Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1
STXBP1致病变异个体的自然史和发育轨迹
期刊:Neurology
影响因子:8.5
doi:10.1212/WNL.0000000000207550
Thalwitzer, Kim M; Driedger, Jan H; Xian, Julie; Saffari, Afshin; Zacher, Pia; Bölsterli, Bigna K; Ruggiero, Sarah McKeown; Sullivan, Katie Rose; Datta, Alexandre N; Kellinghaus, Christoph; Althaus, Jürgen; Wiemer-Kruel, Adelheid; van Baalen, Andreas; Pampel, Armin; Alber, Michael; Braakman, Hilde M H; Debus, Otfried M; Denecke, Jonas; Hobbiebrunken, Elke; Breitweg, Ina; Diehl, Danielle; Eitel, Hans; Gburek-Augustat, Janina; Preisel, Martin; Schlump, Jan-Ulrich; Laufs, Mirjam; Mammadova, Dilbar; Wurst, Carsten; Prager, Christine; Löhr-Nilles, Christa; Martin, Peter; Garbade, Sven F; Platzer, Konrad; Benkel-Herrenbrueck, Ira; Egler, Kerstin; Fazeli, Walid; Lemke, Johannes R; Runkel, Eva; Klein, Barbara; Linden, Tobias; Schröter, Julian; Steffeck, Heike; Thies, Bastian; von Deimling, Florian; Illsinger, Sabine; Borggraefe, Ingo; Classen, Georg; Wieczorek, Dagmar; Ramantani, Georgia; Koelker, Stefan; Hoffmann, Georg F; Ries, Markus; Helbig, Ingo; Syrbe, Steffen