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

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

致病性UNC13A变异体通过损害突触功能导致神经发育综合征。

Asadollahi, Reza; Ahmad, Aisha; Boonsawat, Paranchai; Shahanoor Hinzen, Jasmine; Lohse, Mareike; Bouazza-Arostegui, Boris; Sun, Siqi; Utesch, Tillmann; Sommer, Jonas D; Ilic, Dragana; Padmanarayana, Murugesh; Fischermanns, Kati; Ranjan, Mrinalini; Boll, Moritz; Ka, Chandran; Piton, Amélie; Mattioli, Francesca; Isidor, Bertrand; Õunap, Katrin; Reinson, Karit; Wojcik, Monica H; Marshall, Christian R; Mercimek-Andrews, Saadet; Matsumoto, Naomichi; Miyake, Noriko; Stephan, Bruno de Oliveira; Honjo, Rachel Sayuri; Bertola, Debora R; Kim, Chong Ae; Yusupov, Roman; Mefford, Heather C; Christodoulou, John; Lee, Joy; Heath, Oliver; Brown, Natasha J; Baker, Naomi; Stark, Zornitza; Delatycki, Martin; Lake, Nicole J; Zeidler, Shimriet; Zuurbier, Linda; Maas, Saskia M; de Kruiff, Chris C; Rajabi, Farrah; Rodan, Lance H; Coury, Stephanie A; Platzer, Konrad; Oppermann, Henry; Abou Jamra, Rami; Beblo, Skadi; Maxton, Caroline; Śmigiel, Robert; Underhill, Hunter; Dubbs, Holly; Rosen, Alyssa; Helbig, Katherine L; Helbig, Ingo; Ruggiero, Sarah McKeown; Fitzgerald, Mark P; Kraemer, Dennis; Prada, Carlos E; Tenney, Jeffrey; Jayakar, Parul; Redon, Sylvia; Lefranc, Jérémie; Uguen, Kevin; Race, Simone; Efthymiou, Stephanie; Maroofian, Reza; Houlden, Henry; Coppens, Sandra; Deconinck, Nicolas; Ashokkumar, Balasubramaniem; Varalakshmi, Perumal; Gowda K, Vykunta Raju; Eghbal, Fatemeh; Ghayoor Karimiani, Ehsan; Heidari, Morteza; Neidhardt, John; Owczarek-Lipska, Marta; Korenke, G Christoph; Bamshad, Michael J; Campeau, Philippe M; Lehman, Anna; Hendon, Laura G; Wentzensen, Ingrid M; Monaghan, Kristin G; Chen, Yanmin; Szuto, Anna; Cohn, Ronald D; Au, Ping Yee Billie; Hübner, Christoph; Boschann, Felix; Manickam, Kandamurugu; Koboldt, Daniel C; Rad, Aboulfazl; Oprea, Gabriela; Bachman, Kristine K; Seeley, Andrea H; Agolini, Emanuele; Terracciano, Alessandra; Carmelo, Piscopo; Bupp, Caleb; Grysko, Bethany; Rein-Rothschild, Annick; Ben Zeev, Bruria; Margolin, Amy; Morrison, Jennifer; Dagli, Aditi; Stolerman, Elliot; Louie, Raymond J; Washington, Camerun; Stevens, Servi J C; Heijligers, Malou; Alkuraya, Fowzan S; Lisfeld, Jasmin; Neu, Axel; Paoli Monteiro, Fabíola; Santos Pessoa, André Luiz; Camelo-Filho, Antonio Edvan; Kok, Fernando; Koeberl, Dwight; Riley, Kacie; Burglen, Lydie; Doummar, Diane; Héron, Bénédicte; Mignot, Cyril; Keren, Boris; Charles, Perrine; Nava, Caroline; Bernhard, Felix P; Kühn, Andrea A; Thoms, Sven; Morrie, Ryan D; Mekhoubad, Shila; Green, Eric M; Barmada, Sami J; Gitler, Aaron D; Jahn, Olaf; Rhee, Jeong Seop; Rosenmund, Christian; Mitkovski, Mišo; Sticht, Heinrich; Sun, Han; Le Gac, Gerald; Taschenberger, Holger; Brose, Nils; Dittman, Jeremy S; Rauch, Anita; Lipstein, Noa

Ambiguous Clinical Presentations and Imaging Findings in Genetic Dilated Cardiomyopathy

遗传性扩张型心肌病的临床表现和影像学表现不明确

Ahmed, Mohammad Umar; Hollowell, Matthew; Khaleel, Ibrahim; Akram, Mahrukh; Banno, Joseph; Clay, Jodi; Hadley, Ryan; Kidambi, Pranav; Grysko, Bethany; Jani, Milena; Franey, Laura; Tan, Jose; Chalfoun, Nagib; Abdallah, Wissam; Dandamudi, Sanjay

Vegetation type is an important predictor of the arctic summer land surface energy budget

植被类型是北极夏季陆地表面能量收支的重要预测因子。

Oehri, Jacqueline; Schaepman-Strub, Gabriela; Kim, Jin-Soo; Grysko, Raleigh; Kropp, Heather; Grünberg, Inge; Zemlianskii, Vitalii; Sonnentag, Oliver; Euskirchen, Eugénie S; Reji Chacko, Merin; Muscari, Giovanni; Blanken, Peter D; Dean, Joshua F; di Sarra, Alcide; Harding, Richard J; Sobota, Ireneusz; Kutzbach, Lars; Plekhanova, Elena; Riihelä, Aku; Boike, Julia; Miller, Nathaniel B; Beringer, Jason; López-Blanco, Efrén; Stoy, Paul C; Sullivan, Ryan C; Kejna, Marek; Parmentier, Frans-Jan W; Gamon, John A; Mastepanov, Mikhail; Wille, Christian; Jackowicz-Korczynski, Marcin; Karger, Dirk N; Quinton, William L; Putkonen, Jaakko; van As, Dirk; Christensen, Torben R; Hakuba, Maria Z; Stone, Robert S; Metzger, Stefan; Vandecrux, Baptiste; Frost, Gerald V; Wild, Martin; Hansen, Birger; Meloni, Daniela; Domine, Florent; Te Beest, Mariska; Sachs, Torsten; Kalhori, Aram; Rocha, Adrian V; Williamson, Scott N; Morris, Sara; Atchley, Adam L; Essery, Richard; Runkle, Benjamin R K; Holl, David; Riihimaki, Laura D; Iwata, Hiroki; Schuur, Edward A G; Cox, Christopher J; Grachev, Andrey A; McFadden, Joseph P; Fausto, Robert S; Göckede, Mathias; Ueyama, Masahito; Pirk, Norbert; de Boer, Gijs; Bret-Harte, M Syndonia; Leppäranta, Matti; Steffen, Konrad; Friborg, Thomas; Ohmura, Atsumu; Edgar, Colin W; Olofsson, Johan; Chambers, Scott D

Genomic, transcriptomic, and protein landscape profile of CFTR and cystic fibrosis

CFTR 和囊性纤维化的基因组、转录组和蛋白质图谱

Sanders, Morgan; Lawlor, James M J; Li, Xiaopeng; Schuen, John N; Millard, Susan L; Zhang, Xi; Buck, Leah; Grysko, Bethany; Uhl, Katie L; Hinds, David; Stenger, Cynthia L; Morris, Michele; Lamb, Neil; Levy, Hara; Bupp, Caleb; Prokop, Jeremy W

Design of the tundra rainfall experiment (TRainEx) to simulate future summer precipitation scenarios

设计苔原降雨实验(TRainEx)以模拟未来夏季降水情景

Grysko, Raleigh; Plekhanova, Elena; Oehri, Jacqueline; Karsanaev, Sergey V; Maximov, Trofim C; Schaepman-Strub, Gabriela

Neurocalcin Delta Knockout Impairs Adult Neurogenesis Whereas Half Reduction Is Not Pathological

神经钙蛋白 Delta 基因敲除会损害成人神经发生,而神经钙蛋白减少一半并不会引起病理

Aaradhita Upadhyay, Seyyedmohsen Hosseinibarkooie, Svenja Schneider, Anna Kaczmarek, Laura Torres-Benito, Natalia Mendoza-Ferreira, Melina Overhoff, Roman Rombo, Vanessa Grysko, Min Jeong Kye, Natalia L Kononenko, Brunhilde Wirth

Plastin 3 influences bone homeostasis through regulation of osteoclast activity

Plastin 3 通过调节破骨细胞活性来影响骨稳态

Janine Neugebauer, Juliane Heilig, Seyyedmohsen Hosseinibarkooie, Bryony C Ross, Natalia Mendoza-Ferreira, Franziska Nolte, Miriam Peters, Irmgard Hölker, Kristina Hupperich, Theresa Tschanz, Vanessa Grysko, Frank Zaucke, Anja Niehoff, Brunhilde Wirth

Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis

神经钙蛋白 Delta 抑制可通过恢复受损的内吞作用预防人类和跨物种脊髓性肌萎缩症

Markus Riessland, Anna Kaczmarek, Svenja Schneider, Kathryn J Swoboda, Heiko Löhr, Cathleen Bradler, Vanessa Grysko, Maria Dimitriadi, Seyyedmohsen Hosseinibarkooie, Laura Torres-Benito, Miriam Peters, Aaradhita Upadhyay, Nasim Biglari, Sandra Kröber, Irmgard Hölker, Lutz Garbes, Christian Gilissen,

Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis

神经钙蛋白δ抑制通过恢复受损的内吞作用,保护人类及其他物种免受脊髓性肌萎缩症的侵害

Markus Riessland,Anna Kaczmarek,Svenja Schneider,Kathryn J Swoboda,Heiko Löhr,Cathleen Bradler,Vanessa Grysko,Maria Dimitriadi,Seyyedmohsen Hosseinibarkooie,Laura Torres-Benito,Miriam Peters,Aaradhita Upadhyay,Nasim Biglari,Sandra Kröber,Irmgard Hölker,Lutz Garbes,Christian Gilissen,Alexander Hoischen,Gudrun Nürnberg,Peter Nürnberg,Michael Walter,Frank Rigo,C Frank Bennett,Min Jeong Kye,Anne C Hart,Matthias Hammerschmidt,Peter Kloppenburg,Brunhilde Wirth