Quality of Life in Chronic Ketogenic Diet Treatment: The GLUT1DS Population Perspective

por Varesio, Costanza, Pasca, Ludovica, Parravicini, Stefano, Zanaboni, Martina Paola, Ballante, Elena, Masnada, Silvia, Ferraris, Cinzia, Bertoli, Simona, Tagliabue, Anna, Veggiotti, Pierangelo, De Giorgis, Valentina
Publicado 2019

Overall cognitive profiles in patients with GLUT1 Deficiency Syndrome

por De Giorgis, Valentina, Masnada, Silvia, Varesio, Costanza, Chiappedi, Matteo A., Zanaboni, Martina, Pasca, Ludovica, Filippini, Melissa, Macasaet, Joyce A., Valente, Marialuisa, Ferraris, Cinzia, Tagliabue, Anna, Veggiotti, Pierangelo
Publicado 2019

SARS-CoV-2 genome quantification in wastewaters at regional and city scale allows precise monitoring of the whole outbreaks dynamics and variants spreading in the population

por Wurtzer, S., Waldman, P., Levert, M., Cluzel, N., Almayrac, J.L., Charpentier, C., Masnada, S., Gillon-Ritz, M., Mouchel, J.M., Maday, Y., Boni, M., Marechal, V., Moulin, L.
Publicado 2022

Case Report: Novel Compound Heterozygous RNASEH2B Mutations Cause Aicardi–Goutières Syndrome

por Garau, Jessica, Masnada, Silvia, Dragoni, Francesca, Sproviero, Daisy, Fogolari, Federico, Gagliardi, Stella, Izzo, Giana, Varesio, Costanza, Orcesi, Simona, Veggiotti, Pierangelo, Zuccotti, Gian Vincenzo, Pansarasa, Orietta, Tonduti, Davide, Cereda, Cristina
Publicado 2021

FDXR-associated disease: a challenging differential diagnosis with inflammatory peripheral neuropathy

por Masnada, Silvia, Previtali, Roberto, Erba, Paola, Beretta, Elena, Camporesi, Anna, Chiapparini, Luisa, Doneda, Chiara, Iascone, Maria, Sartorio, Marco U. A., Spaccini, Luigina, Veggiotti, Pierangelo, Osio, Maurizio, Tonduti, Davide, Moroni, Isabella
Publicado 2023

From Alpha to Omicron BA.2: New digital RT-PCR approach and challenges for SARS-CoV-2 VOC monitoring and normalization of variant dynamics in wastewater

por Wurtzer, Sebastien, Levert, Morgane, Dhenain, Eloïse, Accrombessi, Heberte, Manco, Sandra, Fagour, Nathalie, Goulet, Marion, Boudaud, Nicolas, Gaillard, Lucie, Bertrand, Isabelle, Challant, Julie, Masnada, Sophie, Azimi, Sam, Gillon-Ritz, Miguel, Robin, Alban, Mouchel, Jean-Marie, Sig, Obepine, Moulin, Laurent
Publicado 2022

Intravesical Ty21a Treatment of Non–muscle-invasive Bladder Cancer Shows a Good Safety Profile

por Lucca, Ilaria, Derré, Laurent, Cesson, Valérie, Bohner, Perrine, Crettenand, François, Rodrigues-Dias, Sonia, Dartiguenave, Florence, Masnada, Audrey, Texeira-Pereira, Carla, Benmerzoug, Sulayman, Chevalier, Mathieu, Domingos-Pereira, Sonia, Nguyen, Sylvain, Polak, Lenka, Schneider, Anna, Roth, Beat, Jichlinski, Patrice, Nardelli-Haefliger, Denise
Publicado 2022

Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring

por Bonaventura, Eleonora, Alberti, Luisella, Lucchi, Simona, Cappelletti, Laura, Fazzone, Salvatore, Cattaneo, Elisa, Bellini, Matteo, Izzo, Giana, Parazzini, Cecilia, Bosetti, Alessandra, Di Profio, Elisabetta, Fiore, Giulia, Ferrario, Matilde, Mameli, Chiara, Sangiorgio, Arianna, Masnada, Silvia, Zuccotti, Gian Vincenzo, Veggiotti, Pierangelo, Spaccini, Luigina, Iascone, Maria, Verduci, Elvira, Cereda, Cristina, Tonduti, Davide
Publicado 2023

Results From an Italian Expanded Access Program on Cannabidiol Treatment in Highly Refractory Dravet Syndrome and Lennox–Gastaut Syndrome

por Iannone, Luigi Francesco, Arena, Gabriele, Battaglia, Domenica, Bisulli, Francesca, Bonanni, Paolo, Boni, Antonella, Canevini, Maria Paola, Cantalupo, Gaetano, Cesaroni, Elisabetta, Contin, Manuela, Coppola, Antonietta, Cordelli, Duccio Maria, Cricchiuti, Giovanni, De Giorgis, Valentina, De Leva, Maria Fulvia, De Rinaldis, Marta, d'Orsi, Giuseppe, Elia, Maurizio, Galimberti, Carlo Andrea, Morano, Alessandra, Granata, Tiziana, Guerrini, Renzo, Lodi, Monica A. M., La Neve, Angela, Marchese, Francesca, Masnada, Silvia, Michelucci, Roberto, Nosadini, Margherita, Pilolli, Nicola, Pruna, Dario, Ragona, Francesca, Rosati, Anna, Santucci, Margherita, Spalice, Alberto, Pietrafusa, Nicola, Striano, Pasquale, Tartara, Elena, Tassi, Laura, Papa, Amanda, Zucca, Claudio, Russo, Emilio, Mecarelli, Oriano
Publicado 2021