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

Digital-Tier Strategy Improves Newborn Screening for Glutaric Aciduria Type 1

数字化分层策略改进了1型戊二酸尿症新生儿筛查

Zaunseder, Elaine; Teinert, Julian; Boy, Nikolas; Garbade, Sven F; Haupt, Saskia; Feyh, Patrik; Hoffmann, Georg F; Kölker, Stefan; Mütze, Ulrike; Heuveline, Vincent

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

明确衔接蛋白复合物 4 相关遗传性痉挛性截瘫的临床、分子和影像学特征

Ebrahimi-Fakhari, Darius; Teinert, Julian; Behne, Robert; Wimmer, Miriam; D'Amore, Angelica; Eberhardt, Kathrin; Brechmann, Barbara; Ziegler, Marvin; Jensen, Dana M; Nagabhyrava, Premsai; Geisel, Gregory; Carmody, Erin; Shamshad, Uzma; Dies, Kira A; Yuskaitis, Christopher J; Salussolia, Catherine L; Ebrahimi-Fakhari, Daniel; Pearson, Toni S; Saffari, Afshin; Ziegler, Andreas; Kölker, Stefan; Volkmann, Jens; Wiesener, Antje; Bearden, David R; Lakhani, Shenela; Segal, Devorah; Udwadia-Hegde, Anaita; Martinuzzi, Andrea; Hirst, Jennifer; Perlman, Seth; Takiyama, Yoshihisa; Xiromerisiou, Georgia; Vill, Katharina; Walker, William O; Shukla, Anju; Dubey Gupta, Rachana; Dahl, Niklas; Aksoy, Ayse; Verhelst, Helene; Delgado, Mauricio R; Kremlikova Pourova, Radka; Sadek, Abdelrahim A; Elkhateeb, Nour M; Blumkin, Lubov; Brea-Fernández, Alejandro J; Dacruz-Álvarez, David; Smol, Thomas; Ghoumid, Jamal; Miguel, Diego; Heine, Constanze; Schlump, Jan-Ulrich; Langen, Hendrik; Baets, Jonathan; Bulk, Saskia; Darvish, Hossein; Bakhtiari, Somayeh; Kruer, Michael C; Lim-Melia, Elizabeth; Aydinli, Nur; Alanay, Yasemin; El-Rashidy, Omnia; Nampoothiri, Sheela; Patel, Chirag; Beetz, Christian; Bauer, Peter; Yoon, Grace; Guillot, Mireille; Miller, Steven P; Bourinaris, Thomas; Houlden, Henry; Robelin, Laura; Anheim, Mathieu; Alamri, Abdullah S; Mahmoud, Adel A H; Inaloo, Soroor; Habibzadeh, Parham; Faghihi, Mohammad Ali; Jansen, Anna C; Brock, Stefanie; Roubertie, Agathe; Darras, Basil T; Agrawal, Pankaj B; Santorelli, Filippo M; Gleeson, Joseph; Zaki, Maha S; Sheikh, Sarah I; Bennett, James T; Sahin, Mustafa

Tick-borne encephalitis virus (TBEV) prevalence in field-collected ticks (Ixodes ricinus) and phylogenetic, structural and virulence analysis in a TBE high-risk endemic area in southwestern Germany

德国西南部蜱传脑炎高风险流行区野外采集的蜱(蓖麻硬蜱)中蜱传脑炎病毒(TBEV)的流行情况及其系统发育、结构和毒力分析

Ott, Daniela; Ulrich, Kristina; Ginsbach, Philip; Öhme, Rainer; Bock-Hensley, Oswinde; Falk, Ulrich; Teinert, Martina; Lenhard, Thorsten

Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking

衔接蛋白复合物 4 缺乏症:由蛋白质运输缺陷引起的儿童期遗传性痉挛性截瘫的典型例子

Robert Behne, Julian Teinert, Miriam Wimmer, Angelica D'Amore, Alexandra K Davies, Joseph M Scarrott, Kathrin Eberhardt, Barbara Brechmann, Ivy Pin-Fang Chen, Elizabeth D Buttermore, Lee Barrett, Sean Dwyer, Teresa Chen, Jennifer Hirst, Antje Wiesener, Devorah Segal, Andrea Martinuzzi, Sofia T Duart

Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4B1-associated hereditary spastic paraplegia (SPG47)

来自三个 AP4B1 相关遗传性痉挛性截瘫 (SPG47) 家族的六种人类诱导性多能干细胞系 (iPSC) 的生成和表征

Julian Teinert, Robert Behne, Angelica D'Amore, Miriam Wimmer, Sean Dwyer, Teresa Chen, Elizabeth D Buttermore, Ivy Pin-Fang Chen, Mustafa Sahin, Darius Ebrahimi-Fakhari