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

Epigenome-wide DNA methylation profiling in aneurysmal subarachnoid hemorrhage and delayed ischemic neurologic deficit: a prospective observational study

表观基因组DNA甲基化谱分析在动脉瘤性蛛网膜下腔出血和迟发性缺血性神经功能缺损中的作用:一项前瞻性观察研究

Klepinowski, Tomasz; Przybyłowicz, Patrycja; Taryma-Leśniak, Olga; Bińkowski, Jan; Lisman, Dagmara; Ossowski, Andrzej; Jarosz, Konrad; Sawicki, Marcin; Poncyljusz, Wojciech; Taterra, Dominik; Łątka, Kajetan; Wojdacz, Tomasz K; Sagan, Leszek

Assessment of Essential and Toxic Element Levels in Endometrial and Ovarian Cancer

子宫内膜癌和卵巢癌中必需元素和毒性元素水平的评估

Ordon, Paweł; Boroń, Kacper; Bereza, Krzysztof; Boroń, Dariusz; Ossowski, Piotr; Sirek, Tomasz; Sirek, Agata; Kulej, Wojciech; Wyrobiec, Grzegorz; Grabarek, Beniamin Oskar

Clinical outcome of biomarker-guided therapies in adult neuro-oncology patients: An update from the Tübingen molecular tumor board cohort

生物标志物指导治疗在成人神经肿瘤患者中的临床结果:来自蒂宾根分子肿瘤委员会队列的最新进展

Rieger, David; Becker, Hannes; Walter, Bianca; Dörner, Lorenz; Kurz, Sylvia C; Niyazi, Maximilian; Bodensohn, Raphael; Neumann, Manuela; Rieß, Olaf; Schroeder, Christopher; Ballin, Nadja; Ott, Alexander; Roggia, Cristiana; Ossowski, Stephan; Fend, Falko; Singer, Stephan; Nahnsen, Sven; Kohlbacher, Oliver; Ernemann, Ulrike; Sundberg Malek, Holly; Schittenhelm, Jens; Bitzer, Michael; Malek, Nisar; Tatagiba, Marcos; Renovanz, Mirjam; Tabatabai, Ghazaleh

The optimal combinations of frequency and volume for improving physical performance, cognitive function and mental health in old individuals with possible sarcopenia: study protocol of a randomized controlled trial

针对可能患有肌肉减少症的老年人,研究改善其身体机能、认知功能和心理健康的最佳运动频率和运动量组合:一项随机对照试验的研究方案

Li, Xiao; Ossowski, Zbigniew; Pasek, Marcin; Jin, Peiyin; Chen, Yue; Li, Zhengyi; Jin, Bingzhan; Li, Kunpeng; Zhang, Yuzhen

Optimal type and dose of exercise to improve cognitive function in healthy and pre-sarcopenic older adults: a bayesian network meta-analysis of randomized controlled trials

改善健康老年人和肌少症前期老年人认知功能的最佳运动类型和剂量:一项基于随机对照试验的贝叶斯网络荟萃分析

Yang, Yong; Pan, Neng; Liu, Yufei; Xu, Weiqiang; Ossowski, Zbigniew

Dynamics of Haemostatic and Inflammatory Biomarkers in Patients with Combat-Related Injuries to Major Joints Before and After Surgical Treatment

战斗相关主要关节损伤患者手术治疗前后止血和炎症生物标志物的动态变化

Bondarenko, Stanislav; Alías Petralanda, Alfonso; Prudnikov, Yuriy; Grabarek, Beniamin Oskar; Boroń, Dariusz; Ossowski, Piotr; Filipenko, Volodymyr; Leontjeva, Frida; Tuljakov, Vladislav; Klymovytskyy, Fedir

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

出版商更正:对泛欧洲罕见病资源进行基因组重新分析,得出新的诊断结果

Laurie, Steven; Steyaert, Wouter; de Boer, Elke; Polavarapu, Kiran; Schuermans, Nika; Sommer, Anna K; Demidov, German; Ellwanger, Kornelia; Paramonov, Ida; Thomas, Coline; Aretz, Stefan; Baets, Jonathan; Benetti, Elisa; Bullich, Gemma; Chinnery, Patrick F; Clayton-Smith, Jill; Cohen, Enzo; Danis, Daniel; de Sainte Agathe, Jean-Madeleine; Denommé-Pichon, Anne-Sophie; Diaz-Manera, Jordi; Efthymiou, Stephanie; Faivre, Laurence; Fernandez-Callejo, Marcos; Freeberg, Mallory; Garcia-Pelaez, José; Guillot-Noel, Lena; Haack, Tobias B; Hanna, Mike; Hengel, Holger; Horvath, Rita; Houlden, Henry; Jackson, Adam; Johansson, Lennart; Johari, Mridul; Kamsteeg, Erik-Jan; Kellner, Melanie; Kleefstra, Tjitske; Lacombe, Didier; Lochmüller, Hanns; López-Martín, Estrella; Macaya, Alfons; Marcé-Grau, Anna; Maver, Aleš; Morsy, Heba; Muntoni, Francesco; Musacchia, Francesco; Nelson, Isabelle; Nigro, Vincenzo; Olimpio, Catarina; Oliveira, Carla; Paulasová Schwabová, Jaroslava; Pauly, Martje G; Peterlin, Borut; Peters, Sophia; Pfundt, Rolph; Piluso, Giulio; Piscia, Davide; Posada, Manuel; Reich, Selina; Renieri, Alessandra; Ryba, Lukas; Šablauskas, Karolis; Savarese, Marco; Schöls, Ludger; Schütz, Leon; Steinke-Lange, Verena; Stevanin, Giovanni; Straub, Volker; Sturm, Marc; Swertz, Morris A; Tartaglia, Marco; Te Paske, Iris B A W; Thompson, Rachel; Torella, Annalaura; Trainor, Christina; Udd, Bjarne; Van de Vondel, Liedewei; van de Warrenburg, Bart; van Reeuwijk, Jeroen; Vandrovcova, Jana; Vitobello, Antonio; Vos, Janet; Vyhnálková, Emílie; Wijngaard, Robin; Wilke, Carlo; William, Doreen; Xu, Jishu; Yaldiz, Burcu; Zalatnai, Luca; Zurek, Birte; Brookes, Anthony J; Evangelista, Teresinha; Gilissen, Christian; Graessner, Holm; Hoogerbrugge, Nicoline; Ossowski, Stephan; Riess, Olaf; Schüle, Rebecca; Synofzik, Matthis; Verloes, Alain; Matalonga, Leslie; Brunner, Han G; Lohmann, Katja; de Voer, Richarda M; Töpf, Ana; Vissers, Lisenka E L M; Beltran, Sergi; Hoischen, Alexander

Genetic Alterations, Therapy Response, and Survival Among Patients With Triple-Negative Breast Cancer: A Secondary Analysis of a Randomized Clinical Trial

三阴性乳腺癌患者的基因改变、治疗反应和生存率:一项随机临床试验的二次分析

Richters, Lisa; Gluz, Oleg; Weber-Lassalle, Nana; Christgen, Matthias; Haverkamp, Heinz; Kuemmel, Sherko; Kayali, Mohamad; Kates, Ronald E; Grischke, Eva-Maria; Altmüller, Janine; Forstbauer, Helmut; Thiele, Holger; Braun, Michael; Warm, Mathias; Ossowski, Anna; Wuerstlein, Rachel; Ernst, Corinna; Graeser, Monika; Linn, Sabine C; Nitz, Ulrike; Hauke, Jan; Kreipe, Hans Heinrich; Schmutzler, Rita K; Hahnen, Eric; Harbeck, Nadia

P05.19.A CLINICAL OUTCOME OF BIOMARKER-GUIDED THERAPIES IN ADULT NEURO-ONCOLOGY PATIENTS: AN UPDATE FROM THE TÜBINGEN MOLECULAR TUMOR BOARD COHORT

P05.19.A 生物标志物指导治疗在成人神经肿瘤患者中的临床结果:来自蒂宾根分子肿瘤委员会队列的最新进展

Horgan, Denis; Paulson, Joseph N; Loaiza-Bonilla, Arturo; Svedman, Christer; Malapelle, Umberto; Penault-Llorca, Frédérique; Rahsheed, Hadi Mohamad Abu; Hofman, Paul; Kachnowski, Stan; Schneider, Daniel; Subbiah, Vivek; Rieger, D; Becker, H; Walter, B; Doerner, L; Kurz, S; Gani, C; Neumann, M; Rieß, O; Schroeder, C; Ossowski, S; Fend, F; Singer, S; Nahnsen, S; Ernemann, U; Sundberg-Malek, H; Schittenhelm, J; Bitzer, M; Malek, N; Tatagiba, M; Renovanz, M; Tabatabai, G