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

A probiotic approach identifies a Treg-centred immunoregulation via modulation of gut microbiota metabolites in people with multiple sclerosis and healthy individuals

益生菌疗法通过调节肠道菌群代谢物,揭示了多发性硬化症患者和健康个体中以 Treg 为中心的免疫调节机制。

Constantin Träger ,Maria Kaiser ,David Freudenstein ,Simon Heckscher ,Katja Dettmer ,Peter J Oefner ,Gerhard Liebisch ,Andreas Hiergeist ,André Gessner ,De-Hyung Lee ,Klemens Angstwurm ,Ralf A Linker ,Stefanie Haase

Sepsis after trauma-evolving paradigms in stress biology and host response failure

创伤后脓毒症——应激生物学和宿主反应失败的演变范式

Dickmann, Petra; Claus, Ralf A; Bauer, Michael

Pre-existing parasympathetic dominance seems to cause persistent heart rate slowing after 6 months of fingolimod treatment in patients with multiple sclerosis

既往存在的副交感神经优势似乎会导致多发性硬化症患者在接受芬戈莫德治疗6个月后出现持续性心率减慢。

Hilz, Max J; Canavese, Francesca; de Rojas-Leal, Carmen; Lee, De-Hyung; Linker, Ralf A; Wang, Ruihao

Differential diagnoses of MS in clinical practice: incidence and methods for differential diagnosis

临床实践中多发性硬化症的鉴别诊断:发病率和鉴别诊断方法

Steinberg, Tim Johannes; Mayer, Lucie; Freudenstein, David; Müller, Karolina; Angstwurm, Klemens; Linker, Ralf A; Lee, De-Hyung

Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial

新生儿脊髓性肌萎缩症筛查的临床有效性:一项非随机对照试验

Schwartz, Oliver; Vill, Katharina; Pfaffenlehner, Michelle; Behrens, Max; Weiß, Claudia; Johannsen, Jessika; Friese, Johannes; Hahn, Andreas; Ziegler, Andreas; Illsinger, Sabine; Smitka, Martin; von Moers, Arpad; Kölbel, Heike; Schreiber, Gudrun; Kaiser, Nadja; Wilichowski, Ekkehard; Flotats-Bastardas, Marina; Husain, Ralf A; Baumann, Matthias; Köhler, Cornelia; Trollmann, Regina; Schwerin-Nagel, Annette; Eisenkölbl, Astrid; Schimmel, Mareike; Fleger, Martin; Kauffmann, Birgit; Wiegand, Gert; Baumgartner, Manuela; Rauscher, Christian; Cirak, Sebahattin; Gläser, Dieter; Bernert, Günther; Hagenacker, Tim; Goldbach, Susanne; Probst-Schendzielorz, Kristina; Lochmüller, Hanns; Müller-Felber, Wolfgang; Schara-Schmidt, Ulrike; Walter, Maggie C; Kirschner, Janbernd; Pechmann, Astrid

Targeted rescue of synaptic plasticity improves cognitive decline in sepsis-associated encephalopathy.

针对性地恢复突触可塑性可改善脓毒症相关性脑病患者的认知能力下降

Grünewald Benedikt, Wickel Jonathan, Hahn Nina, Rahmati Vahid, Rupp Hanna, Chung Ha-Yeun, Haselmann Holger, Strauss Anja S, Schmidl Lars, Hempel Nina, Grünewald Lena, Urbach Anja, Bauer Michael, Toyka Klaus V, Blaess Markus, Claus Ralf A, König Rainer, Geis Christian

Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease

mRNA 脱帽缺陷的双等位基因 NUDT2 变体可导致神经发育疾病

Ralf A Husain, Xinfu Jiao, J Christopher Hennings, Jan Giesecke, Geeta Palsule, Stefanie Beck-Wödl, Dina Osmanović, Kathrine Bjørgo, Asif Mir, Muhammad Ilyas, Saad M Abbasi, Stephanie Efthymiou, Natalia Dominik, Reza Maroofian, Henry Houlden, Julia Rankin, Alistair T Pagnamenta, Marwan Nashabat, Wal

Dietary galactose exacerbates autoimmune neuroinflammation via advanced glycation end product-mediated neurodegeneration

饮食中的半乳糖通过晚期糖基化终产物介导的神经退行性病变加剧自身免疫性神经炎症

Stefanie Haase #, Kristina Kuhbandner #, Florian Mühleck, Barbara Gisevius, David Freudenstein, Sarah Hirschberg, De-Hyung Lee, Stefanie Kuerten, Ralf Gold, Aiden Haghikia, Ralf A Linker

Key characteristics of anti-CD20 monoclonal antibodies and clinical implications for multiple sclerosis treatment

抗CD20单克隆抗体的关键特征及其在多发性硬化症治疗中的临床意义

Delgado, Silvia R; Faissner, Simon; Linker, Ralf A; Rammohan, Kottil