
1999 |
12 |
Posterior column ataxia with retinitis pigmentosa (AXPC1) maps to chromosome 1q31-q32. ( 9921862
)
|
|
1999 |
13 |
Autosomal recessive posterior column ataxia and retinitis pigmentosa. ( 9855554
)
|
Berciano J....Polo J.M.
|
1998 |
14 |
An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa. ( 9409377
)
|
Higgins J.J....Nee L.E.
|
1997 |
15 |
Familial posterior column ataxia (Biemond's) with scoliosis. ( 4761598
)
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|
1973 |