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Mosaic expression of SLC35A2 pathogenetic variants impairs neuronal migration and dendritogenesis in the developing cortex Falace, Antonio; Corbieres, Lea; Silvagnoli, Lucas; Pelorosso, Cristiana; di San Carlo, Clara Tuccari; Buhler, Emmanuelle; Hoteit, Zeinab; Bauer, Sylvian; Risso, Beatrice; Cesar, Quenol; Pallesi-Pocachard, Emilie; Manent, Jean-Bernard; Barba, Carmen; Guerrini, Renzo; Cardoso, Carlos; Conti, Valerio Share Save
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RICTOR variants are associated with neurodevelopmental disorders Carapito, Raphael; Molitor, Anne; Pavinato, Lisa; Skeyni, Alaa; Lambert, Magalie; Pichot, Angelique; Jiang, Jiuhong; Spinnhirny, Perrine; Zimmermann, Lucie; Boucher, Philippe; Chung, Clara W. T.; Elserafy, Noha; Blair, Edward M.; Li, Dong; Elisabeth, Bhoj; Kotzaeridou, Urania; Karch, Stephanie; Wagner, Matias; Lunsing, Roelineke J.; Pfundt, Rolph; Boycott, Kym M.; Bruel, Ange-Line; Mau-Them, Frederic Tran; Moutton, Sebastien; Conti, Valerio; Mei, Davide; Cetica, Valentina; Guerrini, Renzo; Brunet, Theresa; Rump, Patrick; Mussa, Alessandro; Brusco, Alfredo; Lemire, Gabrielle; de Vries, Bert B. A.; Miao, Zhichao; Isidor, Bertrand; Bahram, Seiamak Share Save
Morphometric network-based abnormalities correlate with psychiatric comorbidities and gene expression in PCDH19-related developmental and epileptic encephalopathy Lenge, Matteo; Balestrini, Simona; Napolitano, Antonio; Mei, Davide; Conti, Valerio; Baldassarri, Giulia; Trivisano, Marina; Pellacani, Simona; Macconi, Letizia; Longo, Daniela; Rossi Espagnet, Maria Camilla; Cappelletti, Simona; Ferrari, Annarita; Pisano, Tiziana; Sicca, Federico; Striano, Pasquale; D'Incerti, Ludovico; Barba, Carmen; Specchio, Nicola; Guerrini, Renzo Share Save
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration Vetro, Annalisa; Pelorosso, Cristiana; Balestrini, Simona; Masi, Alessio; Hambleton, Sophie; Argilli, Emanuela; Conti, Valerio; Giubbolini, Simone; Barrick, Rebekah; Bergant, Gaber; Writzl, Karin; Bijlsma, Emilia K.; Brunet, Theresa; Cacheiro, Pilar; Mei, Davide; Devlin, Anita; Hoffer, Mariette J. V.; Machol, Keren; Mannaioni, Guido; Sakamoto, Masamune; Menezes, Manoj P.; Courtin, Thomas; Sherr, Elliott; Parra, Riccardo; Richardson, Ruth; Roscioli, Tony; Scala, Marcello; von Stuelpnagel, Celina; Smedley, Damian; Torella, Annalaura; Tohyama, Jun; Koichihara, Reiko; Hamada, Keisuke; Ogata, Kazuhiro; Suzuki, Takashi; Sugie, Atsushi; van der Smagt, Jasper J.; van Gassen, Koen; Valence, Stephanie; Vittery, Emma; Malone, Stephen; Kato, Mitsuhiro; Matsumoto, Naomichi; Ratto, Gian Michele; Guerrini, Renzo Share Save
Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development Chung, Changuk; Yang, Xiaoxu; Bae, Taejeong; Vong, Keng Ioi; Mittal, Swapnil H.; Donkels, Catharina; Westley Phillips, H.; Li, Zhen; Marsh, Ashley P. L.; Breuss, Martin; Ball, Laurel; Garcia, Camila Araujo Bernardino; George, Renee; Gu, Jing; Xu, Mingchu; Barrows, Chelsea; James, Kiely; Stanley, Valentina; Nidhiry, Anna; Khoury, Sami; Howe, Gabrielle; Riley, Emily; Xu, Xin; Copeland, Brett; Wang, Yifan G.; Kim, Se Hoon L.; Kang, Hoon-Chul W.; Schulze-Bonhage, Andreas; Haas, Carola; Urbach, Horst; Prinz, Marco; Limbrick, David A.; Gurnett, Christina; Smyth, Matthew C.; Sattar, Shifteh M.; Nespeca, Mark B.; Gonda, David V.; Imai, Katsumi Y.; Takahashi, Yukitoshi E.; Chen, Hsin-Hung B.; Tsai, Jin-Wu; Conti, Valerio; Guerrini, Renzo; Devinsky, Orrin; Silva, Wilson; Machado, Helio M.; Mathern, Gary; Abyzov, Alexej; Baldassari, Sara; Baulac, Stephanie; Gleeson, Joseph G. Share Save
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Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care Pirozzi, Filomena; Berkseth, Matthew; Shear, Rylee; Gonzalez, Lorenzo; Timms, Andrew E.; Sulc, Josef; Pao, Emily; Oyama, Nora; Forzano, Francesca; Conti, Valerio; Guerrini, Renzo; Doherty, Emily S.; Saitta, Sulagna C.; Lockwood, Christina M.; Pritchard, Colin C.; Dobyns, William B.; Novotny, Edward; Wright, Jason N. N.; Saneto, Russell P.; Friedman, Seth; Hauptman, Jason; Ojemann, Jeffrey; Kapur, Raj P.; Mirzaa, Ghayda M. Share Save
Prospective Evaluation of Ghrelin and Des-Acyl Ghrelin Plasma Levels in Children with Newly Diagnosed Epilepsy: Evidence for Reduced Ghrelin-to-Des-Acyl Ghrelin Ratio in Generalized Epilepsies Costa, Anna-Maria; Lo Barco, Tommaso; Spezia, Elisabetta; Conti, Valerio; Roli, Laura; Marini, Lorenza; Minghetti, Sara; Caramaschi, Elisa; Pietrangelo, Laura; Pecoraro, Luca; D'Achille, Fabio; Accorsi, Paola; Trenti, Tommaso; Melani, Federico; Marini, Carla; Guerrini, Renzo; Darra, Francesca; Bergonzini, Patrizia; Biagini, Giuseppe Share Save
Circulating tumor cells and palbociclib treatment in patients with ER-positive, HER2-negative advanced breast cancer: results from a translational sub-study of the TREnd trial Galardi, Francesca; De Luca, Francesca; Biagioni, Chiara; Migliaccio, Ilenia; Curigliano, Giuseppe; Minisini, Alessandro M.; Bonechi, Martina; Moretti, Erica; Risi, Emanuela; McCartney, Amelia; Benelli, Matteo; Romagnoli, Dario; Cappadona, Silvia; Gabellini, Stefano; Guarducci, Cristina; Conti, Valerio; Biganzoli, Laura; Di Leo, Angelo; Malorni, Luca Share Save
Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder? Guerrini, Renzo; Cavallin, Mara; Pippucci, Tommaso; Rosati, Anna; Bisulli, Francesca; Dimartino, Paola; Barba, Carmen; Garbelli, Rita; Buccoliero, Anna Maria; Tassi, Laura; Conti, Valerio Share Save
Somatic Focal Copy Number Gains of Noncoding Regions of Receptor Tyrosine Kinase Genes in Treatment-Resistant Epilepsy Vasudevaraja, Varshini; Rodriguez, Javier Hernaez; Pelorosso, Cristiana; Zhu, Kaicen; Buccoliero, Anna Maria; Onozato, Maristela; Mohamed, Hussein; Serrano, Jonathan; Tredwin, Lily; Garonzi, Marianna; Forcato, Claudio; Zeck, Briana; Ramaswami, Sitharam; Stafford, James; Faustin, Arline; Friedman, Daniel; Hidalgo, Eveline Teresa; Zagzag, David; Skok, Jane; Heguy, Adriana; Chiriboga, Luis; Conti, Valerio; Guerrini, Renzo; Iafrate, A. John; Devinsky, Orrin; Tsirigos, Aristotelis; Golfinos, John G.; Snuderl, Matija Share Save
International consensus recommendations on the diagnostic work-up for malformations of cortical development Oegema, Renske; Barakat, Tahsin Stefan; Wilke, Martina; Stouffs, Katrien; Amrom, Dina; Aronica, Eleonora; Bahi-Buisson, Nadia; Conti, Valerio; Fry, Andrew E.; Geis, Tobias; Gomez Andres, David; Parrini, Elena; Pogledic, Ivana; Said, Edith; Soler, Doriette; Valor, Luis M.; Zaki, Maha S.; Mirzaa, Ghayda; Dobyns, William B.; Reiner, Orly; Guerrini, Renzo; Pilz, Daniela T.; Hehr, Ute; Leventer, Richard J.; Jansen, Anna C.; Mancini, Grazia M. S.; Di Donato, Nataliya Share Save
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Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course Esposito, Alessandro; Falace, Antonio; Wagner, Matias; Gal, Moran; Mei, Davide; Conti, Valerio; Pisano, Tiziana; Aprile, Davide; Cerullo, Maria Sabina; De Fusco, Antonio; Giovedi, Silvia; Seibt, Annette; Magen, Daniella; Polster, Tilman; Eran, Ayelet; Stenton, Sarah L.; Fiorillo, Chiara; Ravid, Sarit; Mayatepek, Ertan; Hafner, Hava; Wortmann, Saskia; Levanon, Erez Y.; Marini, Carla; Mandel, Hanna; Benfenati, Fabio; Distelmaier, Felix; Fassio, Anna; Guerrini, Renzo Share Save
Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy Pelorosso, Cristiana; Watrin, Francoise; Conti, Valerio; Buhler, Emmanuelle; Gelot, Antoinette; Yang, Xiaoxu; Mei, Davide; McEvoy-Venneri, Jennifer; Manent, Jean-Bernard; Cetica, Valentina; Ball, Laurel L.; Buccoliero, Anna Maria; Vinck, Antonin; Barba, Carmen; Gleeson, Joseph G.; Guerrini, Renzo; Represa, Alfonso Share Save
The landscape of epilepsy-related GATOR1 variants (vol 21, pg 398, 2019) Baldassari, Sara; Picard, Fabienne; Verbeek, Nienke E.; van Kempen, Marjan; Brilstra, Eva H.; Lesca, Gaetan; Conti, Valerio; Guerrini, Renzo; Bisulli, Francesca; Licchetta, Laura; Pippucci, Tommaso; Tinuper, Paolo; Hirsch, Edouard; de Saint Martin, Anne; Chelly, Jamel; Rudolf, Gabrielle; Chipaux, Mathilde; Ferrand-Sorbets, Sarah; Dorfmuller, Georg; Sisodiya, Sanjay; Balestrini, Simona; Schoeler, Natasha; Hernandez-Hernandez, Laura; Krithika, S.; Oegema, Renske; Hagebeuk, Eveline; Gunning, Boudewijn; Deckers, Charles; Berghuis, Bianca; Wegner, Ilse; Niks, Erik H.; Jansen, Floor E.; Braun, Kees; de Jong, Danielle; Rubboli, Guido; Talvik, Inga; Sander, Valentin; Uldall, Peter; Jacquemont, Marie-Line; Nava, Caroline; Leguern, Eric; Julia, Sophie; Gambardella, Antonio; d'Orsi, Giuseppe; Crichiutti, Giovanni; Faivre, Laurence; Darmency, Veronique; Benova, Barbora; Krsek, Pavel; Biraben, Arnaud; Lebre, Anne-Sophie; Jennesson, Melanie; Sattar, Shifteh; Marchal, Cecile; Nordli, Douglas R., Jr.; Lindstrom, Kristin; Striano, Pasquale; Lomax, Lysa Boisse; Kiss, Courtney; Bartolomei, Fabrice; Lepine, Anne Fabienne; Schoonjans, An-Sofie; Stouffs, Katrien; Jansen, Anna; Panagiotakaki, Eleni; Ricard-Mousnier, Brigitte; Thevenon, Julien; de Bellescize, Julitta; Catenoix, Helene; Dorn, Thomas; Zenker, Martin; Muller-Schluter, Karen; Brandt, Christian; Krey, Ilona; Polster, Tilman; Wolff, Markus; Balci, Meral; Rostasy, Kevin; Achaz, Guillaume; Zacher, Pia; Becher, Thomas; Cloppenborg, Thomas; Yuskaitis, Christopher J.; Weckhuysen, Sarah; Poduri, Annapurna; Lemke, Johannes R.; Moller, Rikke S.; Baulac, Stephanie Share Save
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