Canine Lafora Disease: An Unstable Repeat Expansion Disorder
von Klopmann, Thilo, Ahonen, Saija, Espadas-Santiuste, Irene, Matiasek, Kaspar, Sanchez-Masian, Daniel, Rupp, Stefan, Vandenberghe, Helene, Rose, Jeremy, Wang, Travis, Wang, Peixiang, Minassian, Berge Arakel, Rusbridge, Clare
Published in Life (Basel, Switzerland) (14.07.2021)
Published in Life (Basel, Switzerland) (14.07.2021)
Get full text
Journal Article
Emerging treatments for progressive myoclonus epilepsies
Riva, Antonella, Guglielmo, Alberto, Balagura, Ganna, Marchese, Francesca, Amadori, Elisabetta, Iacomino, Michele, Minassian, Berge Arakel, Zara, Federico, Striano, Pasquale
Published in Expert review of neurotherapeutics (02.04.2020)
Published in Expert review of neurotherapeutics (02.04.2020)
Get more information
Journal Article
Ocular phenotype and electroretinogram abnormalities in Lafora disease and correlation with disease stage
Orsini, Alessandro, Ferrari, Daniele, Riva, Antonella, Santangelo, Andrea, Macrì, Angelo, Freri, Elena, Canafoglia, Laura, D’Aniello, Alfredo, Di Gennaro, Giancarlo, Massimetti, Gabriele, Minetti, Carlo, Zara, Federico, Michelucci, Roberto, Tumber, Anupreet, Vincent, Ajoy, Minassian, Berge Arakel, Striano, Pasquale
Published in Journal of neurology (01.07.2022)
Published in Journal of neurology (01.07.2022)
Get full text
Journal Article
Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations
Riva, Antonella, Orsini, Alessandro, Scala, Marcello, Taramasso, Vittoria, Canafoglia, Laura, d'Orsi, Giuseppe, Di Claudio, Maria Teresa, Avolio, Carlo, D'Aniello, Alfredo, Elia, Maurizio, Franceschetti, Silvana, Di Gennaro, Giancarlo, Bisulli, Francesca, Tinuper, Paolo, Tappatà, Maria, Romeo, Antonino, Freri, Elena, Marini, Carla, Costa, Cinzia, Sofia, Vito, Ferlazzo, Edoardo, Magaudda, Adriana, Veggiotti, Pierangelo, Gennaro, Elena, Pistorio, Angela, Minetti, Carlo, Bianchi, Amedeo, Striano, Salvatore, Michelucci, Roberto, Zara, Federico, Minassian, Berge Arakel, Striano, Pasquale
Published in Journal of the neurological sciences (15.05.2021)
Published in Journal of the neurological sciences (15.05.2021)
Get full text
Journal Article
251st ENMC international workshop: Polyglucosan storage myopathies 13–15 December 2019, Hoofddorp, the Netherlands
Laforêt, Pascal, Oldfors, Anders, Malfatti, Edoardo, Vissing, John, Colle, Marie-Anne, Duran, Jordi, Gentry, Matthew, Guinovart, Joan, Hurley, Thomas, Kakhlon, Or, Krag, Thomas, Landy, Hal, Laforêt, Pascal, Lilleør, Camilla B., Malfatti, Edoardo, Minassian, Berge, Mingozzi, Federico, Murphy, Elaine, Oldfors, Anders, Piercy, Richard, Piraud, Monique, Ramanan, Vyas, Stemmerik, Mads, Thomsen, Christer, Vissing, John, Weil, Miguel
Published in Neuromuscular disorders : NMD (01.05.2021)
Published in Neuromuscular disorders : NMD (01.05.2021)
Get full text
Journal Article
Conference Proceeding