MONFRINI, EDOARDO
MONFRINI, EDOARDO
Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti
Childhood-onset focal epilepsy and acute para-infectious encephalopathy in a patient with biallelic QARS1 variants
2025 V. Yahya, E. Monfrini, A. Celato, I. Botti, S. Guez, E. Scola, R. Del Bo, A. Di Fonzo, R. Dilena
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
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
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
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
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
Reply to: Comment on Soft cerebellar signs unveil RARS2-related epilepsy
2024 V. Yahya, R. Dilena, E. Monfrini
Dystonic Tremor as Main Clinical Manifestation of SCA21
2024 V. Yahya, C. Baiata, E. Monfrini, S. Correia, G. Brescia, A. Di Fonzo, E. Moro
RAB32 mutation in Parkinson's disease
2024 E. Monfrini, R. Minardi, F. Valzania, G. Calandra-Buonaura, P. Mandich, A. Di Fonzo
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
GABRB1‐related early onset developmental and epileptic encephalopathy: Clinical trajectory and novel de novo mutation
2023 E. Monfrini, L. Borellini, E. Zirone, V. Yahya, E. Mauri, M.T. Molisso, F. Mameli, F. Ruggiero, G.P. Comi, S. Barbieri, Di , A. Fonzo, R. Dilena
Deconstructing speech alterations in episodic ataxia type 2: Perceptual-acoustic analysis in a case due to CACNA1A gene mutation
2023 G. Argenziano, F. Cavallieri, E. Monfrini, A. Gessani, M. Russo, R. Rizzi, V. Fioravanti, S. Grisanti, G. Toschi, M. Napoli, R. Pascarella, C. Budriesi, A. Di Fonzo, R. Zucco, F. Valzania
Recent Advances in the Treatment of Genetic Forms of Parkinson’s Disease: Hype or Hope?
2023 F. Cavallieri, R.G. Cury, T. Guimaraes, V. Fioravanti, S. Grisanti, J. Rossi, E. Monfrini, M. Zedde, A. Di Fonzo, F. Valzania, E. Moro
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
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
Genetic Evidence for Endolysosomal Dysfunction in Parkinson’s Disease: A Critical Overview
2023 V. Yahya, A. Di Fonzo, E. Monfrini
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
Chorea-Acanthocytosis Presenting with Parkinsonism-Dystonia without Chorea
2023 E. Monfrini, A. Di Fonzo, F. Morgante