日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Demographic, clinical and genetic characteristics of patients with amyotrophic lateral sclerosis from two specialised centres in Austria

奥地利两家专科中心肌萎缩侧索硬化症患者的人口统计学、临床和遗传特征

Keritam, Omar; Kleinveld, Vera Elisabeth; Klotz, Sigrid; Caliskan, Haluk; Mayerhofer, Marita; Sener, Merve; Jäger, Fiona; Weng, Rosa; Bormann, Daniel; Pugna, Isabel; Gebert, Johannes; Fedak, Ivan; Renner, Andreas; Antoniewicz, Lukasz; Rath, Jakob; Zulehner, Gudrun; Krenn, Martin; Zimprich, Fritz; Löscher, Wolfgang N; Cetin, Hakan

A Delphi consensus on integrating novel therapies into the management of generalized myasthenia gravis

关于将新型疗法整合到全身型重症肌无力治疗中的德尔菲共识

Vissing, John; Zimprich, Fritz; Atula, Sari; Chan, Andrew; Andersen, Henning; Topakian, Raffi; Tannemaat, Martijn R; Weber, Konrad P; Cetin, Hakan; Neuwirth, Christoph; Kuusisto, Hanna; Loescher, Wolfgang N

Diagnostic performance and safety of the edrophonium test in myasthenia gravis: a retrospective case-control study

依酚氯铵试验在重症肌无力诊断中的性能和安全性:一项回顾性病例对照研究

Keritam, Omar; Kräutler, Julia Bettina; Gharib, Diana; Jabir, Elnayer Ahmed; Weng, Rosa; Jäger, Fiona; Krenn, Martin; Paul, Anna; Rinner, Walter; Cetin, Hakan; Zimprich, Fritz; Zulehner, Gudrun; Rath, Jakob

Hereditary Transthyretin Amyloidosis in Austria: Clinical, Genetic, and Demographic Insights from a Nationwide Cohort

奥地利遗传性转甲状腺素蛋白淀粉样变性:来自全国队列的临床、遗传和人口统计学见解

Ermolaev, Nikita; Löscher, Wolfgang N; Verheyen, Nicolas; Pölzl, Gerhard; Ablasser, Klemens; Agis, Hermine; Binder, Christina; Bonderman, Diana; Cetin, Hakan; Duca, Franz; Griedl, Theresa Antonia; Hacker, Sandra; Höller, Viktoria; Kammerlander, Andreas; Kellermair, Lukas; Kleinveld, Vera E A; Kronberger, Christina; Mörtl, Deddo; Poledniczek, Michael; Reiter, Christian; Rettl, Rene; Schmid, Lena Marie; Schwegel, Nora; Schaumberger, Elisabeth; Sunder-Plassmann, Raute; Ungericht, Maria; Windhager, Reinhard; Zimprich, Fritz; Badr Eslam, Roza; Auer-Grumbach, Michaela

A novel alpha-synuclein G14R missense variant is associated with atypical neuropathological features

一种新型α-突触核蛋白G14R错义变异与非典型神经病理特征相关。

Brücke, Christof; Al-Azzani, Mohammed; Ramalingam, Nagendran; Ramón, Maria; Sousa, Rita L; Buratti, Fiamma; Zech, Michael; Sicking, Kevin; Amaral, Leslie; Gelpi, Ellen; Chandran, Aswathy; Agarwal, Aishwarya; Chaves, Susana R; Fernández, Claudio O; Dettmer, Ulf; Lautenschläger, Janin; Zweckstetter, Markus; Fernández-Busnadiego, Rubén; Zimprich, Alexander; Outeiro, Tiago Fleming

Efficacy and safety of risdiplam in adults with 5q-associated spinal muscular atrophy: a nationwide observational cohort study in Austria

利司帕林治疗5q相关脊髓性肌萎缩症成人患者的疗效和安全性:一项奥地利全国性观察性队列研究

Keritam, Omar; Erdler, Marcus; Fasching, Bernhard; Zulehner, Gudrun; Rath, Jakob; Krenn, Martin; Waldhör, Thomas; Gruber, Victoria Anna; Langweil, Nadine; Kiss, Christian; Griedl, Theresa Antonia; Gold, Valeriu; Wanschitz, Julia; Hotter, Anna; Kleinveld, Vera E A; Horlings, Corinne G C; Erber, Astrid; Schernhammer, Eva; Troger, Johannes; Grinzinger, Susanne; Müller, Petra; Langenscheidt, Dieter; Rappold, Mika; Wiesenhofer, Anna; Gosk-Tomek, Magdalena; Knipp, Florian; Mahal, Simone; Bernert, Günther; Baumann, Matthias; Zimprich, Fritz; Topakian, Raffi; Eggers, Christian; Quasthoff, Stefan; Löscher, Wolfgang; Cetin, Hakan

Neuropathy-associated Tecpr2 mutation knock-in mice reveal endolysosomal loss of function phenotypes in neurons and microglia

神经病变相关的Tecpr2突变敲入小鼠揭示了神经元和小胶质细胞中内溶酶体功能丧失的表型。

Bhattacharya, Debjani; da Silva-Buttkus, Patricia; Nalbach, Karsten; Cheng, Lizhen; Garrett, Lillian; Irmler, Martin; Kislinger, Georg; Werner, Georg; Rodde, Ramona; Lengger, Christoph; Beckers, Johannes; Zimprich, Annemarie; Hölter, Sabine M; Gailus-Durner, Valerie; Fuchs, Helmut; Hrabe de Angelis, Martin; Wefers, Benedikt; Wurst, Wolfgang; Brill, Monika S; Schifferer, Martina; Lichtenthaler, Stefan F; Behrends, Christian

Abatacept Induces Long-Term Reconstitution of the B-Cell Niche in a Patient With CTLA-4 Haploinsufficiency: A Case Report

阿巴西普诱导CTLA-4单倍体功能不全患者B细胞微环境的长期重建:病例报告

Pfeuffer, Steffen; Nelke, Christopher; Pawlitzki, Marc; Ruck, Tobias; Schroeter, Christina B; Thomas, Christian; Kobbe, Guido; Dietrich, Sascha; Zimprich, Alexander A; Wiendl, Heinz; Meuth, Sven G

PPM1M, an LRRK2-counteracting, phosphoRab12-preferring phosphatase with a potential link to Parkinson's disease.

PPM1M 是一种 LRRK2 拮抗剂,优先结合磷酸化 Rab12 的磷酸酶,可能与帕金森病有关。

Chiang Claire Y, Pratuseviciute Neringa, Lin Yu-En, Adhikari Ayan, Yeshaw Wondwossen M, Flitton Chloe, Sherpa Pemba L, Tonelli Francesca, Rektorova Irena, Lynch Timothy, Siuda Joanna, Rudzińska-Bar Monika, Pulyk Oleksandr, Bauer Peter, Beetz Christian, Dickson Dennis W, Ross Owen A, Wszolek Zbigniew K, Fang Zih-Hua, Klein Christine, Zimprich Alexander, Alessi Dario R, Sammler Esther M, Pfeffer Suzanne R

Signs of Intracranial Hypertension in Chronic Inflammatory Polyradiculoneuropathies-A Cross Sectional Cohort Study

慢性炎症性多发性神经根神经病患者颅内高压的体征——一项横断面队列研究

Macher, Stefan; Krajnc, Nik; Rath, Jakob; Marik, Wolfgang; Michl, Martin; Stapf, Christoph; Mueller, Nina; Novak, Klaus; Woeber, Christian; Zaic, Sina; Zulehner, Gudrun; Zimprich, Fritz; Pemp, Berthold; Bsteh, Gabriel