Area of research
Surgery · Cellular and Molecular Neuroscience
Research interest
Research focused on Genetics and Multiple endocrine neoplasia, with related work in MEN1, Retinitis pigmentosa, Primary ciliary dyskinesia. Notable publications include 'A Novel Mutation in the Upstream Open Reading Frame of the CDKN1B Gene Causes a MEN4 Phenotype', 'Multiple endocrine neoplasia syndrome type 1: institution, management, and data analysis of a nationwide multicenter patient database', and 'Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca 2+ signalling'.
Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene
Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene
Multiple endocrine neoplasia type 1: analysis of germline MEN1 mutations in the Italian multicenter MEN1 patient database
Multiple endocrine neoplasia syndrome type 1: institution, management, and data analysis of a nationwide multicenter patient database
Loss-of-function mutations in the<i>SIGMAR1</i>gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca<sup>2+</sup>signalling
Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel
Von Hippel-Lindau disease: an evaluation of natural history and functional disability
A Novel Mutation in the Upstream Open Reading Frame of the CDKN1B Gene Causes a MEN4 Phenotype