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

GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy

GRIN2A基因的无义突变会增加早发性精神分裂症和其他精神障碍的风险,并有可能实现精准治疗。

Lemke, Johannes R; Eoli, Andrea; Krey, Ilona; Popp, Bernt; Strehlow, Vincent; Wittekind, Dirk A; Vuorinen, Anna-Leena; Aldhalaan, Hesham M; Baer, Sarah; de Saint Martin, Anne; Hammer, Trine B; Herman, Isabella; Hornemann, Frauke; Ingebrigtsen, Trine; Lederer, Damien; Lesca, Gaetan; Marafie, Dana; Mathot, Mikael; Rosenfeld, Jill A; Møller, Rikke S; Schelhaas, Helenius J; Stillman, Chelsey; Orsini, Alessandro; Patel, Anup D; Piard, Juliette; Veggiotti, Pierangelo; Vlaskamp, Danique R M; Weckhuysen, Sarah; Traynelis, Stephen F; Benke, Tim A; Heyne, Henrike O; Syrbe, Steffen

Correction: GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy

更正:GRIN2A 基因缺失变异会增加早发性精神分裂症和其他精神障碍的风险,并可能使精准治疗成为可能。

Lemke, Johannes R; Eoli, Andrea; Krey, Ilona; Popp, Bernt; Strehlow, Vincent; Wittekind, Dirk A; Vuorinen, Anna-Leena; Aldhalaan, Hesham M; Baer, Sarah; de Saint Martin, Anne; Hammer, Trine B; Herman, Isabella; Hornemann, Frauke; Ingebrigtsen, Trine; Lederer, Damien; Lesca, Gaetan; Marafie, Dana; Mathot, Mikael; Rosenfeld, Jill A; Møller, Rikke S; Schelhaas, Helenius J; Stillman, Chelsey; Orsini, Alessandro; Patel, Anup D; Piard, Juliette; Veggiotti, Pierangelo; Vlaskamp, Danique R M; Weckhuysen, Sarah; Traynelis, Stephen F; Benke, Tim A; Heyne, Henrike O; Syrbe, Steffen

Cortical Visual Impairment Across a Range of Neurodevelopmental Disorders: Clinical Characterization, Diagnostic Tool Evaluation, and Association with Developmental Outcomes

皮质性视觉障碍在多种神经发育障碍中的临床特征、诊断工具评估及与发育结果的关联

Abbott, Megan; Angione, Katie; Stringfellow, Megan; Malik, Kristina; Saenz, Margarita; McCourt, Emily; Silveira, Lori; Miele, Andrea; Benke, Tim A; Demarest, Scott

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification

基因门户:将临床、功能和结构证据整合到罕见病变异分类中的框架

Brünger, Tobias; Krey, Ilona; Kim, Suyeon; Klöckner, Chiara; Myers, Scott J; Johannesen, Katrine M; Stefanski, Arthur; Taylor, Gary; Perez-Palma, Eduardo; Macnee, Marie; Schorge, Stephanie; Dahl, Rebekka S; Yuan, Hongjie; Perszyk, Riley E; Kim, Sukhan; Bajaj, Sunanjay; Helbig, Ingo; Pan, Jen Q; Farrant, Mark; Wollmuth, Lonnie; Wyllie, David J A; Kurganov, Erkin; Baez, David; Zuberi, Sameer; Boßelmann, Christian M; Lerche, Holger; Mantegazza, Massimo; Cestèle, Sandrine; May, Patrick; Ivaniuk, Alina; Meskis, Mary Anne; Hood, Veronica; Schust, Leah; Goodspeed, Kimberly; Kang, Jing-Qiong; Freed, Amber; Gati, Cornelius; Montanucci, Ludovica; Wuster, Arthur; Trinidad, Marena; Froelich, Steven; Deng, Alexander T; Serrano, Ángel Aledo; Borovikov, Artem; Sharkov, Artem; Bouman, Arjan; Hajianpour, M J; Pal, Deb K; Danvoye, Leslie; Lederer, Damien; Balci, Tugce R; Hagebeuk, Eveline E O; Heidlebaugh, Alexis; Oetjens, Kathryn; Hoffman, Trevor L; Striano, Pasquale; Williams, Sarah Drewes; van Engelen, Kalene; Howell, Katherine B; Khoury, Jean; Benke, Tim A; Strehlow, Vincent; Platzer, Konrad; Ramsey, Amy; Manaster, Lisa; Malepati, Sunitha; Fox, Pangkong; Noebels, Jeffrey; Chung, Wendy; Poduri, Annapurna; Stripe, Laina Lusk; Ruggiero, Sarah M; Cohen, Stacey; Smith, Lacey; Boesch, Sylvia; Wilmarth, Olivia; Prentice, Anna Jenne; Cha, Esther; Budnik, Nikita; Hommersom, Marina P; Kramer, Audra; Vanoye, Carlos G; Zhang, Guo-Qiang; Nothnagel, Michael; Palotie, Aarno; Daly, Mark J; George, Alfred L Jr; Zarate, Yuri A; Brunklaus, Andreas; Traynelis, Stephen F; Møller, Rikke S; Lemke, Johannes R; Lal, Dennis

Early life seizures chronically disrupt L-type voltage gated calcium channel regulation of mGluR mediated long term depression via interactions with protein phosphatase 2A.

早期癫痫发作会通过与蛋白磷酸酶 2A 的相互作用,长期扰乱 L 型电压门控钙通道对 mGluR 介导的长期抑制的调节

Bernard Paul B, Castano Anna M, Buonarati Olivia R, Camp Chad R, Hell Johannes W, Benke Tim A

Selective enhancement of the interneuron network and gamma-band power via GluN2C/GluN2D NMDA receptor potentiation

通过GluN2C/GluN2D NMDA受体增强选择性增强中间神经元网络和γ波段功率

Camp, Chad R; Banke, Tue G; Xing, Hao; Yu, Kuai; Perszyk, Riley E; Epplin, Matthew P; Akins, Nicholas S; Zhang, Jing; Benke, Tim A; Yuan, Hongjie; Liotta, Dennis C; Traynelis, Stephen F

A randomized, placebo-controlled, cross-over trial of ketamine in Rett syndrome

一项关于氯胺酮治疗雷特综合征的随机、安慰剂对照、交叉试验

Campbell, Kathleen; Neul, Jeffrey L; Lieberman, David N; Berry-Kravis, Elizabeth; Benke, Tim A; Fu, Cary; Percy, Alan; Suter, Bernhard; Morris, David; Carpenter, Randall L; Marsh, Eric D; von Hehn, Jana

Development and initial validation of the Communication Inventory Disability - Observer Reported (CID-OR): a measure of communication in CDKL5 deficiency disorder

沟通障碍评估量表-观察者报告版 (CID-OR) 的开发和初步验证:一种用于评估 CDKL5 缺陷症患者沟通能力的指标

Downs, Jenny; Keeley, Jessica; Jacoby, Peter; Benson-Goldberg, Sofia; Pillar, Sarah; Miele, Andrea; Leonard, Helen; Saldaris, Jacinta; Marsh, Eric D; Benke, Tim A; Demarest, Scott T

Beyond Seizures as an Outcome Measure: A Global Severity Scoring System for CDKL5 Deficiency Disorder

超越癫痫发作作为结果指标:CDKL5 缺乏症的全球严重程度评分系统

Jacoby, Peter; Marsh, Eric D; Demarest, Scott; Saldaris, Jacinta M; Leonard, Helen; Olson, Heather E; Saby, Joni N; Pestana-Knight, Elia; Rajaraman, Rajsekar; Price, Dana; Weisenberg, Judith; Suter, Bernhard; Downs, Jenny; Benke, Tim A

Parent/caregiver perspectives of meaningful improvement in functional domains for people with CDKL5 deficiency disorder: a mixed-methods study

父母/照护者对 CDKL5 缺乏症患者功能领域显著改善的看法:一项混合方法研究

Keeley, Jessica; Skoda, Zoe; Utley, Karen; Marsh, Eric D; Conecker, Gabrielle A; Hecker, JayEtta; Ludwig, Natasha N; Leonard, Helen; Saldaris, Jacinta; Jacoby, Peter; Pincus, Sharon; Benke, Tim A; Demarest, Scott T; Downs, Jenny