Výsledky vyhledávání - Del Giudice, Ennio

A preterm neonate with seizures unresponsive to conventional treatment Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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 Autor 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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