Vito Luigi Colona

9PUBLICATIONS
46CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Developmental genetics (incl. sex determination)Haematological tumoursNeurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)
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Publications (9)

|Sep 25, 2026
Clinical and Molecular Delineation of KAT6B-Related Disorders: Novel Variants and Refined Genotype-Phenotype Correlations.

|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

|Feb 26, 2025
Three Cases of Spinocerebellar Ataxia Type 2 (SCA2) and Pediatric Literature Review: Do Not Forget Trinucleotide Repeat Disorders in Childhood-Onset Progressive Ataxia.

Jacopo Sartorelli, Maria Grazia Pomponi, Giacomo Garone

|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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Frequent Collaborators

4 joint publications

Antonio Novelli

2 joint publications

Giuseppe Novelli

2 joint publications

Enrico Bertini

2 joint publications

Adele D'Amico