MONFRINI, EDOARDO
MONFRINI, EDOARDO
Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti
Are patients with GBA–Parkinson disease good candidates for deep brain stimulation? A longitudinal multicentric study on a large Italian cohort
2024 M. Avenali, R. Zangaglia, G. Cuconato, I. Palmieri, A. Albanese, C.A. Artusi, M. Bozzali, G. Calandra-Buonaura, F. Cavallieri, R. Cilia, A. Cocco, F. Cogiamanian, F. Colucci, P. Cortelli, A. Di Fonzo, R. Eleopra, G. Giannini, A. Imarisio, G. Imbalzano, C. Ledda, L. Lopiano, M.C. Malaguti, F. Mameli, R. Minardi, P. Mitrotti, E. Monfrini, F. Spagnolo, C. Tassorelli, F. Valentino, F. Valzania, C. Pacchetti, E.M. Valente
Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia
2024 E. Monfrini, L. Avanzino, G. Palermo, G. Bonato, G. Brescia, R. Ceravolo, G. Cantarella, P. Mandich, H. Prokisch, K. Storm van's Gravesande, G. Straccia, A. Elia, C. Reale, C. Panteghini, G. Zorzi, R. Eleopra, R. Erro, M. Carecchio, B. Garavaglia, M. Zech, L. Romito, A. Di Fonzo
Unleashing the potential of mRNA therapeutics for inherited neurological diseases
2024 E. Monfrini, G. Baso, D. Ronchi, M. Meneri, D. Gagliardi, L. Quetti, F. Verde, N. Ticozzi, A. Ratti, A. Di Fonzo, G.P. Comi, L. Ottoboni, S. Corti
Genetics in Parkinson's disease, state-of-the-art and future perspectives
2024 L. Trevisan, A. Gaudio, E. Monfrini, L. Avanzino, A. Di Fonzo, P. Mandich
Dystonic Tremor as Main Clinical Manifestation of SCA21
2024 V. Yahya, C. Baiata, E. Monfrini, S. Correia, G. Brescia, A. Di Fonzo, E. Moro
Reply to: Comment on Soft cerebellar signs unveil RARS2-related epilepsy
2024 V. Yahya, R. Dilena, E. Monfrini
A case of 18p chromosomal deletion encompassing GNAL in a patient with dystonia-parkinsonism
2024 G. Di Rauso, F. Cavallieri, E. Monfrini, A. Fraternali, V. Fioravanti, S. Grisanti, A. Gessani, I. Campanini, A. Merlo, G. Toschi, M. Napoli, R. Pascarella, R. Silipigni, P. Finelli, J.J. Paul, P. Bauer, A. Versari, A. Di Fonzo, F. Valzania
RAB32 mutation in Parkinson's disease
2024 E. Monfrini, R. Minardi, F. Valzania, G. Calandra-Buonaura, P. Mandich, A. Di Fonzo
Soft cerebellar signs unveil RARS2‐related epilepsy
2024 V. Yahya, R. Dilena, R. DEL BO, M. Magni, F. Biella, S. Salani, F. Fortunato, E. Scola, A. Di Fonzo, E. Monfrini
Case report: Asp194Ala variant in MFN2 is associated with ALS-FTD in an Italian family
2023 C. Vinciguerra, A. Di Fonzo, E. Monfrini, D. Ronchi, S. Cuoco, G. Piscosquito, P. Barone, M.T. Pellecchia
Chorea-Acanthocytosis Presenting with Parkinsonism-Dystonia without Chorea
2023 E. Monfrini, A. Di Fonzo, F. Morgante
Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study
2023 A. Di Fonzo, M. Percetti, E. Monfrini, I. Palmieri, A. Albanese, M. Avenali, A. Bartoletti-Stella, F. Blandini, G. Brescia, G. Calandra-Buonaura, R. Campopiano, S. Capellari, I. Colangelo, G.P. Comi, G. Cuconato, R. Ferese, C. Galandra, S. Gambardella, B. Garavaglia, A. Gaudio, E. Giardina, F. Invernizzi, P. Mandich, R. Mineri, C. Panteghini, C. Reale, L. Trevisan, S. Zampatti, P. Cortelli, E.M. Valente
Brain Calcifications: Genetic, Molecular, and Clinical Aspects
2023 E. Monfrini, F. Arienti, P. Rinchetti, F. Lotti, G.M. Riboldi
A form of inherited hyperferritinemia associated with bi-allelic pathogenic variants of STAB1
2023 E. Monfrini, S. Pelucchi, M. Hollmen, M. Viitala, R. Mariani, F. Bertola, S. Majore, A. Di Fonzo, A. Piperno
Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency
2023 E. Monfrini, A. Pesini, F. Biella, C.F.R. Sobreira, V. Emmanuele, G. Brescia, L.C. Lopez, S. Tadesse, M. Hirano, G.P. Comi, C.M. Quinzii, A. Di Fonzo
Genetic Evidence for Endolysosomal Dysfunction in Parkinson’s Disease: A Critical Overview
2023 V. Yahya, A. Di Fonzo, E. Monfrini
Speech, Gait, and Vestibular Function in Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome
2023 G. Di Rauso, A. Castellucci, F. Cavallieri, A. Tozzi, V. Fioravanti, E. Monfrini, A. Gessani, J. Rossi, I. Campanini, A. Merlo, D. Ronchi, M. Napoli, R. Pascarella, S. Grisanti, G. Ferrulli, R. Sabadini, A. Di Fonzo, A. Ghidini, F. Valzania
Early-onset inherited dystonias versus late-onset idiopathic dystonias: Same or different biological mechanisms?
2023 R. Erro, E. Monfrini, A. Di Fonzo
The unexpected finding of CNS autoantibodies in GBA1 mutation carriers with atypical parkinsonism
2023 F. Di Biasio, G. Lazzeri, E. Monfrini, P. Mandich, L. Trevisan, S. Morbelli, T.B. Markushi, L. Avanzino, A. Di Fonzo
Reply to: Lack of Association between TWNK Rare Variants and Parkinson's Disease in a Chinese Cohort
2023 M. Percetti, E. Monfrini, L. Caporali, R. Minardi, V. Carelli, E.M. Valente, A. Di Fonzo