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

Genetic risk factor identification for common epilepsies guided by integrative omics data analysis

基于整合组学数据分析的常见癫痫遗传风险因素识别

Mushunuri, Ashwini; Adesoji, Oluyomi; Krause, Roland; May, Patrick; Lerche, Holger; Becker, Albert; Grimm, Daniela; Nothnagel, Michael; Schulz, Herbert

Antineuronal antibody titres in autoimmune encephalitis: clinical implications for diagnosis and long-term immunotherapy

自身免疫性脑炎中抗神经元抗体滴度:对诊断和长期免疫治疗的临床意义

Schwab, Hanna; Kegele, Josua; Kowarik, Markus C; Lerche, Holger; Lauxmann, Stephan

Comprehensive evaluation of EEG spatial sampling, head modelling and parcellation effects on network alterations in idiopathic generalized epilepsy

综合评估脑电图空间采样、头部建模和分区对特发性全身性癫痫网络改变的影响

Stier, Christina; Loose, Markus; Loew, Carmen; Segovia-Oropeza, Marysol; Baek, Sangyeob; Lerche, Holger; Focke, Niels K N

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

Gene-replacement therapy in neurodevelopmental disorders: progress and challenges

基因替代疗法在神经发育障碍中的应用:进展与挑战

Lerche, Holger; Hedrich, Ulrike Bs; Wuttke, Thomas V

Genome-wide association meta-analyses of drug-resistant epilepsy

全基因组关联荟萃分析在耐药性癫痫中的应用

Leu, Costin; Avbersek, Andreja; Stevelink, Remi; Custodio, Helena Martins; Chen, Siwei; Speed, Doug; Bennett, Caitlin A; Jonsson, Lina; Unnsteinsdóttir, Unnur; Jorgensen, Andrea L; Cavalleri, Gianpiero L; Delanty, Norman; Craig, John J; Depondt, Chantal; Johnson, Michael R; Koeleman, Bobby P C; Hassanin, Emadeldin; Omidvar, Maryam Erfanian; Krause, Roland; Lerche, Holger; Marson, Anthony G; O'Brien, Terence J; Sander, Josemir W; Sills, Graeme J; Striano, Pasquale; Zara, Federico; Stefansson, Hreinn; Stefansson, Kari; May, Patrick; Neale, Benjamin M; Lal, Dennis; Berkovic, Samuel F; Sisodiya, Sanjay M

Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy.

双等位基因 KICS2 突变会损害 KICSTOR 复合物介导的 mTORC1 调节,导致智力障碍和癫痫

Buchert Rebecca, Burkhalter Martin D, Huridou Chrisovalantou, Sofan Linda, Roser Timo, Cremer Kirsten, Alvi Javeria Raza, Efthymiou Stephanie, Froukh Tawfiq, Gulieva Sughra, Guliyeva Ulviyya, Hamdallah Moath, Holder-Espinasse Muriel, Kaiyrzhanov Rauan, Klingler Doreen, Koko Mahmoud, Matthies Lars, Park Joohyun, Sturm Marc, Velic Ana, Spranger Stephanie, Sultan Tipu, Engels Hartmut, Lerche Holger, Houlden Henry, Pagnamenta Alistair T, Borggraefe Ingo, Weber Yvonne, Bonnen Penelope E, Maroofian Reza, Riess Olaf, Weber Jonasz J, Philipp Melanie, Haack Tobias B

Recurrent c.-11C>T change located upstream of the normal ATG initiation codon of ANKH causes self-limited familial infantile epilepsy

位于ANKH正常ATG起始密码子上游的复发性c.-11C>T改变会导致自限性家族性婴儿癫痫。

Kegele, Josua; Juenger, Hendrik; Frantzmann, Harald; Gläser, Dieter; Sturm, Marc; Lerche, Holger; Haack, Tobias B; Bader, Ingrid

Support vector machines predict postoperative memory outcomes in temporal lobe epilepsies

支持向量机预测颞叶癫痫术后记忆结果

Ethofer, Silke; Erb, Michael; Milian, Monika; Rona, Sabine; Lerche, Holger; Honegger, Jürgen; Ethofer, Thomas

To the editors: SCN1A gain-of-function effects in Dravet syndrome: Insights into clinical phenotypes and therapeutic implications

致编辑:SCN1A 功能获得性突变在 Dravet 综合征中的作用:对临床表型和治疗意义的深入探讨

Müller-Wöhrstein, Peter; Lerche, Holger; Boßelmann, Christian M