日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Deregulated ion channels contribute to RHOBTB2-associated developmental and epileptic encephalopathy

离子通道失调导致RHOBTB2相关发育性和癫痫性脑病

Langhammer, Franziska; Gregor, Anne; Ntamati, Niels R; Ekici, Arif B; Winner, Beate; Nevian, Thomas; Zweier, Christiane

Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons

致病性 SCN2A 变异导致患者来源的神经元早期功能障碍

R Asadollahi, I Delvendahl, R Muff, G Tan, D G Rodríguez, S Turan, M Russo, B Oneda, P Joset, P Boonsawat, R Masood, M Mocera, I Ivanovski, A Baumer, R Bachmann-Gagescu, R Schlapbach, H Rehrauer, K Steindl, A Begemann, A Reis, J Winkler, B Winner, M Müller, A Rauch

Reduced synaptic activity and dysregulated extracellular matrix pathways in midbrain neurons from Parkinson's disease patients

帕金森病患者中脑神经元突触活动降低和细胞外基质通路失调

Stern, Shani; Lau, Shong; Manole, Andreea; Rosh, Idan; Percia, Menachem Mendel; Ben Ezer, Ran; Shokhirev, Maxim N; Qiu, Fan; Schafer, Simon; Mansour, Abed AlFatah; Mangan, Kile P; Stern, Tchelet; Ofer, Polina; Stern, Yam; Diniz Mendes, Ana Paula; Djamus, Jose; Moore, Lynne Randolph; Nayak, Ritu; Laufer, Sapir Havusha; Aicher, Aidan; Rhee, Amanda; Wong, Thomas L; Nguyen, Thao; Linker, Sara B; Winner, Beate; Freitas, Beatriz C; Jones, Eugenia; Sagi, Irit; Bardy, Cedric; Brice, Alexis; Winkler, Juergen; Marchetto, Maria C; Gage, Fred H

EFhd2/Swiprosin-1 is a common genetic determinator for sensation-seeking/low anxiety and alcohol addiction

EFhd2/Swiprosin-1 是导致寻求刺激/低焦虑和酒精成瘾的常见遗传决定因素

D Mielenz, M Reichel, T Jia, E B Quinlan, T Stöckl, M Mettang, D Zilske, E Kirmizi-Alsan, P Schönberger, M Praetner, S E Huber, D Amato, M Schwarz, P Purohit, S Brachs, J Spranger, A Hess, C Büttner, A B Ekici, F Perez-Branguli, B Winner, V Rauschenberger, T Banaschewski, A L W Bokde, C Büchel, P J