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Open access Sep 2026

Clinical and multi-omics characterisation of early neurodevelopmental disorders associated with critical congenital heart disease: the prospective cohort CATAMARAN neonatal study protocol

This study aims to evaluate early neurodevelopmental status in infants with prenatally diagnosed critical CHD and to determine how intrinsic susceptibility, prenatal and postnatal factors are functionally associated with developmental delay in this population.

Oscar Werner, Véronique Ferchaud-Roucher, Matilde Karakachoff et al. · 0 citations
Open access Aug 2026

Desmin p.R406W mutation is associated with arrhythmias through structural and electrophysiological remodeling

Background and Aims Mutations in the desmin (DES) gene cause a variety of cardiomyopathies associated with arrhythmias, yet the electrophysiological consequences of these variants remain largely uncharacterized. The aim of this study was to investigate the pathogenic mechanisms of the de novo DES p.R406W variant, which...

M. Geryk, T. Stervinou, Martin Bouaud et al. · 0 citations

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