Multi-electrode array study of neuronal cultures expressing nicotinic β2-V287L subunits, linked to autosomal dominant nocturnal frontal lobe epilepsy. An in vitro model of spontane...

por Gullo, Francesca, Manfredi, Irene, Lecchi, Marzia, Casari, Giorgio, Wanke, Enzo, Becchetti, Andrea
Publicado 2014

Increased Susceptibility to Cortical Spreading Depression in the Mouse Model of Familial Hemiplegic Migraine Type 2

por Leo, Loredana, Gherardini, Lisa, Barone, Virginia, De Fusco, Maurizio, Pietrobon, Daniela, Pizzorusso, Tommaso, Casari, Giorgio
Publicado 2011

AntiHunter 2.0: increased speed and sensitivity in searching BLAST output for EST antisense transcripts

por Lavorgna, Giovanni, Triunfo, Riccardo, Santoni, Federico, Orfanelli, Ugo, Noci, Sara, Bulfone, Alessandro, Zanetti, Gianluigi, Casari, Giorgio
Publicado 2005

Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia

por Atorino, Luigia, Silvestri, Laura, Koppen, Mirko, Cassina, Laura, Ballabio, Andrea, Marconi, Roberto, Langer, Thomas, Casari, Giorgio
Publicado 2003

Respiratory dysfunction by AFG3L2 deficiency causes decreased mitochondrial calcium uptake via organellar network fragmentation

por Maltecca, Francesca, De Stefani, Diego, Cassina, Laura, Consolato, Francesco, Wasilewski, Michal, Scorrano, Luca, Rizzuto, Rosario, Casari, Giorgio
Publicado 2012

Defective glutamate and K(+) clearance by cortical astrocytes in familial hemiplegic migraine type 2

por Capuani, Clizia, Melone, Marcello, Tottene, Angelita, Bragina, Luca, Crivellaro, Giovanna, Santello, Mirko, Casari, Giorgio, Conti, Fiorenzo, Pietrobon, Daniela
Publicado 2016

Upregulation of Peroxiredoxin 3 Protects Afg3l2-KO Cortical Neurons In Vitro from Oxidative Stress: A Paradigm for Neuronal Cell Survival under Neurodegenerative Conditions

por Bettegazzi, Barbara, Pelizzoni, Ilaria, Salerno Scarzella, Floramarida, Restelli, Lisa Michelle, Zacchetti, Daniele, Maltecca, Francesca, Casari, Giorgio, Grohovaz, Fabio, Codazzi, Franca
Publicado 2019

VarGenius-HZD Allows Accurate Detection of Rare Homozygous or Hemizygous Deletions in Targeted Sequencing Leveraging Breadth of Coverage

por Musacchia, Francesco, Karali, Marianthi, Torella, Annalaura, Laurie, Steve, Policastro, Valeria, Pizzo, Mariateresa, Beltran, Sergi, Casari, Giorgio, Nigro, Vincenzo, Banfi, Sandro
Publicado 2021

Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4

por Cappuccio, Gerarda, Brunetti‐Pierri, Raffaella, Torella, Annalaura, Pinelli, Michele, Castello, Raffaele, Casari, Giorgio, Nigro, Vincenzo, Banfi, Sandro, Simonelli, Francesca, Brunetti‐Pierri, Nicola
Publicado 2019

Cavitating and tigroid‐like leukoencephalopathy in a case of NDUFA2‐related disorder

por Alagia, Marianna, Cappuccio, Gerarda, Torella, Annalaura, D'Amico, Alessandra, Mazio, Federica, Romano, Alfonso, Fecarotta, Simona, Casari, Giorgio, Nigro, Vincenzo, Brunetti‐Pierri, Nicola
Publicado 2020

Novel SCN5A p.V1429M Variant Segregation in a Family with Brugada Syndrome

por Monasky, Michelle M., Micaglio, Emanuele, Ciconte, Giuseppe, Borrelli, Valeria, Giannelli, Luigi, Vicedomini, Gabriele, Ghiroldi, Andrea, Anastasia, Luigi, Locati, Emanuela T., Benedetti, Sara, Di Resta, Chiara, Casari, Giorgio, Pappone, Carlo
Publicado 2020

Whole exome data prioritization unveils the hidden weight of Mendelian causes of male infertility. A report from the first Italian cohort

por Quarantani, Gioia, Sorgente, Anna, Alfano, Massimo, Pipitone, Giovanni Battista, Boeri, Luca, Pozzi, Edoardo, Belladelli, Federico, Pederzoli, Filippo, Ferrara, Anna Maria, Montorsi, Francesco, Moles, Anna, Carrera, Paola, Salonia, Andrea, Casari, Giorgio
Publicado 2023

Impaired flickering of the permeability transition pore causes SPG7 spastic paraplegia

por Sambri, Irene, Massa, Filomena, Gullo, Francesca, Meneghini, Simone, Cassina, Laura, Carraro, Michela, Dina, Giorgia, Quattrini, Angelo, Patanella, Lorenzo, Carissimo, Annamaria, Iuliano, Antonella, Santorelli, Filippo, Codazzi, Franca, Grohovaz, Fabio, Bernardi, Paolo, Becchetti, Andrea, Casari, Giorgio
Publicado 2020

Novel SCN5A p.Val1667Asp Missense Variant Segregation and Characterization in a Family with Severe Brugada Syndrome and Multiple Sudden Deaths

por Monasky, Michelle M., Micaglio, Emanuele, Ciconte, Giuseppe, Rivolta, Ilaria, Borrelli, Valeria, Ghiroldi, Andrea, D’Imperio, Sara, Binda, Anna, Melgari, Dario, Benedetti, Sara, Mitrovic, Predrag, Anastasia, Luigi, Mecarocci, Valerio, Ćalović, Žarko, Casari, Giorgio, Pappone, Carlo
Publicado 2021

Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation

por Tulli, Susanna, Del Bondio, Andrea, Baderna, Valentina, Mazza, Davide, Codazzi, Franca, Pierson, Tyler Mark, Ambrosi, Alessandro, Nolte, Dagmar, Goizet, Cyril, Toro, Camilo, Baets, Jonathan, Deconinck, Tine, DeJonghe, Peter, Mandich, Paola, Casari, Giorgio, Maltecca, Francesca
Publicado 2019

Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways

por Mancini, Cecilia, Roncaglia, Paola, Brussino, Alessandro, Stevanin, Giovanni, Lo Buono, Nicola, Krmac, Helena, Maltecca, Francesca, Gazzano, Elena, Bartoletti Stella, Anna, Calvaruso, Maria Antonietta, Iommarini, Luisa, Cagnoli, Claudia, Forlani, Sylvie, Le Ber, Isabelle, Durr, Alexandra, Brice, Alexis, Ghigo, Dario, Casari, Giorgio, Porcelli, Anna Maria, Funaro, Ada, Gasparre, Giuseppe, Gustincich, Stefano, Brusco, Alfredo
Publicado 2013

Brugada syndrome genetics is associated with phenotype severity

por Ciconte, Giuseppe, Monasky, Michelle M, Santinelli, Vincenzo, Micaglio, Emanuele, Vicedomini, Gabriele, Anastasia, Luigi, Negro, Gabriele, Borrelli, Valeria, Giannelli, Luigi, Santini, Francesca, de Innocentiis, Carlo, Rondine, Roberto, Locati, Emanuela T, Bernardini, Andrea, Mazza, Beniamino C, Mecarocci, Valerio, Ćalović, Žarko, Ghiroldi, Andrea, D’Imperio, Sara, Benedetti, Sara, Di Resta, Chiara, Rivolta, Ilaria, Casari, Giorgio, Petretto, Enrico, Pappone, Carlo
Publicado 2020

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

por Corbett, Mark A., Kroes, Thessa, Veneziano, Liana, Bennett, Mark F., Florian, Rahel, Schneider, Amy L., Coppola, Antonietta, Licchetta, Laura, Franceschetti, Silvana, Suppa, Antonio, Wenger, Aaron, Mei, Davide, Pendziwiat, Manuela, Kaya, Sabine, Delledonne, Massimo, Straussberg, Rachel, Xumerle, Luciano, Regan, Brigid, Crompton, Douglas, van Rootselaar, Anne-Fleur, Correll, Anthony, Catford, Rachael, Bisulli, Francesca, Chakraborty, Shreyasee, Baldassari, Sara, Tinuper, Paolo, Barton, Kirston, Carswell, Shaun, Smith, Martin, Berardelli, Alfredo, Carroll, Renee, Gardner, Alison, Friend, Kathryn L., Blatt, Ilan, Iacomino, Michele, Di Bonaventura, Carlo, Striano, Salvatore, Buratti, Julien, Keren, Boris, Nava, Caroline, Forlani, Sylvie, Rudolf, Gabrielle, Hirsch, Edouard, Leguern, Eric, Labauge, Pierre, Balestrini, Simona, Sander, Josemir W., Afawi, Zaid, Helbig, Ingo, Ishiura, Hiroyuki, Tsuji, Shoji, Sisodiya, Sanjay M., Casari, Giorgio, Sadleir, Lynette G., van Coller, Riaan, Tijssen, Marina A. J., Klein, Karl Martin, van den Maagdenberg, Arn M. J. M., Zara, Federico, Guerrini, Renzo, Berkovic, Samuel F., Pippucci, Tommaso, Canafoglia, Laura, Bahlo, Melanie, Striano, Pasquale, Scheffer, Ingrid E., Brancati, Francesco, Depienne, Christel, Gecz, Jozef
Publicado 2019

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

por Heinzen, Erin L., Swoboda, Kathryn J., Hitomi, Yuki, Gurrieri, Fiorella, Nicole, Sophie, de Vries, Boukje, Tiziano, F. Danilo, Fontaine, Bertrand, Walley, Nicole M., Heavin, Sinéad, Panagiotakaki, Eleni, Fiori, Stefania, Abiusi, Emanuela, Di Pietro, Lorena, Sweney, Matthew T., Newcomb, Tara M., Viollet, Louis, Huff, Chad, Jorde, Lynn B., Reyna, Sandra P., Murphy, Kelley J., Shianna, Kevin V., Gumbs, Curtis E., Little, Latasha, Silver, Kenneth, Ptác̆ek, Louis J., Haan, Joost, Ferrari, Michel D., Bye, Ann M., Herkes, Geoffrey K., Whitelaw, Charlotte M., Webb, David, Lynch, Bryan J., Uldall, Peter, King, Mary D., Scheffer, Ingrid E., Neri, Giovanni, Arzimanoglou, Alexis, van den Maagdenberg, Arn M.J.M., Sisodiya, Sanjay M., Mikati, Mohamad A., Goldstein, David B., Nicole, Sophie, Gurrieri, Fiorella, Neri, Giovanni, de Vries, Boukje, Koelewijn, Stephany, Kamphorst, Jessica, Geilenkirchen, Marije, Pelzer, Nadine, Laan, Laura, Haan, Joost, Ferrari, Michel, van den Maagdenberg, Arn, Zucca, Claudio, Bassi, Maria Teresa, Franchini, Filippo, Vavassori, Rosaria, Giannotta, Melania, Gobbi, Giuseppe, Granata, Tiziana, Nardocci, Nardo, De Grandis, Elisa, Veneselli, Edvige, Stagnaro, Michela, Gurrieri, Fiorella, Neri, Giovanni, Vigevano, Federico, Panagiotakaki, Eleni, Oechsler, Claudia, Arzimanoglou, Alexis, Nicole, Sophie, Giannotta, Melania, Gobbi, Giuseppe, Ninan, Miriam, Neville, Brian, Ebinger, Friedrich, Fons, Carmen, Campistol, Jaume, Kemlink, David, Nevsimalova, Sona, Laan, Laura, Peeters-Scholte, Cacha, van den Maagdenberg, Arn, Casaer, Paul, Casari, Giorgio, Sange, Guenter, Spiel, Georg, Boneschi, Filippo Martinelli, Zucca, Claudio, Bassi, Maria Teresa, Schyns, Tsveta, Crawley, Francis, Poncelin, Dominique, Vavassori, Rosaria
Publicado 2012

Autoantibodies against type I IFNs in patients with life-threatening COVID-19

por Bastard, Paul, Rosen, Lindsey B., Zhang, Qian, Michailidis, Eleftherios, Hoffmann, Hans-Heinrich, Zhang, Yu, Dorgham, Karim, Philippot, Quentin, Rosain, Jérémie, Béziat, Vivien, Manry, Jérémy, Shaw, Elana, Haljasmägi, Liis, Peterson, Pärt, Lorenzo, Lazaro, Bizien, Lucy, Trouillet-Assant, Sophie, Dobbs, Kerry, de Jesus, Adriana Almeida, Belot, Alexandre, Kallaste, Anne, Catherinot, Emilie, Tandjaoui-Lambiotte, Yacine, Le Pen, Jeremie, Kerner, Gaspard, Bigio, Benedetta, Seeleuthner, Yoann, Yang, Rui, Bolze, Alexandre, Spaan, András N., Delmonte, Ottavia M., Abers, Michael S., Aiuti, Alessandro, Casari, Giorgio, Lampasona, Vito, Piemonti, Lorenzo, Ciceri, Fabio, Bilguvar, Kaya, Lifton, Richard P., Vasse, Marc, Smadja, David M., Migaud, Mélanie, Hadjadj, Jérome, Terrier, Benjamin, Duffy, Darragh, Quintana-Murci, Lluis, van de Beek, Diederik, Roussel, Lucie, Vinh, Donald C., Tangye, Stuart G., Haerynck, Filomeen, Dalmau, David, Martinez-Picado, Javier, Brodin, Petter, Nussenzweig, Michel C., Boisson-Dupuis, Stéphanie, Rodríguez-Gallego, Carlos, Vogt, Guillaume, Mogensen, Trine H., Oler, Andrew J., Gu, Jingwen, Burbelo, Peter D., Cohen, Jeffrey I., Biondi, Andrea, Bettini, Laura Rachele, D'Angio, Mariella, Bonfanti, Paolo, Rossignol, Patrick, Mayaux, Julien, Rieux-Laucat, Frédéric, Husebye, Eystein S., Fusco, Francesca, Ursini, Matilde Valeria, Imberti, Luisa, Sottini, Alessandra, Paghera, Simone, Quiros-Roldan, Eugenia, Rossi, Camillo, Castagnoli, Riccardo, Montagna, Daniela, Licari, Amelia, Marseglia, Gian Luigi, Duval, Xavier, Ghosn, Jade, Tsang, John S., Goldbach-Mansky, Raphaela, Kisand, Kai, Lionakis, Michail S., Puel, Anne, Zhang, Shen-Ying, Holland, Steven M., Gorochov, Guy, Jouanguy, Emmanuelle, Rice, Charles M., Cobat, Aurélie, Notarangelo, Luigi D., Abel, Laurent, Su, Helen C., Casanova, Jean-Laurent
Publicado 2020