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spinocerebellar ataxia 1
(gene)
Summary
General Info
Body Atlas
Most Correlated Tissues
Putamen
Caudate
Endometrium
T Lymphocyte (regulatory) of peripheral blood
Frontal lobe
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Curated Studies
Most Correlated Studies
OMIM - Ataxia
Neurons from iPSCs generated from dermal fibroblasts/PBMCs of spinocerebellar ataxia 2 and 3 patient
Cerebellum and forbrain from ataxin-1 mutant mice
Lymphocytes of Friedreich's ataxia patients treated with nicotinamide
OMIM - Congenital disorder
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Literature
Most Relevant Literature
Generation of induced pluripotent stem cell(iPSC)line CJUHi001-A derived peripheral blood mononuclea…
Disruption of the ATXN1-CIC complex reveals the role of additional nuclear ATXN1 interactors in spin…
Reduction of mutant ATXN1 rescues premature death in a conditional SCA1 mouse model.
Indirect Negative Effect of Mutant Ataxin-1 on Short- and Long-Term Synaptic Plasticity in Mouse Mod…
Toward the design and development of peptidomimetic inhibitors of the Ataxin-1 aggregation pathway.
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Clinical Trials
Most Relevant Clinical Trials
Dalfampridine and Gait in Spinocerebellar Ataxias
Functional and Structural Imaging and Motor Control in Spinocerebellar Ataxia
Study of CAD-1883 for Spinocerebellar Ataxia
Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias
Measuring Neurological Impairment and Functional Visual Assessment In Spinocerebellar Ataxias
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