Maurizio Elia

20PUBLICATIONS
95CO-AUTHORS
Neurology and neuromuscular diseasesMajor global burdens of diseaseInfant and child healthNeurogeneticsPsychopharmacology
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Publications (20)

|May 13, 2026
A De Novo USP24 Variant as a Candidate Driver in a Neurodevelopmental Disorder: Insights from Trio-Based Whole-Exome Sequencing.

|Feb 27, 2026
Neurodegeneration Biomarkers in Epilepsy: A Critical Review of Current Findings.

Ambra Butera, Simona D'Antoni, Antonio Gennaro Nicotera

|Feb 13, 2026
Potential Link Between a Disruptive CAPN6 Variant and Neurodevelopmental Disorders.

Francesco Calì, Simone Treccarichi, Mirella Vinci

|Feb 03, 2026
Functional Characterization of a De Novo SCN2A Mixed Variant Linked to Early Infantile Developmental and Epileptic Encephalopathy.

Anna Corradi, Antonella Riva, Bruno Sterlini

|Sep 27, 2025
Exploring Copy Number Variants in a Cohort of Children Affected by ADHD: Clinical Investigation and Translational Insights.

Federica Mirabella, Valentina Finocchiaro, Mariagrazia Figura

|Sep 27, 2025
Focus on Clinical and Genetic Aspects of PKAN Through the Description of New Patients.

Marika Giuliano, Eugenia Borgione, Mariangela Lo Giudice

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Frequent Collaborators

7 joint publications

Francesco Calì

7 joint publications

Salvatore Saccone

6 joint publications

Luigi Vetri

6 joint publications

Carola Costanza