Epileptic Encephalopathies with Status Epilepticus during Sleep: New Techniques for Understanding Pathophysiology and Therapeutic Options

by Brazzo, Daniela, Pera, Maria Carmela, Fasce, Marco, Papalia, Grazia, Balottin, Umberto, Veggiotti, Pierangelo
Published 2012

Intravenous methylprednisolone pulse therapy for children with epileptic encephalopathy

by Pera, Maria Carmela, Randazzo, Giovanna, Masnada, Silvia, Dontin, Serena Donetti, De Giorgis, Valentina, Balottin, Umberto, Veggiotti, Pierangelo
Published in Funct Neurol (2015)

The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage

by Ambrosini, Anna, Calabrese, Daniela, Avato, Francesco Maria, Catania, Felice, Cavaletti, Guido, Pera, Maria Carmela, Toscano, Antonio, Vita, Giuseppe, Monaco, Lucia, Pareyson, Davide
Published in Orphanet J Rare Dis (2018)

Longitudinal natural history of type I spinal muscular atrophy: a critical review

by Mercuri, Eugenio, Lucibello, Simona, Perulli, Marco, Coratti, Giorgia, de Sanctis, Roberto, Pera, Maria Carmela, Pane, Marika, Montes, Jacqueline, de Vivo, Darryl C., Darras, Basil T., Kolb, Stephen J., Finkel, Richard S.
Published in Orphanet J Rare Dis (2020)

Long-term progression in type II spinal muscular atrophy: A retrospective observational study

by Mercuri, Eugenio, Lucibello, Simona, Pera, Maria Carmela, Carnicella, Sara, Coratti, Giorgia, de Sanctis, Roberto, Messina, Sonia, Mazzone, Elena, Forcina, Nicola, Fanelli, Lavinia, Norcia, Giulia, Antonaci, Laura, Frongia, Anna Lia, Pane, Marika
Published in Neurology (2019)

Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey?

by Pera, Maria Carmela, Coratti, Giorgia, Berti, Beatrice, D’Amico, Adele, Sframeli, Maria, Albamonte, Emilio, de Sanctis, Roberto, Messina, Sonia, Catteruccia, Michela, Brigati, Giorgia, Antonaci, Laura, Lucibello, Simona, Bruno, Claudio, Sansone, Valeria A., Bertini, Enrico, Tiziano, Danilo, Pane, Marika, Mercuri, Eugenio
Published in PLoS One (2020)

Revised North Star Ambulatory Assessment for Young Boys with Duchenne Muscular Dystrophy

by Mercuri, Eugenio, Coratti, Giorgia, Messina, Sonia, Ricotti, Valeria, Baranello, Giovanni, D’Amico, Adele, Pera, Maria Carmela, Albamonte, Emilio, Sivo, Serena, Mazzone, Elena Stacy, Arnoldi, Maria Teresa, Fanelli, Lavinia, De Sanctis, Roberto, Romeo, Domenico M, Vita, Gian Luca, Battini, Roberta, Bertini, Enrico, Muntoni, Francesco, Pane, Marika
Published in PLoS One (2016)

Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool

by Ramsey, Danielle, Scoto, Mariacristina, Mayhew, Anna, Main, Marion, Mazzone, Elena S., Montes, Jacqueline, de Sanctis, Roberto, Dunaway Young, Sally, Salazar, Rachel, Glanzman, Allan M., Pasternak, Amy, Quigley, Janet, Mirek, Elizabeth, Duong, Tina, Gee, Richard, Civitello, Matthew, Tennekoon, Gihan, Pane, Marika, Pera, Maria Carmela, Bushby, Kate, Day, John, Darras, Basil T., De Vivo, Darryl, Finkel, Richard, Mercuri, Eugenio, Muntoni, Francesco
Published in PLoS One (2017)

Type I SMA “new natural history”: long‐term data in nusinersen‐treated patients

by Pane, Marika, Coratti, Giorgia, Sansone, Valeria A., Messina, Sonia, Catteruccia, Michela, Bruno, Claudio, Sframeli, Maria, Albamonte, Emilio, Pedemonte, Marina, D’Amico, Adele, Bravetti, Chiara, Berti, Beatrice, Palermo, Concetta, Leone, Daniela, Brigati, Giorgia, Tacchetti, Paola, Salmin, Francesca, De Sanctis, Roberto, Lucibello, Simona, Pera, Maria Carmela, Piastra, Marco, Genovese, Orazio, Bertini, Enrico, Vita, Gianluca, Tiziano, Francesco Danilo, Mercuri, Eugenio
Published in Ann Clin Transl Neurol (2021)

Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials

by Mercuri, Eugenio, Finkel, Richard, Montes, Jacqueline, Mazzone, Elena S., Sormani, Maria Pia, Main, Marion, Ramsey, Danielle, Mayhew, Anna, Glanzman, Allan M., Dunaway, Sally, Salazar, Rachel, Pasternak, Amy, Quigley, Janet, Pane, Marika, Pera, Maria Carmela, Scoto, Mariacristina, Messina, Sonia, Sframeli, Maria, Vita, Gian Luca, D'Amico, Adele, van den Hauwe, Marleen, Sivo, Serena, Goemans, Nathalie, Kaufmann, Petra, Darras, Basil T., Bertini, Enrico, Muntoni, Francesco, De Vivo, Darryl C.
Published in Neuromuscul Disord (2016)

Ambulatory function in spinal muscular atrophy: Age-related patterns of progression

by Montes, Jacqueline, McDermott, Michael P., Mirek, Elizabeth, Mazzone, Elena S., Main, Marion, Glanzman, Allan M., Duong, Tina, Young, Sally Dunaway, Salazar, Rachel, Pasternak, Amy, Gee, Richard, De Sanctis, Roberto, Coratti, Giorgia, Forcina, Nicola, Fanelli, Lavinia, Ramsey, Danielle, Milev, Evelin, Civitello, Matthew, Pane, Marika, Pera, Maria Carmela, Scoto, Mariacristina, Day, John W., Tennekoon, Gihan, Finkel, Richard S., Darras, Basil T., Muntoni, Francesco, De Vivo, Darryl C., Mercuri, Eugenio
Published in PLoS One (2018)