Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities

by Breuss, Martin, Heng, Julian Ik-Tsen, Poirier, Karine, Tian, Guoling, Jaglin, Xavier Hubert, Qu, Zhengdong, Braun, Andreas, Gstrein, Thomas, Ngo, Linh, Haas, Matilda, Bahi-Buisson, Nadia, Moutard, Marie-Laure, Passemard, Sandrine, Verloes, Alain, Gressens, Pierre, Xie, Yunli, Robson, Kathryn J.H., Rani, Deepa Selvi, Thangaraj, Kumarasamy, Clausen, Tim, Chelly, Jamel, Cowan, Nicholas Justin, Keays, David Anthony
Published 2012

Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood—a study of 155 patients

by Panagiotakaki, Eleni, De Grandis, Elisa, Stagnaro, Michela, Heinzen, Erin L., Fons, Carmen, Sisodiya, Sanjay, de Vries, Boukje, Goubau, Christophe, Weckhuysen, Sarah, Kemlink, David, Scheffer, Ingrid, Lesca, Gaëtan, Rabilloud, Muriel, Klich, Amna, Ramirez-Camacho, Alia, Ulate-Campos, Adriana, Campistol, Jaume, Giannotta, Melania, Moutard, Marie-Laure, Doummar, Diane, Hubsch-Bonneaud, Cecile, Jaffer, Fatima, Cross, Helen, Gurrieri, Fiorella, Tiziano, Danilo, Nevsimalova, Sona, Nicole, Sophie, Neville, Brian, van den Maagdenberg, Arn M. J. M., Mikati, Mohamad, Goldstein, David B., Vavassori, Rosaria, Arzimanoglou, Alexis
Published 2015