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

Photoactivation of [FeFe] Hydrogenase Studied by Multiscale Time-Resolved Infrared Spectroscopy

利用多尺度时间分辨红外光谱研究[FeFe]氢化酶的光活化

Kobeleva, Elizaveta; Khalil, Malin; Lachmann, Manon T; Malakar, Partha; Bhattacharya, Sayantan; Greetham, Gregory M; Rodriguez-Maciá, Patricia; Birrell, James A; Horch, Marius

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

Alterations in MRI-visible perivascular spaces precede dementia diagnosis by 18 years in autosomal dominant Alzheimer's disease

在常染色体显性遗传阿尔茨海默病中,MRI可见的血管周围间隙改变比痴呆诊断早18年。

Leone, Riccardo; Kobeleva, Xenia; Rowe, Bryan; Choupan, Jeiran; Ringman, John M; Barisano, Giuseppe

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

将新一代表型分析技术整合到国家级框架中,用于治疗罕见病患者,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

Beyond Focal Lesions: Dynamical Network Effects of White Matter Hyperintensities

超越局灶性病变:白质高信号的动态网络效应

Leone, Riccardo; Geysen, Steven; Deco, Gustavo; Kobeleva, Xenia

Whole-brain modeling of the differential influences of amyloid-beta and tau in Alzheimer's disease

阿尔茨海默病中β-淀粉样蛋白和tau蛋白差异性影响的全脑建模

Patow, Gustavo; Stefanovski, Leon; Ritter, Petra; Deco, Gustavo; Kobeleva, Xenia

Advancing brain network models to reconcile functional neuroimaging and clinical research

推进脑网络模型以协调功能性神经影像学和临床研究

Kobeleva, Xenia; Varoquaux, Gaël; Dagher, Alain; Adhikari, Mohit; Grefkes, Christian; Gilson, Matthieu

Brainhack: Developing a culture of open, inclusive, community-driven neuroscience

Brainhack:发展一种开放、包容、社区驱动的神经科学文化

Gau, Rémi; Noble, Stephanie; Heuer, Katja; Bottenhorn, Katherine L; Bilgin, Isil P; Yang, Yu-Fang; Huntenburg, Julia M; Bayer, Johanna M M; Bethlehem, Richard A I; Rhoads, Shawn A; Vogelbacher, Christoph; Borghesani, Valentina; Levitis, Elizabeth; Wang, Hao-Ting; Van Den Bossche, Sofie; Kobeleva, Xenia; Legarreta, Jon Haitz; Guay, Samuel; Atay, Selim Melvin; Varoquaux, Gael P; Huijser, Dorien C; Sandström, Malin S; Herholz, Peer; Nastase, Samuel A; Badhwar, AmanPreet; Dumas, Guillaume; Schwab, Simon; Moia, Stefano; Dayan, Michael; Bassil, Yasmine; Brooks, Paula P; Mancini, Matteo; Shine, James M; O'Connor, David; Xie, Xihe; Poggiali, Davide; Friedrich, Patrick; Heinsfeld, Anibal S; Riedl, Lydia; Toro, Roberto; Caballero-Gaudes, César; Eklund, Anders; Garner, Kelly G; Nolan, Christopher R; Demeter, Damion V; Barrios, Fernando A; Merchant, Junaid S; McDevitt, Elizabeth A; Oostenveld, Robert; Craddock, R Cameron; Rokem, Ariel; Doyle, Andrew; Ghosh, Satrajit S; Nikolaidis, Aki; Stanley, Olivia W; Uruñuela, Eneko

Centering inclusivity in the design of online conferences-An OHBM-Open Science perspective

在在线会议设计中以包容性为中心——OHBM-开放科学视角

Levitis, Elizabeth; van Praag, Cassandra D Gould; Gau, Rémi; Heunis, Stephan; DuPre, Elizabeth; Kiar, Gregory; Bottenhorn, Katherine L; Glatard, Tristan; Nikolaidis, Aki; Whitaker, Kirstie Jane; Mancini, Matteo; Niso, Guiomar; Afyouni, Soroosh; Alonso-Ortiz, Eva; Appelhoff, Stefan; Arnatkeviciute, Aurina; Atay, Selim Melvin; Auer, Tibor; Baracchini, Giulia; Bayer, Johanna M M; Beauvais, Michael J S; Bijsterbosch, Janine D; Bilgin, Isil P; Bollmann, Saskia; Bollmann, Steffen; Botvinik-Nezer, Rotem; Bright, Molly G; Calhoun, Vince D; Chen, Xiao; Chopra, Sidhant; Chuan-Peng, Hu; Close, Thomas G; Cookson, Savannah L; Craddock, R Cameron; De La Vega, Alejandro; De Leener, Benjamin; Demeter, Damion V; Di Maio, Paola; Dickie, Erin W; Eickhoff, Simon B; Esteban, Oscar; Finc, Karolina; Frigo, Matteo; Ganesan, Saampras; Ganz, Melanie; Garner, Kelly G; Garza-Villarreal, Eduardo A; Gonzalez-Escamilla, Gabriel; Goswami, Rohit; Griffiths, John D; Grootswagers, Tijl; Guay, Samuel; Guest, Olivia; Handwerker, Daniel A; Herholz, Peer; Heuer, Katja; Huijser, Dorien C; Iacovella, Vittorio; Joseph, Michael J E; Karakuzu, Agah; Keator, David B; Kobeleva, Xenia; Kumar, Manoj; Laird, Angela R; Larson-Prior, Linda J; Lautarescu, Alexandra; Lazari, Alberto; Legarreta, Jon Haitz; Li, Xue-Ying; Lv, Jinglei; Mansour L, Sina; Meunier, David; Moraczewski, Dustin; Nandi, Tulika; Nastase, Samuel A; Nau, Matthias; Noble, Stephanie; Norgaard, Martin; Obungoloch, Johnes; Oostenveld, Robert; Orchard, Edwina R; Pinho, Ana Luísa; Poldrack, Russell A; Qiu, Anqi; Raamana, Pradeep Reddy; Rokem, Ariel; Rutherford, Saige; Sharan, Malvika; Shaw, Thomas B; Syeda, Warda T; Testerman, Meghan M; Toro, Roberto; Valk, Sofie L; Van Den Bossche, Sofie; Varoquaux, Gaël; Váša, František; Veldsman, Michele; Vohryzek, Jakub; Wagner, Adina S; Walsh, Reubs J; White, Tonya; Wong, Fu-Te; Xie, Xihe; Yan, Chao-Gan; Yang, Yu-Fang; Yee, Yohan; Zanitti, Gaston E; Van Gulick, Ana E; Duff, Eugene; Maumet, Camille