Alessio di Fonzo (Alessio Di Fonzo)

Scopus Author ID Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 61

Top Venues

Cells

Movement disorders : official journal of the Movement Disorder Society

Movement disorders clinical practice

Neurology. Genetics

Ospedale Maggiore Policlinico

Erasmus Universiteit Rotterdam (PHD)

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

Affiliation History

Ospedale Maggiore Policlinico

Italy

Assistant Neurologist :: Neurology

Fondazione Salvatore Maugeri Centro di Milano

Italy

Assistant MD :: Neurorehabilitation

Università degli Studi di Milano Dipartimento di Scienze Neurologiche

Italy

Temporary Research Assistant

Education History

Erasmus Universiteit Rotterdam Oct 10 2005 - Sep 30 2009

Netherlands

PHD :: Clinical Genetics

Publications

Poornima Jayadev Menon, Sara Sambin, Baptiste Criniere-Boizet, Thomas Courtin, Christelle Tesson, Fanny Casse, Melanie Ferrien, Louise-Laure Mariani, Stephanie Carvalho, Francois-Xavier Lejeune, Sana Rebbah, Gaspard Martet, Marion Houot, Aymeric Lanore, Graziella Mangone, Emmanuel Roze, Marie Vidailhet, Jan Aasly, Ziv Gan Or, Eric Yu, Yves Dauvilliers, Alexander Zimprich, Volker Tomantschger, Walter Pirker, Ignacio Alvarez, Pau Pastor, Alessio di Fonzo, Kailash P Bhatia, Francesca Magrinelli, Henry Houlden, Raquel Real, Andrea Quattrone, Patricia Limousin, Prasad Korlipara, Thomas Foltynie, Donald Grosset, Nigel Williams, Derek P Narendra, Hsin-Pin Lin, Carna Jovanovic, Marina Svetel, Timothy Lynch, Amy Gallagher, Wim Vandenberghe, Thomas Gasser, Kathrin Brockman, Huw R Morris, Max Borsche, Christine Klein, Olga Corti, Alexis Brice, Suzanne Lesage, Jean-Christophe Corvol, null null
Genotype-phenotype correlation in PRKN-associated Parkinson's disease. NPJ Parkinson's disease 10 (1) (2024)
Poornima Jayadev Menon, Sara Sambin, Baptiste Criniere-Boizet, Thomas Courtin, Christelle Tesson, Fanny Casse, Melanie Ferrien, Louise-Laure Mariani, Stephanie Carvalho, Francois-Xavier Lejeune, Sana Rebbah, Gaspard Martet, Marion Houot, Aymeric Lanore, Graziella Mangone, Emmanuel Roze, Marie Vidailhet, Jan Aasly, Ziv Gan Or, Eric Yu, Yves Dauvilliers, Alexander Zimprich, Volker Tomantschger, Walter Pirker, Ignacio Alvarez, Pau Pastor, Alessio di Fonzo, Kailash P Bhatia, Francesca Magrinelli, Henry Houlden, Raquel Real, Andrea Quattrone, Patricia Limousin, Prasad Korlipara, Thomas Foltynie, Donald Grosset, Nigel Williams, Derek P Narendra, Hsin-Pin Lin, Carna Jovanovic, Marina Svetel, Timothy Lynch, Amy Gallagher, Wim Vandenberghe, Thomas Gasser, Kathrin Brockman, Huw R Morris, Max Borsche, Christine Klein, Olga Corti, Alexis Brice, Suzanne Lesage, Jean-Christophe Corvol, null null
Genotype-phenotype correlation in PRKN-associated Parkinson's disease. NPJ Parkinson's disease 10 (1) (2024)
Federica Arienti, Giovanni Casazza, Giulia Franco, Giulia Lazzeri, Edoardo Monfrini, Alessandro Di Maio, Roberto Erro, Paolo Barone, Filippo Tamma, Elena Caputo, Maria Antonietta Volontè, Laura Cacciaguerra, Andrea Pilotto, Alessandro Padovani, Cristoforo Comi, Luca Magistrelli, Franco Valzania, Francesco Cavallieri, Laura Avanzino, Roberta Marchese, Mariachiara Sensi, Giorgia Carroli, Roberto Eleopra, Roberto Cilia, Francesca Spagnolo, Alessandro Tessitore, Rosa De Micco, Roberto Ceravolo, Giovanni Palermo, Maria Chiara Malaguti, Leonardo Lopiano, Pierluigi Tocco, Chiara Sorbera, Michele Tinazzi, Andrea Ciammola, Donatella Ottaviani, Enza Maria Valente, Alberto Albanese, Fabio Blandini, Margherita Canesi, Angelo Antonini, Miryam Carecchio, Vincenza Fetoni, Carlo Colosimo, Daniele Volpe, Nicola Tambasco, Giovanni Cossu, Mario Zappia, null null, Alessio di Fonzo
Family History in Parkinson's Disease: A National Cross-Sectional Study. Movement disorders clinical practice (2024)
Poornima Jayadev Menon, Sara Sambin, Baptiste Criniere-Boizet, Thomas Courtin, Christelle Tesson, Fanny Casse, Melanie Ferrien, Louise-Laure Mariani, Stephanie Carvalho, Francois-Xavier Lejeune, Sana Rebbah, Gaspard Martet, Marion Houot, Aymeric Lanore, Graziella Mangone, Emmanuel Roze, Marie Vidailhet, Jan Aasly, Ziv Gan Or, Eric Yu, Yves Dauvilliers, Alexander Zimprich, Volker Tomantschger, Walter Pirker, Ignacio Alvarez, Pau Pastor, Alessio di Fonzo, Kailash P Bhatia, Francesca Magrinelli, Henry Houlden, Raquel Real, Andrea Quattrone, Patricia Limousin, Prasad Korlipara, Thomas Foltynie, Donald Grosset, Nigel Williams, Derek P Narendra, Hsin-Pin Lin, Carna Jovanovic, Marina Svetel, Timothy Lynch, Amy Gallagher, Wim Vandenberghe, Thomas Gasser, Kathrin Brockman, Huw R Morris, Max Borsche, Christine Klein, Olga Corti, Alexis Brice, Suzanne Lesage, Jean-Christophe Corvol, null null
Genotype-phenotype correlation in PRKN-associated Parkinson's disease. NPJ Parkinson's disease 10 (1) (2024)
Maria Felice Ghilardi, Angelo Quartarone, Alessandro Di Rocco, Rocco Salvatore Calabrò, Sheng Luo, Hongliang Liu, Monica Norcini, Margherita Canesi, Veronica Cian, Marianna Zarucchi, Paola Ortelli, Daniele Volpe, Leila Bakdounes, Davide Castelli, Alessio di Fonzo, Giulia Franco, Emanuele Frattini, Laura Avanzino, Elisa Pelosin, Carla Ogliastro, Roberto Ceravolo, Giovanni Palermo, Luca Tommasini, Daniela Frosini, Lucilla Parnetti, Nicola Tambasco, Pasquale Nigro, Simone Simoni, Peter Schmidt
Supplementing Best Care with Specialized Rehabilitation Treatment in Parkinson's Disease: A Retrospective Study by Different Expert Centers. Journal of clinical medicine 13 (10) (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)
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)
Poornima Jayadev Menon, Sara Sambin, Baptiste Criniere-Boizet, Thomas Courtin, Christelle Tesson, Fanny Casse, Melanie Ferrien, Louise-Laure Mariani, Stephanie Carvalho, Francois-Xavier Lejeune, Sana Rebbah, Gaspard Martet, Marion Houot, Aymeric Lanore, Graziella Mangone, Emmanuel Roze, Marie Vidailhet, Jan Aasly, Ziv Gan Or, Eric Yu, Yves Dauvilliers, Alexander Zimprich, Volker Tomantschger, Walter Pirker, Ignacio Alvarez, Pau Pastor, Alessio di Fonzo, Kailash P Bhatia, Francesca Magrinelli, Henry Houlden, Raquel Real, Andrea Quattrone, Patricia Limousin, Prasad Korlipara, Thomas Foltynie, Donald Grosset, Nigel Williams, Derek P Narendra, Hsin-Pin Lin, Carna Jovanovic, Marina Svetel, Timothy Lynch, Amy Gallagher, Wim Vandenberghe, Thomas Gasser, Kathrin Brockman, Huw R Morris, Max Borsche, Christine Klein, Olga Corti, Alexis Brice, Suzanne Lesage, Jean-Christophe Corvol, null null
Genotype-phenotype correlation in PRKN-associated Parkinson's disease. NPJ Parkinson's disease 10 (1) (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)
Maria Felice Ghilardi, Angelo Quartarone, Alessandro Di Rocco, Rocco Salvatore Calabrò, Sheng Luo, Hongliang Liu, Monica Norcini, Margherita Canesi, Veronica Cian, Marianna Zarucchi, Paola Ortelli, Daniele Volpe, Leila Bakdounes, Davide Castelli, Alessio di Fonzo, Giulia Franco, Emanuele Frattini, Laura Avanzino, Elisa Pelosin, Carla Ogliastro, Roberto Ceravolo, Giovanni Palermo, Luca Tommasini, Daniela Frosini, Lucilla Parnetti, Nicola Tambasco, Pasquale Nigro, Simone Simoni, Peter Schmidt
Supplementing Best Care with Specialized Rehabilitation Treatment in Parkinson's Disease: A Retrospective Study by Different Expert Centers. Journal of clinical medicine 13 (10) (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)
Lisa M Henkel, Svenja Kankowski, Thiemo M Moellenkamp, Nadine J Smandzich, Sigrid Schwarz, Alessio di Fonzo, Gudrun Göhring, Günter U Höglinger, Florian Wegner
iPSC-Derived Striatal Medium Spiny Neurons from Patients with Multiple System Atrophy Show Hypoexcitability and Elevated α-Synuclein Release. Cells 12 (2) (2023)
Philip Harrer, Matej Skorvanek, Volker Kittke, Ivana Dzinovic, Friederike Borngräber, Mirja Thomsen, Vanessa Mandel, Tatiana Svorenova, Miriama Ostrozovicova, Kristina Kulcsarova, Riccardo Berutti, Hauke Busch, Fabian Ott, Robert Kopajtich, Holger Prokisch, Kishore Raj Kumar, Niccolò Emanuele Mencacci, Manju A Kurian, Alessio di Fonzo, Sylvia Boesch, Andrea A Kühn, Ulrike Blümlein, Katja Lohmann, Bernhard Haslinger, David Weise, Robert Jech, Juliane Winkelmann, Michael Zech
Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction. Movement disorders : official journal of the Movement Disorder Society (2023)
Daria Messelodi, Silvia Strocchi, Salvatore Nicola Bertuccio, Pascale Baden, Valentina Indio, Federico Manuel Giorgi, Alberto Taddia, Salvatore Serravalle, Sabrina Valente, Alessio di Fonzo, Emanuele Frattini, Roberto Bernardoni, Annalisa Pession, Daniela Grifoni, Michela Deleidi, Annalisa Astolfi, Andrea Pession
Neuronopathic Gaucher disease models reveal defects in cell growth promoted by Hippo pathway activation. Communications biology 6 (1) (2023)
Marco Percetti, Edoardo Monfrini, Leonardo Caporali, Raffaella Minardi, Valerio Carelli, Enza Maria Valente, Alessio di Fonzo
Reply to: "Lack of Association between TWNK Rare Variants and Parkinson's Disease in a Chinese Cohort". Movement disorders : official journal of the Movement Disorder Society 38 (4) (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)
Lisa M Henkel, Svenja Kankowski, Thiemo M Moellenkamp, Nadine J Smandzich, Sigrid Schwarz, Alessio di Fonzo, Gudrun Göhring, Günter U Höglinger, Florian Wegner
iPSC-Derived Striatal Medium Spiny Neurons from Patients with Multiple System Atrophy Show Hypoexcitability and Elevated α-Synuclein Release. Cells 12 (2) (2023)
Michele Dei Cas, Sara Casati, Gabriella Roda, Sergio Pablo Sardi, Rita Paroni, Alessio di Fonzo, Marco Trinchera
A sensitive method for determining UDP-glucose: ceramide glucosyltransferase (UGCG) activity in biological samples using deuterated glucosylceramide as acceptor substrate. Glycobiology 33 (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)
Roberto Cilia, Emanuele Cereda, Marco Piatti, Andrea Pilotto, Luca Magistrelli, Nico Golfrè Andreasi, Salvatore Bonvegna, Elena Contaldi, Francesca Mancini, Gabriele Imbalzano, Rosa De Micco, Fabiana Colucci, Arianna Braccia, Gabriele Bellini, Francesco Brovelli, Roberta Zangaglia, Giulia Lazzeri, Maria Claudia Russillo, Enrica Olivola, Chiara Sorbera, Viviana Cereda, Patrizia Pinto, Patrizia Sucapane, Giorgio Gelosa, Mario Meloni, Francesca Pistoia, Maria Sessa, Margherita Canesi, Nicola Modugno, Claudio Pacchetti, Laura Brighina, Maria Teresa Pellecchia, Roberto Ceravolo, Mariachiara Sensi, Maurizio Zibetti, Cristoforo Comi, Alessandro Padovani, Anna L Zecchinelli, Alessio di Fonzo, Alessandro Tessitore, Francesca Morgante, Roberto Eleopra
Levodopa Equivalent Dose of Safinamide: A Multicenter, Longitudinal, Case-Control Study. Movement disorders clinical practice 10 (4) (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)
Alessio di Fonzo, Marco Percetti, Edoardo Monfrini, Ilaria Palmieri, Alberto Albanese, Micol Avenali, Anna Bartoletti-Stella, Fabio Blandini, Gloria Brescia, Giovanna Calandra-Buonaura, Rosa Campopiano, Sabina Capellari, Isabel Colangelo, Giacomo Pietro Comi, Giada Cuconato, Rosangela Ferese, Caterina Galandra, Stefano Gambardella, Barbara Garavaglia, Andrea Gaudio, Emiliano Giardina, Federica Invernizzi, Paola Mandich, Rossana Mineri, Celeste Panteghini, Chiara Reale, Lucia Trevisan, Stefania Zampatti, Pietro Cortelli, Enza Maria Valente, null null
Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study. Movement disorders : official journal of the Movement Disorder Society (2023)
Lisa M Henkel, Svenja Kankowski, Thiemo M Moellenkamp, Nadine J Smandzich, Sigrid Schwarz, Alessio di Fonzo, Gudrun Göhring, Günter U Höglinger, Florian Wegner
iPSC-Derived Striatal Medium Spiny Neurons from Patients with Multiple System Atrophy Show Hypoexcitability and Elevated α-Synuclein Release. Cells 12 (2) (2023)
Lisa M Henkel, Svenja Kankowski, Thiemo M Moellenkamp, Nadine J Smandzich, Sigrid Schwarz, Alessio di Fonzo, Gudrun Göhring, Günter U Höglinger, Florian Wegner
iPSC-Derived Striatal Medium Spiny Neurons from Patients with Multiple System Atrophy Show Hypoexcitability and Elevated α-Synuclein Release. Cells 12 (2) (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)
Michele Dei Cas, Sara Casati, Gabriella Roda, Sergio Pablo Sardi, Rita Paroni, Alessio di Fonzo, Marco Trinchera
A sensitive method for determining UDP-glucose: ceramide glucosyltransferase (UGCG) activity in biological samples using deuterated glucosylceramide as acceptor substrate. Glycobiology 33 (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)
Giacomo Bitetto, Gianluca Lopez, Dario Ronchi, Alessandra Pittaro, Valentina Melzi, Erika Peverelli, Fulvia Milena Cribiù, Giacomo P Comi, Giovanna Mantovani, Alessio di Fonzo
SCARB1 downregulation in adrenal insufficiency with Allgrove syndrome. Orphanet journal of rare diseases 18 (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)
Maria Kedariti, Emanuele Frattini, Pascale Baden, Susanna Cogo, Laura Civiero, Elena Ziviani, Gianluca Zilio, Federico Bertoli, Massimo Aureli, Alice Kaganovich, Mark R Cookson, Leonidas Stefanis, Matthew Surface, Michela Deleidi, Alessio di Fonzo, Roy N Alcalay, Hardy Rideout, Greggio Elisa, Nicoletta Plotegher
LRRK2 kinase activity regulates GCase level and enzymatic activity differently depending on cell type in Parkinson's disease. NPJ Parkinson's disease 8 (1) (2022)
Maria Luisa Zedde, Rosario Pascarella, Francesco Cavallieri, Francesca Romana Pezzella, Sara Grisanti, Alessio di Fonzo, Franco Valzania
Anderson-Fabry Disease: A New Piece of the Lysosomal Puzzle in Parkinson Disease? Biomedicines 10 (12) (2022)
Giulia Lunghi, Emma Veronica Carsana, Nicoletta Loberto, Laura Cioccarelli, Simona Prioni, Laura Mauri, Rosaria Bassi, Stefano Duga, Letizia Straniero, Rosanna Asselta, Giulia Soldà, Alessio di Fonzo, Emanuele Frattini, Manuela Magni, Nara Liessi, Andrea Armirotti, Elena Ferrari, Maura Samarani, Massimo Aureli
β-Glucocerebrosidase Deficiency Activates an Aberrant Lysosome-Plasma Membrane Axis Responsible for the Onset of Neurodegeneration. Cells 11 (15) (2022)
Alessio di Fonzo, Michael Zech
Nuclear Pore Complex Dysfunction in Dystonia Pathogenesis: Nucleoporins in the Spotlight. Movement disorders : official journal of the Movement Disorder Society (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)
Maria Luisa Zedde, Rosario Pascarella, Francesco Cavallieri, Francesca Romana Pezzella, Sara Grisanti, Alessio di Fonzo, Franco Valzania
Anderson-Fabry Disease: A New Piece of the Lysosomal Puzzle in Parkinson Disease? Biomedicines 10 (12) (2022)
Alessandra Consonni, Martina Miglietti, Chiara Maria Giulia De Luca, Federico Angelo Cazzaniga, Arianna Ciullini, Ilaria Linda Dellarole, Giuseppe Bufano, Alessio di Fonzo, Giorgio Giaccone, Fulvio Baggi, Fabio Moda
Approaching the Gut and Nasal Microbiota in Parkinson's Disease in the Era of the Seed Amplification Assays. Brain sciences 12 (11) (2022)
Angelica Carandina, Giulia Lazzeri, Davide Villa, Alessio di Fonzo, Sara Bonato, Nicola Montano, Eleonora Tobaldini
Targeting the Autonomic Nervous System for Risk Stratification, Outcome Prediction and Neuromodulation in Ischemic Stroke. International journal of molecular sciences 22 (5) (2021)
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)
Alberto Benussi, Valentina Cantoni, Marta Manes, Ilenia Libri, Valentina Dell'Era, Abhishek Datta, Chris Thomas, Camilla Ferrari, Alessio di Fonzo, Roberto Fancellu, Mario Grassi, Alfredo Brusco, Antonella Alberici, Barbara Borroni
Motor and cognitive outcomes of cerebello-spinal stimulation in neurodegenerative ataxia. Brain : a journal of neurology 144 (8) (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)
Dario Ronchi, Edoardo Monfrini, Sara Bonato, Veronica Mancinelli, Claudia Cinnante, Sabrina Salani, Andreina Bordoni, Patrizia Ciscato, Francesco Fortunato, Marianna Villa, Alessio di Fonzo, Stefania Corti, Nereo Bresolin, Giacomo Pietro Comi
Dystonia-ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency. Annals of clinical and translational neurology 7 (5) (2020)
Arianna Manini, Tommaso Bocci, Alice Migazzi, Edoardo Monfrini, Dario Ronchi, Giulia Franco, Anna De Rosa, Ferdinando Sartucci, Alberto Priori, Stefania Corti, Giacomo Pietro Comi, Nereo Bresolin, Manuela Basso, Alessio di Fonzo
A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation. BMC neurology 20 (1) (2020)
Giacomo Bitetto, Alessio di Fonzo
Nucleo-cytoplasmic transport defects and protein aggregates in neurodegeneration. Translational neurodegeneration 9 (1) (2020)
Letizia Straniero, Rosanna Asselta, Salvatore Bonvegna, Valeria Rimoldi, Giada Melistaccio, Giulia Soldà, Massimo Aureli, Matteo Giovanni Della Porta, Ugo Lucca, Alessio di Fonzo, Anna Zecchinelli, Gianni Pezzoli, Roberto Cilia, Stefano Duga
The SPID-GBA study: Sex distribution, Penetrance, Incidence, and Dementia in GBA-PD. Neurology. Genetics 6 (6) (2020)
Giacomo Monzio Compagnoni, Alessio di Fonzo
Understanding the pathogenesis of multiple system atrophy: state of the art and future perspectives. Acta neuropathologica communications 7 (1) (2019)
Letizia Straniero, Valeria Rimoldi, Maura Samarani, Stefano Goldwurm, Alessio di Fonzo, Rejko Krüger, Michela Deleidi, Massimo Aureli, Giulia Soldà, Stefano Duga, Rosanna Asselta
The GBAP1 pseudogene acts as a ceRNA for the glucocerebrosidase gene GBA by sponging miR-22-3p. Scientific reports 7 (1) (2017)

Alessio di Fonzo.css-eqlu8i{font-size:small;padding-left:4px;} (Alessio Di Fonzo)

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Alessio di Fonzo (Alessio Di Fonzo)