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

Single nucleotide variants in UNC13C associated with neurodevelopmental disorders affect ethanol sensitivity in Drosophila

与神经发育障碍相关的UNC13C单核苷酸变异会影响果蝇的乙醇敏感性

Müller, Franz; Neuser, Sonja; Shrestha, Gaurav; Neupane, Netra P; Götze, Katharina J; Brunetti-Pierri, Nicola; Terrone, Gaetano; Reymond, Alexandre; van Gassen, Koen L; Brilstra, Eva; Steindl, Katharina; Begemann, Anais; Rauch, Anita; Rips, Jonathan; Fahham, Duha; Barakat, Tahsin Stefan; Patat, Olivier; Mortreux, Jérémie; Chau, Matthew Hoi Kin; Rosenfeld, Jill A; Mizerik, Elizabeth; Srivastava, Swati; Luo, Xi; Dahse, Anne-Kristin; Scholz, Nicole; Das, Joydip; Roman, Gregg; Langenhan, Tobias; Abou Jamra, Rami; Mrestani, Achmed; Ljaschenko, Dmitrij

Blueprint for clinical N-of-1 strategies with off-label precision treatments in monogenic epilepsies

单基因癫痫非适应症精准治疗的临床N-of-1策略蓝图

Defelippe, Victoria M; Brilstra, Eva H; Otte, Willem M; van Thiel, Ghislaine J M W; Cross, Helen J; O'Callaghan, Finbar; De Giorgis, Valentina; Perucca, Emilio; Braun, Kees P J; Jansen, Floor E

Somatic variant analysis of resected brain tissue in epilepsy surgery patients

癫痫手术患者切除脑组织的体细胞变异分析

Sanders, Maurits W C B; Koeleman, Bobby P C; Brilstra, Eva H; Jansen, Floor E; Baldassari, Sara; Chipaux, Mathilde; Sim, Nam Suk; Ko, Ara; Kang, Hoon-Chul; Blümcke, Ingmar; Lal, Dennis; Baulac, Stéphanie; Lee, Jeong Ho; Aronica, Eleonora; Braun, Kees P J

The effects of etidronate on brain calcifications in Fahr's disease or syndrome: rationale and design of the randomised, placebo-controlled, double-blind CALCIFADE trial

依替膦酸钠对法尔氏病或综合征脑钙化的影响:随机、安慰剂对照、双盲 CALCIFADE 试验的原理和设计

Snijders, Birgitta Mg; Mathijssen, Gini; Peters, Mike Jl; Emmelot-Vonk, Marielle H; de Jong, Pim A; Bakker, Susan; Crommelin, Heleen A; Ruigrok, Ynte M; Brilstra, Eva H; Schepers, Vera Pm; Spiering, Wilko; van Valen, Evelien; Koek, Huiberdina L

The Association between Intracranial Calcifications and Symptoms in Patients with Primary Familial Brain Calcification

颅内钙化与原发性家族性脑钙化患者症状之间的关联

Mathijssen, Gini; van Valen, Evelien; de Jong, Pim A; Golüke, Nienke M S; van Maren, Emiel A; Snijders, Birgitta M G; Brilstra, Eva H; Ruigrok, Ynte M; Bakker, Susan; Goto, Renzo W; Emmelot-Vonk, Marielle H; Koek, Huiberdina L

Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia

引起发作性或慢性共济失调的 SCN8A 变异的临床和电生理特征

Hang Lyu, Christian M Boßelmann, Katrine M Johannesen, Mahmoud Koko, Juan Dario Ortigoza-Escobar, Sergio Aguilera-Albesa, Deyanira Garcia-Navas Núñez, Tarja Linnankivi, Eija Gaily, Henriette J A van Ruiten, Ruth Richardson, Cornelia Betzler, Gabriella Horvath, Eva Brilstra, Niels Geerdink, Daniele O

ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks

ANK2 功能丧失变异与癫痫有关,并导致 hiPSC 衍生的神经元网络中轴突起始节段可塑性受损和网络活动过度活跃

Maria W A Teunissen, Elly Lewerissa, Eline J H van Hugte, Shan Wang, Charlotte W Ockeloen, David A Koolen, Rolph Pfundt, Carlo L M Marcelis, Eva Brilstra, Jennifer L Howe, Stephen W Scherer, Xavier Le Guillou, Frédéric Bilan, Michelle Primiano, Jasmin Roohi, Amelie Piton, Anne de Saint Martin, Sarah

Uncertain futures and unsolicited findings in pediatric genomic sequencing: guidelines for return of results in cases of developmental delay

儿童基因组测序中不确定的未来和意外发现:发育迟缓病例结果反馈指南

Cornelis, Candice; Dondorp, Wybo; Bolt, Ineke; de Wert, Guido; van Summeren, Marieke; Brilstra, Eva; Knoers, Nine; Bredenoord, Annelien L

Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome

癫痫是KBG综合征的一个重要特征,与较差的发育结局相关。

Buijsse, Nathan; Jansen, Floor E; Ockeloen, Charlotte W; van Kempen, Marjan J A; Zeidler, Shimriet; Willemsen, Marjolein H; Scarano, Emanuela; Monticone, Sonia; Zonneveld-Huijssoon, Evelien; Low, Karen J; Bayat, Allan; Sisodiya, Sanjay M; Samanta, Debopam; Lesca, Gaetan; de Jong, Danielle; Giltay, Jaqcues C; Verbeek, Nienke E; Kleefstra, Tjitske; Brilstra, Eva H; Vlaskamp, Danique R M

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

SCN8A相关疾病的基因型-表型相关性揭示了其预后和治疗意义。

Johannesen, Katrine M; Liu, Yuanyuan; Koko, Mahmoud; Gjerulfsen, Cathrine E; Sonnenberg, Lukas; Schubert, Julian; Fenger, Christina D; Eltokhi, Ahmed; Rannap, Maert; Koch, Nils A; Lauxmann, Stephan; Krüger, Johanna; Kegele, Josua; Canafoglia, Laura; Franceschetti, Silvana; Mayer, Thomas; Rebstock, Johannes; Zacher, Pia; Ruf, Susanne; Alber, Michael; Sterbova, Katalin; Lassuthová, Petra; Vlckova, Marketa; Lemke, Johannes R; Platzer, Konrad; Krey, Ilona; Heine, Constanze; Wieczorek, Dagmar; Kroell-Seger, Judith; Lund, Caroline; Klein, Karl Martin; Au, P Y Billie; Rho, Jong M; Ho, Alice W; Masnada, Silvia; Veggiotti, Pierangelo; Giordano, Lucio; Accorsi, Patrizia; Hoei-Hansen, Christina E; Striano, Pasquale; Zara, Federico; Verhelst, Helene; Verhoeven, Judith S; Braakman, Hilde M H; van der Zwaag, Bert; Harder, Aster V E; Brilstra, Eva; Pendziwiat, Manuela; Lebon, Sebastian; Vaccarezza, Maria; Le, Ngoc Minh; Christensen, Jakob; Grønborg, Sabine; Scherer, Stephen W; Howe, Jennifer; Fazeli, Walid; Howell, Katherine B; Leventer, Richard; Stutterd, Chloe; Walsh, Sonja; Gerard, Marion; Gerard, Bénédicte; Matricardi, Sara; Bonardi, Claudia M; Sartori, Stefano; Berger, Andrea; Hoffman-Zacharska, Dorota; Mastrangelo, Massimo; Darra, Francesca; Vøllo, Arve; Motazacker, M Mahdi; Lakeman, Phillis; Nizon, Mathilde; Betzler, Cornelia; Altuzarra, Cecilia; Caume, Roseline; Roubertie, Agathe; Gélisse, Philippe; Marini, Carla; Guerrini, Renzo; Bilan, Frederic; Tibussek, Daniel; Koch-Hogrebe, Margarete; Perry, M Scott; Ichikawa, Shoji; Dadali, Elena; Sharkov, Artem; Mishina, Irina; Abramov, Mikhail; Kanivets, Ilya; Korostelev, Sergey; Kutsev, Sergey; Wain, Karen E; Eisenhauer, Nancy; Wagner, Monisa; Savatt, Juliann M; Müller-Schlüter, Karen; Bassan, Haim; Borovikov, Artem; Nassogne, Marie Cecile; Destrée, Anne; Schoonjans, An Sofie; Meuwissen, Marije; Buzatu, Marga; Jansen, Anna; Scalais, Emmanuel; Srivastava, Siddharth; Tan, Wen Hann; Olson, Heather E; Loddenkemper, Tobias; Poduri, Annapurna; Helbig, Katherine L; Helbig, Ingo; Fitzgerald, Mark P; Goldberg, Ethan M; Roser, Timo; Borggraefe, Ingo; Brünger, Tobias; May, Patrick; Lal, Dennis; Lederer, Damien; Rubboli, Guido; Heyne, Henrike O; Lesca, Gaetan; Hedrich, Ulrike B S; Benda, Jan; Gardella, Elena; Lerche, Holger; Møller, Rikke S