Alessandro De Luca

29PUBLICATIONS
134CO-AUTHORS
Neurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Gene and molecular therapyDevelopmental genetics (incl. sex determination)Medical virology
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (29)

|Jul 16, 2026
Mutant Huntingtin disrupts neurogenic and astroglial programs via the EZH2-Let-7g-LIN28 axis with rescue by epigenetic modulators.

|Jan 08, 2026
Domain-specific phenotypic profiles in RAF1-related Noonan syndrome.

Andrea Gazzin, Marta Calvo, Federico Rondot

|Jan 25, 2025
Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs.

Rita Selvatici, Valentina Guida, Massimo Maffei

|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

|Jun 01, 2024
Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant.

Andrea Gazzin, Federico Fornari, Marcello Niceta

|May 25, 2024
Novel ATP2A2 Gene Mutation c.118G>A Causing Keratinocyte and Cardiomyocyte Disconnection in Darier Disease.

Andrea Frustaci, Alessandro De Luca, Romina Verardo

Pageof 5

Frequent Collaborators

12 joint publications

Marco Tartaglia

5 joint publications

Laura Bernardini

4 joint publications

Chiara Leoni

4 joint publications

Marcello Niceta