Kết quả tìm kiếm - Del Giudice, Ennio

A preterm neonate with seizures unresponsive to conventional treatment Bằng Raimondi, Francesco, Mills, Philippa, Clayton, Peter T, Del Giudice, Ennio

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Low-Dose Amitriptyline-Induced Acute Dystonia in a Patient with Metachromatic Leukodystrophy Bằng Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Terrone, Gaetano, Romano, Alfonso, Andria, Generoso, Del Giudice, Ennio

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“EEG abnormalities” may represent a confounding factor in celiac disease: A 4-year follow-up family report Bằng Parisi, Pasquale, Principessa, Luigi, Ferretti, Alessandro, D'Onofrio, Danila, Del Giudice, Ennio, Pacchiarotti, Claudia, Villa, Maria Pia

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Improvement of dysphagia in a child affected by Pompe disease treated with enzyme replacement therapy Bằng Fecarotta, Simona, Ascione, Serena, Montefusco, Giuseppe, Della Casa, Roberto, Villari, Paola, Romano, Alfonso, Del Giudice, Ennio, Andria, Generoso, Parenti, Giancarlo

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Expansion of the phenotype of lateral meningocele syndrome Bằng 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

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

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De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia Bằng Terrone, Gaetano, Voisin, Norine, Abdullah Alfaiz, Ali, Cappuccio, Gerarda, Vitiello, Giuseppina, Guex, Nicolas, D'Amico, Alessandra, James Barkovich, A, Brunetti-Pierri, Nicola, Del Giudice, Ennio, Reymond, Alexandre

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

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Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder Bằng Cappuccio, Gerarda, Attanasio, Sergio, Alagia, Marianna, Mutarelli, Margherita, Borzone, Roberta, Karali, Marianthi, Genesio, Rita, Mormile, Angela, Nitsch, Lucio, Imperati, Floriana, Esposito, Annalisa, Banfi, Sandro, Del Giudice, Ennio, Brunetti-Pierri, Nicola

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Targeting oxidative stress improves disease outcomes in a rat model of acquired epilepsy Bằng Pauletti, Alberto, Terrone, Gaetano, Shekh-Ahmad, Tawfeeq, Salamone, Alessia, Ravizza, Teresa, Rizzi, Massimo, Pastore, Anna, Pascente, Rosaria, Liang, Li-Ping, Villa, Bianca R, Balosso, Silvia, Abramov, Andrey Y, van Vliet, Erwin A, Del Giudice, Ennio, Aronica, Eleonora, Patel, Manisha, Walker, Matthew C, Vezzani, Annamaria

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Targeting oxidative stress improves disease outcomes in a rat model of acquired epilepsy Bằng Pauletti, Alberto, Terrone, Gaetano, Shekh-Ahmad, Tawfeeq, Salamone, Alessia, Ravizza, Teresa, Rizzi, Massimo, Pastore, Anna, Pascente, Rosaria, Liang, Li-Ping, Villa, Bianca R., Balosso, Silvia, Abramov, Andrey Y., van Vliet, Erwin A., Del Giudice, Ennio, Aronica, Eleonora, Antoine, Daniel J., Patel, Manisha, Walker, Matthew C., Vezzani, Annamaria

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

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

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Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy Bằng Voisin, Norine, Schnur, Rhonda E., Douzgou, Sofia, Hiatt, Susan M., Rustad, Cecilie F., Brown, Natasha J., Earl, Dawn L., Keren, Boris, Levchenko, Olga, Geuer, Sinje, Verheyen, Sarah, Johnson, Diana, Zarate, Yuri A., Hančárová, Miroslava, Amor, David J., Bebin, E. Martina, Blatterer, Jasmin, Brusco, Alfredo, Cappuccio, Gerarda, Charrow, Joel, Chatron, Nicolas, Cooper, Gregory M., Courtin, Thomas, Dadali, Elena, Delafontaine, Julien, Del Giudice, Ennio, Doco, Martine, Douglas, Ganka, Eisenkölbl, Astrid, Funari, Tara, Giannuzzi, Giuliana, Gruber-Sedlmayr, Ursula, Guex, Nicolas, Heron, Delphine, Holla, Øystein L., Hurst, Anna C.E., Juusola, Jane, Kronn, David, Lavrov, Alexander, Lee, Crystle, Lorrain, Séverine, Merckoll, Else, Mikhaleva, Anna, Norman, Jennifer, Pradervand, Sylvain, Prchalová, Darina, Rhodes, Lindsay, Sanders, Victoria R., Sedláček, Zdeněk, Seebacher, Heidelis A., Sellars, Elizabeth A., Sirchia, Fabio, Takenouchi, Toshiki, Tanaka, Akemi J., Taska-Tench, Heidi, Tønne, Elin, Tveten, Kristian, Vitiello, Giuseppina, Vlčková, Markéta, Uehara, Tomoko, Nava, Caroline, Yalcin, Binnaz, Kosaki, Kenjiro, Donnai, Dian, Mundlos, Stefan, Brunetti-Pierri, Nicola, Chung, Wendy K., Reymond, Alexandre

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