Publications by authors named "V Bonifati"

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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, Jose A Rodriguez, Annarita Scardamaglia, Vincenzo Bonifati

medRxiv· July 2025

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Pervasive glycative stress links metabolic imbalance and muscle atrophy in early-onset Parkinson's disease.
Natalia Prudente de Mello, Michelle Tamara Berger, Kim A Lagerborg, Yingfei Yan, Jennifer Wettmarshausen, Vincenzo Bonifati

Mol Metab· July 2025

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Consensus of Expert Opinion for the Diagnosis and Management of Hypermanganesaemia With Dystonia 1 and 2.
Sherry Fang, Peter T Clayton, Divyani Garg, Sangeetha Yoganathan, Maha S Zaki, Vincenzo Bonifati

J Inherit Metab Dis· May 2025

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Clinical, neuroimaging and genetic findings in Brazilian patients with neurodegeneration with brain iron accumulation.
Rubens Paulo Araújo Salomão, Flávio Moura Rezende Filho, Vanderci Borges, Manju A Kurian, Henrique Ballalai Ferraz, Vincenzo Bonifati

Parkinsonism Relat Disord· June 2024

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Altered TFEB subcellular localization in nigral neurons of subjects with incidental, sporadic and GBA-related Lewy body diseases.
Tim E Moors, Martino L Morella, Cesc Bertran-Cobo, Hanneke Geut, Vinod Udayar, Vincenzo Bonifati

Acta Neuropathol· April 2024

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