Editorial: Myotonic Dystrophies: Developments in Research From Bench to Bedside

by Gabriella Silvestri, Gabriella Silvestri, Federica Montagnese
Published 2020-09-01

Nuclear Factor Erythroid 2-Related Factor 2 Activation Might Mitigate Clinical Symptoms in Friedreich’s Ataxia: Clues of an “Out-Brain Origin” of the Disease From a Family Study...

by Sara Petrillo, Massimo Santoro, Piergiorgio La Rosa, Alessia Perna, Maria Giovanna Gallo, Enrico Silvio Bertini, Gabriella Silvestri, Gabriella Silvestri, Fiorella Piemonte
Published 2021-02-01

High Prevalence and Gender-Related Differences of Gastrointestinal Manifestations in a Cohort of DM1 Patients: A Perspective, Cross-Sectional Study

by Alessia Perna, Daria Maccora, Salvatore Rossi, Tommaso Filippo Nicoletti, Maria Assunta Zocco, Vittorio Riso, Anna Modoni, Antonio Petrucci, Venanzio Valenza, Antonio Grieco, Luca Miele, Gabriella Silvestri, Gabriella Silvestri
Published 2020-06-01

Resveratrol corrects aberrant splicing of RYR1 pre-mRNA and Ca2+ signal in myotonic dystrophy type 1 myotubes

by Massimo Santoro, Roberto Piacentini, Alessia Perna, Eugenia Pisano, Anna Severino, Anna Modoni, Claudio Grassi, Gabriella Silvestri
Published 2020-01-01

Lesion distribution and substrate of white matter damage in myotonic dystrophy type 1: Comparison with multiple sclerosis

by Sara Leddy, Laura Serra, Davide Esposito, Camilla Vizzotto, Giovanni Giulietti, Gabriella Silvestri, Antonio Petrucci, Giovanni Meola, Leonardo Lopiano, Mara Cercignani, Marco Bozzali
Published 2021-01-01

A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia

by Sonia Hasan, Cecilia Bove, Gabriella Silvestri, Elide Mantuano, Anna Modoni, Liana Veneziano, Lara Macchioni, Therese Hunter, Gary Hunter, Mauro Pessia, Maria Cristina D’Adamo
Published 2017-07-01

Brain Connectomics’ Modification to Clarify Motor and Nonmotor Features of Myotonic Dystrophy Type 1

by Laura Serra, Matteo Mancini, Gabriella Silvestri, Antonio Petrucci, Marcella Masciullo, Barbara Spanò, Mario Torso, Chiara Mastropasqua, Manlio Giacanelli, Carlo Caltagirone, Mara Cercignani, Giovanni Meola, Marco Bozzali
Published 2016-01-01

Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience

by Vittorio Riso, Salvatore Rossi, Tommaso F. Nicoletti, Alessandra Tessa, Lorena Travaglini, Ginevra Zanni, Chiara Aiello, Alessia Perna, Melissa Barghigiani, Maria Grazia Pomponi, Filippo M. Santorelli, Gabriella Silvestri
Published 2021-02-01

Abnormal Cortical Thickness Is Associated With Deficits in Social Cognition in Patients With Myotonic Dystrophy Type 1

by Laura Serra, Guendalina Bianchi, Michela Bruschini, Giovanni Giulietti, Carlotta Di Domenico, Sabrina Bonarota, Antonio Petrucci, Gabriella Silvestri, Alessia Perna, Giovanni Meola, Carlo Caltagirone, Marco Bozzali, Marco Bozzali
Published 2020-02-01

Cerebello-Cortical Alterations Linked to Cognitive and Social Problems in Patients With Spastic Paraplegia Type 7: A Preliminary Study

by Michela Lupo, Giusy Olivito, Giusy Olivito, Silvia Clausi, Silvia Clausi, Libera Siciliano, Vittorio Riso, Marco Bozzali, Marco Bozzali, Filippo M. Santorelli, Gabriella Silvestri, Maria Leggio, Maria Leggio
Published 2020-02-01

"I Know that You Know that I Know": Neural Substrates Associated with Social Cognition Deficits in DM1 Patients.

by Laura Serra, Mara Cercignani, Michela Bruschini, Lisa Cipolotti, Matteo Mancini, Gabriella Silvestri, Antonio Petrucci, Elisabetta Bucci, Giovanni Antonini, Loretta Licchelli, Barbara Spanò, Manlio Giacanelli, Carlo Caltagirone, Giovanni Meola, Marco Bozzali
Published 2016-01-01

Translational control of polyamine metabolism by CNBP is required for Drosophila locomotor function

by Sonia Coni, Federica A Falconio, Marta Marzullo, Marzia Munafò, Benedetta Zuliani, Federica Mosti, Alessandro Fatica, Zaira Ianniello, Rosa Bordone, Alberto Macone, Enzo Agostinelli, Alessia Perna, Tanja Matkovic, Stephan Sigrist, Gabriella Silvestri, Gianluca Canettieri, Laura Ciapponi
Published 2021-09-01

Dysregulation of Circular RNAs in Myotonic Dystrophy Type 1

by Christine Voellenkle, Alessandra Perfetti, Matteo Carrara, Paola Fuschi, Laura Valentina Renna, Marialucia Longo, Simona Baghai Sain, Rosanna Cardani, Rea Valaperta, Gabriella Silvestri, Ivano Legnini, Irene Bozzoni, Denis Furling, Carlo Gaetano, Germana Falcone, Giovanni Meola, Fabio Martelli
Published 2019-04-01

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

by Angelica D'Amore, Angelica D'Amore, Alessandra Tessa, Carlo Casali, Maria Teresa Dotti, Alessandro Filla, Gabriella Silvestri, Gabriella Silvestri, Antonella Antenora, Guja Astrea, Melissa Barghigiani, Roberta Battini, Carla Battisti, Irene Bruno, Cristina Cereda, Clemente Dato, Giuseppe Di Iorio, Vincenzo Donadio, Monica Felicori, Nicola Fini, Chiara Fiorillo, Salvatore Gallone, Federica Gemignani, Gian Luigi Gigli, Claudio Graziano, Renzo Guerrini, Fiorella Gurrieri, Ariana Kariminejad, Maria Lieto, Charles Marques LourenḈo, Alessandro Malandrini, Paola Mandich, Paola Mandich, Christian Marcotulli, Francesco Mari, Luca Massacesi, Maria A. B. Melone, Andrea Mignarri, Roberta Milone, Olimpia Musumeci, Elena Pegoraro, Alessia Perna, Alessia Perna, Antonio Petrucci, Antonella Pini, Francesca Pochiero, Maria Roser Pons, Ivana Ricca, Salvatore Rossi, Salvatore Rossi, Marco Seri, Franco Stanzial, Francesca Tinelli, Antonio Toscano, Mariarosaria Valente, Antonio Federico, Anna Rubegni, Filippo Maria Santorelli
Published 2018-12-01

An Italian Neurology Outpatient Clinic Facing SARS-CoV-2 Pandemic: Data From 2,167 Patients

by Carla Piano, Enrico Di Stasio, Enrico Di Stasio, Guido Primiano, Delfina Janiri, Delfina Janiri, Marco Luigetti, Marco Luigetti, Giovanni Frisullo, Catello Vollono, Catello Vollono, Matteo Lucchini, Matteo Lucchini, Valerio Brunetti, Mauro Monforte, Valeria Guglielmi, Giacomo Della Marca, Giacomo Della Marca, Amelia Evoli, Amelia Evoli, Camillo Marra, Camillo Marra, Massimiliano Mirabella, Massimiliano Mirabella, Davide Quaranta, Davide Quaranta, Enzo Ricci, Enzo Ricci, Serenella Servidei, Serenella Servidei, Gabriella Silvestri, Gabriella Silvestri, Simone Bellavia, Sara Bortolani, Francesco Bove, Riccardo Di Iorio, Andrea Di Paolantonio, Danilo Genovese, Tamara Ialongo, Maria Rita Lo Monaco, Jessica Marotta, Agata Katia Patanella, Alessia Perna, Martina Petracca, Giorgia Presicce, Vittorio Riso, Eleonora Rollo, Angela Romano, Marina Romozzi, Cristina Sancricca, Irene Scala, Gregorio Spagni, Marcella Solito, Luca Tricoli, Paola Zinzi, Paolo Calabresi, Paolo Calabresi, Anna Rita Bentivoglio, Anna Rita Bentivoglio
Published 2020-05-01

NGS in Hereditary Ataxia: When Rare Becomes Frequent

by Daniele Galatolo, Giovanna De Michele, Gabriella Silvestri, Vincenzo Leuzzi, Carlo Casali, Olimpia Musumeci, Antonella Antenora, Guja Astrea, Melissa Barghigiani, Roberta Battini, Carla Battisti, Caterina Caputi, Ettore Cioffi, Giuseppe De Michele, Maria Teresa Dotti, Tommasina Fico, Chiara Fiorillo, Serena Galosi, Maria Lieto, Alessandro Malandrini, Marina A. B. Melone, Andrea Mignarri, Gemma Natale, Elena Pegoraro, Antonio Petrucci, Ivana Ricca, Vittorio Riso, Salvatore Rossi, Anna Rubegni, Arianna Scarlatti, Francesca Tinelli, Rosanna Trovato, Gioacchino Tedeschi, Alessandra Tessa, Alessandro Filla, Filippo Maria Santorelli
Published 2021-08-01