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Author

Maurizio Genuardi

2 papers indexed here

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Review Open access Oct 2026

Clinical and Genetic Characterization of a Family with Tooth Agenesis Carrying a Novel LEF1 Variant

Background: Tooth agenesis is one of the most common developmental anomalies of the human dentition and may occur either as an isolated trait or as part of a syndromic condition. Advances in genomic technologies have facilitated the identification of genes involved in odontogenesis, including LEF1 (Lymphoid Enhancer-Bi...

Ludovica Fortuna, Roberto Bertozzi, V. Trevisan et al. · 0 citations
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

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