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Author

R. Falsaperla

2 papers indexed here

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Case report Aug 2026

The recurrent SACS gene p.Arg272His hotspot expands the neurodevelopmental and cognitive spectrum of ARSACS

This case adds longitudinal clinical, neuroimaging, ophthalmological, and neuropsychological data to the limited literature on patients carrying the p.Arg272His variant, supporting further investigation of genotype–phenotype relationships in ARSACS.

Vincenzo Sortino, A. Sapuppo, Anastasia Bernabini et al. · 0 citations

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