Homozygous STXBP1 variant causes encephalopathy and gain-of-function in synaptic transmission

por Lammertse, Hanna C A, van Berkel, Annemiek A, Iacomino, Michele, Toonen, Ruud F, Striano, Pasquale, Gambardella, Antonio, Verhage, Matthijs, Zara, Federico
Publicado 2020

Dysregulated Prefrontal Cortex Inhibition in Prepubescent and Adolescent Fragile X Mouse Model

por Kramvis, Ioannis, van Westen, Rhodé, Lammertse, Hanna C. A., Riga, Danai, Heistek, Tim S., Loebel, Alex, Spijker, Sabine, Mansvelder, Huibert D., Meredith, Rhiannon M.
Publicado 2020

Power and optimal study design in iPSC-based brain disease modelling

por Brunner, Jessie W., Lammertse, Hanna C. A., van Berkel, Annemiek A., Koopmans, Frank, Li, Ka Wan, Smit, August B., Toonen, Ruud F., Verhage, Matthijs, van der Sluis, Sophie
Publicado 2022

Dysregulation of Synaptic and Developmental Transcriptomic/Proteomic Profiles upon Depletion of MUNC18-1

por Van Berkel, Annemiek A., Koopmans, Frank, Gonzalez-Lozano, Miguel Angel, Lammertse, Hanna C. A., Feringa, Femke, Bryois, Julien, Sullivan, Patrick F., Smit, August B., Toonen, Ruud F., Verhage, Matthijs
Publicado 2022

STXBP1 Syndrome Is Characterized by Inhibition-Dominated Dynamics of Resting-State EEG

por Houtman, Simon J., Lammertse, Hanna C. A., van Berkel, Annemiek A., Balagura, Ganna, Gardella, Elena, Ramautar, Jennifer R., Reale, Chiara, Møller, Rikke S., Zara, Federico, Striano, Pasquale, Misra-Isrie, Mala, van Haelst, Mieke M., Engelen, Marc, van Zuijen, Titia L., Mansvelder, Huibert D., Verhage, Matthijs, Bruining, Hilgo, Linkenkaer-Hansen, Klaus
Publicado 2021