Antonio Percesepe

23PUBLICATIONS
233CO-AUTHORS
Neurology and neuromuscular diseasesGene and molecular therapySensory systemsCardiology (incl. cardiovascular diseases)Molecular targets
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Publications (23)

|Sep 26, 2026
Beyond the Kidney: A Systematic Review of Extrarenal Manifestations in MAPKBP1-Related Nephronophthisis.

|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

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Frequent Collaborators

10 joint publications

Davide Martorana

9 joint publications

Valeria Barili

8 joint publications

Enrico Ambrosini

7 joint publications

Antonietta Taiani