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Author

G. Di Pasquale

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Open access Aug 2026

Acute viral bronchiolitis before and after implementation of nirsevimab prophylaxis in Italy: a multicentre retrospective cohort study

Summary Background Acute viral bronchiolitis is the leading cause of hospitalisation in the first year of life, with Respiratory Syncytial Virus (RSV) accounting for more than 60% of cases. A long-acting monoclonal antibody (nirsevimab) has been introduced for infants entering their first epidemic season. 2024–2025 sea...

M. Spatuzzo, Antonio Corsello, M. Riccò et al. · 1 citation · ⚡1
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
Open access Jul 2026

Expanding clinical variability in FBXW7-related neurodevelopmental disorder: a multicenter case series

A retrospective multicenter case series of seven previously unreported individuals with heterozygous FBXW7 variants identified through clinical genetic testing expands the phenotypic spectrum associated with FBXW7-related neurodevelopmental disorder and highlights variable expressivity and incomplete penetrance.

Salvatore Savasta, F. Comisi, G. Dell’Isola et al. · 0 citations
Review Open access Aug 2026

PPP1R21-Related neurodevelopmental disorder: Phenotypic delineation, variant spectrum, and pathophysiological mechanisms

PPP1R21-related neurodevelopmental disorder (PPP1R21-NDD) is an ultra-rare autosomal-recessive encephalopathy caused by dysfunction of the Five-subunit Endosomal Rab5 and RNA/ribosome intermediarY (FERRY) complex. To delineate the clinical, neuroimaging, and molecular spectrum of PPP1R21-NDD and outline diagnostic and...

F. Comisi, G. Di Pasquale, A. Comisi et al. · 0 citations

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