Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations von Tripathy, Ratna, Leca, Ines, van Dijk, Tessa, Weiss, Janneke, van Bon, Bregje W., Sergaki, Maria Christina, Gstrein, Thomas, Breuss, Martin, Tian, Guoling, Bahi-Buisson, Nadia, Paciorkowski, Alexander R., Pagnamenta, Alistair T., Wenninger-Weinzierl, Andrea, Martinez-Reza, Maria Fernanda, Landler, Lukas, Lise, Stefano, Taylor, Jenny C., Terrone, Gaetano, Vitiello, Giuseppina, Del Giudice, Ennio, Brunetti-Pierri, Nicola, D’Amico, Alessandra, Reymond, Alexandre, Voisin, Norine, Bernstein, Jonathan A., Farrelly, Ellyn, Kini, Usha, Leonard, Thomas A., Valence, Stéphanie, Burglen, Lydie, Armstrong, Linlea, Hiatt, Susan M., Cooper, Gregory M., Aldinger, Kimberly A., Dobyns, William B., Mirzaa, Ghayda, Pierson, Tyler Mark, Baas, Frank, Chelly, Jamel, Cowan, Nicholas J., Keays, David Anthony

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Targeting oxidative stress improves disease outcomes in a rat model of acquired epilepsy von 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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Impact of malnutrition on gastrointestinal disorders and gross motor abilities in children with cerebral palsy von Campanozzi, Angelo, Capano, Guglielmo, Miele, Erasmo, Romano, Alfonso, Scuccimarra, Goffredo, Giudice, Ennio Del, Strisciuglio, Caterina, Militerni, Roberto, Staiano, Annamaria

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Mechanisms of gastroesophageal reflux in children with sequelae of birth asphyxia von Pensabene, Licia, Miele, Erasmo, Giudice, Ennio Del, Strisciuglio, Caterina, Staiano, Annamaria

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Low‐grade tumour over the left temporal neocortex and ictal asystole: network and surgical implications von Russo, Angelo, Francione, Stefano, Martinoni, Matteo, Zucchelli, Mino, Guerra, Angelo, Terrone, Gaetano, Del Giudice, Ennio, Gobbi, Giuseppe

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A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability von 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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Expansion of the phenotype of lateral meningocele syndrome von Cappuccio, Gerarda, Apuzzo, Diletta, Alagia, Marianna, Torella, Annalaura, Pinelli, Michele, Franco, Brunella, Corrado, Bruno, Giudice, Ennio, D'Amico, Alessandra, Nigro, Vincenzo, 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 von 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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Paroxysmal Dystonic Posturing Mimicking Nocturnal Leg Cramps as a Presenting Sign in an Infant with DCC Mutation, Callosal Agenesis and Mirror Movements von Prato, Adriana, Cirnigliaro, Lara, Maugeri, Federica, Luca, Antonina, Giuliano, Loretta, Vitiello, Giuseppina, Errichiello, Edoardo, Valente, Enza Maria, Del Giudice, Ennio, Mostile, Giovanni, Rizzo, Renata, Barone, Rita

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Clinical guidelines in pediatric headache: evaluation of quality using the AGREE II instrument von Parisi, Pasquale, Vanacore, Nicola, Belcastro, Vincenzo, Carotenuto, Marco, Giudice, Ennio Del, Mariani, Rosanna, Papetti, Laura, Pavone, Piero, Savasta, Salvatore, Striano, Pasquale, Toldo, Irene, Tozzi, Elisabetta, Verrotti, Alberto, Raucci, Umberto

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A Better Understanding of Brain Involvement in 22q11.2 Deletion Syndrome von Del Giudice, Ennio

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Steroid treatment in Ataxia-Telangiectasia induces alterations of functional magnetic resonance imaging during prono-supination task von Quarantelli, Mario, Giardino, Giuliana, Prinster, Anna, Aloj, Giuseppina, Carotenuto, Barbara, Cirillo, Emilia, Marsili, Angela, Salvatore, Elena, Del Giudice, Ennio, Pignata, Claudio

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Muscular dystrophy revealed by incidentally discovered elevated aminotransferase levels von Vajro, Pietro, MD, Del Giudice, Ennio, MD, Veropalumbo, Claudio, MD

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Cerebellar vermis aplasia: Patient report and exclusion of the candidate genes EN2 and ZIC1 von Titomanlio, Luigi, Pierri, Nicola Brunetti, Romano, Alfonso, Imperati, Floriana, Borrelli, Melissa, Barletta, Valentina, Diano, Alvaro Antonio, Castaldo, Imma, Santoro, Lucio, Del Giudice, Ennio

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Hormonal and neuropsychological evaluation of two 47,XYY patients with pituitary abnormalities von Lettiero, Teresa, Giudice, Ennio Del, Imperati, Floriana, Ciao, Alessandro, Capalbo, Donatella, Salerno, Mariacarolina

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Targeting oxidative stress improves disease outcomes in a rat model of acquired epilepsy von 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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Gastrointestinal manifestations in children with cerebral palsy von DEL GIUDICE, E, STAIANO, A, CAPANO, G, ROMANO, A, FLORIMONTE, L, MIELE, E, CIARLA, C, CAMPANOZZI, A, CRISANTI, A. F

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Intrafamilial variability in SPTAN1-related disorder: From benign convulsions with mild gastroenteritis to developmental encephalopathy von Terrone, Gaetano, Pinelli, Michele, Bernardo, Pia, Parrini, Elena, Imperati, Floriana, Brunetti-Pierri, Nicola, Del Giudice, Ennio

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Reply to letter: “Brain MRI abnormalities resembling unidentified bright objects in a patient with Phelan- McDermid syndrome” von Terrone, Gaetano, Vitiello, Giuseppina, Del Giudice, Ennio

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Factor Analysis of the Italian Version of the Alabama Parenting Questionnaire in a Community Sample von Esposito, Annalisa, Servera, Mateu, Garcia-Banda, Gloria, Del Giudice, Ennio

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