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

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

一项针对C9orf72基因中GGGGCC重复序列扩增的基因检测可靠性的国际盲法研究显示,14个实验室的检测结果存在显著差异。

Akimoto, Chizuru; Volk, Alexander E; van Blitterswijk, Marka; Van den Broeck, Marleen; Leblond, Claire S; Lumbroso, Serge; Camu, William; Neitzel, Birgit; Onodera, Osamu; van Rheenen, Wouter; Pinto, Susana; Weber, Markus; Smith, Bradley; Proven, Melanie; Talbot, Kevin; Keagle, Pamela; Chesi, Alessandra; Ratti, Antonia; van der Zee, Julie; Alstermark, Helena; Birve, Anna; Calini, Daniela; Nordin, Angelica; Tradowsky, Daniela C; Just, Walter; Daoud, Hussein; Angerbauer, Sabrina; DeJesus-Hernandez, Mariely; Konno, Takuya; Lloyd-Jani, Anjali; de Carvalho, Mamede; Mouzat, Kevin; Landers, John E; Veldink, Jan H; Silani, Vincenzo; Gitler, Aaron D; Shaw, Christopher E; Rouleau, Guy A; van den Berg, Leonard H; Van Broeckhoven, Christine; Rademakers, Rosa; Andersen, Peter M; Kubisch, Christian

Analysis of the KIFAP3 gene in amyotrophic lateral sclerosis: a multicenter survival study

肌萎缩侧索硬化症中KIFAP3基因的分析:一项多中心生存研究

van Doormaal, Perry T C; Ticozzi, Nicola; Gellera, Cinzia; Ratti, Antonia; Taroni, Franco; Chiò, Adriano; Calvo, Andrea; Mora, Gabriele; Restagno, Gabriella; Traynor, Bryan J; Birve, Anna; Lemmens, Robin; van Es, Michael A; Saris, Christiaan G J; Blauw, Hylke M; van Vught, Paul W J; Groen, Ewout J N; Corrado, Lucia; Mazzini, Letizia; Del Bo, Roberto; Corti, Stefania; Waibel, Stefan; Meyer, Thomas; Ludolph, Albert C; Goris, An; van Damme, Philip; Robberecht, Wim; Shatunov, Aleksey; Fogh, Isabella; Andersen, Peter M; D'Alfonso, Sandra; Hardiman, Orla; Cronin, Simon; Rujescu, Dan; Al-Chalabi, Ammar; Landers, John E; Silani, Vincenzo; van den Berg, Leonard H; Veldink, Jan H

The Drosophila midkine/pleiotrophin homologues Miple1 and Miple2 affect adult lifespan but are dispensable for alk signaling during embryonic gut formation.

果蝇中肾素/多效蛋白同源物 Miple1 和 Miple2 影响成虫寿命,但在胚胎肠道形成过程中,它们对于 alk 信号传导并非必需

Hugosson Fredrik, Sjögren Camilla, Birve Anna, Hedlund Ludmilla, Eriksson Therese, Palmer Ruth H

A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts

一项针对美国、北欧和德国肌萎缩侧索硬化症/额颞叶痴呆患者的大规模筛查发现了一种新的profilin 1磷酸化位点突变

Ingre, Caroline; Landers, John E; Rizik, Naji; Volk, Alexander E; Akimoto, Chizuru; Birve, Anna; Hübers, Annemarie; Keagle, Pamela J; Piotrowska, Katarzyna; Press, Rayomand; Andersen, Peter Munch; Ludolph, Albert C; Weishaupt, Jochen H

Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosis

GluR2基因的多态性与肌萎缩侧索硬化症无关。

Bogaert, Elke; Goris, An; Van Damme, Philip; Geelen, Veerle; Lemmens, Robin; van Es, Michael A; van den Berg, Leonard H; Sleegers, Kristel; Verpoorten, Nathalie; Timmerman, Vincent; De Jonghe, Peter; Van Broeckhoven, Christine; Traynor, Bryan J; Landers, John E; Brown, Robert H Jr; Glass, Jonathan D; Al-Chalabi, Ammar; Shaw, Christopher E; Birve, Anna; Andersen, Peter M; Slowik, Agnieszka; Tomik, Barbara; Melki, Judith; Robberecht, Wim; Van Den Bosch, Ludo

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

帕金森病和肌萎缩侧索硬化症中的血管生成素变体

van Es, Michael A; Schelhaas, Helenius J; van Vught, Paul W J; Ticozzi, Nicola; Andersen, Peter M; Groen, Ewout J N; Schulte, Claudia; Blauw, Hylke M; Koppers, Max; Diekstra, Frank P; Fumoto, Katsumi; LeClerc, Ashley Lyn; Keagle, Pamela; Bloem, Bastiaan R; Scheffer, Hans; van Nuenen, Bart F L; van Blitterswijk, Marka; van Rheenen, Wouter; Wills, Anne-Marie; Lowe, Patrick P; Hu, Guo-fu; Yu, Wenhao; Kishikawa, Hiroko; Wu, David; Folkerth, Rebecca D; Mariani, Claudio; Goldwurm, Stefano; Pezzoli, Gianni; Van Damme, Philip; Lemmens, Robin; Dahlberg, Caroline; Birve, Anna; Fernández-Santiago, Rubén; Waibel, Stefan; Klein, Christine; Weber, Markus; van der Kooi, Anneke J; de Visser, Marianne; Verbaan, Dagmar; van Hilten, Jacobus J; Heutink, Peter; Hennekam, Eric A M; Cuppen, Edwin; Berg, Daniela; Brown, Robert H Jr; Silani, Vincenzo; Gasser, Thomas; Ludolph, Albert C; Robberecht, Wim; Ophoff, Roel A; Veldink, Jan H; Pasterkamp, R Jeroen; de Bakker, Paul I W; Landers, John E; van de Warrenburg, Bart P; van den Berg, Leonard H