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Author

Pietro Chiurazzi

2 papers indexed here

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Open access Oct 2026

Mitochondrial Remodeling and Impaired Bioenergetics Define Neuronal Vulnerability in Fragile X-Related Disorders

Fragile X syndrome (FXS) and related conditions associated with FMR1 gene alterations have increasingly been linked to mitochondrial dysfunction, although most available evidence derives from peripheral cell models. Whether these abnormalities also occur in disease-relevant neuronal populations remains largely unknown....

B. Niccolini, Martina Grandi, Veronica Nobile et al. · 0 citations
Open access Aug 2026

Mathematical Model to Assess Mutational Burden in Retinal Dystrophy Patients Negative to Mendelian Genetic Tests and Carriers of Multiple Recessive Variants

A preliminary mathematical model is proposed that can identify unique digenic or oligogenic combinations of involved genes, suggesting possible new digenic or oligogenic inheritance patterns in patients with retinal dystrophies and previous negative genetic test results.

M. Medori, A. Macchia, P. Maltese et al. · 0 citations

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