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

por Silvestri, Gabriella, Montagnese, Federica
Publicado 2020

Fluid Biomarkers of Central Nervous System (CNS) Involvement in Myotonic Dystrophy Type 1 (DM1)

por Rossi, Salvatore, Silvestri, Gabriella
Publicado 2023

Resveratrol corrects aberrant splicing of RYR1 pre-mRNA and Ca(2+) signal in myotonic dystrophy type 1 myotubes

por Santoro, Massimo, Piacentini, Roberto, Perna, Alessia, Pisano, Eugenia, Severino, Anna, Modoni, Anna, Grassi, Claudio, Silvestri, Gabriella
Publicado 2020

Novel TOP3A Variant Associated With Mitochondrial Disease: Expanding the Clinical Spectrum of Topoisomerase III Alpha–Related Diseases

por Primiano, Guido, Torraco, Alessandra, Verrigni, Daniela, Sabino, Andrea, Bertini, Enrico, Carrozzo, Rosalba, Silvestri, Gabriella, Servidei, Serenella
Publicado 2022

Neurological Erdheim–Chester Disease Manifesting with Subacute or Progressive Cerebellar Ataxia: Novel Case Series and Review of the Literature

por Riso, Vittorio, Nicoletti, Tommaso Filippo, Rossi, Salvatore, Vita, Maria Gabriella, Alessia, Perna, Di Natale, Daniele, Silvestri, Gabriella
Publicado 2022

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

por Lupo, Michela, Olivito, Giusy, Clausi, Silvia, Siciliano, Libera, Riso, Vittorio, Bozzali, Marco, Santorelli, Filippo M., Silvestri, Gabriella, Leggio, Maria
Publicado 2020

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...

por Petrillo, Sara, Santoro, Massimo, La Rosa, Piergiorgio, Perna, Alessia, Gallo, Maria Giovanna, Bertini, Enrico Silvio, Silvestri, Gabriella, Piemonte, Fiorella
Publicado 2021

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

por Leddy, Sara, Serra, Laura, Esposito, Davide, Vizzotto, Camilla, Giulietti, Giovanni, Silvestri, Gabriella, Petrucci, Antonio, Meola, Giovanni, Lopiano, Leonardo, Cercignani, Mara, Bozzali, Marco
Publicado 2021

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

por Hasan, Sonia, Bove, Cecilia, Silvestri, Gabriella, Mantuano, Elide, Modoni, Anna, Veneziano, Liana, Macchioni, Lara, Hunter, Therese, Hunter, Gary, Pessia, Mauro, D’Adamo, Maria Cristina
Publicado 2017

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

por Serra, Laura, Bianchi, Guendalina, Bruschini, Michela, Giulietti, Giovanni, Domenico, Carlotta Di, Bonarota, Sabrina, Petrucci, Antonio, Silvestri, Gabriella, Perna, Alessia, Meola, Giovanni, Caltagirone, Carlo, Bozzali, Marco
Publicado 2020

Elevated serum Neurofilament Light chain (NfL) as a potential biomarker of neurological involvement in Myotonic Dystrophy type 1 (DM1)

por Nicoletti, Tommaso F., Rossi, Salvatore, Vita, Maria Gabriella, Perna, Alessia, Guerrera, Gisella, Lino, Federica, Iacovelli, Chiara, Di Natale, Daniele, Modoni, Anna, Battistini, Luca, Silvestri, Gabriella
Publicado 2022

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

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

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

por Perna, Alessia, Maccora, Daria, Rossi, Salvatore, Nicoletti, Tommaso Filippo, Zocco, Maria Assunta, Riso, Vittorio, Modoni, Anna, Petrucci, Antonio, Valenza, Venanzio, Grieco, Antonio, Miele, Luca, Silvestri, Gabriella
Publicado 2020

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

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

A next generation sequencing‐based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21

por Riso, Vittorio, Galatolo, Daniele, Barghigiani, Melissa, Galosi, Serena, Tessa, Alessandra, Ricca, Ivana, Rossi, Salvatore, Caputi, Caterina, Cioffi, Ettore, Leuzzi, Vincenzo, Casali, Carlo, Santorelli, Filippo M., Silvestri, Gabriella
Publicado 2021

“I Know that You Know that I Know”: Neural Substrates Associated with Social Cognition Deficits in DM1 Patients

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

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

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

Dysregulation of Circular RNAs in Myotonic Dystrophy Type 1

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

POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients

por Di Donato, Ilaria, Gallo, Antonio, Ricca, Ivana, Fini, Nicola, Silvestri, Gabriella, Gurrieri, Fiorella, Cirillo, Mario, Cerase, Alfonso, Natale, Gemma, Matrone, Federica, Riso, Vittorio, Melone, Mariarosa Anna Beatrice, Tessa, Alessandra, De Michele, Giovanna, Federico, Antonio, Filla, Alessandro, Dotti, Maria Teresa, Santorelli, Filippo Maria
Publicado 2021

Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations

por De Michele, Giovanna, Galatolo, Daniele, Galosi, Serena, Mignarri, Andrea, Silvestri, Gabriella, Casali, Carlo, Leuzzi, Vincenzo, Ricca, Ivana, Barghigiani, Melissa, Tessa, Alessandra, Cioffi, Ettore, Caputi, Caterina, Riso, Vittorio, Dotti, Maria Teresa, Saccà, Francesco, De Michele, Giuseppe, Cocozza, Sirio, Filla, Alessandro, Santorelli, Filippo M.
Publicado 2021