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G. Bargiacchi

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Open access Sep 2026

Association Between Toe Walking and Repetitive Behaviors in Children with Autism Spectrum Disorder: A Cross-Sectional Phenotypic Analysis

Background and Objectives: Toe walking (TW) is frequently observed in children with Autism Spectrum Disorder (ASD), yet its clinical significance remains incompletely understood. While previous studies have linked TW to ASD severity and multisystem involvement, its relationship with the behavioral phenotype of repetiti...

M. Gnazzo, G. Bargiacchi, B. Gallai 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

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