Ilenia Rita Cannizzaro

5PUBLICATIONS
19CO-AUTHORS
Gene and molecular therapyNeurology and neuromuscular diseasesMolecular targetsNeurogenetics
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (5)

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

|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

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

Barbara Moschella, Sabrina Busciglio, Enrico Ambrosini

|Oct 16, 2024
Proof of Concept for Genome Profiling of the Neurofibroma/Sarcoma Sequence in Neurofibromatosis Type 1.

Ilenia Rita Cannizzaro, Mirko Treccani, Antonietta Taiani

|Jun 28, 2023
Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond.

Valeria Barili, Enrico Ambrosini, Vera Uliana

Pageof 1

Frequent Collaborators

5 joint publications

Davide Martorana

5 joint publications

Antonio Percesepe

4 joint publications

Antonietta Taiani

4 joint publications

Valeria Barili