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

Anti-seizure gene therapy for focal cortical dysplasia

针对局灶性皮质发育不良的抗癫痫基因疗法

Almacellas Barbanoj, Amanda; Graham, Robert T; Maffei, Benito; Carpenter, Jenna C; Leite, Marco; Hoke, Justin; Hardjo, Felisia; Scott-Solache, James; Chimonides, Christos; Schorge, Stephanie; Kullmann, Dimitri M; Magloire, Vincent; Lignani, Gabriele

Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes

离子通道的保守模式与变异致病性和临床表型相关

Brünger, Tobias; Pérez-Palma, Eduardo; Montanucci, Ludovica; Nothnagel, Michael; Møller, Rikke S; Schorge, Stephanie; Zuberi, Sameer; Symonds, Joseph; Lemke, Johannes R; Brunklaus, Andreas; Traynelis, Stephen F; May, Patrick; Lal, Dennis

On-demand cell-autonomous gene therapy for brain circuit disorders

针对脑回路疾病的按需细胞自主基因疗法

Qiu, Yichen; O'Neill, Nathanael; Maffei, Benito; Zourray, Clara; Almacellas-Barbanoj, Amanda; Carpenter, Jenna C; Jones, Steffan P; Leite, Marco; Turner, Thomas J; Moreira, Francisco C; Snowball, Albert; Shekh-Ahmad, Tawfeeq; Magloire, Vincent; Barral, Serena; Kurian, Manju A; Walker, Matthew C; Schorge, Stephanie; Kullmann, Dimitri M; Lignani, Gabriele

Translating genetic and functional data into clinical practice: a series of 223 families with myotonia

将遗传和功能数据转化为临床实践:223个肌强直症家族的系列研究

Suetterlin, Karen; Matthews, Emma; Sud, Richa; McCall, Samuel; Fialho, Doreen; Burge, James; Jayaseelan, Dipa; Haworth, Andrea; Sweeney, Mary G; Kullmann, Dimitri M; Schorge, Stephanie; Hanna, Michael G; Männikkö, Roope

Gene variant effects across sodium channelopathies predict function and guide precision therapy

钠通道病中基因变异的影响可预测功能并指导精准治疗

Brunklaus, Andreas; Feng, Tony; Brünger, Tobias; Perez-Palma, Eduardo; Heyne, Henrike; Matthews, Emma; Semsarian, Christopher; Symonds, Joseph D; Zuberi, Sameer M; Lal, Dennis; Schorge, Stephanie

Recent advances in gene therapy for neurodevelopmental disorders with epilepsy

神经发育障碍伴癫痫的基因治疗最新进展

Turner, Thomas J; Zourray, Clara; Schorge, Stephanie; Lignani, Gabriele

BICS01 Mediates Reversible Anti-seizure Effects in Brain Slice Models of Epilepsy

BICS01在癫痫脑片模型中介导可逆性抗癫痫作用

Morris, Gareth; Heiland, Mona; Lamottke, Kai; Guan, Haifeng; Hill, Thomas D M; Zhou, Yijun; Zhu, Qianjin; Schorge, Stephanie; Henshall, David C

Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation

一名患有肌强直的患者,其S4精氨酸残基发生突变,并伴有低钾性周期性麻痹和同义CLCN1突变。

Thor, Michael G; Vivekanandam, Vinojini; Sampedro-Castañeda, Marisol; Tan, S Veronica; Suetterlin, Karen; Sud, Richa; Durran, Siobhan; Schorge, Stephanie; Kullmann, Dimitri M; Hanna, Michael G; Matthews, Emma; Männikkö, Roope

Spider toxin inhibits gating pore currents underlying periodic paralysis

蜘蛛毒素抑制周期性麻痹症的门控孔电流

Männikkö, Roope; Shenkarev, Zakhar O; Thor, Michael G; Berkut, Antonina A; Myshkin, Mikhail Yu; Paramonov, Alexander S; Kulbatskii, Dmitrii S; Kuzmin, Dmitry A; Sampedro Castañeda, Marisol; King, Louise; Wilson, Emma R; Lyukmanova, Ekaterina N; Kirpichnikov, Mikhail P; Schorge, Stephanie; Bosmans, Frank; Hanna, Michael G; Kullmann, Dimitri M; Vassilevski, Alexander A