Author

C. Cristalli

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Open access Jul 2026

Clinical, Transcriptional and Haplotype Characterization of Recurrent MYBPC3 Splice-Site Variants c.1458-1G>A and c.3331-1G>A Associated with Hypertrophic Cardiomyopathy in Northern Italy

Two recurrent canonical splice-site variants identified in patients with HCM from the Emilia-Romagna region of Northern Italy represent novel founder alleles associated with HCM in Northern Italy, and identification improves molecular diagnosis, family screening, and supports the development of variant-targeted therape...

C. Cristalli, M. Schiavo, M. R. S. Foti et al. · Genes · 0 citations

Case report Open access Aug 2026

Phenotypic and Molecular Features of a Large ODDD Family: Expanding the Spectrum of CX43-Related Disorder

This case highlights the wide phenotypic spectrum of CX43-related disorders and suggests the importance of testing the GJA1 gene in individuals with atypical presentations, including predominant or isolated neurological phenotypes such as late-onset spastic paraplegia.

Irene Ambrosetti, F. Palombo, Diego D'Angeli et al. · International Journal of Mol... · 0 citations