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

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia

CAPN1激活因子CD99L2的功能缺失变异会导致X连锁痉挛性共济失调。

Menden, Benita; Incebacak Eltemur, Rana D; Demidov, German; Sturm, Marc; Park, Joohyun; Huridou, Chrisovalantou; Fath, Florian; Nümann, Astrid; Baumann, Alexander; Diets, Illja J; Dufke, Claudia; Regensburger, Martin; Rönnefarth, Maria; Wilke, Vera; van Os, Nienke; Vielhaber, Stefan; Rattay, Tim W; Kohl, Zacharias; Peralta, Susana; Pereira Sena, Priscila; Kellner, Melanie; Weissert, Nadine; Traschütz, Andreas; Zeltner, Lena; Boelmans, Kai; Deininger, Natalie; Schütz, Leon; Gross, Caspar; Hinojosa Amaya, Ana Beatriz; Raupach, Katrin; Hengel, Holger; Harmuth, Florian; Admard, Jakob; Bader, Ingrid; Baumann, Sarah; Bender, Friedemann; Bevot, Andrea; Bischoff, Almut; Boschann, Felix; Buchert, Rebecca; Buchzik, Daniel; Casadei, Nicolas; Catarino, Claudia B; Cordts, Isabell; Cremer, Kirsten; Doebler-Neumann, Marion; Ehmke, Nadja; Elbracht, Miriam; Falb, Ruth J; Feindt, Thomas; Fleszar, Zofia; Gerstner, Lea; Gläser, Dieter; Grasshoff, Ute; Grosch, Sarah; Grundmann, Kathrin; Gutschalk, Alexander; Haaga, Manja; Hayer, Stefanie; Hehr, Ute; Hellenbroich, Yorck; Henn, Wolfram; Herr, Barbara; Herzog, Rebecca; Horber, Veronka; Deppe, Jonas; Kaiser, Nadja; Kehrer, Christiane; Kehrer, Martin; Kern, Jan; Keßler, Christoph; Khuller, Katharina; Klinkhammer, Hannah; Kotzaeridou, Urania; Krawitz, Peter; Kreiss, Martina; Küpper, Hanna; Kuster, Alice; Laugwitz, Lucia; Lesemann, Anne; Lichey, Nadine; Linden, Tobias; Macek, Boris; Magg, Janine; Mangold, Elisabeth; Manka, Eva; Marquardt, Iris; Mehnert, Karl; Mengel, David; Morlot, Susanne; Oehl-Jaschkowitz, Barbara; Pauly, Martje G; Philipp, Melanie; Radelfahr, Florentine; Rautenberg, Maren; Riess, Angelika; Saft, Carsten; Schlotter-Weigel, Beate; Schmidt, Axel; Schwaibold, Eva M C; Spahlinger, Veronika; Spranger, Stephanie; Steiner, Katharina Marie; Stendel, Claudia; Thieme, Andreas; Tzschach, Andreas; Velic, Ana; Wiethoff, Sarah; Wilke, Carlo; Züchner, Stephan; Zittel, Simone; Husain, Ralf A; Deschauer, Marcus; Distelmaier, Felix; Dufke, Andreas; Graessner, Holm; Hemmer, Bernhard; Jacobi, Heike; Klockgether, Thomas; Klopstock, Thomas; Kobeleva, Xenia; Korenke, Georg-Christoph; Kuechler, Alma; Kuhlenbäumer, Gregor; Kurth, Ingo; Nguyen, Huu Phuc; Wunderlich, Gilbert; Zeuner, Kirsten E; Klebe, Stephan; Auer-Grumbach, Michaela; Butryn, Michaela; Winkler, Jürgen; Timmann, Dagmar; Synofzik, Matthis; van de Warrenburg, Bart; Schüle, Rebecca; Schöls, Ludger; Ossowski, Stephan; Riess, Olaf; Weber, Jonasz J; Haack, Tobias B

Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders

剪接因子SF1的杂合致病变异会导致多种神经发育障碍。

Bou-Rouphael, Johnny; Cospain, Auriane; Courtin, Thomas; Keren, Boris; Marie, Corentine; Lesieur-Sebellin, Marion; Heron, Delphine; de Sainte Agathe, Jean-Madeleine; Heide, Solveig; Lejeune, Elodie; Quelin, Chloe; Lecoquierre, François; Nizon, Mathilde; Isidor, Bertrand; Besnard, Thomas; Cogne, Benjamin; Latypova, Xenia; Levy, Jonathan; Joset, Pascal; Steindl, Katharina; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Thomas, Mary Ann; Abubakar, Amina; Lynch, Sally Ann; Müller, Amelie J; Haack, Tobias B; Zenker, Martin; Parker, Michael; Clossick, Emma; Spiller, Michael; Crookes, Renarta; Holder-Espinasse, Muriel; Bayat, Allan; Møller, Rikke S; Mieszczanek, Tomasz Stanislaw; de la Grange, Pierre; Buratti, Julien; Marijon, Pierre; Ataf, Sabir; Gavin, Ryan; Parras, Carlos; Hassan, Bassem A; Mignot, Cyril; El Khattabi, Laïla

At-home blood collection and stabilization in high temperature climates using home RNA

在高温气候下使用家用RNA进行居家血液采集和稳定化

Lauren G Brown ,Amanda J Haack ,Dakota S Kennedy ,Karen N Adams ,Jennifer E Stolarczuk ,Meg G Takezawa ,Erwin Berthier ,Sanitta Thongpang ,Fang Yun Lim ,Damien Chaussabel ,Mathieu Garand ,Ashleigh B Theberge

Novel DNA methylation signatures of tobacco smoking with trans-ethnic effects

烟草吸烟的新型DNA甲基化特征及其跨种族效应

Christiansen, C; Castillo-Fernandez, J E; Domingo-Relloso, A; Zhao, W; El-Sayed Moustafa, J S; Tsai, P-C; Maddock, J; Haack, K; Cole, S A; Kardia, S L R; Molokhia, M; Suderman, M; Power, C; Relton, C; Wong, A; Kuh, D; Goodman, A; Small, K S; Smith, J A; Tellez-Plaza, M; Navas-Acien, A; Ploubidis, G B; Hardy, R; Bell, J T

Results of a randomized, double-blind phase II clinical trial of NY-ESO-1 vaccine with ISCOMATRIX adjuvant versus ISCOMATRIX alone in participants with high-risk resected melanoma

一项随机、双盲 II 期临床试验的结果显示,在接受切除手术的高危黑色素瘤患者中,NY-ESO-1 疫苗联合 ISCOMATRIX 佐剂与单独使用 ISCOMATRIX 佐剂的疗效存在差异。

Cebon, Jonathan S; Gore, Martin; Thompson, John F; Davis, Ian D; McArthur, Grant A; Walpole, Euan; Smithers, Mark; Cerundolo, Vincenzo; Dunbar, P Rod; MacGregor, Duncan; Fisher, Cyril; Millward, Michael; Nathan, Paul; Findlay, Michael P N; Hersey, Peter; Evans, T R Jeffry; Ottensmeier, Christian Hermann; Marsden, Jeremy; Dalgleish, Angus G; Corrie, Pippa G; Maria, Marples; Brimble, Margaret; Williams, Geoff; Winkler, Sintia; Jackson, Heather M; Endo-Munoz, Liliana; Tutuka, Candani S A; Venhaus, Ralph; Old, Lloyd J; Haack, Dennis; Maraskovsky, Eugene; Behren, Andreas; Chen, Weisan

Layer-by-layer fabrication of 3D hydrogel structures using open microfluidics

利用开放式微流体逐层制造三维水凝胶结构

Ulri N Lee, John H Day, Amanda J Haack, Ross C Bretherton, Wenbo Lu, Cole A DeForest, Ashleigh B Theberge, Erwin Berthier

Fast Fluorescence Lifetime Imaging Reveals the Aggregation Processes of α-Synuclein and Polyglutamine in Aging Caenorhabditis elegans

快速荧光寿命成像揭示衰老秀丽隐杆线虫中 α-突触核蛋白和多聚谷氨酰胺的聚集过程

Romain F Laine, Tessa Sinnige, Kai Yu Ma, Amanda J Haack, Chetan Poudel, Peter Gaida, Nathan Curry, Michele Perni, Ellen A A Nollen, Christopher M Dobson, Michele Vendruscolo, Gabriele S Kaminski Schierle, Clemens F Kaminski

Trials and Tribulations in the First Three Years in Operation of the SSAMS for Biomedical (14)C-AMS at LLNL

LLNL生物医学(14)C-AMS SSAMS运行前三年的挑战与磨难

Ognibene, T J; Haack, K W; Bench, G; Turteltaub, K W

Performance of a fast and high-resolution multi-echo spin-echo sequence for prostate T(2) mapping across multiple systems

多种系统下快速高分辨率多回波自旋回波序列在前列腺T2映射中的性能

van Houdt, Petra J; Agarwal, Harsh K; van Buuren, Laurens D; Heijmink, Stijn W T P J; Haack, Søren; van der Poel, Henk G; Ghobadi, Ghazaleh; Pos, Floris J; Peeters, Johannes M; Choyke, Peter L; van der Heide, Uulke A

Alpha-Synuclein affects neurite morphology, autophagy, vesicle transport and axonal degeneration in CNS neurons

突触核蛋白影响中枢神经系统神经元的神经突形态、自噬、囊泡运输和轴突变性

J C Koch, F Bitow, J Haack, Z d'Hedouville, J-N Zhang, L Tönges, U Michel, L M A Oliveira, T M Jovin, J Liman, L Tatenhorst, M Bähr, P Lingor