Edoardo Monfrini

Scopus Author ID ResearcherID Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 34

Top Venues

Neurology. Genetics

Epileptic disorders : international epilepsy journal with videotape

Movement disorders : official journal of the Movement Disorder Society

Movement disorders clinical practice

University of Milan

Università degli Studi di Milano (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

University of Milan Nov 01 2015

Italy

Specializzandi

Education History

Università degli Studi di Milano Oct 01 2019

Italy

PHD :: Department of Pathophysiology and Transplantation, Neuroscience Section

Publications

Vidal Yahya, Robertino Dilena, Roberto Del Bo, Manuela Magni, Fabio Biella, Sabrina Salani, Francesco Fortunato, Elisa Scola, Alessio di Fonzo, Edoardo Monfrini
Soft cerebellar signs unveil RARS2-related epilepsy. Epileptic disorders : international epilepsy journal with videotape 26 (4) (2024)
Francesco Cavallieri, Chiara Lucchi, Sara Grisanti, Edoardo Monfrini, Valentina Fioravanti, Giulia Toschi, Giulia Di Rauso, Jessica Rossi, Alessio di Fonzo, Giuseppe Biagini, Franco Valzania
Neurosteroid Levels in GBA Mutated and Non-Mutated Parkinson's Disease: A Possible Factor Influencing Clinical Phenotype? Biomolecules 14 (8) (2024)
Edoardo Monfrini, Giacomo Baso, Dario Ronchi, Megi Meneri, Delia Gagliardi, Lorenzo Quetti, Federico Verde, Nicola Ticozzi, Antonia Ratti, Alessio di Fonzo, Giacomo P Comi, Linda Ottoboni, Stefania P Corti
Unleashing the potential of mRNA therapeutics for inherited neurological diseases. Brain : a journal of neurology 147 (9) (2024)
Vidal Yahya, Robertino Dilena, Roberto Del Bo, Manuela Magni, Fabio Biella, Sabrina Salani, Francesco Fortunato, Elisa Scola, Alessio di Fonzo, Edoardo Monfrini
Soft cerebellar signs unveil RARS2-related epilepsy. Epileptic disorders : international epilepsy journal with videotape (2024)
Vidal Yahya, Robertino Dilena, Roberto Del Bo, Manuela Magni, Fabio Biella, Sabrina Salani, Francesco Fortunato, Elisa Scola, Alessio di Fonzo, Edoardo Monfrini
Soft cerebellar signs unveil RARS2-related epilepsy. Epileptic disorders : international epilepsy journal with videotape 26 (4) (2024)
Edoardo Monfrini, Giacomo Baso, Dario Ronchi, Megi Meneri, Delia Gagliardi, Lorenzo Quetti, Federico Verde, Nicola Ticozzi, Antonia Ratti, Alessio di Fonzo, Giacomo P Comi, Linda Ottoboni, Stefania Corti
Unleashing the potential of mRNA therapeutics for inherited neurological diseases. Brain : a journal of neurology (2024)
Francesco Cavallieri, Chiara Lucchi, Sara Grisanti, Edoardo Monfrini, Valentina Fioravanti, Giulia Toschi, Giulia Di Rauso, Jessica Rossi, Alessio di Fonzo, Giuseppe Biagini, Franco Valzania
Neurosteroid Levels in GBA Mutated and Non-Mutated Parkinson's Disease: A Possible Factor Influencing Clinical Phenotype? Biomolecules 14 (8) (2024)
Vidal Yahya, Robertino Dilena, Roberto Del Bo, Manuela Magni, Fabio Biella, Sabrina Salani, Francesco Fortunato, Elisa Scola, Alessio di Fonzo, Edoardo Monfrini
Soft cerebellar signs unveil RARS2-related epilepsy. Epileptic disorders : international epilepsy journal with videotape 26 (4) (2024)
Edoardo Monfrini, Alba Pesini, Fabio Biella, Claudia Ferreira Da Rosa Sobreira, Valentina Emmanuele, Gloria Brescia, Luis Carlos López, Saba Tadesse, Michio Hirano, Giacomo P Comi, Catarina Maria Quinzii, Alessio di Fonzo
Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency. Neurology. Genetics 9 (2) (2023)
Giulia Di Rauso, Andrea Castellucci, Francesco Cavallieri, Andrea Tozzi, Valentina Fioravanti, Edoardo Monfrini, Annalisa Gessani, Jessica Rossi, Isabella Campanini, Andrea Merlo, Dario Ronchi, Manuela Napoli, Rosario Pascarella, Sara Grisanti, Giuseppe Ferrulli, Rossella Sabadini, Alessio di Fonzo, Angelo Ghidini, Franco Valzania
Speech, Gait, and Vestibular Function in Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome. Brain sciences 13 (10) (2023)
Edoardo Monfrini, Laura Avanzino, Giovanni Palermo, Giulia Bonato, Gloria Brescia, Roberto Ceravolo, Giovanna Cantarella, Paola Mandich, Holger Prokisch, Karin Storm Van's Gravesande, Giulia Straccia, Antonio Elia, Chiara Reale, Celeste Panteghini, Giovanna Zorzi, Roberto Eleopra, Roberto Erro, Miryam Carecchio, Barbara Garavaglia, Michael Zech, Luigi Michele Romito, Alessio di Fonzo
Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia. Movement disorders clinical practice 11 (1) (2023)
Edoardo Monfrini, Alessio di Fonzo, Francesca Morgante
Chorea-Acanthocytosis Presenting with Parkinsonism-Dystonia without Chorea. Movement disorders clinical practice 10 (Suppl 3) (2023)
Francesco Cavallieri, Rubens G Cury, Thiago Guimarães, Valentina Fioravanti, Sara Grisanti, Jessica Rossi, Edoardo Monfrini, Maria Luisa Zedde, Alessio di Fonzo, Franco Valzania, Elena Moro
Recent Advances in the Treatment of Genetic Forms of Parkinson's Disease: Hype or Hope? Cells 12 (5) (2023)
Vidal Yahya, Alessio di Fonzo, Edoardo Monfrini
Genetic Evidence for Endolysosomal Dysfunction in Parkinson's Disease: A Critical Overview. International journal of molecular sciences 24 (7) (2023)
Edoardo Monfrini, Laura Avanzino, Giovanni Palermo, Giulia Bonato, Gloria Brescia, Roberto Ceravolo, Giovanna Cantarella, Paola Mandich, Holger Prokisch, Karin Storm Van's Gravesande, Giulia Straccia, Antonio Elia, Chiara Reale, Celeste Panteghini, Giovanna Zorzi, Roberto Eleopra, Roberto Erro, Miryam Carecchio, Barbara Garavaglia, Michael Zech, Luigi Michele Romito, Alessio di Fonzo
Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia. Movement disorders clinical practice 11 (1) (2023)
Francesco Cavallieri, Rubens G Cury, Thiago Guimarães, Valentina Fioravanti, Sara Grisanti, Jessica Rossi, Edoardo Monfrini, Maria Luisa Zedde, Alessio di Fonzo, Franco Valzania, Elena Moro
Recent Advances in the Treatment of Genetic Forms of Parkinson's Disease: Hype or Hope? Cells 12 (5) (2023)
Edoardo Monfrini, Linda Borellini, Eleonora Zirone, Vidal Yahya, Eleonora Mauri, Maria Takeko Molisso, Francesca Mameli, Fabiana Ruggiero, Giacomo Pietro Comi, Sergio Barbieri, Alessio Di Fonzo, Robertino Dilena
GABRB1-related early onset developmental and epileptic encephalopathy: clinical trajectory and novel de novo mutation. Epileptic disorders : international epilepsy journal with videotape (2023)
Edoardo Monfrini, Laura Avanzino, Giovanni Palermo, Giulia Bonato, Gloria Brescia, Roberto Ceravolo, Giovanna Cantarella, Paola Mandich, Holger Prokisch, Karin Storm Van's Gravesande, Giulia Straccia, Antonio Elia, Chiara Reale, Celeste Panteghini, Giovanna Zorzi, Roberto Eleopra, Roberto Erro, Miryam Carecchio, Barbara Garavaglia, Michael Zech, Luigi Michele Romito, Alessio di Fonzo
Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia. Movement disorders clinical practice 11 (1) (2023)
Edoardo Monfrini, Alba Pesini, Fabio Biella, Claudia Ferreira Da Rosa Sobreira, Valentina Emmanuele, Gloria Brescia, Luis Carlos López, Saba Tadesse, Michio Hirano, Giacomo P Comi, Catarina Maria Quinzii, Alessio di Fonzo
Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency. Neurology. Genetics 9 (2) (2023)
Edoardo Monfrini, Alba Pesini, Fabio Biella, Claudia Ferreira Da Rosa Sobreira, Valentina Emmanuele, Gloria Brescia, Luis Carlos López, Saba Tadesse, Michio Hirano, Giacomo P Comi, Catarina Maria Quinzii, Alessio di Fonzo
Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency. Neurology. Genetics 9 (2) (2023)
Edoardo Monfrini, Alba Pesini, Fabio Biella, Claudia Ferreira Da Rosa Sobreira, Valentina Emmanuele, Gloria Brescia, Luis Carlos López, Saba Tadesse, Michio Hirano, Giacomo P Comi, Catarina Maria Quinzii, Alessio di Fonzo
Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency. Neurology. Genetics 9 (2) (2023)
Francesco Cavallieri, Rubens G Cury, Thiago Guimarães, Valentina Fioravanti, Sara Grisanti, Jessica Rossi, Edoardo Monfrini, Maria Luisa Zedde, Alessio di Fonzo, Franco Valzania, Elena Moro
Recent Advances in the Treatment of Genetic Forms of Parkinson's Disease: Hype or Hope? Cells 12 (5) (2023)
Edoardo Monfrini, Federica Arienti, Paola Rinchetti, Francesco Lotti, Giulietta Maria Riboldi
Brain Calcifications: Genetic, Molecular, and Clinical Aspects. International journal of molecular sciences 24 (10) (2023)
Letizia Straniero, Valeria Rimoldi, Edoardo Monfrini, Salvatore Bonvegna, Giada Melistaccio, Julie Lake, Giulia Soldà, Massimo Aureli, null Shankaracharya, Pamela Keagle, Tatiana Foroud, John E Landers, Cornelis Blauwendraat, Anna Zecchinelli, Roberto Cilia, Alessio Di Fonzo, Gianni Pezzoli, Stefano Duga, Rosanna Asselta
Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk. Movement disorders : official journal of the Movement Disorder Society 37 (6) (2022)
Giulietta Maria Riboldi, Edoardo Monfrini, Christine Stahl, Steven J Frucht
NUS1 and Epilepsy-myoclonus-ataxia Syndrome: An Under-recognized Entity? Tremor and other hyperkinetic movements (New York, N.Y.) 12 (2022)
Edoardo Monfrini, Andrea Ciolfi, Francesco Cavallieri, Marco Ferilli, Paola Soliveri, Lucia Pedace, Roberto Erro, Francesca Del Sorbo, Franco Valzania, Valentina Fioravanti, Giovanni Cossu, Maria Pellegrini, Leonardo Salviati, Federica Invernizzi, Valentina Oppo, Daniela Murgia, Bruno Giometto, Marina Picillo, Barbara Garavaglia, Francesca Morgante, Tartaglia Marco, Miryam Carecchio, Alessio di Fonzo
Adult-onset KMT2B-related dystonia. Brain communications 4 (6) (2022)
Marco Percetti, Giulia Franco, Edoardo Monfrini, Leonardo Caporali, Raffaella Minardi, Chiara La Morgia, Maria Lucia Valentino, Rocco Liguori, Ilaria Palmieri, Donatella Ottaviani, Maria Vizziello, Dario Ronchi, Federica Di Berardino, Antoniangela Cocco, Bertil Macao, Maria Falkenberg, Giacomo Pietro Comi, Alberto Albanese, Bruno Giometto, Enza Maria Valente, Valerio Carelli, Alessio di Fonzo
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study. Movement disorders : official journal of the Movement Disorder Society 37 (9) (2022)
Marco Percetti, Edoardo Monfrini, Leonardo Caporali, Raffaella Minardi, Valerio Carelli, Enza Maria Valente, Alessio di Fonzo
Reply to: No Association between Rare TWNK Variants and Parkinson's Disease in European Cohorts. Movement disorders : official journal of the Movement Disorder Society 37 (11) (2022)
Federica Arienti, Giulia Lazzeri, Maria Vizziello, Edoardo Monfrini, Nereo Bresolin, Maria Cristina Saetti, Marina Picillo, Giulia Franco, Alessio di Fonzo
Unravelling Genetic Factors Underlying Corticobasal Syndrome: A Systematic Review. Cells 10 (1) (2021)
Edoardo Monfrini, Michael Zech, Dora Steel, Manju A Kurian, Juliane Winkelmann, Alessio di Fonzo
HOPS-associated neurological disorders (HOPSANDs): linking endolysosomal dysfunction to the pathogenesis of dystonia. Brain : a journal of neurology 144 (9) (2021)
Edoardo Monfrini, Filippo Cogiamanian, Sabrina Salani, Letizia Straniero, Gigliola Fagiolari, Manuela Garbellini, Emma Veronica Carsana, Linda Borellini, Fabio Biella, Maurizio Moggio, Nereo Bresolin, Stefania P Corti, Stefano Duga, Giacomo Pietro Comi, Massimo Aureli, Alessio di Fonzo
A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia. Annals of neurology 89 (4) (2021)
Edoardo Monfrini, Dario Ronchi, Giulia Franco, Manuela Garbellini, Letizia Straniero, Elisa Scola, Federica Arienti, Stefano Duga, Giacomo Pietro Comi, Nereo Bresolin, Alessio di Fonzo
Late-onset leukoencephalopathy in a patient with recessive EARS2 mutations. Neurology. Genetics 6 (5) (2020)
Simona Petrucci, Monia Ginevrino, Ilaria Trezzi, Edoardo Monfrini, Lucia Ricciardi, Alberto Albanese, Micol Avenali, Paolo Barone, Anna Rita Bentivoglio, Vincenzo Bonifati, Francesco Bove, Laura Bonanni, Livia Brusa, Cristina Cereda, Giovanni Cossu, Chiara Criscuolo, Giovanna Dati, Anna De Rosa, Roberto Eleopra, Giovanni Fabbrini, Laura Fadda, Manuela Garbellini, Brigida Minafra, Marco Onofrj, Claudio Pacchetti, Ilaria Palmieri, Maria Teresa Pellecchia, Martina Petracca, Marina Picillo, Antonio Pisani, Annamaria Vallelunga, Roberta Zangaglia, Alessio Di Fonzo, Francesca Morgante, Enza Maria Valente, null null
GBA-Related Parkinson's Disease: Dissection of Genotype-Phenotype Correlates in a Large Italian Cohort. Movement disorders : official journal of the Movement Disorder Society 35 (11) (2020)
Edoardo Monfrini, Pierluigi Tocco, Sara Bonato, Mattia Tosi, Valentina Melzi, Emanuele Frattini, Giulia Franco, Stefania Corti, Giacomo Pietro Comi, Nereo Bresolin, Alessio Di Fonzo
Expanding the genotypic and phenotypic spectrum of Beta-propeller protein-associated neurodegeneration. European journal of neurology 28 (3) (2020)

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Publication Activity (10 Years)

Top Topics

Top Venues

Edoardo Monfrini