Not logged inEpilepsy as a Novel Phenotype of BPTF-Related Disorders
Ferretti, Alessandro; Furlan, Margherita; Glinton, Kevin E.; Fenger, Christina D.; Boschann, Felix; Amlie-Wolf, Louise; Zeidler, Shimriet; Moretti, Raffaella; Stoltenburg, Corinna; Tarquinio, Daniel C.; Furia, Francesca; Parisi, Pasquale; Rubboli, Guido; Devinsky, Orrin; Mignot, Cyril; Gripp, Karen W.; Moller, Rikke S.; Yang, Yaping; Stankiewicz, Pawel; Gardella, Elena .png)
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SaveDe novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonusGalosi, Serena; Edani, Ban H.; Martinelli, Simone; Hansikova, Hana; Eklund, Erik A.; Caputi, Caterina; Masuelli, Laura; Corsten-Janssen, Nicole; Srour, Myriam; Oegema, Renske; Bosch, Danielle G. M.; Ellis, Colin A.; Amlie-Wolf, Louise; Accogli, Andrea; Atallah, Isis; Averdunk, Luisa; Baranano, Kristin W.; Bei, Roberto; Bagnasco, Irene; Brusco, Alfredo; Demarest, Scott; Alaix, Anne-Sophie; Di Bonaventura, Carlo; Distelmaier, Felix; Elmslie, Frances; Gan-Or, Ziv; Good, Jean-Marc; Gripp, Karen; Kamsteeg, Erik-Jan; Macnamara, Ellen; Marcelis, Carlo; Mercier, Noelle; Peeden, Joseph; Pizzi, Simone; Pannone, Luca; Shinawi, Marwan; Toro, Camilo; Verbeek, Nienke E.; Venkateswaran, Sunita; Wheeler, Patricia G.; Zdrazilova, Lucie; Zhang, Rong; Zorzi, Giovanna; Guerrini, Renzo; Sessa, William C.; Lefeber, Dirk; Tartaglia, Marco; Hamdan, Fadi F.; Grabinska, Kariona A.; Leuzzi, Vincenzo Share Save Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fatesMacPherson, Melissa J.; Erickson, Sarah L.; Kopp, Drayden; Wen, Pengqiang; Aghanoori, Mohamad-Reza; Kedia, Shreeya; Burns, Kaylan M. L.; Vitobello, Antonio; Mau-Them, Frederic Tran; Thomas, Quentin; Gold, Nina B.; Brucker, William; Amlie-Wolf, Louise; Gripp, Karen W.; Bodamer, Olaf; Faivre, Laurence; Muona, Mikko; Menzies, Lara; Baptista, Julia; Guegan, Katie; Male, Alison; Wei, Xing-Chang; He, Guiqiong; Long, Quan; Innes, A. Micheil; Yang, Guang Share Save De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic featuresMalhotra, Alka; Ziegler, Alban; Shu, Li; Perrier, Renee; Amlie-Wolf, Louise; Wohler, Elizabeth; Sobreira, Nara Lygia de Macena; Colin, Estelle; Vanderver, Adeline; Sherbini, Omar; Stouffs, Katrien; Scalais, Emmanuel; Serretti, Alessandro; Barth, Magalie; Navet, Benjamin; Rollier, Paul; Xi, Hui; Wang, Hua; Zhang, Hainan; Perry, Denise L.; Ferrarini, Alessandra; Colombo, Roberto; Pepler, Alexander; Schneider, Adele; Tomiwa, Kiyotaka; Okamoto, Nobuhiko; Matsumoto, Naomichi; Miyake, Noriko; Taft, Ryan; Mao, Xiao; Bonneau, Dominique Share Save MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsisMak, Christopher C. Y.; Doherty, Dan; Lin, Angela E.; Vegas, Nancy; Cho, Megan T.; Viot, Geraldine; Dimartino, Clemantine; Weisfeld-Adams, James D.; Lessel, Davor; Joss, Shelagh; Li, Chumei; Gonzaga-Jauregui, Claudia; Zarate, Yuri A.; Ehmke, Nadja; Horn, Denise; Troyer, Caitlin; Kant, Sarina G.; Lee, Youngha; Ishak, Gisele E.; Leung, Gordon; Pritchard, Amanda Barone; Yang, Sandra; Bend, Eric G.; Filippini, Francesca; Roadhouse, Chelsea; Lebrun, Nicolas; Mehaffey, Michele G.; Martin, Pierre-Marie; Apple, Benjamin; Millan, Francisca; Puk, Oliver; Hoffer, Mariette J. V.; Henderson, Lindsay B.; McGowan, Ruth; Wentzensen, Ingrid M.; Pei, Steven; Zahir, Farah R.; Yu, Mullin; Gibson, William T.; Seman, Ann; Steeves, Marcie; Murrell, Jill R.; Luettgen, Sabine; Francisco, Elizabeth; Strom, Tim M.; Amlie-Wolf, Louise; Kaindl, Angela M.; Wilson, William G.; Halbach, Sara; Basel-Salmon, Lina; Lev-El, Noa; Denecke, Jonas; Vissers, Lisenka E. L. M.; Radtke, Kelly; Chelly, Jamel; Zackai, Elaine; Friedman, Jan M.; Bamshad, Michael J.; Nickerson, Deborah A.; Reid, Russell R.; Devriendt, Koenraad; Chae, Jong-Hee; Stolerman, Elliot; McDougall, Carey; Powis, Zoe; Bienvenu, Thierry; Tan, Tiong Y.; Orenstein, Naama; Dobyns, William B.; Shieh, Joseph T.; Choi, Murim; Waggoner, Darrel; Gripp, Karen W.; Parker, Michael J.; Stoler, Joan; Lyonnet, Stanislas; Cormier-Daire, Valerie; Viskochil, David; Hoffman, Trevor L.; Amiel, Jeanne; Chung, Brian H. Y.; Gordon, Christopher T. Share Save 
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