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Vera Tadic results 2 · Newest (Page 1/1, per page 25)
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The Cerebellum · 2026 · Vol. 25 · Issue 2 · Springer
Biallelic KIF1C variants are associated with a spectrum of neurological phenotypes, including spasticity, cerebellar ataxia, chorea, and dystonia. Most reported patients involve single-nucleotide variants, whereas copy number variants (CNVs) have been described only once in the PubMed-listed literature. The therapeutic potential of deep-brain stimulation (DBS) in KIF1C -related disease has not yet been evaluated. We report a p...