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

Complement C4d Informs the Differential Diagnosis of Inflammatory Demyelinating CNS Diseases

补体C4d有助于鉴别诊断炎症性脱髓鞘性中枢神经系统疾病

Landt, Carolin; Held, Friederike; Kolotourou, Konstantina; Guranda, Mihaela; Vakrakou, Aigli G; Franz, Jonas; Thomas, Carolina; Schmiedeknecht, Max Ulrich Heiner; Bergann, Klaus; Wrzos, Claudia; Endmayr, Verena; Tsaktanis, Thanos; Zechel, Sabrina; Ancău, Mihai; Misgeld, Thomas; Hakroush, Samy; Hametner, Simon; Rothhammer, Veit; Höftberger, Romana; Hemmer, Bernhard; Stadelmann, Christine; Nessler, Stefan

Temporal Patterns of Fever Onset as an Indicator of Etiology in Intracerebral Hemorrhage

发热发作的时间模式作为脑出血病因的指标

Hess, Felix; Baki, Enayatullah; McGinnis, Julian; Wiltgen, Tun; Scholz, Hannah; Bernkopf, Kathleen; Schneider, Gerhard; Kirschke, Jan; Sepp, Dominik; Hemmer, Bernhard; Wunderlich, Silke; Mühlau, Mark

Prognostic Factors for Multiple Sclerosis Symptoms in Radiologically Isolated Syndrome

放射学孤立综合征中多发性硬化症状的预后因素

Fissolo, Nicolás; Schaedelin, Sabine; Villar, Luisa M; Lünemann, Jan D; Correale, Jorge; Rejdak, Konrad; Schwab, Nicholas; Vilaseca, Andreu; Held, Friederike; García-Merino, Antonio; Bittner, Stefan; Trojano, María; Furlan, Roberto; Tumani, Hayrettin; Pérez-Miralles, Francisco; Rosenstein, Igal; Galimberti, Daniela; Álvarez-Bravo, Gary; Thouvenot, Eric; Llufriu, Sara; Khoury, Samia J; Hoepner, Robert; Martínez-Yélamos, Sergio; Hegen, Harald; Drulovic, Jelena; Téllez-Lara, Neus; Khalil, Michael; Oechtering, Johanna; Pérez-Sempere, Ángel; Rodríguez-Antigüedad, Alfredo; Enrique-Martínez, José; Strijbis, Eva; Killestein, Joep; Eichau, Sara; Colombo, Elena; Schaller-Nagengast, Jonas; Midaglia, Luciana; Sánchez-López, Antonio J; Monreal, Enric; Chan, Andrew; Paul, Friedemann; Rovira, Àlex; Tintoré, Mar; Lycke, Jan; Zipp, Frauke; Hemmer, Bernhard; Kuhle, Jens; Montalban, Xavier; Comabella, Manuel

Proteomics Reveals Age as Major Modifier of Inflammatory CSF Signatures in Multiple Sclerosis

蛋白质组学揭示年龄是多发性硬化症中炎症性脑脊液特征的主要调节因素

Held, Friederike; Makarov, Christine; Gasperi, Christiane; Flaskamp, Martina; Grummel, Verena; Berthele, Achim; Hemmer, Bernhard

Predictors of early disability accumulation in newly diagnosed multiple sclerosis: clinical, imaging and cerebrospinal fluid measures

新诊断多发性硬化症早期残疾累积的预测因素:临床、影像学和脑脊液指标

Lauerer, Markus; Wiltgen, Tun; Brückner, Carolin; Engl, Christina; Giglhuber, Katrin; Lambrecht, Sebastian; Pongratz, Viola; Berthele, Achim; Gasperi, Christiane; Kirschke, Jan S; Zimmer, Claus; Hemmer, Bernhard; Mühlau, Mark

Blood biomarkers for predicting disability worsening in progressive multiple sclerosis: a multinational, individual participant-level analysis

用于预测进行性多发性硬化症残疾恶化的血液生物标志物:一项多国个体参与者水平分析

Abdelhak, Ahmed; Bachhuber, Franziska; Ning, Kiarra; Benkert, Pascal; John Boscardin, W; Maleska Maceski, Aleksandra; Schaedelin, Sabine; Achtnichts, Lutz; Finkener, Sebastian; Lalive, Patrice H; Uginet, Marjolaine; Pot, Caroline; Du Pasquier, Renaud; Hoepner, Robert; Chan, Andrew; Gobbi, Claudio; Zecca, Chiara; Müller, Stefanie; Roth, Patrick; Granziera, Cristina; Chitnis, Tanuja; Madill, Evan; Weiner, Howard L; Green, Ari J; Hauser, Stephen L; Cree, Bruce Ac; Kümpfel, Tania; Havla, Joachim; Skripuletz, Thomas; Gingele, Stefan; Senel, Makbule; Vardakas, Ioannis; Taranu, Daniela; Ziemann, Ulf; Kowarik, Markus C; Kleiter, Ingo; Hoshi, Muna-Miriam; Zettl, Uwe K; Haarmann, Axel; Thebault, Simon; Freedman, Mark S; Bergman, Hailey P; Iacobaeus, Ellen; Khademi, Mohsen; Ferraro, Diana; Cardi, Martina; Mariotto, Sara; Comabella, Manuel; Montalban, Xavier; Vilaseca-Jolonch, Andreu; Strijbis, Eva M; Wessels, Mark Hj; Killestein, Joep; Hemmer, Bernhard; Held, Friederike; Sellebjerg, Finn; Højsgaard Chow, Helene; Alvarez-Lafuente, Roberto; Domínguez-Mozo, Maria Inmaculada; Hegen, Harald; Berek, Klaus; Deisenhammer, Florian; Thouvenot, Eric; Agherbi, Hanane; Rejdak, Konrad; Gąsior, Magda; Tzanetakos, Dimitrios; Tzartos, John S; Sormani, Maria Pia; Dujmovic Basuroski, Irena; Arrambide, Georgina; Khalil, Michael; Piehl, Fredrik; Teunissen, Charlotte E; Kuhle, Jens; Tumani, Hayrettin

Genetic Risk Variants for Multiple Sclerosis and Other Loci Linked to Intrathecal Immunoglobulin G Synthesis

多发性硬化症的遗传风险变异及其他与鞘内免疫球蛋白G合成相关的基因位点

Pukaj, Albert; Harroud, Adil; Shchetynsky, Klementy; Wirsching, Laura; Peters, Lucy; Andlauer, Till F M; Pääkkönen, Kimmo; Bos, Steffan D; Moylett, Sinéad; Dubois, Bénédicte; Llufriu, Sara; Luessi, Felix; Tackenberg, Björn; Kowarik, Markus C; Then Bergh, Florian; Trebst, Corinna; Tumani, Hayrettin; Wildemann, Brigitte; Bayas, Antonios; Havla, Joachim; Kümpfel, Tania; Knop, Matthias; Genetics Center, Regeneron; Stridh, Pernilla; Hillert, Jan A; Olsson, Tomas; Alfredsson, Lars; Cotsapas, Chris; Flinstad Harbo, Hanne; Zipp, Frauke; Saarela, Janna; Baranzini, Sergio E; Berthele, Achim; Kockum, Ingrid; Hemmer, Bernhard; Gasperi, Christiane

Real-World Laboratory Analysis of Molecular Biomarkers in Multiple Sclerosis Centers in Central-Eastern European Countries Covering 107 Million Inhabitants

对覆盖中东欧1.07亿人口的多发性硬化症中心进行分子生物标志物的真实世界实验室分析

Járdánházy, Anett; Berger, Thomas; Hegen, Harald; Hemmer, Bernhard; Bartosik-Psujek, Halina; Kes, Vanja Basic; Berthele, Achim; Drulovic, Jelena; Habek, Mario; Horakova, Dana; Ledinek, Alenka Horvat; Havrdova, Eva Kubala; Magyari, Melinda; Rejdak, Konrad; Tiu, Cristina; Turcani, Peter; Bencsik, Krisztina; Kincses, Zsigmond Tamás; Vécsei, László

Predictors of malignant swelling in space-occupying cerebellar infarction

小脑占位性梗死恶性肿胀的预测因素

Baki, Enayatullah; Baumgart, Lea; Kehl, Victoria; Hess, Felix; Wolff, Andreas Wolfgang; Wagner, Arthur; Hernandez Petzsche, Moritz Roman; Boeckh-Behrens, Tobias; Hemmer, Bernhard; Meyer, Bernhard; Gempt, Jens; Wunderlich, Silke