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

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

Absence of GluN2A in hippocampal CA1 neurons leads to altered dendritic structure and reduced frequency of miniature excitatory synaptic events.

海马 CA1 神经元中 GluN2A 的缺失会导致树突结构改变和微型兴奋性突触事件频率降低

Yasmin Farhana, Marwick Katie F M, Hunter Daniel W, Nawaz Sarfaraz, Marshall Grant F, Booker Sam A, Hardingham Giles E, Kind Peter C, Wyllie David J A

Imbalance of flight-freeze responses and their cellular correlates in the Nlgn3(-/y) rat model of autism

Nlgn3(-/y)自闭症大鼠模型中逃跑-僵直反应失衡及其细胞相关性

Anstey, Natasha J; Kapgal, Vijayakumar; Tiwari, Shashank; Watson, Thomas C; Toft, Anna K H; Dando, Owen R; Inkpen, Felicity H; Baxter, Paul S; Kozić, Zrinko; Jackson, Adam D; He, Xin; Nawaz, Mohammad Sarfaraz; Kayenaat, Aiman; Bhattacharya, Aditi; Wyllie, David J A; Chattarji, Sumantra; Wood, Emma R; Hardt, Oliver; Kind, Peter C

Altered network properties in C9ORF72 repeat expansion cortical neurons are due to synaptic dysfunction

C9ORF72重复扩增皮层神经元网络特性的改变是由于突触功能障碍所致。

Perkins, Emma M; Burr, Karen; Banerjee, Poulomi; Mehta, Arpan R; Dando, Owen; Selvaraj, Bhuvaneish T; Suminaite, Daumante; Nanda, Jyoti; Henstridge, Christopher M; Gillingwater, Thomas H; Hardingham, Giles E; Wyllie, David J A; Chandran, Siddharthan; Livesey, Matthew R

Contribution of NMDA Receptors to Synaptic Function in Rat Hippocampal Interneurons

NMDA受体对大鼠海马中间神经元突触功能的贡献

Booker, Sam A; Sumera, Anna; Kind, Peter C; Wyllie, David J A

Cellular and synaptic phenotypes lead to disrupted information processing in Fmr1-KO mouse layer 4 barrel cortex

Fmr1-KO小鼠第4层桶状皮层细胞和突触表型导致信息处理紊乱

Domanski, Aleksander P F; Booker, Sam A; Wyllie, David J A; Isaac, John T R; Kind, Peter C

Altered dendritic spine function and integration in a mouse model of fragile X syndrome

脆性X综合征小鼠模型中树突棘功能和整合的改变

Booker, Sam A; Domanski, Aleksander P F; Dando, Owen R; Jackson, Adam D; Isaac, John T R; Hardingham, Giles E; Wyllie, David J A; Kind, Peter C

GRIN2A-related disorders: genotype and functional consequence predict phenotype

GRIN2A相关疾病:基因型和功能后果预测表型

Strehlow, Vincent; Heyne, Henrike O; Vlaskamp, Danique R M; Marwick, Katie F M; Rudolf, Gabrielle; de Bellescize, Julitta; Biskup, Saskia; Brilstra, Eva H; Brouwer, Oebele F; Callenbach, Petra M C; Hentschel, Julia; Hirsch, Edouard; Kind, Peter C; Mignot, Cyril; Platzer, Konrad; Rump, Patrick; Skehel, Paul A; Wyllie, David J A; Hardingham, Giles E; van Ravenswaaij-Arts, Conny M A; Lesca, Gaetan; Lemke, Johannes R

Modelling the details: integrating structure with function

细节建模:将结构与功能相结合

Wyllie, David J A

Loss of cerebellar glutamate transporters EAAT4 and GLAST differentially affects the spontaneous firing pattern and survival of Purkinje cells

小脑谷氨酸转运蛋白EAAT4和GLAST的缺失对浦肯野细胞的自发放电模式和存活率产生不同的影响。

Perkins, Emma M; Clarkson, Yvonne L; Suminaite, Daumante; Lyndon, Alastair R; Tanaka, Kohichi; Rothstein, Jeffrey D; Skehel, Paul A; Wyllie, David J A; Jackson, Mandy