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

Analysis of a Modified Version of the Inventory of Non-Ataxia Signs Over 12 Years in Patients with Friedreich's Ataxia in the EFACTS Study

EFACTS研究中,对弗里德赖希共济失调患者12年间非共济失调体征清单修订版的分析

Lischewski, Stella Andrea; Dogan, Imis; Giunti, Paola; Parkinson, Michael H; Mariotti, Caterina; Durr, Alexandra; Ewenczyk, Claire; Boesch, Sylvia; Nachbauer, Wolfgang; Klopstock, Thomas; Stendel, Claudia; de Rivera Garrido, Francisco Javier Rodríguez; Schöls, Ludger; Fleszar, Zofia; Klockgether, Thomas; Grobe-Einsler, Marcus; Giordano, Ilaria; Rai, Myriam; Pandolfo, Massimo; Jacobi, Heike; Hilgers, Ralf-Dieter; Schulz, Jörg B; Reetz, Kathrin

Stage-Dependent Role of Eicosanoids in Colorectal Cancer

类花生酸在结直肠癌中的阶段依赖性作用

Klekowski, Jakub; Fortuna, Paulina; Chabowski, Mariusz; Lewandowski, Łukasz; Szewczak, Wioleta; Mosna, Karolina; Maciejewska, Gabriela; Zawadzki, Marek; Krzystek-Korpacka, Małgorzata; Fleszar, Mariusz

Nerve Ultrasound in Patients With Friedreich Ataxia

弗里德赖希共济失调患者的神经超声检查

Kneer, Katharina; Stahl, Jan-Hendrik; Winter, Natalie; Wittlinger, Julia; Männlin, Stephanie; Gasimli, Toghrul; Schöls, Ludger; Fleszar, Zofia; Hayer, Stefanie; Grimm, Alexander

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

GAA-FGF14 Expansions and CACNA1A Variants: Phenotypic Overlap and Diagnostic Implications

GAA-FGF14 扩增和 CACNA1A 变异:表型重叠和诊断意义

Indelicato, Elisabetta; Fleszar, Zofia; Pellerin, David; Nachbauer, Wolfgang; Zuchner, Stephan; Traschütz, Andreas; Amprosi, Matthias; Schöls, Ludger; Haack, Tobias B; Brais, Bernard; Boesch, Sylvia; Synofzik, Matthis

Long-Read Sequencing Identifies Mosaic Sequence Variations in Friedreich's Ataxia-GAA Repeats

长读长测序揭示弗里德赖希共济失调GAA重复序列中的嵌合序列变异

Park, Joohyun; Dufke, Claudia; Fleszar, Zofia; Schlotterbek, Michael; Buena-Atienza, Elena; Stühn, Lara G; Gross, Caspar; Sturm, Marc; Ossowski, Stephan; Schöls, Ludger; Riess, Olaf; Haack, Tobias B

Robot-Assisted Colorectal Cancer Surgery Mitigates Early Postoperative Immunosuppression and Angiogenesis

机器人辅助结直肠癌手术可减轻术后早期免疫抑制和血管生成。

Fleszar, Mariusz G; Zawadzki, Marek; Fortuna, Paulina; Bednarz-Misa, Iwona; Krauze, Izabela; Maciejewska, Kamila; Klekowski, Jakub; Chabowski, Mariusz; Witkiewicz, Wojciech; Krzystek-Korpacka, Małgorzata

Impact of elicitors and light on biosynthesis of sesquiterpene lactones in tissue culture of Arnica montana and its variety Arbo

诱导剂和光照对山金车及其变种 Arbo 组织培养中倍半萜内酯生物合成的影响

Parafiniuk, Agata; Kromer, Krystyna; Fleszar, Mariusz G; Wróblewska, Katarzyna; Wiśniewski, Jerzy Ł; Gamian, Andrzej

GAD antibodies in neurological disease: a critical evaluation of the utility and treatment implications of GAD antibodies in clinical practice

GAD抗体在神经系统疾病中的作用:对GAD抗体在临床实践中的应用价值和治疗意义的批判性评估

Brown, Rachel L; Thomas-Black, Gilbert; Garcia-Moreno, Hector; Chou, Michael; Fleszar, Zofia; Zandi, Michael S; Chapman, Miles; Church, Andrew J; Hart, Melanie; Giunti, Paola; Vincent, Angela; Lunn, Michael P