Author

E. Trevisson

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Review Open access Sep 2026

Management of plexiform neurofibromas in neurofibromatosis type 1: An Italian Delphi consensus

An evidence-informed and clinically oriented framework for management of NF1-associated PNs is provided, complementary to existing international recommendations, and offers practical guidance in areas where evidence remains limited.

C. Santoro, E. Arkhangelskaya, Ambra Bonvicino et al. · Neurological Sciences · 0 citations

Case report Open access Jan 2026

Expanding the Recessive Spectrum of Dilated Cardiomyopathy: RNA‐Level Validation of a Homozygous CTNNA3 Splice‐Site Variant

Evidence is provided that biallelic CTNNA3 splice‐disrupting variants can cause human cardiomyopathy driven by ICD dysfunction, and the dissociation between ventricular recovery and persistent arrhythmia highlights the complex phenotypic spectrum of CTNNA3‐related disease.

Stefania Martino, Mara Doimo, M. Iacoviello et al. · Human Mutation · 0 citations