Autosomal recessive posterior column ataxia and retinitis pigmentosa

Neurology ◽  
1998 ◽  
Vol 51 (6) ◽  
pp. 1772-1773 ◽  
Author(s):  
J. Berciano ◽  
J. M. Polo
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Posterior Column

Massively parallel sequence analysis reveals the causative gene of an autosomal recessive neurodegenerative disorder, posterior column ataxia with retinitis pigmentosa

2011 ◽  
Vol 71 ◽  
pp. e292
Author(s):  
Hiroyuki Ishiura ◽  
Yoko Fukuda ◽  
Jun Mitsui ◽  
Yasuo Nakahara ◽  
Budrul Ahsan ◽  
...  
Keyword(s):  
Sequence Analysis ◽  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Neurodegenerative Disorder ◽  
Posterior Column ◽  
Massively Parallel ◽  
Causative Gene

An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa

Neurology ◽  
1997 ◽  
Vol 49 (6) ◽  
pp. 1717-1720 ◽  
Author(s):  
J. J. Higgins ◽  
D. H. Morton ◽  
N. Patronas ◽  
L. E. Nee
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Posterior Column

Autosomal recessive posterior column ataxia and retinitis pigmentosa

Neurology ◽  
1998 ◽  
Vol 51 (6) ◽  
pp. 1773-1773
Author(s):  
J. J. Higgins
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Posterior Column

Phenotypic spectrum of autosomal recessive retinitis pigmentosa without posterior column ataxia caused by mutations in the FLVCR1 gene

2019 ◽  
Vol 257 (3) ◽  
pp. 629-638 ◽  
Author(s):  
Laura Kuehlewein ◽  
Ludger Schöls ◽  
Pablo Llavona ◽  
Alexander Grimm ◽  
Saskia Biskup ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Posterior Column ◽  
Phenotypic Spectrum

Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in theFLVCR1gene

2014 ◽  
Vol 125 (1) ◽  
pp. 43-49 ◽  
Author(s):  
Aziz Shaibani ◽  
Lee-Jun Wong ◽  
Victor Wei Zhang ◽  
Richard Alan Lewis ◽  
Marwan Shinawi
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Posterior Column ◽  
Novel Mutations

Clinical spectrum, genetic associations and management outcomes of Coats-like exudative retinal vasculopathy in autosomal recessive retinitis pigmentosa

2021 ◽  
pp. 1-8
Author(s):  
Moustafa Magliyah ◽  
Abdulaziz A. Alshamrani ◽  
Patrik Schatz ◽  
Ibrahim Taskintuna ◽  
Yahya Alzahrani ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Clinical Spectrum ◽  
Genetic Associations

scholarly journals Mutations in FLVCR1 Cause Posterior Column Ataxia and Retinitis Pigmentosa

2010 ◽  
Vol 87 (5) ◽  
pp. 643-654 ◽  
Author(s):  
Anjali M. Rajadhyaksha ◽  
Olivier Elemento ◽  
Erik G. Puffenberger ◽  
Kathryn C. Schierberl ◽  
Jenny Z. Xiang ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Posterior Column

scholarly journals A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33.

1998 ◽  
Vol 35 (2) ◽  
pp. 141-145 ◽  
Author(s):  
M Bayes ◽  
B Goldaracena ◽  
A Martinez-Mir ◽  
M I Iragui-Madoz ◽  
T Solans ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive

scholarly journals Autosomal Recessive Retinitis Pigmentosa Caused by Mutations in theMAKGene

2011 ◽  
Vol 52 (13) ◽  
pp. 9665 ◽  
Author(s):  
Edwin M. Stone ◽  
Xunda Luo ◽  
Elise Héon ◽  
Byron L. Lam ◽  
Richard G. Weleber ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive
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