Associated Papers
A Novel Exon Duplication in the SACS Gene in Charlevoix-Saguenay Ataxia and a Summary of Polish Cases.
Fichna JP et al.
The Application of Clinical Genetics, 2025
Application of a custom NGS gene panel revealed a high diagnostic utility for molecular testing of hereditary ataxias.
Radziwonik W et al.
Journal of Applied Genetics, 2022
Novel mutation in a patient with Charlevoix-Saguenay ataxia-a very rare disease with classical symptoms.
Klimkowicz-Mrowiec A et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
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