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

Patterns and Trajectories of Behavioral and Neuropsychiatric Symptoms in Frontotemporal Dementia and Primary Progressive Aphasia

额颞叶痴呆和原发性进行性失语症的行为和神经精神症状模式及轨迹

Marth, Lena; Martinez-Murcia, Francisco J; Górriz-Sáez, Juan-Manuel; Denecke, Jannis; Ewers, Michael; Prix, Catharina; Stockbauer, Anna Christina; Bernhardt, Alexander Maximilian; Wagemann, Olivia; Wlasich, Elisabeth; Kustermann, Julia; Peters, Oliver; Hellmann-Regen, Julian; Droste Zu Senden, Louise; Priller, Josef; Spruth, Eike Jakob; Spottke, Annika; Asperger, Hannah; Schroeck, Friederike; Gamez, Anna; Schneider, Anja; Fliessbach, Klaus; Dinter, Elisabeth; Linn, Jennifer; Günther, Rene; Wiltfang, Jens; Schott, Björn H; Bähr, Mathias; Zerr, Inga; Flöel, Agnes; Malinowski, Robert; Buerger, Katharina; Janowitz, Daniel; Duzel, Emrah; Glanz, Wenzel; Lüsebrink, Falk; Teipel, Stefan J; Kilimann, Ingo; Prudlo, Johannes; Hermann, Andreas; Synofzik, Matthis; Mengel, David; Beichert, Lukas; Müller, Doreen; Petzold, Gabor C; Yakupov, Renat; Hetzer, Stefan; Dechent, Peter; Scheffler, Klaus; Schönecker, Sonja; Levin, Johannes

Alterations in mitochondria and cellular senescence in aged sEH null female kidneys.

老年 sEH 基因敲除雌性肾脏中线粒体和细胞衰老的改变。

Yousef Ala, Fang Liye, Heidari Mobina, Huang Andy, Kondraciuk Patrick, Yee Kristen A, Mengel Michael, Seubert John M

Maternal and Fetal Outcomes in Imiglucerase-Treated Patients With Gaucher Disease: Real-World Evidence From the International Collaborative Gaucher Group (ICGG) Gaucher Registry Pregnancy Sub-Registry

伊米苷酶治疗戈谢病患者的母婴结局:来自国际戈谢病协作组(ICGG)戈谢病登记妊娠子登记的真实世界证据

Revel-Vilk, Shoshana; Deegan, Patrick; Day-Salvatore, Debra; Goker-Alpan, Ozlem; Mengel, Eugen; Batista, Julie L; Carwile, Jenny L; Perichon, Gabriela; Ficicioglu, Can

Clinical utility and prospective of TMS-EEG: Updated review from an international expert group

TMS-EEG的临床应用及前景:国际专家组的最新综述

Ziemann, Ulf; Bai, Yang; Baumer, Fiona M; Beck, Mikkel M; Belardinelli, Paolo; Belvisi, Daniele; Bender, Stephan; Bergmann, Til Ole; Bortoletto, Marta; Casarotto, Silvia; Casula, Elias; Chaves, Arthur R; de Andrade, Daniel Ciampi; Conte, Antonella; Daskalakis, Zafiris J; Farzan, Faranak; Ferrarelli, Fabio; Fitzgerald, Paul B; Gordon, Pedro C; Grefkes, Christian; Harquel, Sylvain; Hernandez-Pavon, Julio C; Hill, Aron T; Hoy, Kate E; Hummel, Friedhelm C; Julkunen, Petro; Kallioniemi, Elisa; Keller, Corey J; Kimiskidis, Vasilios K; Kirkovski, Melissa; Koch, Giacomo; Leodori, Giorgio; Lioumis, Pantelis; Määttä, Sara; Maidan, Inbal; Massimini, Marcello; Mengel, Annerose; Metsomaa, Johanna; Miniussi, Carlo; Mutanen, Tuomas P; Noda, Yoshihiro; Ozdemir, Recep A; Raffin, Estelle; Rocchi, Lorenzo; Rogasch, Nigel C; Rosanova, Mario; Santarnecchi, Emiliano; Sarasso, Simone; Schabrun, Siobhan M; Shafi, Mouhsin M; Siebner, Hartwig R; Tolner, Else A; Tomasevic, Leo; Tremblay, Sara; Tscherpel, Caroline; Veniero, Domenica; Versace, Viviana; Voineskos, Daphne; Vucic, Steve; Zangen, Abraham; Zrenner, Christoph; Ilmoniemi, Risto J

The Evolution of Molecular Phenotypes Through Time in Kidney Transplant Recipients

肾移植受者分子表型随时间演变

Baragar, Brigitte; Adam, Benjamin A; Mengel, Michael; Balshaw, Robert; Gibson, Ian W; Ho, Julie; Shaw, James; Karpinski, Martin; Trachtenberg, Aaron; Pochinco, Denise; Goldberg, Aviva; Birk, Patricia; Pinsk, Maury; Rush, David; Nickerson, Peter W; Wiebe, Chris

Early Prediction of Neurological Outcome After Cardiac Arrest-Rationale and Design of the Prospective International Observational EARLY-NEURO, a STEPCARE Substudy

心脏骤停后神经系统预后的早期预测——前瞻性国际观察性 EARLY-NEURO 研究(STEPCARE 子研究)的理论基础和设计

Moseby-Knappe, Marion; Westhall, Erik; Admiraal, Marjolein; Lang, Margareta; Levin, Helena; Hästbacka, Johanna; Tiainen, Marjaana; Skrifvars, Markus; Lilja, Gisela; Jacobsen, Janus C; Lagebrant, Alice; Wise, Matt; Reinikainen, Matti; Young, Paul; Saxena, Manoj; Schmidbauer, Simon; Hammond, Naomi; Bass, Frances; Ceric, Ameldina; Kamp, Caroline; Sillassen, Christina; Leithner, Christoph; Stammet, Pascal; Hilty, Matthias P; Wendel-Garcia, Pedro D; Royl, Georg; Graf, Tobias; Thomas, Matt; Sweet, Katie; Bendel, Stepani; Tirkkonen, Joonas; Mengel, Annerose; Stefanou, Maria-Ioanna; Romundstad, Luis Georg; Seidel, Philipp; Kåhlin, Jessica; Grip, Jonathan; Heinonen, Jonna; Jadav, Rakesh H; Nee, Jens; Nowak, Daniela; Hänggi, Matthias; Undén, Johan; Lybeck, Anna; Düring, Joachim; Kenda, Martin; Johnsson, Jesper; Nielsen, Niklas; Cronberg, Tobias

Genetics of monozygotic twins reveals the impact of environmental sensitivity on psychiatric and neurodevelopmental phenotypes

单卵双胞胎的遗传学研究揭示了环境敏感性对精神和神经发育表型的影响

Assary, Elham; Coleman, Jonathan R I; Hemani, Gibran; van de Weijer, Margot P; Howe, Laurence J; Palviainen, Teemu; Grasby, Katrina L; Ahlskog, Rafael; Nygaard, Marianne; Cheesman, Rosa; Lim, Kai; Reynolds, Chandra A; Ordoñana, Juan R; Colodro-Conde, Lucia; Gordon, Scott; Madrid-Valero, Juan J; Thalamuthu, Anbupalam; Hottenga, Jouke-Jan; Mengel-From, Jonas; Armstrong, Nicola J; Sachdev, Perminder S; Lee, Teresa; Brodaty, Henry; Trollor, Julian N; Wright, Margaret; Ames, David; Catts, Vibeke S; Latvala, Antti; Vuoksimaa, Eero; Mallard, Travis; Paige Harden, K; Tucker-Drob, Elliot M; Oskarsson, Sven; Hammond, Christopher J; Christensen, Kaare; Taylor, Mark; Lundström, Sebastian; Larsson, Henrik; Karlsson, Robert; Pedersen, Nancy L; Mather, Karen A; Medland, Sarah E; Boomsma, Dorret I; Martin, Nicholas G; Plomin, Robert; Bartels, Meike; Lichtenstein, Paul; Kaprio, Jaakko; Eley, Thalia C; Davies, Neil M; Munroe, Patricia B; Keers, Robert

Water Oxidation and Degradation Mechanisms of BiVO(4) Photoanodes in Bicarbonate Electrolytes

BiVO(4)光阳极在碳酸氢盐电解液中的水氧化和降解机理

Zhou, Guanda; Aletsee, Clara C; Lemperle, Anna; Rieth, Tim; Mengel, Lucia; Gao, Jianyong; Tschurl, Martin; Heiz, Ueli; Sharp, Ian D

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