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

Biconcave vertebral fractures as a possible distinctive feature of indolent systemic mastocytosis compared with primary osteoporosis

双凹椎体骨折可能是惰性系统性肥大细胞增多症与原发性骨质疏松症的一个独特特征

Arcidiacono, Gaetano Paride; Torres, Marco Onofrio; Zanchetta, Francesca; Testoni, Sofia; Tripepi, Giovanni; Cecchinato, Alberta; Diogo, Martin; Peleg Falb, Mor; Guidolin, Francesca; Bertozzi, Irene; Pizzi, Marco; Cancian, Mauro; Senter, Riccardo; Gianesello, Ilaria; Caroppo, Francesca; Tanasi, Ilaria; Zanotti, Roberta; Belletti, Lorenza; Fusaro, Maria; Campello, Elena; Sella, Stefania; Simioni, Paolo; Giannini, Sandro

A unified approach for identifying PET-based neuronal activation and molecular connectivity with the functional PET toolbox

利用功能性PET工具箱,采用统一的方法识别基于PET的神经元激活和分子连接。

Hahn, Andreas; Reed, Murray B; Milz, Christian; Falb, Pia; Murgaš, Matej; Lanzenberger, Rupert

High-temporal resolution metabolic connectivity resolved by component-based noise correction

利用基于成分的噪声校正解析高时间分辨率代谢连接性

Reed, Murray B; Graf, Samantha; Murgaš, Matej; Eggerstorfer, Benjamin; Milz, Christian; Silberbauer, Leo R; Falb, Pia; Briem, Elisa; Mayerweg, Alexandra; Schlosser, Gabriel; Klug, Sebastian; Nics, Lukas; Godbersen, Godber M; Rasul, Sazan; Hacker, Marcus; Hahn, Andreas; Lanzenberger, Rupert

Myelin-specific IL2 + T-cells are associated with last occurring relapse severity in relapsing-remitting multiple sclerosis

髓鞘特异性IL2+T细胞与复发缓解型多发性硬化症最后一次复发的严重程度相关

Zilkha-Falb, Rina; Drori, Tali; Shwartz, Katya; Gurevich, Michael

Arm circumference predicts 12-month mortality in older adults with hip fracture

手臂周长可预测老年髋部骨折患者的12个月死亡率

Ceolin, Chiara; Termini, Giulia; Sella, Stefania; Camozzi, Valentina; Bertocco, Anna; Torres, Marco Onofrio; Cecchinato, Alberta; Diogo, Martin; Peleg Falb, Mor; Guidolin, Francesca; Rodà, Maria Grazia; Cannito, Michele; Berizzi, Antonio; Venturin, Andrea; Cianci, Vito; Pala, Elisa; Cerchiaro, Mariachiara; Boemo, Deris Gianni; Nesoti, Maria Vittoria; Arcidiacono, Gaetano Paride; Simioni, Paolo; Ruggieri, Pietro; Sergi, Giuseppe; Giannini, Sandro; De Rui, Marina

Changes of individual choroidal thickness post-uneventful cataract surgery determined by spectral-domain optical coherence tomography over a 3-month period

采用光谱域光学相干断层扫描技术测定白内障手术后3个月内脉络膜厚度的个体变化。

Peschaut, T; Riedl, R; Harling, L; Gran, J; Posch-Pertl, L; Glatz, W M; Falb, T; Djavid, D; Ivastinovic, D; Wedrich, A; Malle, E M; Großpötzl, M

Integrating mental health care to reduce intimate partner violence in complex humanitarian emergencies

在复杂的人道主义紧急情况下,将心理健康护理纳入其中,以减少亲密伴侣暴力

Bourey, Christine; Murray, Sarah M; Tol, Wietse A; Bass, Judith K; Ba, Aissata; Mahenge, Bathsheba; Mulemba, Saphira; Falb, Kathryn

Violence against women and girls research: Leveraging gains across disciplines

针对妇女和女童的暴力研究:跨学科融合成果

Falb, Kathryn; Peterman, Amber; Nordås, Ragnhild; Field, Anjalie; Porat, Roni; Stark, Lindsay

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

KDM6B相关神经发育障碍的临床和分子谱

Rots, Dmitrijs; Jakub, Taryn E; Keung, Crystal; Jackson, Adam; Banka, Siddharth; Pfundt, Rolph; de Vries, Bert B A; van Jaarsveld, Richard H; Hopman, Saskia M J; van Binsbergen, Ellen; Valenzuela, Irene; Hempel, Maja; Bierhals, Tatjana; Kortüm, Fanny; Lecoquierre, Francois; Goldenberg, Alice; Hertz, Jens Michael; Andersen, Charlotte Brasch; Kibæk, Maria; Prijoles, Eloise J; Stevenson, Roger E; Everman, David B; Patterson, Wesley G; Meng, Linyan; Gijavanekar, Charul; De Dios, Karl; Lakhani, Shenela; Levy, Tess; Wagner, Matias; Wieczorek, Dagmar; Benke, Paul J; Lopez Garcia, María Soledad; Perrier, Renee; Sousa, Sergio B; Almeida, Pedro M; Simões, Maria José; Isidor, Bertrand; Deb, Wallid; Schmanski, Andrew A; Abdul-Rahman, Omar; Philippe, Christophe; Bruel, Ange-Line; Faivre, Laurence; Vitobello, Antonio; Thauvin, Christel; Smits, Jeroen J; Garavelli, Livia; Caraffi, Stefano G; Peluso, Francesca; Davis-Keppen, Laura; Platt, Dylan; Royer, Erin; Leeuwen, Lisette; Sinnema, Margje; Stegmann, Alexander P A; Stumpel, Constance T R M; Tiller, George E; Bosch, Daniëlle G M; Potgieter, Stephanus T; Joss, Shelagh; Splitt, Miranda; Holden, Simon; Prapa, Matina; Foulds, Nicola; Douzgou, Sofia; Puura, Kaija; Waltes, Regina; Chiocchetti, Andreas G; Freitag, Christine M; Satterstrom, F Kyle; De Rubeis, Silvia; Buxbaum, Joseph; Gelb, Bruce D; Branko, Aleksic; Kushima, Itaru; Howe, Jennifer; Scherer, Stephen W; Arado, Alessia; Baldo, Chiara; Patat, Olivier; Bénédicte, Demeer; Lopergolo, Diego; Santorelli, Filippo M; Haack, Tobias B; Dufke, Andreas; Bertrand, Miriam; Falb, Ruth J; Rieß, Angelika; Krieg, Peter; Spranger, Stephanie; Bedeschi, Maria Francesca; Iascone, Maria; Josephi-Taylor, Sarah; Roscioli, Tony; Buckley, Michael F; Liebelt, Jan; Dagli, Aditi I; Aten, Emmelien; Hurst, Anna C E; Hicks, Alesha; Suri, Mohnish; Aliu, Ermal; Naik, Sunil; Sidlow, Richard; Coursimault, Juliette; Nicolas, Gaël; Küpper, Hanna; Petit, Florence; Ibrahim, Veyan; Top, Deniz; Di Cara, Francesca; Louie, Raymond J; Stolerman, Elliot; Brunner, Han G; Vissers, Lisenka E L M; Kramer, Jamie M; Kleefstra, Tjitske