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CSMD1 regulates brain complement activity and circuit development Baum, Matthew L.; Wilton, Daniel K.; Fox, Rachel G.; Carey, Alanna; Hsu, Yu-Han H.; Hu, Ruilong; Jantti, Henna J.; Fahey, Jaclyn B.; Muthukumar, Allie K.; Salla, Nikkita; Crotty, William; Scott-Hewitt, Nicole; Bien, Elizabeth; Sabatini, David A.; Lanser, Toby B.; Frouin, Arnaud; Gergits, Frederick; Havik, Bjarte; Gialeli, Chrysostomi; Nacu, Eugene; Lage, Kasper; Blom, Anna M.; Eggan, Kevin; McCarroll, Steven A.; Johnson, Matthew B.; Stevens, Beth Share Save
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities Scala, Marcello; Khan, Kamal; Beneteau, Claire; Fox, Rachel G.; von Hardenberg, Sandra; Khan, Ayaz; Joubert, Madeleine; Fievet, Lorraine; Musquer, Marie; Le Vaillant, Claudine; Holsclaw, Julie Korda; Lim, Derek; Berking, Ann-Cathrine; Accogli, Andrea; Giacomini, Thea; Nobili, Lino; Striano, Pasquale; Zara, Federico; Torella, Annalaura; Nigro, Vincenzo; Cogne, Benjamin; Salick, Max R.; Kaykas, Ajamete; Eggar, Kevin; Capra, Valeria; Bezieau, Stephane; Davis, Erica E.; Wells, Michael F. Share Save
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation Cif, Laura; Demailly, Diane; Lin, Jean-Pierre; Barwick, Katy E.; Sa, Mario; Abela, Lucia; Malhotra, Sony; Chong, Wui K.; Steel, Dora; Sanchis-Juan, Alba; Ngoh, Adeline; Trump, Natalie; Meyer, Esther; Vasques, Xavier; Rankin, Julia; Allain, Meredith W.; Applegate, Carolyn D.; Isfahani, Sanaz Attaripour; Baleine, Julien; Balint, Bettina; Bassetti, Jennifer A.; Baple, Emma L.; Bhatia, Kailash P.; Blanchet, Catherine; Burglen, Lydie; Cambonie, Gilles; Seng, Emilie Chan; Bastaraud, Sandra Chantot; Cyprien, Fabienne; Coubes, Christine; D'Hardemare, Vincent; Doja, Asif; Dorison, Nathalie; Doummar, Diane; Dy-Hollins, Marisela E.; Farrelly, Ellyn; Fitzpatrick, David R.; Fearon, Conor; Fieg, Elizabeth L.; Fogel, Brent L.; Forman, Eva B.; Fox, Rachel G.; Gahl, William A.; Galosi, Serena; Gonzalez, Victoria; Graves, Tracey D.; Gregory, Allison; Hallett, Mark; Hasegawa, Harutomo; Hayflick, Susan J.; Hamosh, Ada; Hully, Marie; Jansen, Sandra; Jeong, Suh Young; Krier, Joel B.; Krystal, Sidney; Kumar, Kishore R.; Laurencin, Chloe; Lee, Hane; Lesca, Gaetan; Francois, Laurence Lion; Lynch, Timothy; Mahant, Neil; Martinez-Agosto, Julian A.; Milesi, Christophe; Mills, Kelly A.; Mondain, Michel; Morales-Briceno, Hugo; Ostergaard, John R.; Pal, Swasti; Pallais, Juan C.; Pavillard, Frederique; Perrigault, Pierre-Francois; Petersen, Andrea K.; Polo, Gustavo; Poulen, Gaetan; Rinne, Tuula; Roujeau, Thomas; Rogers, Caleb; Roubertie, Agathe; Sahagian, Michelle; Schaefer, Elise; Selim, Laila; Selway, Richard; Sharma, Nutan; Signer, Rebecca; Soldatos, Ariane G.; Stevenson, David A.; Stewart, Fiona; Tchan, Michel; Verma, Ishwar C.; de Vries, Bert B. A.; Wilson, Jenny L.; Wong, Derek A.; Zaitoun, Raghda; Zhen, Dolly; Znaczko, Anna; Dale, Russell C.; de Gusmao, Claudio M.; Friedman, Jennifer; Fung, Victor S. C.; King, Mary D.; Mohammad, Shekeeb S.; Rohena, Luis; Waugh, Jeff L.; Toro, Camilo; Raymond, F. Lucy; Topf, Maya; Coubes, Philippe; Gorman, Kathleen M.; Kurian, Manju A. Share Save
A Complement C3-Specific Nanobody for Modulation of the Alternative Cascade Identifies the C-Terminal Domain of C3b as Functional in C5 Convertase Activity Pedersen, Henrik; Jensen, Rasmus K.; Jensen, Jens Magnus B.; Fox, Rachel; Pedersen, Dennis, V; Olesen, Heidi G.; Hansen, Annette G.; Christiansen, Dorte; Mazarakis, Sofia M. M.; Lojek, Neal; Hansen, Pernille; Gadeberg, Trine A. F.; Zarantonello, Alessandra; Laursen, Nick S.; Mollnes, Tom Eirik; Johnson, Matthew B.; Stevens, Beth; Thiel, Steffen; Andersen, Gregers R. Share Save
An Ultrahigh-Affinity Complement C4b-Specific Nanobody Inhibits In Vivo Assembly of the Classical Pathway Proconvertase Zarantonello, Alessandra; Presumey, Jessy; Simoni, Lea; Yalcin, Esra; Fox, Rachel; Hansen, Annette; Olesen, Heidi Gytz; Thiel, Steffen; Johnson, Matthew B.; Stevens, Beth; Laursen, Nick Stub; Carroll, Michael C.; Andersen, Gregers R. Share Save
4′-Phosphopantetheine corrects CoA, iron, and dopamine metabolic defects in mammalian models of PKAN Jeong, Suh Young; Hogarth, Penelope; Placzek, Andrew; Gregory, Allison M.; Fox, Rachel; Zhen, Dolly; Hamada, Jeffrey; van der Zwaag, Marianne; Lambrechts, Roald; Jin, Haihong; Nilsen, Aaron; Cobb, Jared S.; Pham, Thao; Gray, Nora; Ralle, Martina; Du, Megan; Schwanemann, Leila; Rai, Puneet; Freed, Alison; Wakeman, Katrina; Woltjer, Randall L.; Sibon, Ody C. M.; Hayflick, Susan J. Share Save
Acetyl-4′-phosphopantetheine is stable in serum and prevents phenotypes induced by pantothenate kinase deficiency Di Meo, Ivano; Colombelli, Cristina; Srinivasan, Balaji; de Villiers, Marianne; Hamada, Jeffrey; Jeong, Suh Y.; Fox, Rachel; Woltjer, Randall L.; Tepper, Pieter G.; Lahaye, Liza L.; Rizzetto, Emanuela; Harrs, Clara H.; de Boer, Theo; van der Zwaag, Marianne; Jenko, Branko; Cusak, Alen; Pahor, Jerca; Kosec, Gregor; Grzeschik, Nicola A.; Hayflick, Susan J.; Tiranti, Valeria; Sibon, Ody C. M. Share Save
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