Vito L. Colona

Rome, Italy

Last Updated: 09/26/2026

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Found 38 publications

Modelling severe COVID-19 in TLR3-mutated hiPSCs-derived lung organoids.

Modelling severe COVID-19 in TLR3-mutated hiPSCs-derived lung organoids.

Journal: Cell death discovery

Published: September 12, 2025

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

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

Journal: American journal of medical genetics. Part A

Published: August 19, 2025

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

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

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: August 06, 2025

A de novo KCNA3 and an inherited KCNQ3 missense variant causing a developmental and epileptic encephalopathy, intellectual disability, and behavioral anomalies.

A de novo KCNA3 and an inherited KCNQ3 missense variant causing a developmental and epileptic encephalopathy, intellectual disability, and behavioral anomalies.

Journal: Neurogenetics

Published: August 01, 2025

Cytogenomics and optical genome mapping approaches characterize a derivative interstitial monosomy 18p due to a maternal complex intrachromosomal rearrangement.

Cytogenomics and optical genome mapping approaches characterize a derivative interstitial monosomy 18p due to a maternal complex intrachromosomal rearrangement.

Journal: Molecular cytogenetics

Published: July 12, 2025

Effects of combined cerebellar tACS-iTBS in individuals with ataxia (EtABeta): a crossover investigation.

Effects of combined cerebellar tACS-iTBS in individuals with ataxia (EtABeta): a crossover investigation.

Journal: Trials

Published: April 03, 2025

Genotype variability in early-onset Hereditary Spastic Paraplegia: a single-center study.

Genotype variability in early-onset Hereditary Spastic Paraplegia: a single-center study.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: January 08, 2025

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

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

Journal: Brain sciences

Published: December 31, 2024

Autosomal dominant POLR3B variants: Phenotypic continuum and perspectives on its role as an epilepsy gene.

Autosomal dominant POLR3B variants: Phenotypic continuum and perspectives on its role as an epilepsy gene.

Journal: Epilepsia

Published: December 20, 2024

Segmental brainstem myoclonus in ADCK3-Related ataxia: A novel phenomenon?

Segmental brainstem myoclonus in ADCK3-Related ataxia: A novel phenomenon?

Journal: Parkinsonism & related disorders

Published: December 05, 2024

Genetic diversity of the immunoglobulin heavy chain locus in cohorts of patients affected with SARS-CoV-2.

Genetic diversity of the immunoglobulin heavy chain locus in cohorts of patients affected with SARS-CoV-2.

Journal: Human genomics

Published: October 24, 2024

De Novo GRID2 Variant as a Cause of Ataxia with Oculomotor Apraxia and Alpha-Fetoprotein Elevation.

De Novo GRID2 Variant as a Cause of Ataxia with Oculomotor Apraxia and Alpha-Fetoprotein Elevation.

Journal: Cerebellum (London, England)

Published: September 16, 2024

Showing 1-12 of 38

Last Updated: 09/26/2026