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

Vascular and Neural Transcriptomics Reveal Stage-Dependent Pathways to Inflammation and Cognitive Dysfunction in a Rat Model of Hypertension

血管和神经转录组学揭示高血压大鼠模型中炎症和认知功能障碍的阶段依赖性通路

Arndt, Philipp; Morton, Lorena; Briese, Michael; Lämmlin, Naomi; Mattern, Hendrik; Hasanuzzaman, Md; Westhues, Melina; Khoshneviszadeh, Mahsima; Appenzeller, Silke; Gündel, Daniel; Toussaint, Magali; Brust, Peter; Kniess, Torsten; Oelschlegel, Anja; Goldschmidt, Jürgen; Meuth, Sven; Müller, Patrick; Braun-Dullaeus, Rüdiger; Debska-Vielhaber, Grazyna; Vielhaber, Stefan; Becker, Axel; Dityatev, Alexander; Henneicke, Solveig; Sendtner, Michael; Dunay, Ildiko; Schreiber, Stefanie

The genetic landscape of sporadic adult-onset degenerative ataxia: a multi-modal genetic study of 377 consecutive patients from the longitudinal multi-centre SPORTAX cohort

散发性成人起病退行性共济失调的遗传图谱:来自纵向多中心 SPORTAX 队列的 377 例连续患者的多模式遗传学研究

Beijer, Danique; Mengel, David; Önder, Demet; Wilke, Carlo; Traschütz, Andreas; Faber, Jennifer; Timmann, Dagmar; Boesch, Sylvia; Vielhaber, Stefan; Klopstock, Thomas; van de Warrenburg, Bart P; Silvestri, Gabriella; Kamm, Christoph; Wedding, Iselin Marie; Fleszar, Zofia; Harmuth, Florian; Dufke, Claudia; Brais, Bernard; Rieß, Olaf; Schöls, Ludger; Haack, Tobias; Züchner, Stephan; Pellerin, David; Klockgether, Thomas; Synofzik, Matthis

Pericytes and Extracellular Vesicle Interactions in Neurovascular Adaptation to Chronic Arterial Hypertension.

周细胞和细胞外囊泡相互作用在神经血管适应慢性动脉高血压中的作用

Morton Lorena, Garza Alejandra P, Debska-Vielhaber Grazyna, Villafuerte Luis E, Henneicke Solveig, Arndt Philipp, Meuth Sven G, Schreiber Stefanie, Dunay Ildiko R

A systematic review of progranulin concentrations in biofluids in over 7,000 people-assessing the pathogenicity of GRN mutations and other influencing factors

对超过7000人生物体液中前粒蛋白浓度进行系统性回顾——评估GRN基因突变的致病性及其他影响因素

Swift, Imogen J; Rademakers, Rosa; Finch, NiCole; Baker, Matt; Ghidoni, Roberta; Benussi, Luisa; Binetti, Giuliano; Rossi, Giacomina; Synofzik, Matthis; Wilke, Carlo; Mengel, David; Graff, Caroline; Takada, Leonel T; Sánchez-Valle, Raquel; Antonell, Anna; Galimberti, Daniela; Fenoglio, Chiara; Serpente, Maria; Arcaro, Marina; Schreiber, Stefanie; Vielhaber, Stefan; Arndt, Philipp; Santana, Isabel; Almeida, Maria Rosario; Moreno, Fermín; Barandiaran, Myriam; Gabilondo, Alazne; Stubert, Johannes; Gómez-Tortosa, Estrella; Agüero, Pablo; Sainz, M José; Gohda, Tomohito; Murakoshi, Maki; Kamei, Nozomu; Kittel-Schneider, Sarah; Reif, Andreas; Weigl, Johannes; Jian, Jinlong; Liu, Chuanju; Serrero, Ginette; Greither, Thomas; Theil, Gerit; Lohmann, Ebba; Gazzina, Stefano; Bagnoli, Silvia; Coppola, Giovanni; Bruni, Amalia; Quante, Mirja; Kiess, Wieland; Hiemisch, Andreas; Jurkutat, Anne; Block, Matthew S; Carlson, Aaron M; Bråthen, Geir; Sando, Sigrid Botne; Grøntvedt, Gøril Rolfseng; Lauridsen, Camilla; Heslegrave, Amanda; Heller, Carolin; Abel, Emily; Gómez-Núñez, Alba; Puey, Roger; Arighi, Andrea; Rotondo, Enmanuela; Jiskoot, Lize C; Meeter, Lieke H H; Durães, João; Lima, Marisa; Tábuas-Pereira, Miguel; Lemos, João; Boeve, Bradley; Petersen, Ronald C; Dickson, Dennis W; Graff-Radford, Neill R; LeBer, Isabelle; Sellami, Leila; Lamari, Foudil; Clot, Fabienne; Borroni, Barbara; Cantoni, Valentina; Rivolta, Jasmine; Lleó, Alberto; Fortea, Juan; Alcolea, Daniel; Illán-Gala, Ignacio; Andres-Cerezo, Lucie; Van Damme, Philip; Clarimon, Jordi; Steinacker, Petra; Feneberg, Emily; Otto, Markus; van der Ende, Emma L; van Swieten, John C; Seelaar, Harro; Zetterberg, Henrik; Sogorb-Esteve, Aitana; Rohrer, Jonathan D

Neuropsychiatric symptoms and lifelong mental activities in cerebral amyloid angiopathy - a cross-sectional study

脑淀粉样血管病患者的神经精神症状和终生精神活动——一项横断面研究

Dörner, Marc; Tyndall, Anthony; Hainc, Nicolin; von Känel, Roland; Neumann, Katja; Euler, Sebastian; Schreiber, Frank; Arndt, Philipp; Fuchs, Erelle; Garz, Cornelia; Glanz, Wenzel; Butryn, Michaela; Schulze, Jan Ben; Schiebler, Sarah Lavinia Florence; John, Anna-Charlotte; Hildebrand, Annkatrin; Hofmann, Andreas B; Machetanz, Lena; Kirchebner, Johannes; Tacik, Pawel; Grimm, Alexander; Jansen, Robin; Pawlitzki, Marc; Henneicke, Solveig; Bernal, Jose; Perosa, Valentina; Düzel, Emrah; Meuth, Sven G; Vielhaber, Stefan; Mattern, Hendrik; Schreiber, Stefanie

Risk factors for intracerebral hemorrhage in small-vessel disease and non-small-vessel disease etiologies-an observational proof-of-concept study

小血管病和非小血管病病因导致脑出血的危险因素——一项观察性概念验证研究

Arndt, Philipp; Chahem, Christian; Luchtmann, Michael; Kuschel, Jan-Niklas; Behme, Daniel; Pfister, Malte; Neumann, Jens; Görtler, Michael; Dörner, Marc; Pawlitzki, Marc; Jansen, Robin; Meuth, Sven G; Vielhaber, Stefan; Henneicke, Solveig; Schreiber, Stefanie

Multimodal layer modelling reveals in vivo pathology in amyotrophic lateral sclerosis

多模态层建模揭示肌萎缩侧索硬化症的体内病理

Northall, Alicia; Doehler, Juliane; Weber, Miriam; Tellez, Igor; Petri, Susanne; Prudlo, Johannes; Vielhaber, Stefan; Schreiber, Stefanie; Kuehn, Esther

The brain reacting to COVID-19: analysis of the cerebrospinal fluid proteome, RNA and inflammation

大脑对 COVID-19 的反应:脑脊液蛋白质组、RNA 和炎症的分析

Dirk Reinhold #, Vadim Farztdinov #, Yan Yan #, Christian Meisel, Henrik Sadlowski, Joachim Kühn, Frank H Perschel, Matthias Endres, Emrah Düzel, Stefan Vielhaber, Karina Guttek, Alexander Goihl, Morten Venø, Bianca Teegen, Winfried Stöcker, Paula Stubbemann, Florian Kurth, Leif E Sander, Markus Ral

Classifying flow cytometry data using Bayesian analysis helps to distinguish ALS patients from healthy controls

利用贝叶斯分析对流式细胞术数据进行分类有助于区分肌萎缩侧索硬化症(ALS)患者和健康对照组。

Räuber, Saskia; Nelke, Christopher; Schroeter, Christina B; Barman, Sumanta; Pawlitzki, Marc; Ingwersen, Jens; Akgün, Katja; Günther, Rene; Garza, Alejandra P; Marggraf, Michaela; Dunay, Ildiko Rita; Schreiber, Stefanie; Vielhaber, Stefan; Ziemssen, Tjalf; Melzer, Nico; Ruck, Tobias; Meuth, Sven G; Herty, Michael