Case report: Sodium and chloride muscle channelopathy coexistence: A complicated phenotype and a challenging diagnosis

por Pagliarani, Serena, Meola, Giovanni, Filareti, Melania, Comi, Giacomo Pietro, Lucchiari, Sabrina
Publicado 2022

Glucose-free/high-protein diet improves hepatomegaly and exercise intolerance in glycogen storage disease type III mice

por Pagliarani, Serena, Lucchiari, Sabrina, Ulzi, Gianna, Ripolone, Michela, Violano, Raffaella, Fortunato, Francesco, Bordoni, Andreina, Corti, Stefania, Moggio, Maurizio, Bresolin, Nereo, Comi, Giacomo P.
Publicado 2018

Translational approach to address therapy in myotonia permanens due to a new SCN4A mutation

por Desaphy, Jean-François, Carbonara, Roberta, D'Amico, Adele, Modoni, Anna, Roussel, Julien, Imbrici, Paola, Pagliarani, Serena, Lucchiari, Sabrina, Lo Monaco, Mauro, Conte Camerino, Diana
Publicado 2016

Sodium Channel Myotonia Due to Novel Mutations in Domain I of Na(v)1.4

por Pagliarani, Serena, Lucchiari, Sabrina, Scarlato, Marina, Redaelli, Elisa, Modoni, Anna, Magri, Francesca, Fossati, Barbara, Previtali, Stefano C., Sansone, Valeria A., Lecchi, Marzia, Lo Monaco, Mauro, Meola, Giovanni, Comi, Giacomo P.
Publicado 2020