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

Myocardial Late Enhancement With Photon-Counting Detector CT in Spontaneous Coronary Artery Dissection: Prospective Comparison With Cardiac MRI

利用光子计数探测器CT对自发性冠状动脉夹层进行心肌延迟增强成像:与心脏磁共振成像的前瞻性比较

Klambauer, Konstantin; Klotz, Ernst; Moser, Lukas J; Kälin, Tobias; Biondo, Andrea; Schweiger, Victor; Mergen, Victor; Lisi, Costanza; Würdinger, Michael; Schlenker, Rabea; Di Vece, Davide; Gotschy, Alexander; Reiner, Martin; Ghadri, Jelena-R; Wilzeck, Verena C; Eberhard, Matthias; Templin, Christian; Manka, Robert; Alkadhi, Hatem

Ultra-high resolution photon-counting detector coronary CT angiography: diagnostic accuracy in patients with high Agatston scores

超高分辨率光子计数探测器冠状动脉CT血管造影:对Agatston评分高的患者诊断准确性

Demmert, Tristan T; Klambauer, Konstantin; Moser, Lukas J; Michel, Jonathan; Kasel, Markus; Manka, Robert; Mergen, Victor; Flohr, Thomas; Eberhard, Matthias; Alkadhi, Hatem

Photoelectrochemical hydrogen production: a comparative and bibliometric analysis of metal-organic frameworks and perovskites

光电化学制氢:金属有机框架和钙钛矿的比较和文献计量分析

Yaou Balarabe, Bachir; Marycleopha, Manka; Adjama, Irédon; Adamou, Rabani; Yaou Balarabe, Abdou; Moussa, Hassimi

Highlights from the first interdisciplinary summit of the European Association of Cardiovascular Imaging and the European Society for Cardiovascular Radiology

欧洲心血管影像协会和欧洲心血管放射学会首届跨学科峰会亮点

Vliegenthart, Rozemarijn; Baritussio, Anna; Budde, Ricardo P J; Pontone, Gianluca; van Assen, Marly; Dacher, Jean-Nicolas; Danad, Ibrahim; Delgado, Victoria; Dweck, Marc R; van der Harst, Pim; Hirsch, Alexander; Huisman, Merel; Kozerke, Sebastian; Pezel, Théo; Pugliese, Francesca; Westwood, Mark; Williams, Michelle C; Paar, Maja Hrabak; Manka, Robert; Salgado, Rodrigo; Nijveldt, Robin

Genotype-phenotype correlations in patients with pathogenic/likely pathogenic titin variants from the Swiss Arrhythmogenic Cardiomyopathy Registry

瑞士致心律失常性心肌病登记处中致病性/可能致病性肌联蛋白变异患者的基因型-表型相关性

Schätti, Nina Alissa; Fokstuen, Siv; Medeiros-Domingo, Argelia; Maccio, Umberto; Nägele, Matthias P; Mikulicic, Fran; Flammer, Andreas J; Sazgary, Lorraine; Manka, Robert; Wilzeck, Verena Charlotte; Tanner, Felix; Grebmer, Christian; Vischer, Annina Salome; Odening, Katja E; Rieder, Marina; Ruschitzka, Frank; Brunckhorst, Corinna; Duru, Firat; Saguner, Ardan M; Bonetti, Nicole R

Hypertriglyceridemia Screening in Acute Pancreatitis: Diagnostic Blind Spot in Clinical Routine

急性胰腺炎高甘油三酯血症筛查:临床常规诊断中的盲点

Nashtar, Mohamad Amer; Kempener, Jan; Gohman, Uttban; Weninger, Jasmin; Kaya, Eda; Azizy, Obayda; Manka, Paul; Özcürümez, Mustafa; Patsalis, Polykarpos Christos; Canbay, Ali; Steinmetz, Martin

Rational and design of EACVI-MMVD study: an international registry on multimodality imaging for mixed and multiple valvular heart disease

EACVI-MMVD 研究的原理和设计:一项关于混合型和多瓣膜性心脏病多模态影像学的国际注册研究

Unger, Alexandre; Mandoli, Giulia Elena; Neglia, Danilo; Romero Dorta, Elena; Kagiyama, Nobuyuki; Borodzicz-Jazdzyk, Sonia; Velegraki, Eirini; Coisne, Augustin; Uygur, Begüm; Afana, Andreea; Florence, Jeremy; Bohbot, Yohann; Donal, Erwan; Clavel, Marie-Annick; Pibarot, Philippe; Unger, Philippe; Manka, Robert; Nijveldt, Robin; Gimelli, Alessia; Gerber, Bernhard; Dweck, Marc; Muraru, Denisa; Pontone, Gianluca; Ajmone Marsan, Nina; Timoteo, Ana Teresa; Toupin, Solenn; Pereira, Christine; Cosyns, Bernard; Vicaut, Eric; Delgado, Victoria; Petersen, Steffen; Pezel, Théo

Patient-reported outcomes: active surveillance vs radical therapies in low-risk prostate cancer

患者报告结局:低危前列腺癌的积极监测与根治性治疗

Al-Nader, Mulham; Kesch, Claudia; Mahmoud, Osama; Hadaschik, Boris A; Fichtner, Jan; Carl, Guenther; Feick, Günter; Burchardt, Martin; Zimmermanns, Volker; Prause, Lukas; Polat, Bülent; Blana, Andreas; Horstmann, Marcus; Saar, Matthias; Miglierini, Petra; Almansur, Kinan; Hefermehl, Lukas; Porres, Daniel; Peters, Inga; Wiens, Kristina; Palisaar, Rein Jüri; Winter, Alexander; Neisius, Andreas; Kunzmann, Eva-Maria; Harke, Nina Natascha; Bolenz, Christian; Albarghouth, Mohamad Hatem; Manka, Lukas; Kramer, Mario; Luger, Ferdinand; Knoll, Thomas; Pfitzenmaier, Jesco; Brock, Marko; Schittko, Julia; Sommer, Jens Peter; Reichert, Matthias; Lenart, Sebastian; Huber, Philipp; Hijazi, Sameh; Calderaro, Anna; Hermanns, Thomas; Tonhauser, Jens; Kowalski, Christoph; Sibert, Nora Tabea

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

作者更正:将新一代表型分析技术整合到国家层面的超罕见病患者诊疗框架中,可改进基因诊断并产生新的分子发现。

Schmidt, Axel; Danyel, Magdalena; Grundmann, Kathrin; Brunet, Theresa; Klinkhammer, Hannah; Hsieh, Tzung-Chien; Engels, Hartmut; Peters, Sophia; Knaus, Alexej; Moosa, Shahida; Averdunk, Luisa; Boschann, Felix; Sczakiel, Henrike Lisa; Schwartzmann, Sarina; Mensah, Martin Atta; Pantel, Jean Tori; Holtgrewe, Manuel; Bösch, Annemarie; Weiß, Claudia; Weinhold, Natalie; Suter, Aude-Annick; Stoltenburg, Corinna; Neugebauer, Julia; Kallinich, Tillmann; Kaindl, Angela M; Holzhauer, Susanne; Bührer, Christoph; Bufler, Philip; Kornak, Uwe; Ott, Claus-Eric; Schülke, Markus; Nguyen, Hoa Huu Phuc; Hoffjan, Sabine; Grasemann, Corinna; Rothoeft, Tobias; Brinkmann, Folke; Matar, Nora; Sivalingam, Sugirthan; Perne, Claudia; Mangold, Elisabeth; Kreiss, Martina; Cremer, Kirsten; Betz, Regina C; Mücke, Martin; Grigull, Lorenz; Klockgether, Thomas; Spier, Isabel; Heimbach, André; Bender, Tim; Brand, Fabian; Stieber, Christiane; Morawiec, Alexandra Marzena; Karakostas, Pantelis; Schäfer, Valentin S; Bernsen, Sarah; Weydt, Patrick; Castro-Gomez, Sergio; Aziz, Ahmad; Grobe-Einsler, Marcus; Kimmich, Okka; Kobeleva, Xenia; Önder, Demet; Lesmann, Hellen; Kumar, Sheetal; Tacik, Pawel; Bhasin, Meghna Ahuja; Incardona, Pietro; Lee-Kirsch, Min Ae; Berner, Reinhard; Schuetz, Catharina; Körholz, Julia; Kretschmer, Tanita; Di Donato, Nataliya; Schröck, Evelin; Heinen, André; Reuner, Ulrike; Hanßke, Amalia-Mihaela; Kaiser, Frank J; Manka, Eva; Munteanu, Martin; Kuechler, Alma; Cordula, Kiewert; Hirtz, Raphael; Schlapakow, Elena; Schlein, Christian; Lisfeld, Jasmin; Kubisch, Christian; Herget, Theresia; Hempel, Maja; Weiler-Normann, Christina; Ullrich, Kurt; Schramm, Christoph; Rudolph, Cornelia; Rillig, Franziska; Groffmann, Maximilian; Muntau, Ania; Tibelius, Alexandra; Schwaibold, Eva M C; Schaaf, Christian P; Zawada, Michal; Kaufmann, Lilian; Hinderhofer, Katrin; Okun, Pamela M; Kotzaeridou, Urania; Hoffmann, Georg F; Choukair, Daniela; Bettendorf, Markus; Spielmann, Malte; Ripke, Annekatrin; Pauly, Martje; Münchau, Alexander; Lohmann, Katja; Hüning, Irina; Hanker, Britta; Bäumer, Tobias; Herzog, Rebecca; Hellenbroich, Yorck; Westphal, Dominik S; Strom, Tim; Kovacs, Reka; Riedhammer, Korbinian M; Mayerhanser, Katharina; Graf, Elisabeth; Brugger, Melanie; Hoefele, Julia; Oexle, Konrad; Mirza-Schreiber, Nazanin; Berutti, Riccardo; Schatz, Ulrich; Krenn, Martin; Makowski, Christine; Weigand, Heike; Schröder, Sebastian; Rohlfs, Meino; Vill, Katharina; Hauck, Fabian; Borggraefe, Ingo; Müller-Felber, Wolfgang; Kurth, Ingo; Elbracht, Miriam; Knopp, Cordula; Begemann, Matthias; Kraft, Florian; Lemke, Johannes R; Hentschel, Julia; Platzer, Konrad; Strehlow, Vincent; Abou Jamra, Rami; Kehrer, Martin; Demidov, German; Beck-Wödl, Stefanie; Graessner, Holm; Sturm, Marc; Zeltner, Lena; Schöls, Ludger J; Magg, Janine; Bevot, Andrea; Kehrer, Christiane; Kaiser, Nadja; Turro, Ernest; Horn, Denise; Grüters-Kieslich, Annette; Klein, Christoph; Mundlos, Stefan; Nöthen, Markus; Riess, Olaf; Meitinger, Thomas; Krude, Heiko; Krawitz, Peter M; Haack, Tobias; Ehmke, Nadja; Wagner, Matias