Role of IL-1 beta in the development of human T(H)17 cells: lesson from NLPR3 mutated patients.

by Denise Lasigliè, Elisabetta Traggiai, Silvia Federici, Maria Alessio, Antonella Buoncompagni, Andrea Accogli, Sabrina Chiesa, Federica Penco, Alberto Martini, Marco Gattorno
Published 2011-01-01

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

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
Published 2021-01-01

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

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

by Jennifer Friedman, Desiree E. Smith, Mahmoud Y. Issa, Valentina Stanley, Rengang Wang, Marisa I. Mendes, Meredith S. Wright, Kristen Wigby, Amber Hildreth, John R. Crawford, Alanna E. Koehler, Shimul Chowdhury, Shareef Nahas, Liting Zhai, Zhiwen Xu, Wing-Sze Lo, Kiely N. James, Damir Musaev, Andrea Accogli, Kether Guerrero, Luan T. Tran, Tarek E. I. Omar, Tawfeg Ben-Omran, David Dimmock, Stephen F. Kingsmore, Gajja S. Salomons, Maha S. Zaki, Geneviève Bernard, Joseph G. Gleeson
Published 2019-02-01