Emilio Amilibia

This study shows that antisense gene therapy using PMOs can induce exon 11 skipping in NF2-deficient Schwann cells, partially restoring merlin function and key pathways in a spheroid model of NF2-SWN.

This study links vestibular function loss in vestibular schwannoma patients to sensory epithelium pathology, including reduced hair cell counts and calyx damage.

This paper creates a 3D epigenomic roadmap of human B-cell differentiation, revealing regulatory mechanisms in immunity and cancer.

The paper shows that vestibular calyceal junction dismantlement occurs in rats with streptomycin-induced ototoxicity and in human sensory epithelia under stress, preceding hair cell loss.

The paper validates the UK NF2 Genetic Severity Score in a Spanish cohort and proposes a revised version incorporating functional assays to improve prediction of clinical outcomes for mild and moderate phenotypes.