Antonio Percesepe

22PUBLICATIONS
232CO-AUTHORS
Gene and molecular therapySensory systemsNeurology and neuromuscular diseasesCardiology (incl. cardiovascular diseases)Molecular targets
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (22)

|Jul 28, 2026
Genotype-Driven Diagnosis Enables Targeted Pharmacological Treatment in Brunner Syndrome: A Novel Splice-Site MAOA Variant and Case-Based Review.

|Jan 09, 2026
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova

|Dec 30, 2025
The Pathogenesis of the Neurofibroma-to-Sarcoma Transition in Neurofibromatosis Type I: From Molecular Profiles to Diagnostic Applications.

Sabrina Busciglio, Ilenia Rita Cannizzaro, Anita Luberto

|Oct 16, 2025
Arrhythmogenic Cardiomyopathy and Biomarkers: A Promising Perspective?

Federico Barocelli, Nicolò Pasini, Alberto Bettella

|Jun 26, 2025
Genetics of Darier's Disease: New Insights into Pathogenic Mechanisms.

Barbara Moschella, Sabrina Busciglio, Enrico Ambrosini

|Jun 19, 2025
Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study.

Silvia Giovanella, Antonio Miguel Poyatos-Andújar, Maria Mar Aguila Garcia

Pageof 4

Frequent Collaborators

9 joint publications

Davide Martorana

8 joint publications

Valeria Barili

7 joint publications

Enrico Ambrosini

6 joint publications

Antonietta Taiani