Motor, epileptic, and developmental phenotypes in genetic disorders affecting G protein coupled receptors-cAMP signaling

por Galosi, Serena, Pollini, Luca, Novelli, Maria, Bernardi, Katerina, Di Rocco, Martina, Martinelli, Simone, Leuzzi, Vincenzo
Publicado 2022

Phenotypic Assessment of Pathogenic Variants in GNAO1 and Response to Caffeine in C. elegans Models of the Disease

por Di Rocco, Martina, Galosi, Serena, Follo, Francesca C., Lanza, Enrico, Folli, Viola, Martire, Alberto, Leuzzi, Vincenzo, Martinelli, Simone
Publicado 2023

Identification of circular RNAs in porcine sperm and evaluation of their relation to sperm motility

por Gòdia, Marta, Castelló, Anna, Rocco, Martina, Cabrera, Betlem, Rodríguez-Gil, Joan Enric, Balasch, Sam, Lewis, Craig, Sánchez, Armand, Clop, Alex
Publicado 2020

C. elegans-based chemosensation strategy for the early detection of cancer metabolites in urine samples

por Lanza, Enrico, Di Rocco, Martina, Schwartz, Silvia, Caprini, Davide, Milanetti, Edoardo, Ferrarese, Giuseppe, Lonardo, Maria Teresa, Pannone, Luca, Ruocco, Giancarlo, Martinelli, Simone, Folli, Viola
Publicado 2021

Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia

por Di Rocco, Martina, Galosi, Serena, Lanza, Enrico, Tosato, Federica, Caprini, Davide, Folli, Viola, Friedman, Jennifer, Bocchinfuso, Gianfranco, Martire, Alberto, Di Schiavi, Elia, Leuzzi, Vincenzo, Martinelli, Simone
Publicado 2021

The recurrent pathogenic Pro890Leu substitution in CLTC causes a generalized defect in synaptic transmission in Caenorhabditis elegans

por Pannone, Luca, Muto, Valentina, Nardecchia, Francesca, Di Rocco, Martina, Marchei, Emilia, Tosato, Federica, Petrini, Stefania, Onorato, Giada, Lanza, Enrico, Bertuccini, Lucia, Manti, Filippo, Folli, Viola, Galosi, Serena, Di Schiavi, Elia, Leuzzi, Vincenzo, Tartaglia, Marco, Martinelli, Simone
Publicado 2023

A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function

por Lam, Michael T., Coppola, Simona, Krumbach, Oliver H.F., Prencipe, Giusi, Insalaco, Antonella, Cifaldi, Cristina, Brigida, Immacolata, Zara, Erika, Scala, Serena, Di Cesare, Silvia, Martinelli, Simone, Di Rocco, Martina, Pascarella, Antonia, Niceta, Marcello, Pantaleoni, Francesca, Ciolfi, Andrea, Netter, Petra, Carisey, Alexandre F., Diehl, Michael, Akbarzadeh, Mohammad, Conti, Francesca, Merli, Pietro, Pastore, Anna, Levi Mortera, Stefano, Camerini, Serena, Farina, Luciapia, Buchholzer, Marcel, Pannone, Luca, Cao, Tram N., Coban-Akdemir, Zeynep H., Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Basso-Ricci, Luca, Chiriaco, Maria, Dvorsky, Radovan, Putignani, Lorenza, Carsetti, Rita, Janning, Petra, Stray-Pedersen, Asbjorg, Erichsen, Hans Christian, Horne, AnnaCarin, Bryceson, Yenan T., Torralba-Raga, Lamberto, Ramme, Kim, Rosti, Vittorio, Bracaglia, Claudia, Messia, Virginia, Palma, Paolo, Finocchi, Andrea, Locatelli, Franco, Chinn, Ivan K., Lupski, James R., Mace, Emily M., Cancrini, Caterina, Aiuti, Alessandro, Ahmadian, Mohammad R., Orange, Jordan S., De Benedetti, Fabrizio, Tartaglia, Marco
Publicado 2019