Rita Barone

36PUBLICATIONS
97CO-AUTHORS
Immunogenetics (incl. genetic immunology)NeurogeneticsMedical biochemistry - amino acids and metabolitesAdolescent healthNeurology and neuromuscular diseases
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Publications (36)

|Jun 26, 2026
IgG Glycosylation Analysis in Patients with Ring14 Syndrome Unveils Novel Pathomechanisms and New Therapy Perspectives.

|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

|Jul 29, 2025
Clinical and Behavioral Correlates of Blood Acylcarnitine Profiles in Children with Autism Spectrum Disorder: A Cross-Sectional Analysis.

Adriana Prato, Martina Randazzo, Maria Anna Messina

|Jun 16, 2025
Acute transient psychotic episode as presenting sign of Mucopolysaccharidosis III A (Sanfilippo Syndrome type A) in an adolescent patient.

Lara Cirnigliaro, Martina Randazzo, Andrea Dardis

|Jun 15, 2025
POLR3A rare variants in a patient with intellectual disability, ataxic gait and cortical malformations: a case-report.

Caterina Angela Florio, Federica Mirabella, Adriana Prato

|Apr 14, 2025
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG.

Sander Pajusalu, Mari-Anne Vals, Mercedes Serrano

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Frequent Collaborators

12 joint publications

Renata Rizzo

5 joint publications

Antonino Casabona

5 joint publications

Adriana Prato

4 joint publications

Luisa Sturiale