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

Multi-layered molecular profiling informs the diagnosis and targeted therapy of desmoplastic small round cell tumor

多层分子谱分析为促纤维增生性小圆细胞肿瘤的诊断和靶向治疗提供信息

Renner, Marcus; Oleś, Małgorzata; Paramasivam, Nagarajan; Heilig, Christoph E; Schneider, Annika; Modugno, Caroline; Herremans, Catherine; Hüllein, Jennifer; Hutter, Barbara; Erkut, Cihan; Mock, Andreas; Krieghoff-Henning, Eva; Jensen, Cecilia B; Sakhteman, Amirhossein; The, Matthew; Prinz, Tony; Lajer, Panna; Baude-Müller, Annika; Beck, Katja; Beuthien-Baumann, Bettina; Apostolidis, Leonidas; Bauer, Sebastian; Boerries, Melanie; Brandts, Christian H; Rieke, Damian T; Kindler, Thomas; Klauschen, Frederick; Schulze-Osthoff, Klaus; Schlenk, Richard F; Berchem, Guy; Allgäuer, Michael; Mechtersheimer, Gunhild; Stenzinger, Albrecht; Lipka, Daniel B; Schlesner, Matthias; Kuster, Bernhard; Jahn, Arne; Schröck, Evelin; Heining, Christoph; Teleanu, Maria-Veronica; Horak, Peter; Kreutzfeldt, Simon; Hübschmann, Daniel; Hartmann, Wolfgang; Glimm, Hanno; Fröhling, Stefan

High-throughput chemical proteomics workflow for profiling protein citrullination dynamics.

用于分析蛋白质瓜氨酸化动态的高通量化学蛋白质组学工作流程。

Meelker González Rebecca, Laposchan Sophia, Riedel Erik, Fürst Anna, O'Sullivan Naomi, Gabriel Wassim, Wilhelm Mathias, Knolle Percy A, Médard Guillaume, Kuster Bernhard, Lee Chien-Yun

Diagnostic Value and Outcomes of Systematic SARS-CoV-2 Screening in Asymptomatic Patients

对无症状患者进行系统性SARS-CoV-2筛查的诊断价值和结果

Weiss, Marvin; Urwyler, Pascal; von Rotz, Matthias; Kuehl, Richard; Kuster, Sabine; Vock, Isabelle; Aguilar-Bultet, Lisandra; Franzeck, Fabian C; Bagutti, Claudia; Rentsch, Katharina; Bassetti, Stefano; Leuzinger, Karoline; Tschudin-Sutter, Sarah

Non-invasive temporal interference stimulation of the hippocampus suppresses epileptic biomarkers in patients with Epilepsy: biophysical differences between kilohertz and amplitude modulated stimulation

非侵入性海马时间干扰刺激可抑制癫痫患者的癫痫生物标志物:千赫兹刺激与幅度调制刺激的生物物理差异

Missey, Florian; Acerbo, Emma; Dickey, Adam S; Trajlinek, Jan; Studnička, Ondřej; Lubrano, Claudia; de Araújo E Silva, Mariane; Brady, Evan; Všianský, Vit; Szabo, Johanna; Dolezalova, Irena; Fabo, Daniel; Pail, Martin; Gutekunst, Claire-Anne; Migliore, Rosanna; Migliore, Michele; Lagarde, Stanislas; Carron, Romain; Karimi, Fariba; Astorga, Raul Castillo; Cassara, Antonino M; Kuster, Niels; Neufeld, Esra; Bartolomei, Fabrice; Pedersen, Nigel P; Gross, Robert E; Jirsa, Viktor; Drane, Daniel L; Brázdil, Milan; Williamson, Adam

Caffeic Acid, Reduced Glutathione, and Ferric Iron Addition Effects on the Redox Potential of Model Wine Solutions

咖啡酸、还原型谷胱甘肽和三价铁的添加对模型葡萄酒溶液氧化还原电位的影响

Wright, William Jordan; Parnigoni, Dallas J; Kuster, Sean; Nelson, James; Coleman, Robert E; Casassa, L Federico

Ex-vivo culture of human hypertrophic cardiomyopathy hearts: Functional and metabolic changes during long-term culture.

人类肥厚型心肌病心脏的体外培养:长期培养过程中的功能和代谢变化。

Nassar Ali, Warnaar Vincent A J, Duursma Inez, Schomakers Bauke V, Chaami Chahida, Ochala Julien, van Weeghel Michel, Houtkooper Riekelt H, Michels Michelle, Dendorfer Andreas, Kuster Diederik W D, van der Velden Jolanda

Left ventricular function and its longitudinal change in Swiss childhood cancer survivors - results from the CardioOnco study

瑞士儿童癌症幸存者左心室功能及其纵向变化——来自 CardioOnco 研究的结果

Fankhauser, Severin; Shoman, Yara; Belle, Fabiën N; Haegler-Laube, Eva; Hundertmark, Moritz J; Kuster, Gabriela M; Scheler, Eva; Sláma, Tomáš; von der Weid, Nicolas; Kuehni, Claudia E; Kurmann, Reto D; Schindera, Christina

The PROTECT trial: Effect of titrated versus conventional induction of general anaesthesia using a target-controlled infusion system on haemodynamics in patients undergoing non-cardiac surgery - protocol for a multicentre, expertise-based randomised controlled trial

PROTECT试验:采用靶控输注系统进行滴定与常规全身麻醉诱导对非心脏手术患者血流动力学的影响——一项多中心、基于专家经验的随机对照试验方案

Funk, Simon; Lohri, Martin Dominik; Kopp Lugli, Andrea; Schindler, Christian; Wiencierz, Andrea; Mnich, Kristian; Schläpfer, Martin; Gaberdiel, Alexander Peter; Puhan, Milo Alan; Steiner, Luzius A; Gomes, Nuno V; Dell-Kuster, Salome

PRECISION study: impact of personalised cardiac anaesthesia and cerebral autoregulation on neurological outcomes in patients undergoing cardiac surgery - protocol for an international, multicentre, prospective cohort study

PRECISION研究:个体化心脏麻醉和脑自动调节对接受心脏手术患者神经系统预后的影响——一项国际多中心前瞻性队列研究方案

Gomes, Nuno V; Edgar-Whelan, Harry; Beqiri, Erta; Young, Jim; Schindler, Christian; Gregor, Michael; Erb, Joachim M; Siegemund, Martin; Kuhle, Jens; Maleska Maceski, Aleksandra; Needham, Edward; Cichon, Sven; Burger, Bettina; Monsch, Andreas U; Hasemann, Wolfgang; Wüest, Alexandra; Fassl, Jens; Kaiser, Heiko A; Hight, Darren; Levis, Anja; Günsch, Dominik; Menon, David K; Czosnyka, Marek; Smielewski, Peter; Klein, Andrew A; Dell-Kuster, Salome; Steiner, Luzius A