Dramatic improvement of myotonia permanens with flecainide: a two-case report of a possible bench-to-bedside pharmacogenetics strategy

Por Desaphy, Jean-François, Modoni, Anna, LoMonaco, Mauro, Camerino, Diana Conte
Publicado em 2012

Long-Term Safety and Usefulness of Mexiletine in a Large Cohort of Patients Affected by Non-dystrophic Myotonias

Por Modoni, Anna, D'Amico, Adele, Primiano, Guido, Capozzoli, Fiorentino, Desaphy, Jean-François, Lo Monaco, Mauro
Publicado no Front Neurol (2020)

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 no Neural Regen Res (2020)

Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes()

Por Desaphy, Jean-François, Gramegna, Gianluca, Altamura, Concetta, Dinardo, Maria Maddalena, Imbrici, Paola, George, Alfred L., Modoni, Anna, LoMonaco, Mauro, Conte Camerino, Diana
Publicado em 2013

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 no Neurology (2016)

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 no Sci Rep (2017)

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 no Front Neurol (2020)

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 no Front Neurol (2020)

Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors.

Por Bianchi, Maria Laura Ester, Leoncini, Emanuele, Masciullo, Marcella, Modoni, Anna, Gadalla, Shahinaz M., Massa, Roberto, Rastelli, Emanuele, Terracciano, Chiara, Antonini, Giovanni, Bucci, Elisabetta, Petrucci, Antonio, Costanzi, Sandro, Santoro, Massimo, Boccia, Stefania, Silvestri, Gabriella
Publicado no J Neurol (2016)