Altered gene expression profiles impair the nervous system development in individuals with 15q13.3 microdeletion

por Körner, Marek B., Velluva, Akhil, Bundalian, Linnaeus, Radtke, Maximilian, Lin, Chen-Ching, Zacher, Pia, Bartolomaeus, Tobias, Kirstein, Anna S., Mrestani, Achmed, Scholz, Nicole, Platzer, Konrad, Teichmann, Anne-Christin, Hentschel, Julia, Langenhan, Tobias, Lemke, Johannes R., Garten, Antje, Abou Jamra, Rami, Le Duc, Diana
Publicado 2022

The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals

por Zacher, Pia, Mayer, Thomas, Brandhoff, Frank, Bartolomaeus, Tobias, Le Duc, Diana, Finzel, Martin, Heinze, Anja, Horn, Susanne, Klöckner, Chiara, Körber, Gudrun, Hentschel, Julia, Kalita, Malgorzata, Krey, Ilona, Nastainczyk-Wulf, Marina, Platzer, Konrad, Rebstock, Johannes, Popp, Bernt, Stiller, Mathias, Teichmann, Anne-Christin, Jamra, Rami Abou, Lemke, Johannes R.
Publicado 2021

A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia

por Helbig, Katherine L., Hedrich, Ulrike B.S., Shinde, Deepali N., Krey, Ilona, Teichmann, Anne‐Christin, Hentschel, Julia, Schubert, Julian, Chamberlin, Adam C., Huether, Robert, Lu, Hsiao‐Mei, Alcaraz, Wendy A., Tang, Sha, Jungbluth, Chelsy, Dugan, Sarah L., Vainionpää, Leena, Karle, Kathrin N., Synofzik, Matthis, Schöls, Ludger, Schüle, Rebecca, Lehesjoki, Anna‐Elina, Helbig, Ingo, Lerche, Holger, Lemke, Johannes R.
Publicado 2016