Vincenzo Bonifati

6PUBLICATIONS
113CO-AUTHORS
Neurology and neuromuscular diseasesMedical biochemistry - proteins and peptides (incl. medical proteomics)Cellular nervous systemMolecular targetsGene mapping
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Publications (6)

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

|Aug 16, 2024
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function.

Francesca Magrinelli, Christelle Tesson, Plamena R Angelova

|Jun 01, 2023
deCLUTTER2+ - a pipeline to analyze calcium traces in a stem cell model for ventral midbrain patterned astrocytes.

Martyna M Grochowska, Federico Ferraro, Ana Carreras Mascaro

|Sep 08, 2022
PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability.

Christina Fevga, Christelle Tesson, Ana Carreras Mascaro

|Aug 27, 2022
Family History for Neurodegeneration in Multiple System Atrophy: Does it Indicate Susceptibility?

Fabian Leys, Sabine Eschlböck, Nicole Campese

|Jan 11, 2021
Experience in Genetic Counseling for GBA1 Variants in Parkinson's Disease.

Jonas M den Heijer, Jacobus J van Hilten, Anneke J A Kievit

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Frequent Collaborators

4 joint publications

Alexis Brice

3 joint publications

Bassem A Hassan

3 joint publications

Hermann Steller

3 joint publications

Guido J Breedveld