New Diagnosis of Atypical Ataxia-Telangiectasia in a 17-Year-Old Boy with T-Cell Acute Lymphoblastic Leukemia and a Novel ATM mutation

por Roohi, Jasmin, Crowe, Jennifer, Loredan, Denis, Anyane-Yeboa, Kwame, Mansukhani, Mahesh M., Omesi, Lenore, Levine, Jennifer, Politi, Anya Revah, Zha, Shan
Publicado 2017

ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal network...

por Teunissen, Maria W A, Lewerissa, Elly, van Hugte, Eline J H, Wang, Shan, Ockeloen, Charlotte W, Koolen, David A, Pfundt, Rolph, Marcelis, Carlo L M, Brilstra, Eva, Howe, Jennifer L, Scherer, Stephen W, Le Guillou, Xavier, Bilan, Frédéric, Primiano, Michelle, Roohi, Jasmin, Piton, Amelie, de Saint Martin, Anne, Baer, Sarah, Seiffert, Simone, Platzer, Konrad, Jamra, Rami Abou, Syrbe, Steffen, Doering, Jan H, Lakhani, Shenela, Nangia, Srishti, Gilissen, Christian, Vermeulen, R Jeroen, Rouhl, Rob P W, Brunner, Han G, Willemsen, Marjolein H, Nadif Kasri, Nael
Publicado 2023