Antonietta Taiani

7PUBLICATIONS
28CO-AUTHORS
Neurology and neuromuscular diseasesGene and molecular therapyMolecular targetsCancer genetics
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (7)

|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.

|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

|Jul 27, 2024
Phenotypic Expansion of Autosomal Dominant LZTR1-Related Disorders with Special Emphasis on Adult-Onset Features.

Vera Uliana, Enrico Ambrosini, Antonietta Taiani

Pageof 2

Frequent Collaborators

7 joint publications

Valeria Barili

7 joint publications

Davide Martorana

7 joint publications

Antonio Percesepe

5 joint publications

Ilenia Rita Cannizzaro