Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment
Salpietro, Vincenzo, Malintan, Nancy T., Llano-Rivas, Isabel, Spaeth, Christine G., Efthymiou, Stephanie, Striano, Pasquale, Vandrovcova, Jana, Cutrupi, Maria C., Chimenz, Roberto, David, Emanuele, Di Rosa, Gabriella, Marce-Grau, Anna, Raspall-Chaure, Miquel, Martin-Hernandez, Elena, Zara, Federico, Minetti, Carlo, Salpietro, Vincenzo, Efthymiou, Stephanie, Kriouile, Yamna, El Khorassani, Mohamed, Aguennouz, Mhammed, Karashova, Blagovesta, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Van Maldergem, Lionel, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez-Dueñas, Belen, Di Rosa, Gabriella, Pironti, Erica, Goraya, Jatinder S., Sultan, Tipu, Kirmani, Salman, Ibrahim, Shahnaz, Jan, Farida, Mine, Jun, Banu, Selina, Veggiotti, Pierangelo, Ferrari, Michel D., Verrotti, Alberto, Marseglia, Gian Luigi, Savasta, Salvatore, Garavaglia, Barbara, Scuderi, Carmela, Borgione, Eugenia, Dipasquale, Valeria, Cutrupi, Maria Concetta, Portaro, Simona, Sanchez, Benigno Monteagudo, Pineda-Marfa’, Mercedes, Munell, Francina, Macaya, Alfons, Boles, Richard, Heimer, Gali, Papacostas, Savvas, Manole, Andreea, Malintan, Nancy, Zanetti, Maria Natalia, Hanna, Michael G., Rothman, James E., Kullmann, Dimitri M., Houlden, Henry, Bello, Oscar D., De Zorzi, Rita, Fortuna, Sara, Dauber, Andrew, Alkhawaja, Mariam, Sultan, Tipu, Mankad, Kshitij, Vitobello, Antonio, Thomas, Quentin, Mau-Them, Frederic Tran, Faivre, Laurence, Martinez-Azorin, Francisco, Prada, Carlos E., Macaya, Alfons, Kullmann, Dimitri M., Rothman, James E., Krishnakumar, Shyam S., Houlden, Henry
Published in American journal of human genetics (04.04.2019)
Published in American journal of human genetics (04.04.2019)
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Virtual Reality Technology to Enhance Conventional Rehabilitation Program: Results of a Single-Blind, Randomized, Controlled Pilot Study in Patients with Global Developmental Delay
Settimo, Carmela, De Cola, Maria Cristina, Pironti, Erica, Muratore, Rosalia, Giambò, Fabio Mauro, Alito, Angelo, Tresoldi, Maria, La Fauci, Margherita, De Domenico, Carmela, Tripodi, Emanuela, Impallomeni, Caterina, Quartarone, Angelo, Cucinotta, Francesca
Published in Journal of clinical medicine (28.07.2023)
Published in Journal of clinical medicine (28.07.2023)
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Aripiprazole-induced Tardive Dyskinesia in 13 Years Old Girl Successfully Treated with Biperiden: A Case Report
Lamberti, Marco, Di Rosa, Gabriella, Cucinotta, Francesca, Pironti, Erica, Galati, Cecilia, Gagliano, Antonella
Published in Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology (01.08.2017)
Published in Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology (01.08.2017)
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8q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review and a Case Report
Di Rosa, Gabriella, Maggio, Roberta, Galati, Cecilia, Cucinotta, Francesca, Pironti, Erica, Gagliano, Antonella, Alquino, Maria Ausilia
Published in Case reports in medicine (01.01.2018)
Published in Case reports in medicine (01.01.2018)
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Brainstem arteriovenous malformation presenting with dyspraxic handwriting in a young girl
Coppola, Giangennaro, D’Amico, Alessandra, Pironti, Erica, Martino, Federica, Santoro, Elena, Di Paolo, Nilde, Isone, Claudia, Catone, Gennaro
Published in Brain & development (Tokyo. 1979) (01.06.2014)
Published in Brain & development (Tokyo. 1979) (01.06.2014)
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Aripiprazole-induced Tardive Dyskinesia in 13 Years Old Girl Successfully Treated with Biperiden: A Case Report
Marco Lamberti, Gabriella Di Rosa, Francesca Cucinotta, Erica Pironti, Cecilia Galati, Antonella Gagliano
Published in Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology (30.08.2017)
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Published in Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology (30.08.2017)
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The impact of the ketogenic diet on arterial morphology and endothelial function in children and young adults with epilepsy: A case–control study
Coppola, Giangennaro, Natale, Francesco, Torino, Annarita, Capasso, Rosanna, D’Aniello, Alfredo, Pironti, Erica, Santoro, Elena, Calabrò, Raffaele, Verrotti, Alberto
Published in Seizure (London, England) (01.04.2014)
Published in Seizure (London, England) (01.04.2014)
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Electroclinical history of a five‐year‐old girl with GRIN1‐related early‐onset epileptic encephalopathy: a video‐case study
Pironti, Erica, Granata, Francesca, Cucinotta, Francesca, Gagliano, Antonella, Efthymiou, Stephanie, Houlden, Henry, Salpietro, Vincenzo, Di Rosa, Gabriella
Published in Epileptic disorders (01.10.2018)
Published in Epileptic disorders (01.10.2018)
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De novo mutation in SLC25A22 gene: expansion of the clinical and electroencephalographic phenotype
Nicotera, Antonio Gennaro, Dicanio, Daniela, Pironti, Erica, Bonsignore, Maria, Cafeo, Anna, Efthymiou, Stephanie, Mondello, Patrizia, Salpietro, Vincenzo, Houlden, Henry, Di Rosa, Gabriella
Published in Journal of neurogenetics (03.04.2021)
Published in Journal of neurogenetics (03.04.2021)
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A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease
Calì, Elisa, Lin, Sheng-Jia, El Chehadeh, Salima, Chaabouni, Myriam, Mankad, Kshitij, Galanaki, Evangelia, Sudhakar, Sniya, Athanasiou-Fragkouli, Alkyoni, Çelik, Tamer, Narlı, Nejat, Bianca, Sebastiano, El Khorassani, Mohamed, Groppa, Stanislav, Karashova, Blagovesta Marinova, Di Rosa, Gabriella, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Veggiotti, Pierangelo, Savasta, Salvatore, Ruiz, Alfons Macaya, Garavaglia, Barbara, Borgione, Eugenia, Papacostas, Savvas, Compagnoni, Chiara, Piccirilli, Alessandra, Vikelis, Michail, Chelban, Viorica, Cortese, Andrea, Sullivan, Roisin, Papanicolaou, Eleni Zamba, Dardiotis, Efthymios, Ibrahim, Shahnaz, Kirmani, Salman, Atawneh, Osama, Lim, Shen-Yang, Shaikh, Farooq, Scardamaglia, Annarita, Mangano, Salvatore, Scuderi, Carmela, Morello, Giovanna, Zollo, Massimo, Heimer, Gali, Alkuraya, Fowzan S., Guliyeva, Ulviyya, Salayev, Kamran, Fiorillo, Chiara, Rissotto, Federico, Gagliano, Antonella, Chimenz, Roberto, Gitto, Eloisa, Cuppari, Caterina, Magrinelli, Francesca, Zagaroli, Luca, Caloisi, Claudia, Fabiano, Cecilia, Bottone, Gabriella, Di Fabio, Sandra, Obeid, Makram, Bakhtadze, Sophia, Saadi, Nebal W., Zaki, Maha S., Kara, Majdi, Specchio, Nicola, Karimiani, Ehsan G., Salih, Ahmed M., David, Emanuele, Curró, Riccardo, Iezzi, Maria Laura, Iapadre, Giulia, Brancati, Francesco, Di Falco, Giovanna, Operto, Francesca F., Valenzise, Mariella, Della Rocca, Ylenia, Alesse, Edoardo, Pironti, Erica, Amore, Greta, Ceravolo, Giorgia, Zafar, Faisal, Ullah, Ehsan, Afzal, Erum, Rahman, Fatima, Parisi, Pasquale, Genomics, Queen Square, Andrea Accogli, Petree, Cassidy, Huang, Kevin, Monastiri, Kamel, Nardello, Rosaria, Ognibene, Marzia, Ruggieri, Martino, Zara, Federico, Abi Warde, Marie Therese, Gerard, Benedicte, Beetz, Christian, Fortuna, Sara, Soler, Miguel, Varshney, Gaurav, Salpietro, Vincenzo
Published in Genetics in medicine (01.10.2022)
Published in Genetics in medicine (01.10.2022)
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A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography - case study
Pironti, Erica, Salpietro, Vincenzo, Cucinotta, Francesca, Granata, Francesca, Mormina, Enricomaria, Efthymiou, Stephanie, Scuderi, Carmela, Gagliano, Antonella, Houlden, Henry, Di Rosa, Gabriella
Published in Journal of neurogenetics (02.10.2018)
Published in Journal of neurogenetics (02.10.2018)
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Gender influence in early milestones-related psychomotor profiles and long-term neurodevelopmental pitfalls in preterm infants
Cucinotta, Francesca, Pironti, Erica, Alibrandi, Angela, Gagliano, Antonella, Di Rosa, Gabriella
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
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Journal Article
Preliminary Results of Whole Exome Sequencing in a Cohort of Sicilian Children with Early-Onset Epileptic Encephalopaty
Pironti, Erica, Cucinotta, Francesca, Granata, Francesca, Spanò, Maria, Bonsignore, Maria, Houlden, Henry, Salpietro, Vincenzo D, Gagliano, Antonella, Di Rosa, Gabriella
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
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Lack of pathogenic mutations in six patients with MMPSI
De Filippo, Maria Rosaria, Rizzo, Francesca, Marchese, Giovanna, Giurato, Giorgio, Nassa, Giovanni, Ravo, Maria, Tarallo, Roberta, Pironti, Erica, Vecchi, Marilena, Crichiutti, Giovanni, Capizzi, Giorgio, Verrotti, Alberto, Weisz, Alessandro, Coppola, Giangennaro
Published in Epilepsy research (01.02.2014)
Published in Epilepsy research (01.02.2014)
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8q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review cod c Case Report
Gagliano, Antonella, Pironti, Erica, Cucinotta, Francesca, Galati, Cecilia, Maggio, Roberta, Alquino, Maria Ausilia, Di Rosa, Gabriella
Published in Case reports in medicine (01.01.2018)
Published in Case reports in medicine (01.01.2018)
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Journal Article
De novo mutation in SLC25A22 gene: expansion of the clinical and electroencephalographic phenotype
Nicotera, Antonio Gennaro, Dicanio, Daniela, Pironti, Erica, Bonsignore, Maria, Cafeo, Anna, Efthymiou, Stephanie, Mondello, Patrizia, Salpietro, Vincenzo, Houlden, Henry, Di Rosa, Gabriella
Published in Journal of Neurogenetics (03.04.2021)
Published in Journal of Neurogenetics (03.04.2021)
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8q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review and a Case Report
Gagliano, Antonella, Pironti, Erica, Cucinotta, Francesca, Galati, Cecilia, Maggio, Roberta, Alquino, Maria Ausilia, Di Rosa, Gabriella
Published in Case reports in medicine (01.01.2018)
Published in Case reports in medicine (01.01.2018)
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Aripiprazole-induced Tardive Dyskinesia in 13 Years Old Girl Successfully Treated with Biperiden: A Case Report
Lamberti, Marco, Di Rosa, Gabriella, Cucinotta, Francesca, Pironti, Erica, Galati, Cecilia, Gagliano, Antonella
Published in Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology (31.08.2017)
Published in Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology (31.08.2017)
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