Vito Luigi Colona

8PUBLICATIONS
35CO-AUTHORS
Developmental genetics (incl. sex determination)Haematological tumoursNeurogeneticsNeurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)
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Publications (8)

|Dec 28, 2025
Spinocerebellar ataxia, autosomal recessive type 23 (SCAR23) with compound TDP2 variants: clinical, molecular, and quantitative follow-up.

Vito Luigi Colona, Viola Ceccatelli, Alessandra Terracciano

|Dec 26, 2025
Modelling severe COVID-19 in TLR3-mutated hiPSCs-derived lung organoids.

Andrea Latini, Paola Spitalieri, Federica Centofanti

|Nov 26, 2025
Infantile-Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24-25 Deletion: Expanding the Genotypic Spectrum.

Vito Luigi Colona, Maria Gnazzo, Silvia Genovese

|Mar 28, 2025
Autosomal dominant POLR3B variants: Phenotypic continuum and perspectives on its role as an epilepsy gene.

Angela De Dominicis, Fabrizia Stregapede, Marina Trivisano

|Jun 01, 2024
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.

Maria Lisa Dentici, Marcello Niceta, Francesca Romana Lepri

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