Structural Basis of Defects in the Sacsin HEPN Domain Responsible for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)

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• High-Throughput Screening for Ligands of the HEPN Domain of Sacsin
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• Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay
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• SACS mutation-positive autosomal recessive spastic ataxia of charlevoix saguenay (ARSACS) from Kerala
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• Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum
  Bằng: Synofzik, Matthis, et al.
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