日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Treatment evolution in spinal muscular atrophy: insights from the SMArtCARE registry

脊髓性肌萎缩症治疗进展:来自SMArtCARE注册研究的启示

Voigt-Müller, Cornelia; Pfaffenlehner, Michelle; Bernert, Günther; Cetin, Hakan; Hagenacker, Tim; Kölbel, Heike; Lochmüller, Hanns; Pfeuffer, Christian; Vill, Katharina; Walter, Maggie C; Kirschner, Janbernd; Pechmann, Astrid

Correspondence of large-scale functional brain network decline across aging mice and humans

小鼠和人类衰老过程中大规模功能性脑网络衰退的对应关系

Winter-Nelson, Ezra; Bergmann, Eyal; Chan, Micaela Y; Vill, Gabriella; Han, Liang; Zhang, Ziwei; Kavushansky, Alexandra; Dolgopyat, Irit; Asleh, Jad; Whitesell, Jennifer D; Kahn, Itamar; Wig, Gagan S

Reinventing henna: Enzyme-catalysed colour release from stabilized Lawsonia inermis L. extracts

革新指甲花:酶催化释放稳定化散沫花提取物的颜色

Dallmann, Nele; Vill, Volkmar; Straske, Fabian

Personalized inhaled bacteriophage therapy for treatment of multidrug-resistant Pseudomonas aeruginosa in cystic fibrosis.

针对囊性纤维化患者,采用个性化吸入噬菌体疗法治疗多重耐药铜绿假单胞菌感染

Chan Benjamin K, Stanley Gail L, Kortright Kaitlyn E, Vill Albert C, Modak Mrinalini, Ott Isabel M, Sun Ying, Würstle Silvia, Grun Casey N, Kazmierczak Barbara I, Rajagopalan Govindarajan, Harris Zachary M, Britto Clemente J, Stewart Jill, Talwalkar Jaideep S, Appell Casey R, Chaudary Nauman, Jagpal Sugeet K, Jain Raksha, Kanu Adaobi, Quon Bradley S, Reynolds John M, Teneback Charlotte C, Mai Quynh-Anh, Shabanova Veronika, Turner Paul E, Koff Jonathan L

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

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.

基因组学和蛋白质组学相结合,揭示了肌张力障碍中难以捉摸的变异和巨大的病因异质性

Zech Michael, Dzinovic Ivana, Skorvanek Matej, Harrer Philip, Necpal Jan, Kopajtich Robert, Kittke Volker, Tilch Erik, Zhao Chen, Tsoma Eugenia, Sorrentino Ugo, Indelicato Elisabetta, Stehr Antonia, Saparov Alice, Abela Lucia, Adamovicova Miriam, Afenjar Alexandra, Assmann Birgit, Baloghova Janette, Baumann Matthias, Berutti Riccardo, Brezna Zuzana, Brugger Melanie, Brunet Theresa, Cogne Benjamin, Colangelo Isabel, Conboy Erin, Distelmaier Felix, Eckenweiler Matthias, Garavaglia Barbara, Geerlof Arie, Graf Elisabeth, Hackenberg Annette, Harvanova Denisa, Haslinger Bernhard, Havrankova Petra, Hoffmann Georg F, Janzarik Wibke G, Keren Boris, Kolnikova Miriam, Kolokotronis Konstantinos, Kosutzka Zuzana, Koy Anne, Krenn Martin, Krygier Magdalena, Kusikova Katarina, Maier Oliver, Meitinger Thomas, Mertes Christian, Milenkovic Ivan, Monfrini Edoardo, Santos Dias Mourao Andre, Musacchio Thomas, Nizon Mathilde, Ostrozovicova Miriam, Pavlov Martin, Prihodova Iva, Rektorova Irena, Romito Luigi M, Rybanska Barbora, Sadr-Nabavi Ariane, Schwenger Susanne, Shoeibi Ali, Sitzberger Alexandra, Smirnov Dmitrii, Svantnerova Jana, Tautanova Raushana, Toelle Sandra P, Ulmanova Olga, Vetrini Francesco, Vill Katharina, Wagner Matias, Weise David, Zorzi Giovanna, Di Fonzo Alessio, Oexle Konrad, Berweck Steffen, Mall Volker, Boesch Sylvia, Schormair Barbara, Prokisch Holger, Jech Robert, Winkelmann Juliane

Distinct pathogenic mutations in ARF1 allow dissection of its dual role in cGAS-STING signalling.

ARF1 中不同的致病突变可以揭示其在 cGAS-STING 信号传导中的双重作用

Lang Johannes, Bergner Tim, Zinngrebe Julia, Lepelley Alice, Vill Katharina, Leiz Steffen, Wlaschek Meinhard, Wagner Matias, Scharffetter-Kochanek Karin, Fischer-Posovszky Pamela, Read Clarissa, Crow Yanick J, Hirschenberger Maximilian, Sparrer Konstantin M J

Trio Exome Sequencing in VACTERL Association

VACTERL 关联中的三重外显子组测序

Ćomić, Jasmina; Tilch, Erik; Riedhammer, Korbinian M; Brugger, Melanie; Brunet, Theresa; Eyring, Katharina; Vill, Katharina; Redler, Silke; Tasic, Velibor; Schmiedeke, Eberhard; Schäfer, Frank-Mattias; Abazi-Emini, Nora; Jenetzky, Ekkehart; Schwarzer, Nicole; Widenmann, Anke; Lacher, Martin; Zech, Michael; Grasshoff-Derr, Sabine; Geßner, Michaela; Kabs, Carmen; Seitz, Barbara; Heydweiller, Andreas C; Muensterer, Oliver; Lange-Sperandio, Bärbel; Rolle, Udo; Schumacher, Johannes; Braunisch, Matthias C; Berutti, Riccardo; Reutter, Heiko; Hoefele, Julia

Controlled Silver Nanoparticle Formation in Hair Fibers Dyed with Reseda luteola L.: A Study on Additive-Dependent Penetration and Aggregation

利用木犀草染色的头发纤维控制银纳米粒子的形成:添加剂依赖性渗透和聚集的研究

Hachmann, Julia Katharina; Ruhmlieb, Charlotte; Vill, Volkmar; Straske, Fabian

Biosynthesis and Fatty Acid- and Cation-Binding Properties of Mycobacterium tuberculosis Methylglucose Lipopolysaccharides

结核分枝杆菌甲基葡萄糖脂多糖的生物合成及其脂肪酸和阳离子结合特性

Grzegorzewicz, Anna E; Bui, Duong T; De, Prithwiraj; Kitova, Elena N; Belardinelli, Juan M; Angala, Shiva Kumar; Palčeková, Zuzana; Vill, Kristin; Kalscheuer, Rainer; Klassen, John S; Jackson, Mary