Emilio Amilibia - Publications

Cognitive function in adult NF1 patients without other cognitive disorders: a cross-sectional study.

Journal: Orphanet journal of rare diseases

Published: February 02, 2026

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

Journal: Molecular therapy. Nucleic acids

Published: November 19, 2025

iPSC-based merlin-deficient Schwann cell-like spheroids as an in vitro system for studying NF2 pathogenesis.

Journal: Genes & diseases

Published: July 24, 2024

The vestibular calyceal junction is dismantled following subchronic streptomycin in rats and sensory epithelium stress in humans.

Journal: Archives of toxicology

Published: May 02, 2023

CT Assessment of Otic Capsule Bone Density in Paget's Disease of the Temporal Bone and Its Relationship With Hearing Loss.

Journal: Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology

Published: March 12, 2021

Diagnostic Accuracy of Intracochlear Test Electrode for Acoustic Nerve Monitoring in Vestibular Schwannoma Surgery.

Journal: Ear and hearing

Published: November 02, 2020

Revisiting the UK Genetic Severity Score for NF2: a proposal for the addition of a functional genetic component.

Journal: Journal of medical genetics

Published: October 28, 2020

Early Genetic Diagnosis of Neurofibromatosis Type 2 From Skin Plaque Plexiform Schwannomas in Childhood.

Journal: JAMA dermatology

Published: January 12, 2018