• TREX1 p.A129fs and p.Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patients 

      Foddis, Marco; Blumenau, Sonja; Holtgrewe, Manuel; Paquette, Kimberly; Westra, Kaitlyn; Alonso, Isabel; Macario, Maria do Carmo; Morgadinho, Ana Sofia; Velon, Ana Graça; Santo, Gustavo; Santana, Isabel; Mönkäre, Saana; Kuuluvainen, Liina; Schleutker, Johanna; Pöyhönen, Minna; Myllykangas, Liisa; Pavlović, Aleksandra; Kostic, Vladimir; Dobricic, Valerija; Lohmann, Ebba; Hanagasi, Hasmet; Santos, Mariana; Guven, Gamze; Bilgic, Basar; Bras, Jose; Beule, Dieter; Dirnagl, Ulrich; Guerreiro, Rita; Sassi, Celeste (Elsevier, 2023)