Roberta Battini

31PUBLICATIONS
123CO-AUTHORS
Neurology and neuromuscular diseasesCancer geneticsMedical biotechnology diagnostics (incl. biosensors)Medical infection agents (incl. prions)Medical mycology
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (31)

|Oct 26, 2026
A Mild Neurodevelopmental Phenotype Associated with a Novel BRAT1 Variant: Expanding Genotype-Phenotype Correlations.

|Jun 26, 2026
Expanding the Phenotypic Spectrum of Raynaud-Claes Syndrome: A Rett-like Presentation with Two New Cases.

|Mar 28, 2026
Muscle Imaging Approaches in Marinesco-Sjögren Syndrome: A Systematic Review and Two New Clinical Reports.

Bianca Buchignani, Giada Vega, Rosa Pasquariello

|Mar 06, 2026
Efficacy and safety of continuous midazolam infusion in the treatment of acute repetitive seizures in non-intensive settings: A multicenter retrospective real-world data study.

Alessandro Orsini, Lorenza Marini, Luca Bergonzini

|Mar 03, 2026
Advancing clinical insight into creatine transporter deficiency: long term outcome and new observations from the Italian cohort.

Maria Grazia Alessandrì, Chiara Bosetti, Elena Scaffei

|Dec 10, 2025
A novel mutation in FDX2 provides insights into the pathogenesis of MEOAL mitochondrial neuromuscular disease.

Davide Doni, Deborah Grifagni, Federica Cavion

Pageof 6

Frequent Collaborators

5 joint publications

Filippo Maria Santorelli

5 joint publications

Stefano Doccini

5 joint publications

Roberta Milone

4 joint publications

Bianca Buchignani