Inner retinal dysfunction in the autosomal recessive spastic ataxia of Charlevoix-Saguenay
10.3389/fneur.2017.00523
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sg-nus-scholar.10635-1781382024-04-12T05:48:03Z Inner retinal dysfunction in the autosomal recessive spastic ataxia of Charlevoix-Saguenay Borruat, F.-X Holder, G.E Bremner, F OPHTHALMOLOGY adult Article ataxic gait autosomal recessive disorder autosomal recessive spastic ataxia of Charlevoix Saguenay case report cerebellum atrophy cerebellum vermis clinical article dysarthria dysmetria electroretinography eye photography gene gene deletion hereditary ataxia homozygosity human keratoconus male nuclear magnetic resonance imaging optical coherence tomography retina bipolar ganglion cell retina disease SACS gene spastic gait spastic paraplegia spinocerebellar degeneration visual impairment young adult 10.3389/fneur.2017.00523 Frontiers in Neurology 8 OCT 523 2020-10-20T05:14:22Z 2020-10-20T05:14:22Z 2017 Article Borruat, F.-X, Holder, G.E, Bremner, F (2017). Inner retinal dysfunction in the autosomal recessive spastic ataxia of Charlevoix-Saguenay. Frontiers in Neurology 8 (OCT) : 523. ScholarBank@NUS Repository. https://doi.org/10.3389/fneur.2017.00523 16642295 https://scholarbank.nus.edu.sg/handle/10635/178138 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ Unpaywall 20201031 |
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adult Article ataxic gait autosomal recessive disorder autosomal recessive spastic ataxia of Charlevoix Saguenay case report cerebellum atrophy cerebellum vermis clinical article dysarthria dysmetria electroretinography eye photography gene gene deletion hereditary ataxia homozygosity human keratoconus male nuclear magnetic resonance imaging optical coherence tomography retina bipolar ganglion cell retina disease SACS gene spastic gait spastic paraplegia spinocerebellar degeneration visual impairment young adult |
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adult Article ataxic gait autosomal recessive disorder autosomal recessive spastic ataxia of Charlevoix Saguenay case report cerebellum atrophy cerebellum vermis clinical article dysarthria dysmetria electroretinography eye photography gene gene deletion hereditary ataxia homozygosity human keratoconus male nuclear magnetic resonance imaging optical coherence tomography retina bipolar ganglion cell retina disease SACS gene spastic gait spastic paraplegia spinocerebellar degeneration visual impairment young adult Borruat, F.-X Holder, G.E Bremner, F Inner retinal dysfunction in the autosomal recessive spastic ataxia of Charlevoix-Saguenay |
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10.3389/fneur.2017.00523 |
author2 |
OPHTHALMOLOGY |
author_facet |
OPHTHALMOLOGY Borruat, F.-X Holder, G.E Bremner, F |
format |
Article |
author |
Borruat, F.-X Holder, G.E Bremner, F |
author_sort |
Borruat, F.-X |
title |
Inner retinal dysfunction in the autosomal recessive spastic ataxia of Charlevoix-Saguenay |
title_short |
Inner retinal dysfunction in the autosomal recessive spastic ataxia of Charlevoix-Saguenay |
title_full |
Inner retinal dysfunction in the autosomal recessive spastic ataxia of Charlevoix-Saguenay |
title_fullStr |
Inner retinal dysfunction in the autosomal recessive spastic ataxia of Charlevoix-Saguenay |
title_full_unstemmed |
Inner retinal dysfunction in the autosomal recessive spastic ataxia of Charlevoix-Saguenay |
title_sort |
inner retinal dysfunction in the autosomal recessive spastic ataxia of charlevoix-saguenay |
publishDate |
2020 |
url |
https://scholarbank.nus.edu.sg/handle/10635/178138 |
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1800914478827569152 |