Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease – a new type of neuronal ceroid lipofuscinosis (CLN15)?

by Stefanie Beck-Wödl, Klaus Harzer, Marc Sturm, Rebecca Buchert, Olaf Rieß, Hans-Dieter Mennel, Elisabeth Latta, Axel Pagenstecher, Ursula Keber
Published 2018-12-01

Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy.

by Yoshiko Murakami, Hasan Tawamie, Yusuke Maeda, Christian Büttner, Rebecca Buchert, Farah Radwan, Stefanie Schaffer, Heinrich Sticht, Michael Aigner, André Reis, Taroh Kinoshita, Rami Abou Jamra
Published 2014-05-01

AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability

by Aline Brechet, Rebecca Buchert, Jochen Schwenk, Sami Boudkkazi, Gerd Zolles, Karine Siquier-Pernet, Irene Schaber, Wolfgang Bildl, Abdelkrim Saadi, Christine Bole-Feysot, Patrick Nitschke, Andre Reis, Heinrich Sticht, Nouriya Al-Sanna’a, Arndt Rolfs, Akos Kulik, Uwe Schulte, Laurence Colleaux, Rami Abou Jamra, Bernd Fakler
Published 2017-07-01