“EEG abnormalities” may represent a confounding factor in celiac disease: A 4-year follow-up family report

por Parisi, Pasquale, Principessa, Luigi, Ferretti, Alessandro, D'Onofrio, Danila, Del Giudice, Ennio, Pacchiarotti, Claudia, Villa, Maria Pia
Publicado 2014

Improvement of dysphagia in a child affected by Pompe disease treated with enzyme replacement therapy

por Fecarotta, Simona, Ascione, Serena, Montefusco, Giuseppe, Della Casa, Roberto, Villari, Paola, Romano, Alfonso, Del Giudice, Ennio, Andria, Generoso, Parenti, Giancarlo
Publicado 2013

Expansion of the phenotype of lateral meningocele syndrome

por Cappuccio, Gerarda, Apuzzo, Diletta, Alagia, Marianna, Torella, Annalaura, Pinelli, Michele, Franco, Brunella, Corrado, Bruno, del Giudice, Ennio, D'Amico, Alessandra, Nigro, Vincenzo, Brunetti‐Pierri, Nicola
Publicado 2020

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

por Del Giudice, Ennio, Macca, Marina, Imperati, Floriana, D’Amico, Alessandra, Parent, Philippe, Pasquier, Laurent, Layet, Valerie, Lyonnet, Stanislas, Stamboul-Darmency, Veronique, Thauvin-Robinet, Christel, Franco, Brunella
Publicado 2014

A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability

por Pinelli, Michele, Terrone, Gaetano, Troglio, Flavia, Squeo, Gabriella Maria, Cappuccio, Gerarda, Imperati, Floriana, Pignataro, Piero, Genesio, Rita, Nitch, Lucio, Del Giudice, Ennio, Merla, Giuseppe, Testa, Giuseppe, Brunetti‐Pierri, Nicola
Publicado 2020

Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C

por Fecarotta, Simona, Romano, Alfonso, Della Casa, Roberto, Del Giudice, Ennio, Bruschini, Diana, Mansi, Giuseppina, Bembi, Bruno, Dardis, Andrea, Fiumara, Agata, Di Rocco, Maja, Uziel, Graziella, Ardissone, Anna, Roccatello, Dario, Alpa, Mirella, Bertini, Enrico, D’Amico, Adele, Dionisi-Vici, Carlo, Deodato, Federica, Caviglia, Stefania, Federico, Antonio, Palmeri, Silvia, Gabrielli, Orazio, Santoro, Lucia, Filla, Alessandro, Russo, Cinzia, Parenti, Giancarlo, Andria, Generoso
Publicado 2015

Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome

por Mills, Philippa B., Camuzeaux, Stephane S.M., Footitt, Emma J., Mills, Kevin A., Gissen, Paul, Fisher, Laura, Das, Krishna B., Varadkar, Sophia M., Zuberi, Sameer, McWilliam, Robert, Stödberg, Tommy, Plecko, Barbara, Baumgartner, Matthias R., Maier, Oliver, Calvert, Sophie, Riney, Kate, Wolf, Nicole I., Livingston, John H., Bala, Pronab, Morel, Chantal F., Feillet, François, Raimondi, Francesco, Del Giudice, Ennio, Chong, W. Kling, Pitt, Matthew, Clayton, Peter T.
Publicado 2014