MONFRINI, EDOARDO
MONFRINI, EDOARDO
Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti
A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation
2020 A. Manini, T. Bocci, A. Migazzi, E. Monfrini, D. Ronchi, G. Franco, A. De Rosa, F. Sartucci, A. Priori, S. Corti, G.P. Comi, N. Bresolin, M. Basso, A. Di Fonzo
A de novo C19orf12 heterozygous mutation in a patient with MPAN
2017 E. Monfrini, V. Melzi, G. Buongarzone, G. Franco, D. Ronchi, R. Dilena, E. Scola, P. Vizziello, A. Bordoni, N. Bresolin, G.P. Comi, S. Corti, A. Di Fonzo
A novel homozygous PLA2G6 mutation causes dystonia-parkinsonism
2015 M.C. Malaguti, V. Melzi, R. Di Giacopo, E. Monfrini, E. Di Biase, G. Franco, L. Borellini, I. Trezzi, G. Monzio Compagnoni, P. Fortis, P. Feraco, D. Orrico, L. Cucurachi, D. Donner, M. Rizzuti, D. Ronchi, S. Bonato, N. Bresolin, S. Corti, G.P. Comi, A. Di Fonzo
A novel homozygous VPS11 variant may cause generalized dystonia
2021 E. Monfrini, F. Cogiamanian, S. Salani, L. Straniero, G. Fagiolari, M. Garbellini, E. Carsana, L. Borellini, F. Biella, M. Moggio, N. Bresolin, S. Corti, S. Duga, G.P. Comi, M. Aureli, A. Di Fonzo
A Practical Approach to Early-Onset Parkinsonism
2022 G.M. Riboldi, E. Frattini, E. Monfrini, S.J. Frucht, A. Di Fonzo
Brain Calcifications: Genetic, Molecular, and Clinical Aspects
2023 E. Monfrini, F. Arienti, P. Rinchetti, F. Lotti, G.M. Riboldi
Childhood-onset dystonia with cerebellar signs: expanding the spectrum of GNAL mutations
2020 R. Erro, A. Di Fonzo, M. Percetti, E. Monfrini, S. Scannapieco, M. Picillo, P. Barone
Clinical reasoning: a 75-year-old man with parkinsonism, mood depression, and weight loss
2018 E. Frattini, E. Monfrini, G. Bitetto, B. Ferrari, S. Arcudi, N. Bresolin, M.C. Saetti, A. Di Fonzo
Clinical uses of Bupropion in patients with Parkinson’s disease and comorbid depressive or neuropsychiatric symptoms: a scoping review
2022 M.E.M. Vismara, B. Benatti, G. Nicolini, I. Cova, E. Monfrini, Alessio Di Fonzo, F. Vincenza, C.A. Vigano', A. Priori, D. Bernardo
Cognitive and Autonomic Dysfunction in Multiple System Atrophy Type P and C: A Comparative Study
2022 G. Lazzeri, G. Franco, T. Difonzo, A. Carandina, C. Gramegna, M. Vergari, F. Arienti, A. Naci, C. Scatà, E. Monfrini, G. Dias Rodrigues, N. Montano, G.P. Comi, M.C. Saetti, E. Tobaldini, A. Di Fonzo
Complex genomic alterations and intellectual disability: an interpretative challenge
2020 R. Silipigni, D. Milani, G. Tolva, E. Monfrini, A. Giacobbe, P.G. Marchisio, S. Guerneri
Dysautonomia in Parkinson's Disease: Impact of Glucocerebrosidase Gene Mutations on Cardiovascular Autonomic Control
2022 A. Carandina, G. Lazzeri, G.D. Rodrigues, G. Franco, E. Monfrini, F. Arienti, E. Frattini, I. Trezzi, P.P. da Silva Soares, C. Bellocchi, L. Furlan, N. Montano, A. Di Fonzo, E. Tobaldini
Dystonia-ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency
2020 D. Ronchi, E. Monfrini, S. Bonato, V. Mancinelli, C. Cinnante, S. Salani, A. Bordoni, P. Ciscato, F. Fortunato, M. Villa, A. Di Fonzo, S. Corti, N. Bresolin, G.P. Comi
Expanding the genotypic and phenotypic spectrum of Beta-propeller-associated neurodegeneration (BPAN)
2021 E. Monfrini, P. Tocco, S. Bonato, M. Tosi, V. Melzi, E. Frattini, G. Franco, S. Corti, G.P. Comi, N. Bresolin, A. Di Fonzo
GBA-Related Parkinson's Disease: Dissection of Genotype–Phenotype Correlates in a Large Italian Cohort
2020 S. Petrucci, M. Ginevrino, I. Trezzi, E. Monfrini, L. Ricciardi, A. Albanese, M. Avenali, P. Barone, A.R. Bentivoglio, V. Bonifati, F. Bove, L. Bonanni, L. Brusa, C. Cereda, G. Cossu, C. Criscuolo, G. Dati, A. De Rosa, R. Eleopra, G. Fabbrini, L. Fadda, M. Garbellini, B. Minafra, M. Onofrj, C. Pacchetti, I. Palmieri, M.T. Pellecchia, M. Petracca, M. Picillo, A. Pisani, A. Vallelunga, R. Zangaglia, A. Di Fonzo, F. Morgante, E.M. Valente, M.C. Altavista, M. Amboni, G. Ardolino, A. Berardelli, F. Cogiamanian, C. Colosimo, D. Costanti, G. De Michele, C.D. Bonaventura, G. Di Lazzaro, V. Di Lazzaro, A. Emanuele Elia, R. Erro, G. Ferrazzano, A. Guerra, T. Ialongo, M.C. Malaguti, M. Melis, E. Moro, V. Oppo, D. Ottaviani, S. Peluso, M.L. Quadri, L.M. Romito, M. Sarchioto, T. Schirinzi, C. Sorbera, A. Stefani, A. Thomas, M.L. Valente, G. Volpe
Genetic evaluation in phenotypically discordant monozygotic twins with Coats Disease
2022 R.A.U. Lizzio, E. Monfrini, S. Romano, G. Brescia, S. Vujosevic, M. Sacchi, A. Di Fonzo, P. Nucci
Genetic Evidence for Endolysosomal Dysfunction in Parkinson’s Disease: A Critical Overview
2023 V. Yahya, A. Di Fonzo, E. Monfrini
Genetics of Movement Disorders and the Practicing Clinician; Who and What to Test for?
2018 A. Di Fonzo, E. Monfrini, R. Erro
HOPS-associated neurological disorders (HOPSANDs): Linking endolysosomal dysfunction to the pathogenesis of dystonia
2021 E. Monfrini, M. Zech, D. Steel, M.A. Kurian, J. Winkelmann, A. Di Fonzo
Juvenile dystonia-parkinsonism syndrome caused by a novel p.S941Tfs1X ATP13A2 (PARK9) mutation
2015 D. Martino, V. Melzi, G. Franco, N. Kandasamy, E. Monfrini, A. Di Fonzo