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
Published 2020-10-01

A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes

by Rosaria Nardello, Vincenzo Antona, Giuseppe Donato Mangano, Vincenzo Salpietro, Salvatore Mangano, Antonina Fontana
Published 2021-04-01

Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families

by Muhammad Ilyas, Stephanie Efthymiou, Vincenzo Salpietro, Nuzhat Noureen, Faisal Zafar, Sobiah Rauf, Asif Mir, Henry Houlden
Published 2020-03-01

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
Published 2020-06-01

Adrenal Disorders and the Paediatric Brain: Pathophysiological Considerations and Clinical Implications

by Vincenzo Salpietro, Agata Polizzi, Gabriella Di Rosa, Anna Claudia Romeo, Valeria Dipasquale, Paolo Morabito, Valeria Chirico, Teresa Arrigo, Martino Ruggieri
Published 2014-01-01

PRRT2 Regulates Synaptic Fusion by Directly Modulating SNARE Complex Assembly

by Jeff Coleman, Ouardane Jouannot, Sathish K. Ramakrishnan, Maria N. Zanetti, Jing Wang, Vincenzo Salpietro, Henry Houlden, James E. Rothman, Shyam S. Krishnakumar
Published 2018-01-01

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
Published 2021-07-01

Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking

by Haicui Wang, Haicui Wang, Ayşe Kaçar Bayram, Rosanne Sprute, Rosanne Sprute, Ozkan Ozdemir, Ozkan Ozdemir, Emily Cooper, Matthias Pergande, Matthias Pergande, Stephanie Efthymiou, Ivana Nedic, Neda Mazaheri, Neda Mazaheri, Katharina Stumpfe, Reza Azizi Malamiri, Gholamreza Shariati, Gholamreza Shariati, Jawaher Zeighami, Nurettin Bayram, Seyed Kianoosh Naghibzadeh, Mohamad Tajik, Mehmet Yaşar, Ahmet Sami Güven, Farah Bibi, Tipu Sultan, Vincenzo Salpietro, Vincenzo Salpietro, Vincenzo Salpietro, Henry Houlden, Hüseyin Per, Hamid Galehdari, Bita Shalbafan, Yalda Jamshidi, Sebahattin Cirak, Sebahattin Cirak
Published 2019-10-01

Hyperhomocysteinemia and MTHFR Polymorphisms as Antenatal Risk Factors of White Matter Abnormalities in Two Cohorts of Late Preterm and Full Term Newborns

by Lucia M. Marseglia, Antonio Nicotera, Vincenzo Salpietro, Elisa Giaimo, Giovanna Cardile, Maria Bonsignore, Angela Alibrandi, Daniela Caccamo, Sara Manti, Gabriella D’Angelo, Carmelo Mamì, Gabriella Di Rosa
Published 2015-01-01

Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia

by Conceição Bettencourt, Vincenzo Salpietro, Stephanie Efthymiou, Viorica Chelban, Deborah Hughes, Alan M. Pittman, Monica Federoff, Thomas Bourinaris, Martha Spilioti, Georgia Deretzi, Triantafyllia Kalantzakou, Henry Houlden, Andrew B. Singleton, Georgia Xiromerisiou
Published 2017-11-01

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
Published 2021-04-01

Prominent and Regressive Brain Developmental Disorders Associated with Nance-Horan Syndrome

by Celeste Casto, Valeria Dipasquale, Ida Ceravolo, Antonella Gambadauro, Emanuela Aliberto, Karol Galletta, Francesca Granata, Giorgia Ceravolo, Emanuela Falzia, Antonella Riva, Gianluca Piccolo, Maria Concetta Cutrupi, Pasquale Striano, Andrea Accogli, Federico Zara, Gabriella Di Rosa, Eloisa Gitto, Elisa Calì, Stephanie Efthymiou, Vincenzo Salpietro, Henry Houlden, Roberto Chimenz
Published 2021-08-01

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
Published 2021-04-01

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

by Vincenzo Salpietro, Christine L. Dixon, Hui Guo, Oscar D. Bello, Jana Vandrovcova, Stephanie Efthymiou, Reza Maroofian, Gali Heimer, Lydie Burglen, Stephanie Valence, Erin Torti, Moritz Hacke, Julia Rankin, Huma Tariq, Estelle Colin, Vincent Procaccio, Pasquale Striano, Kshitij Mankad, Andreas Lieb, Sharon Chen, Laura Pisani, Conceicao Bettencourt, Roope Männikkö, Andreea Manole, Alfredo Brusco, Enrico Grosso, Giovanni Battista Ferrero, Judith Armstrong-Moron, Sophie Gueden, Omer Bar-Yosef, Michal Tzadok, Kristin G. Monaghan, Teresa Santiago-Sim, Richard E. Person, Megan T. Cho, Rebecca Willaert, Yongjin Yoo, Jong-Hee Chae, Yingting Quan, Huidan Wu, Tianyun Wang, Raphael A. Bernier, Kun Xia, Alyssa Blesson, Mahim Jain, Mohammad M. Motazacker, Bregje Jaeger, Amy L. Schneider, Katja Boysen, Alison M. Muir, Candace T. Myers, Ralitza H. Gavrilova, Lauren Gunderson, Laura Schultz-Rogers, Eric W. Klee, David Dyment, Matthew Osmond, Mara Parellada, Cloe Llorente, Javier Gonzalez-Peñas, Angel Carracedo, Arie Van Haeringen, Claudia Ruivenkamp, Caroline Nava, Delphine Heron, Rosaria Nardello, Michele Iacomino, Carlo Minetti, Aldo Skabar, Antonella Fabretto, SYNAPS Study Group, Miquel Raspall-Chaure, Michael Chez, Anne Tsai, Emily Fassi, Marwan Shinawi, John N. Constantino, Rita De Zorzi, Sara Fortuna, Fernando Kok, Boris Keren, Dominique Bonneau, Murim Choi, Bruria Benzeev, Federico Zara, Heather C. Mefford, Ingrid E. Scheffer, Jill Clayton-Smith, Alfons Macaya, James E. Rothman, Evan E. Eichler, Dimitri M. Kullmann, Henry Houlden
Published 2019-07-01