Author

Eduard Serra

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Open access Aug 2026

NF2 lacking exon 11 induced by antisense gene therapy is able to partially recover merlin deficiency in NF2-SWN iPSC-derived spheroid model

NF2-related schwannomatosis (NF2-SWN) is an inherited autosomal dominant disorder resulting from loss-of-function mutations in the NF2 gene, for which no effective treatment is currently available. Furthermore, truncating variants in NF2 are associated with the severest phenotype compared to in-frame or missense varian...

Gemma Casals-Sendra, Ignasi Jarne-Sanz, N. Catasús et al. · Molecular Therapy: Nucleic A... · 0 citations

Open access Aug 2026

Cherry Angiomas in Individuals With Neurofibromatosis Type 1.

The results of this cross-sectional study suggest that CAs represent a frequent and previously unrecognized vascular manifestation of NF1, which is supported by epidemiological enrichment and mechanistic evidence of biallelic NF1 inactivation in vascular cells.

L. Fertitta, É. Pasmant, C. Bergqvist et al. · JAMA dermatology · 0 citations