CACNA1A-p.Thr501Met mutation associated with familial hemiplegic migraine: a family report

by Marina Romozzi, Guido Primiano, Eleonora Rollo, Lorena Travaglini, Paolo Calabresi, Serenella Servidei, Catello Vollono
Published 2021-07-01

Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias

by Giacomo Garone, Alessandro Capuano, Lorena Travaglini, Federica Graziola, Fabrizia Stregapede, Ginevra Zanni, Federico Vigevano, Enrico Bertini, Francesco Nicita
Published 2020-05-01

Frataxin Deficiency Leads to Reduced Expression and Impaired Translocation of NF-E2-Related Factor (Nrf2) in Cultured Motor Neurons

by Enrico Bertini, Barbara Carletti, Sara Petrillo, Emanuela Piermarini, Chiara Priori, Lorena Travaglini, Stefania Petrini, Valentina D'Oria, Fiorella Piemonte
Published 2013-04-01

Frataxin Silencing Inactivates Mitochondrial Complex I in NSC34 Motoneuronal Cells and Alters Glutathione Homeostasis

by Barbara Carletti, Emanuela Piermarini, Giulia Tozzi, Lorena Travaglini, Alessandra Torraco, Anna Pastore, Marco Sparaco, Sara Petrillo, Rosalba Carrozzo, Enrico Bertini, Fiorella Piemonte
Published 2014-04-01

Diagnostic Yield of a Targeted Next-Generation Sequencing Gene Panel for Pediatric-Onset Movement Disorders: A 3-Year Cohort Study

by Federica Graziola, Federica Graziola, Giacomo Garone, Giacomo Garone, Fabrizia Stregapede, Fabrizia Stregapede, Luca Bosco, Federico Vigevano, Paolo Curatolo, Enrico Bertini, Lorena Travaglini, Alessandro Capuano
Published 2019-10-01

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

SMA-miRs (miR-181a-5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples

by Emanuela Abiusi, Paola Infante, Cinzia Cagnoli, Ludovica Lospinoso Severini, Marika Pane, Giorgia Coratti, Maria Carmela Pera, Adele D'Amico, Federica Diano, Agnese Novelli, Serena Spartano, Stefania Fiori, Giovanni Baranello, Isabella Moroni, Marina Mora, Maria Barbara Pasanisi, Krizia Pocino, Loredana Le Pera, Davide D'Amico, Lorena Travaglini, Francesco Ria, Claudio Bruno, Denise Locatelli, Enrico Silvio Bertini, Lucia Ovidia Morandi, Eugenio Mercuri, Lucia Di Marcotullio, Francesco Danilo Tiziano
Published 2021-09-01

The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study

by Marcella Neri, Rachele Rossi, Cecilia Trabanelli, Antonio Mauro, Rita Selvatici, Maria Sofia Falzarano, Noemi Spedicato, Alice Margutti, Paola Rimessi, Fernanda Fortunato, Marina Fabris, Francesca Gualandi, Giacomo Comi, Silvana Tedeschi, Manuela Seia, Chiara Fiorillo, Monica Traverso, Claudio Bruno, Emiliano Giardina, Maria Rosaria Piemontese, Giuseppe Merla, Milena Cau, Monica Marica, Carmela Scuderi, Eugenia Borgione, Alessandra Tessa, Guia Astrea, Filippo Maria Santorelli, Luciano Merlini, Marina Mora, Pia Bernasconi, Sara Gibertini, Valeria Sansone, Tiziana Mongini, Angela Berardinelli, Antonella Pini, Rocco Liguori, Massimiliano Filosto, Sonia Messina, Gianluca Vita, Antonio Toscano, Giuseppe Vita, Marika Pane, Serenella Servidei, Elena Pegoraro, Luca Bello, Lorena Travaglini, Enrico Bertini, Adele D'Amico, Manuela Ergoli, Luisa Politano, Annalaura Torella, Vincenzo Nigro, Eugenio Mercuri, Eugenio Mercuri, Alessandra Ferlini, Alessandra Ferlini
Published 2020-03-01