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

Tunable Photonic Paints via Block Copolymer Self-Assembly and Refractive Index Engineering

通过嵌段共聚物自组装和折射率工程实现可调谐光子涂料

Bertucci, Simone; Schobinger, Remi; Mummolo, Liviana; Schwarz, Niklas; Lova, Paola; Weder, Christoph; Comoretto, Davide; Steiner, Ullrich; Di Stasio, Francesco; Dodero, Andrea

Morphotype-specific calcium signaling in human microglia.

人类小胶质细胞中形态特异性钙信号传导

Nevelchuk Sofia, Brawek Bianca, Schwarz Niklas, Valiente-Gabioud Ariel, Wuttke Thomas V, Kovalchuk Yury, Koch Henner, Höllig Anke, Steiner Frederik, Figarella Katherine, Griesbeck Oliver, Garaschuk Olga

KCNC2 variants of uncertain significance are also associated to various forms of epilepsy

意义不明的KCNC2变异也与多种类型的癫痫有关。

Seiffert, Simone; Pendziwiat, Manuela; Hedrich, Ulrike B S; Helbig, Ingo; Weber, Yvonne; Schwarz, Niklas

Modulating effects of FGF12 variants on Na(V)1.2 and Na(V)1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series

FGF12 变体对 Na(V)1.2 和 Na(V)1.6 的调节作用与发育性和癫痫性脑病以及自闭症谱系障碍相关:病例系列研究

Seiffert, Simone; Pendziwiat, Manuela; Bierhals, Tatjana; Goel, Himanshu; Schwarz, Niklas; van der Ven, Amelie; Boßelmann, Christian Malte; Lemke, Johannes; Syrbe, Steffen; Willemsen, Marjolein Hanna; Hedrich, Ulrike Barbara Stefanie; Helbig, Ingo; Weber, Yvonne

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants

携带KCNC2致病变异的癫痫患者的表型、遗传和功能特征谱

Schwarz, Niklas; Seiffert, Simone; Pendziwiat, Manuela; Rademacher, Annika Verena; Brünger, Tobias; Hedrich, Ulrike B S; Augustijn, Paul B; Baier, Hartmut; Bayat, Allan; Bisulli, Francesca; Buono, Russell J; Bruria, Ben Zeev; Doyle, Michael G; Guerrini, Renzo; Heimer, Gali; Iacomino, Michele; Kearney, Hugh; Klein, Karl Martin; Kousiappa, Ioanna; Kunz, Wolfram S; Lerche, Holger; Licchetta, Laura; Lohmann, Ebba; Minardi, Raffaella; McDonald, Marie; Montgomery, Sarah; Mulahasanovic, Lejla; Oegema, Renske; Ortal, Barel; Papacostas, Savvas S; Ragona, Francesca; Granata, Tiziana; Reif, Phillip S; Rosenow, Felix; Rothschild, Annick; Scudieri, Paolo; Striano, Pasquale; Tinuper, Paolo; Tanteles, George A; Vetro, Annalisa; Zahnert, Felix; Goldberg, Ethan M; Zara, Federico; Lal, Dennis; May, Patrick; Muhle, Hiltrud; Helbig, Ingo; Weber, Yvonne

Therapeutic Potential of Sodium Channel Blockers as a Targeted Therapy Approach in KCNA1-Associated Episodic Ataxia and a Comprehensive Review of the Literature

钠通道阻滞剂作为KCNA1相关发作性共济失调靶向治疗方法的治疗潜力及文献综述

Lauxmann, Stephan; Sonnenberg, Lukas; Koch, Nils A; Bosselmann, Christian; Winter, Natalie; Schwarz, Niklas; Wuttke, Thomas V; Hedrich, Ulrike B S; Liu, Yuanyuan; Lerche, Holger; Benda, Jan; Kegele, Josua

In Vitro Differentiated Human Stem Cell-Derived Neurons Reproduce Synaptic Synchronicity Arising during Neurodevelopment

体外分化的人类干细胞衍生神经元能够重现神经发育过程中产生的突触同步性

Rosa, Filip; Dhingra, Ashutosh; Uysal, Betül; Mendis, G Dulini C; Loeffler, Heidi; Elsen, Gina; Mueller, Stephan; Schwarz, Niklas; Castillo-Lizardo, Melissa; Cuddy, Claire; Becker, Felicitas; Heutink, Peter; Reid, Christopher A; Petrou, Steven; Lerche, Holger; Maljevic, Snezana

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

CACNA1E基因的新生致病变异导致发育性和癫痫性脑病,伴有挛缩、巨头畸形和运动障碍

Helbig, Katherine L; Lauerer, Robert J; Bahr, Jacqueline C; Souza, Ivana A; Myers, Candace T; Uysal, Betül; Schwarz, Niklas; Gandini, Maria A; Huang, Sun; Keren, Boris; Mignot, Cyril; Afenjar, Alexandra; Billette de Villemeur, Thierry; Héron, Delphine; Nava, Caroline; Valence, Stéphanie; Buratti, Julien; Fagerberg, Christina R; Soerensen, Kristina P; Kibaek, Maria; Kamsteeg, Erik-Jan; Koolen, David A; Gunning, Boudewijn; Schelhaas, H Jurgen; Kruer, Michael C; Fox, Jordana; Bakhtiari, Somayeh; Jarrar, Randa; Padilla-Lopez, Sergio; Lindstrom, Kristin; Jin, Sheng Chih; Zeng, Xue; Bilguvar, Kaya; Papavasileiou, Antigone; Xing, Qinghe; Zhu, Changlian; Boysen, Katja; Vairo, Filippo; Lanpher, Brendan C; Klee, Eric W; Tillema, Jan-Mendelt; Payne, Eric T; Cousin, Margot A; Kruisselbrink, Teresa M; Wick, Myra J; Baker, Joshua; Haan, Eric; Smith, Nicholas; Sadeghpour, Azita; Davis, Erica E; Katsanis, Nicholas; Corbett, Mark A; MacLennan, Alastair H; Gecz, Jozef; Biskup, Saskia; Goldmann, Eva; Rodan, Lance H; Kichula, Elizabeth; Segal, Eric; Jackson, Kelly E; Asamoah, Alexander; Dimmock, David; McCarrier, Julie; Botto, Lorenzo D; Filloux, Francis; Tvrdik, Tatiana; Cascino, Gregory D; Klingerman, Sherry; Neumann, Catherine; Wang, Raymond; Jacobsen, Jessie C; Nolan, Melinda A; Snell, Russell G; Lehnert, Klaus; Sadleir, Lynette G; Anderlid, Britt-Marie; Kvarnung, Malin; Guerrini, Renzo; Friez, Michael J; Lyons, Michael J; Leonhard, Jennifer; Kringlen, Gabriel; Casas, Kari; El Achkar, Christelle M; Smith, Lacey A; Rotenberg, Alexander; Poduri, Annapurna; Sanchis-Juan, Alba; Carss, Keren J; Rankin, Julia; Zeman, Adam; Raymond, F Lucy; Blyth, Moira; Kerr, Bronwyn; Ruiz, Karla; Urquhart, Jill; Hughes, Imelda; Banka, Siddharth; Hedrich, Ulrike B S; Scheffer, Ingrid E; Helbig, Ingo; Zamponi, Gerald W; Lerche, Holger; Mefford, Heather C

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

KMT2E基因的杂合变异会导致一系列神经发育障碍和癫痫。

O'Donnell-Luria, Anne H; Pais, Lynn S; Faundes, Víctor; Wood, Jordan C; Sveden, Abigail; Luria, Victor; Abou Jamra, Rami; Accogli, Andrea; Amburgey, Kimberly; Anderlid, Britt Marie; Azzarello-Burri, Silvia; Basinger, Alice A; Bianchini, Claudia; Bird, Lynne M; Buchert, Rebecca; Carre, Wilfrid; Ceulemans, Sophia; Charles, Perrine; Cox, Helen; Culliton, Lisa; Currò, Aurora; Demurger, Florence; Dowling, James J; Duban-Bedu, Benedicte; Dubourg, Christèle; Eiset, Saga Elise; Escobar, Luis F; Ferrarini, Alessandra; Haack, Tobias B; Hashim, Mona; Heide, Solveig; Helbig, Katherine L; Helbig, Ingo; Heredia, Raul; Héron, Delphine; Isidor, Bertrand; Jonasson, Amy R; Joset, Pascal; Keren, Boris; Kok, Fernando; Kroes, Hester Y; Lavillaureix, Alinoë; Lu, Xin; Maas, Saskia M; Maegawa, Gustavo H B; Marcelis, Carlo L M; Mark, Paul R; Masruha, Marcelo R; McLaughlin, Heather M; McWalter, Kirsty; Melchinger, Esther U; Mercimek-Andrews, Saadet; Nava, Caroline; Pendziwiat, Manuela; Person, Richard; Ramelli, Gian Paolo; Ramos, Luiza L P; Rauch, Anita; Reavey, Caitlin; Renieri, Alessandra; Rieß, Angelika; Sanchez-Valle, Amarilis; Sattar, Shifteh; Saunders, Carol; Schwarz, Niklas; Smol, Thomas; Srour, Myriam; Steindl, Katharina; Syrbe, Steffen; Taylor, Jenny C; Telegrafi, Aida; Thiffault, Isabelle; Trauner, Doris A; van der Linden, Helio Jr; van Koningsbruggen, Silvana; Villard, Laurent; Vogel, Ida; Vogt, Julie; Weber, Yvonne G; Wentzensen, Ingrid M; Widjaja, Elysa; Zak, Jaroslav; Baxter, Samantha; Banka, Siddharth; Rodan, Lance H