The ARSACS phenotype can include supranuclear gaze palsy and skin lipofuscin deposits-Reference-Cited by-同舟云学术

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The ARSACS phenotype can include supranuclear gaze palsy and skin lipofuscin deposits

Published:2012-11-03 Issue:1 Volume:84 Page:114-116
ISSN:0022-3050
Container-title:Journal of Neurology, Neurosurgery & Psychiatry
language:en
Short-container-title:J Neurol Neurosurg Psychiatry

Author:

Stevens James C,Murphy Sinéad M,Davagnanam Indran,Phadke Rahul,Anderson Glenn,Nethisinghe Suran,Bremner Fion,Giunti Paola,Reilly Mary M

Publisher

BMJ

Subject

Psychiatry and Mental health,Neurology (clinical),Surgery

Cited by 19 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Proteomics and lipidomic analysis reveal dysregulated pathways associated with loss of sacsin;Frontiers in Neuroscience;2024-06-07

2. Subcellular, biochemical and biophysical alterations in two glial cell models of ARSACS;2024-04-15

3. Autosomal recessive cerebellar ataxias: a diagnostic classification approach according to ocular features;Frontiers in Integrative Neuroscience;2024-02-07

4. Insights into SACS pathological attributes in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)☆;Current Opinion in Chemical Biology;2022-12

5. Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix–Saguenay to develop patient-reported outcome;Orphanet Journal of Rare Diseases;2022-10-01

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