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

GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy

GRIN2A基因的无义突变会增加早发性精神分裂症和其他精神障碍的风险,并有可能实现精准治疗。

Lemke, Johannes R; Eoli, Andrea; Krey, Ilona; Popp, Bernt; Strehlow, Vincent; Wittekind, Dirk A; Vuorinen, Anna-Leena; Aldhalaan, Hesham M; Baer, Sarah; de Saint Martin, Anne; Hammer, Trine B; Herman, Isabella; Hornemann, Frauke; Ingebrigtsen, Trine; Lederer, Damien; Lesca, Gaetan; Marafie, Dana; Mathot, Mikael; Rosenfeld, Jill A; Møller, Rikke S; Schelhaas, Helenius J; Stillman, Chelsey; Orsini, Alessandro; Patel, Anup D; Piard, Juliette; Veggiotti, Pierangelo; Vlaskamp, Danique R M; Weckhuysen, Sarah; Traynelis, Stephen F; Benke, Tim A; Heyne, Henrike O; Syrbe, Steffen

Correction: GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy

更正:GRIN2A 基因缺失变异会增加早发性精神分裂症和其他精神障碍的风险,并可能使精准治疗成为可能。

Lemke, Johannes R; Eoli, Andrea; Krey, Ilona; Popp, Bernt; Strehlow, Vincent; Wittekind, Dirk A; Vuorinen, Anna-Leena; Aldhalaan, Hesham M; Baer, Sarah; de Saint Martin, Anne; Hammer, Trine B; Herman, Isabella; Hornemann, Frauke; Ingebrigtsen, Trine; Lederer, Damien; Lesca, Gaetan; Marafie, Dana; Mathot, Mikael; Rosenfeld, Jill A; Møller, Rikke S; Schelhaas, Helenius J; Stillman, Chelsey; Orsini, Alessandro; Patel, Anup D; Piard, Juliette; Veggiotti, Pierangelo; Vlaskamp, Danique R M; Weckhuysen, Sarah; Traynelis, Stephen F; Benke, Tim A; Heyne, Henrike O; Syrbe, Steffen

The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse Model

小鼠模型中KPTN相关疾病的临床谱和神经发育发病机制

Rawlins, Lettie E; Iffland, Philip H 2nd; Page, John; Flessner, Rebecca Z; Elziny, Soad M; Sbornova, Irina; Babus, Janice K; Bruckmeier, Sophie R; Parikh, Ria; Verhoeven, Merel; Fasham, James; Leslie, Joseph S; Caswell, Richard; Ubeyratna, Nishanka; Wenger, Olivia; Scott, Ethan M; Schreiber, John; Syrbe, Steffen; Klabunde-Cherwon, Annick; Owens, Martina; Crosby, Andrew H; Baple, Emma L; Crino, Peter B

Memantine treatment in individuals with GRIN gain-of-function variants is associated with improvements in behavior, development, and seizure frequency

在携带GRIN功能获得性变异的个体中,美金刚治疗与行为、发育和癫痫发作频率的改善相关。

Karnstedt, Maike; Perszyk, Riley E; Myers, Scott J; McDaniels, Ellington; Somorai, Marta; Borggraefe, Ingo; Veenma, Danielle C M; Schoonjans, An-Sofie; Striano, Pasquale; Fantaneanu, Tadeu A; Syrbe, Steffen; Park, Kristen; Chen, Wenjuan; Yuan, Hongjie; Traynelis, Stephen F; Benke, Timothy A; Lemke, Johannes R; Krey, Ilona

Clinical and genetic diagnostic challenges in presumed hereditary ataxia

疑似遗传性共济失调的临床和遗传诊断挑战

Faust, Helene; Duffek, Patricia; Drukewitz, Stephan; Gburek-Augustat, Janina; Baum, Petra; Bergner, Christa-Caroline; Syrbe, Steffen; Schröter, Julian; Jamra, Rami Abou; Popp, Denny

Phenotype Spectrum of TRPM3-Associated Disorders

TRPM3相关疾病的表型谱

Jolitz, Laura; Helbig, Ingo; Fitzgerald, Mark P; McKeown Ruggiero, Sarah; Cohen, Stacey; Angelini, Chloe; Vallespin, Elena; Michaud, Vincent; Gerasimenko, Anna; Cogne, Benjamin; Isidor, Bertrand; Keren, Boris; Dyment, David; Heron, Delphine; Karstensen, Helena Gásdal; Cuppen, Inge; Christodoulou, John; Wilson, Meredith; Lake, Nicole J; Biskup, Saskia; Syrbe, Steffen; Mori, Takayasu; Becker, Lena-Luise; Kaindl, Angela M

HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models.

HCN2 相关神经发育障碍:来自患者和非洲爪蟾细胞模型的数据

Houdayer Clara, Phillips A Marie, Chabbert Marie, Bourreau Jennifer, Maroofian Reza, Houlden Henry, Richards Kay, Saadi Nebal Waill, Dad'ová Eliška, Van Bogaert Patrick, Rupin Mailys, Keren Boris, Charles Perrine, Smol Thomas, Riquet Audrey, Pais Lynn, O'Donnell-Luria Anne, VanNoy Grace E, Bayat Allan, Møller Rikke S, Olofsson Kern, Jamra Rami Abou, Syrbe Steffen, Dasouki Majed, Seaver Laurie H, Sullivan Jennifer A, Shashi Vandana, Alkuraya Fowzan S, Poss Alexis F, Spence J Edward, Schnur Rhonda E, Forster Ian C, Mckenzie Chaseley E, Simons Cas, Wang Min, Snell Penny, Kothur Kavitha, Buckley Michael, Roscioli Tony, Elserafy Noha, Dauriat Benjamin, Procaccio Vincent, Henrion Daniel, Lenaers Guy, Colin Estelle, Verbeek Nienke E, Van Gassen Koen L, Legendre Claire, Bonneau Dominique, Reid Christopher A, Howell Katherine B, Ziegler Alban, Legros Christian

Clinical Characterization and Long-Term Outcome in Children and Adults With Anti-AMPA Receptor Encephalitis

抗AMPA受体脑炎患儿及成人的临床特征和长期预后

Milano, Chiara; Saylam, Ezgi; Papi, Claudia; Marmolejo, Laura; Sankovic, Alexandra; Reinecke, Raphael; Kerstens, Jeroen; Pizzanelli, Chiara; Simabukuro, Mateus Mistieri; Benaiteau, Marie; Joubert, Bastien; Gastaldi, Matteo; Dutra, Lívia Almeida; Leypoldt, Frank; Jansen, Mareike; Kawachi, Izumi; Akiyama, Hisanao; Boy, Nikolas; Bozzetti, Silvia; Christensen, Peter Broegger; Businaro, Pietro; Dinoto, Alessandro; Friedman-Korn, Tal; Fujiwara, Urara; Fukumoto, Tatsuya; Fuse, Kenshiro; Hooshmand, Sam Ishmael; Hurst, Lauren; Iorio, Raffaele; Korn-Lubetzki, Isabelle; Rodrigues, André Filipe Lucchi; Mariotto, Sara; Michael, Johannes; Morimoto, Yuko; Neuteboom, Rinze Frederik; Piquet, Amanda L; Rossetti, Andrea O; Rumpler-Kreiner, Sabine; Santoro, Jonathan D; Schwendinger, Florian; Shen, Brenda; Syrbe, Steffen; Troger, Johannes; Wagner, Ingrid; Bien, Christian G; Martinez-Hernandez, Eugenia; Armangue, Thais; Höftberger, Romana; Iizuka, Takahiro; Titulaer, Maarten J; Honnorat, Jerome; Graus, Francesc; Dalmau, Josep O; Magaña, Setty; Spatola, Marianna

Amitriptyline use in individuals with KCNQ2/3 gain-of-function variants: A retrospective cohort study

阿米替林在携带KCNQ2/3功能获得性变异个体中的应用:一项回顾性队列研究

De Wachter, Matthias; Millevert, Charissa; Nicolai, Joost; Cats, Elisabeth; Kluger, Gerhard; Milh, Mathieu; Cloarec, Robin; Syrbe, Steffen; Arts, Katrijn; Jansen, Katrien; Krygier, Magdalena; Smigiel, Robert; Auvin, Stephane; Olofson, Kern; Gjerulfsen, Cathrine Elisabeth; Ceulemans, Berten; Møller, Rikke S; Bayat, Allan; Weckhuysen, Sarah

Differential outcomes in familial and sporadic SCN8A self-limited infantile epilepsies: Insights from a large international registry

家族性和散发性SCN8A自限性婴儿癫痫的差异性预后:来自大型国际注册研究的启示

Furia, Francesca; Gverdtsiteli, Sopio; Janzarik, Wibke; Korff, Christian; Lesca, Gaetan; Mancardi, Maria Margherita; Montomoli, Martino; Nikanorova, Marina; Romaniello, Romina; Rubboli, Guido; Syrbe, Steffen; Vigevano, Federico; Møller, Rikke S; Gardella, Elena