Edoardo Monfrini

39PUBLICATIONS
165CO-AUTHORS
Neurology and neuromuscular diseasesGene mappingGenomicsInfant and child healthMedical infection agents (incl. prions)
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Publications (39)

|Apr 15, 2026
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality.

|Apr 14, 2026
CACNA1C -Related Channelopathy Presenting With Adult-Onset Combined Dystonia-Parkinsonism: A Novel Neurological Presentation.

Donatella Ottaviani, Ruggero Bacchin, Arlend Pjeçi

|Oct 22, 2025
Long-Term Motor and Cognitive Outcome of Deep Brain Stimulation in Patients With Parkinson Disease With a GBA1 Pathogenic Variant.

Micol Avenali, Carlo Alberto Artusi, Roberto Cilia

|Oct 17, 2025
RAB32-Linked Parkinson's Disease: Deep Phenotyping, MDSGene Literature Review, and Application of SynNeurGe Criteria.

Teresa Kleinz, Francesco Cavallieri, Max Borsche

|Oct 08, 2025
RRP12 Variants Are Associated With Autosomal Recessive Brain Calcifications.

Edoardo Monfrini, Paola Rinchetti, Mathieu Anheim

|Sep 27, 2025
From Pharmacological Treatment to Neuromodulation: A Comprehensive Approach to Managing Gilles de la Tourette Syndrome.

Edoardo Monfrini, Christian Saleh, Domenico Servello

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Frequent Collaborators

30 joint publications

Alessio Di Fonzo

6 joint publications

Enza Maria Valente

6 joint publications

Vidal Yahya

6 joint publications

Francesco Cavallieri