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Author

A. Sapuppo

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Review Open access Aug 2026

Neuropsychological functioning and quality of life in congenital myopathies: a systematic review of children and caregiver outcomes

Neuropsychological and psychosocial outcomes in pediatric CMs are clinically relevant but understudied and heterogeneous across genotypes, and standardized, motor-adapted assessment should be integrated into multidisciplinary care.

S. Rinella, Gennaro Anastasio, A. Sapuppo et al. · 0 citations
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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