Brain Organoids as Model Systems for Genetic Neurodevelopmental Disorders by Simona Baldassari, Ilaria Musante, Ilaria Musante, Michele Iacomino, Federico Zara, Federico Zara, Vincenzo Salpietro, Vincenzo Salpietro, Vincenzo Salpietro, Paolo Scudieri, Paolo Scudieri

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Case report: LAMC3-associated cortical malformations: Case report of a novel stop-gain variant and literature review by Giovanni Falcicchio, Antonella Riva, Antonella Riva, Angela La Neve, Michele Iacomino, Patrizia Lastella, Patrizia Suppressa, Vittorio Sciruicchio, Maria Trojano, Pasquale Striano, Pasquale Striano

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Refining the electroclinical spectrum of NPRL3‐related epilepsy: A novel multiplex family and literature review by Alice Dainelli, Michele Iacomino, Sara Rossato, Samuela Bugin, Monica Traverso, Mariasavina Severino, Stefano Gustincich, Valeria Capra, Marco Di Duca, Federico Zara, Marcello Scala, Pasquale Striano

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Enhancer chip: detecting human copy number variations in regulatory elements. by Marco Savarese, Giulio Piluso, Daniela Orteschi, Giuseppina Di Fruscio, Manuela Dionisi, Francesca del Vecchio Blanco, Annalaura Torella, Teresa Giugliano, Michele Iacomino, Marcella Zollino, Giovanni Neri, Vincenzo Nigro

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Vesicular Glutamate Release from Feeder-FreehiPSC-Derived Neurons by Simona Baldassari, Chiara Cervetto, Sarah Amato, Floriana Fruscione, Ganna Balagura, Simone Pelassa, Ilaria Musante, Michele Iacomino, Monica Traverso, Anna Corradi, Paolo Scudieri, Guido Maura, Manuela Marcoli, Federico Zara

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Neuroimaging features of WOREE syndrome: a mini-review of the literature by Laura Battaglia, Giovanna Scorrano, Rossana Spiaggia, Antonio Basile, Stefano Palmucci, Pietro Valerio Foti, Corrado Spatola, Michele Iacomino, Franco Marinangeli, Elisa Francia, Francesco Comisi, Antonio Corsello, Vincenzo Salpietro, Vincenzo Salpietro, Alessandro Vittori, Emanuele David

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New Trends and Most Promising Therapeutic Strategies for Epilepsy Treatment by Antonella Riva, Antonella Riva, Alice Golda, Ganna Balagura, Elisabetta Amadori, Elisabetta Amadori, Maria Stella Vari, Gianluca Piccolo, Michele Iacomino, Simona Lattanzi, Vincenzo Salpietro, Vincenzo Salpietro, Carlo Minetti, Carlo Minetti, Pasquale Striano, Pasquale Striano

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Biallelic Variants in <i>KIF17</i> Associated with Microphthalmia and Coloboma Spectrum by Antonella Riva, Antonella Gambadauro, Valeria Dipasquale, Celeste Casto, Maria Domenica Ceravolo, Andrea Accogli, Marcello Scala, Giorgia Ceravolo, Michele Iacomino, Federico Zara, Pasquale Striano, Caterina Cuppari, Gabriella Di Rosa, Maria Concetta Cutrupi, Vincenzo Salpietro, Roberto Chimenz

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Cortical and Subcortical Network Dysfunction in a Female Patient With NEXMIF Encephalopathy by Maria Cristina Cioclu, Antonietta Coppola, Manuela Tondelli, Anna Elisabetta Vaudano, Giada Giovannini, Giada Giovannini, Giada Giovannini, S. Krithika, S. Krithika, S. Krithika, Michele Iacomino, Federico Zara, Federico Zara, Sanjay M. Sisodiya, Sanjay M. Sisodiya, Stefano Meletti, Stefano Meletti

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Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in <i>KCNA1</i> Impairing the Voltage Sensitivity of Kv1.1 Channel by Paola Imbrici, Andrea Accogli, Rikard Blunck, Concetta Altamura, Michele Iacomino, Maria Cristina D’Adamo, Anna Allegri, Marina Pedemonte, Noemi Brolatti, Stella Vari, Matteo Cataldi, Valeria Capra, Stefano Gustincich, Federico Zara, Jean-Francois Desaphy, Chiara Fiorillo

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The L467F-F508del Complex Allele Hampers Pharmacological Rescue of Mutant CFTR by Elexacaftor/Tezacaftor/Ivacaftor in Cystic Fibrosis Patients: The Value of the Ex Vivo Nasal Epith... by Elvira Sondo, Federico Cresta, Cristina Pastorino, Valeria Tomati, Valeria Capurro, Emanuela Pesce, Mariateresa Lena, Michele Iacomino, Ave Maria Baffico, Domenico Coviello, Tiziano Bandiera, Federico Zara, Luis J. V. Galietta, Renata Bocciardi, Carlo Castellani, Nicoletta Pedemonte

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A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome by Antonella Riva, Antonella Riva, Giulia Nobile, Thea Giacomini, Thea Giacomini, Marzia Ognibene, Marcello Scala, Marcello Scala, Ganna Balagura, Francesca Madia, Andrea Accogli, Andrea Accogli, Ferruccio Romano, Domenico Tortora, Mariasavina Severino, Paolo Scudieri, Paolo Scudieri, Simona Baldassari, Ilaria Musante, Paolo Uva, Vincenzo Salpietro, Vincenzo Salpietro, Annalaura Torella, Annalaura Torella, Vincenzo Nigro, Vincenzo Nigro, Valeria Capra, Lino Nobili, Lino Nobili, Pasquale Striano, Pasquale Striano, Maria Margherita Mancardi, Maria Margherita Mancardi, Federico Zara, Federico Zara, Michele Iacomino, Michele Iacomino

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Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of <i>RNF213</i> by Marzia Ognibene, Marcello Scala, Michele Iacomino, Irene Schiavetti, Francesca Madia, Monica Traverso, Sara Guerrisi, Marco Di Duca, Francesco Caroli, Simona Baldassari, Barbara Tappino, Ferruccio Romano, Paolo Uva, Diego Vozzi, Cristina Chelleri, Gianluca Piatelli, Maria Cristina Diana, Federico Zara, Valeria Capra, Marco Pavanello, Patrizia De Marco

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Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders by Michele Iacomino, Nadia Houerbi, Sara Fortuna, Jennifer Howe, Jennifer Howe, Shan Li, Giovanna Scorrano, Giovanna Scorrano, Antonella Riva, Antonella Riva, Kai-Wen Cheng, Mandy Steiman, Iskra Peltekova, Afiqah Yusuf, Simona Baldassari, Serena Tamburro, Paolo Scudieri, Paolo Scudieri, Ilaria Musante, Armando Di Ludovico, Sara Guerrisi, Ganna Balagura, Ganna Balagura

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Neuromuscular and Neuroendocrinological Features Associated With ZC4H2-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report by Gianluca Piccolo, Gianluca Piccolo, Giuseppe d'Annunzio, Elisabetta Amadori, Elisabetta Amadori, Antonella Riva, Antonella Riva, Paola Borgia, Domenico Tortora, Mohamad Maghnie, Mohamad Maghnie, Carlo Minetti, Carlo Minetti, Eloisa Gitto, Michele Iacomino, Simona Baldassari, Chiara Fiorillo, Chiara Fiorillo, Federico Zara, Federico Zara, Pasquale Striano, Pasquale Striano, Vincenzo Salpietro, Vincenzo Salpietro

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Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study by Marcello Scala, Irene Schiavetti, Francesca Madia, Cristina Chelleri, Gianluca Piccolo, Andrea Accogli, Antonella Riva, Vincenzo Salpietro, Renata Bocciardi, Guido Morcaldi, Marco Di Duca, Francesco Caroli, Antonio Verrico, Claudia Milanaccio, Gianmaria Viglizzo, Monica Traverso, Simona Baldassari, Paolo Scudieri, Michele Iacomino, Gianluca Piatelli, Carlo Minetti, Pasquale Striano, Maria Luisa Garrè, Patrizia De Marco, Maria Cristina Diana, Valeria Capra, Marco Pavanello, Federico Zara

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Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development by Michele Iacomino, Simona Baldassari, Yuki Tochigi, Katarzyna Kośla, Francesca Buffelli, Annalaura Torella, Annalaura Torella, Mariasavina Severino, Dario Paladini, Luana Mandarà, Antonella Riva, Marcello Scala, Marcello Scala, Ganna Balagura, Ganna Balagura, Andrea Accogli, Andrea Accogli, Vincenzo Nigro, Vincenzo Nigro, Carlo Minetti, Carlo Minetti, Ezio Fulcheri, Ezio Fulcheri, Federico Zara, Federico Zara, Andrzej K. Bednarek, Pasquale Striano, Pasquale Striano, Hiroetsu Suzuki, Vincenzo Salpietro, Vincenzo Salpietro, Vincenzo Salpietro

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Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients by Alessandro Orsini, Andrea Santangelo, Francesca Bravin, Alice Bonuccelli, Diego Peroni, Roberta Battini, Thomas Foiadelli, Veronica Bertini, Angelo Valetto, Michele Iacomino, Vincenzo Nigro, Anna Laura Torella, Marcello Scala, Valeria Capra, Maria Stella Vari, Anna Fetta, Veronica Di Pisa, Francesca Montanari, Roberta Epifanio, Paolo Bonanni, Roberto Giorda, Francesca Operto, Grazia Pastorino, Esra Sarigecili, Esra Sardaroglu, Cetin Okuyaz, Sevgan Bozdogan, Luciana Musante, Flavio Faletra, Caterina Zanus, Alessandro Ferretti, Federico Vigevano, Pasquale Striano, Duccio Maria Cordelli

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Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders by Paola Borgia, Simona Baldassari, Nicoletta Pedemonte, Ebba Alkhunaizi, Gianluca D’Onofrio, Domenico Tortora, Elisa Calì, Paolo Scudieri, Ganna Balagura, Ilaria Musante, Maria Cristina Diana, Marina Pedemonte, Maria Stella Vari, Michele Iacomino, Antonella Riva, Roberto Chimenz, Giuseppe D. Mangano, Mohammad Hasan Mohammadi, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Shima Imannezhad, Ehsan Ghayoor Karimiani, Andrea Accogli, Maria Cristina Schiaffino, Mohamad Maghnie, Miguel Angel Soler, Karl Echiverri, Charles K. Abrams, Pasquale Striano, Sara Fortuna, Reza Maroofian, Henry Houlden, Federico Zara, Chiara Fiorillo, Vincenzo Salpietro

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Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 by Mark A. Corbett, Thessa Kroes, Liana Veneziano, Mark F. Bennett, Rahel Florian, Amy L. Schneider, Antonietta Coppola, Laura Licchetta, Silvana Franceschetti, Antonio Suppa, Aaron Wenger, Davide Mei, Manuela Pendziwiat, Sabine Kaya, Massimo Delledonne, Rachel Straussberg, Luciano Xumerle, Brigid Regan, Douglas Crompton, Anne-Fleur van Rootselaar, Anthony Correll, Rachael Catford, Francesca Bisulli, Shreyasee Chakraborty, Sara Baldassari, Paolo Tinuper, Kirston Barton, Shaun Carswell, Martin Smith, Alfredo Berardelli, Renee Carroll, Alison Gardner, Kathryn L. Friend, Ilan Blatt, Michele Iacomino, Carlo Di Bonaventura, Salvatore Striano, Julien Buratti, Boris Keren, Caroline Nava, Sylvie Forlani, Gabrielle Rudolf, Edouard Hirsch, Eric Leguern, Pierre Labauge, Simona Balestrini, Josemir W. Sander, Zaid Afawi, Ingo Helbig, Hiroyuki Ishiura, Shoji Tsuji, Sanjay M. Sisodiya, Giorgio Casari, Lynette G. Sadleir, Riaan van Coller, Marina A. J. Tijssen, Karl Martin Klein, Arn M. J. M. van den Maagdenberg, Federico Zara, Renzo Guerrini, Samuel F. Berkovic, Tommaso Pippucci, Laura Canafoglia, Melanie Bahlo, Pasquale Striano, Ingrid E. Scheffer, Francesco Brancati, Christel Depienne, Jozef Gecz

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