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

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

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

Holistic Exome-Based Genetic Testing in Adults With Epilepsy

针对成年癫痫患者的基于外显子组的整体基因检测

Krenn, Martin; Wagner, Matias; Trimmel, Karin; Bonelli, Silvia; Rath, Jakob; Jud, Judith; Schwarz, Michelle; Milenkovic, Ivan; Weng, Rosa; Koren, Johannes; Baumgartner, Christoph; Brugger, Melanie; Brunet, Theresa; Graf, Elisabeth; Winkelmann, Juliane; Aull-Watschinger, Susanne; Zimprich, Fritz; Pataraia, Ekaterina

A clinical perspective on muscle specific kinase antibody positive myasthenia gravis

肌特异性激酶抗体阳性重症肌无力的临床视角

Keritam, Omar; Vincent, Angela; Zimprich, Fritz; Cetin, Hakan

Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses

对 263 例成年神经肌肉疾病患者进行新一代测序和综合数据重新评估:深入了解分子诊断的灰色地带

Krenn, Martin; Wagner, Matias; Zulehner, Gudrun; Weng, Rosa; Jäger, Fiona; Keritam, Omar; Sener, Merve; Brücke, Christof; Milenkovic, Ivan; Langer, Agnes; Buchinger, Dominic; Habersam, Richard; Mayerhanser, Katharina; Brugger, Melanie; Brunet, Theresa; Jacob, Maureen; Graf, Elisabeth; Berutti, Riccardo; Cetin, Hakan; Hoefele, Julia; Winkelmann, Juliane; Zimprich, Fritz; Rath, Jakob

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

对 20979 名癫痫患者的外显子组测序揭示了不同疾病亚型之间共同的和独特的超罕见遗传风险

Chen, Siwei; Abou-Khalil, Bassel W; Afawi, Zaid; Ali, Quratulain Zulfiqar; Amadori, Elisabetta; Anderson, Alison; Anderson, Joe; Andrade, Danielle M; Annesi, Grazia; Arslan, Mutluay; Auce, Pauls; Bahlo, Melanie; Baker, Mark D; Balagura, Ganna; Balestrini, Simona; Banks, Eric; Barba, Carmen; Barboza, Karen; Bartolomei, Fabrice; Bass, Nick; Baum, Larry W; Baumgartner, Tobias H; Baykan, Betül; Bebek, Nerses; Becker, Felicitas; Bennett, Caitlin A; Beydoun, Ahmad; Bianchini, Claudia; Bisulli, Francesca; Blackwood, Douglas; Blatt, Ilan; Borggräfe, Ingo; Bosselmann, Christian; Braatz, Vera; Brand, Harrison; Brockmann, Knut; Buono, Russell J; Busch, Robyn M; Caglayan, S Hande; Canafoglia, Laura; Canavati, Christina; Castellotti, Barbara; Cavalleri, Gianpiero L; Cerrato, Felecia; Chassoux, Francine; Cherian, Christina; Cherny, Stacey S; Cheung, Ching-Lung; Chou, I-Jun; Chung, Seo-Kyung; Churchhouse, Claire; Ciullo, Valentina; Clark, Peggy O; Cole, Andrew J; Cosico, Mahgenn; Cossette, Patrick; Cotsapas, Chris; Cusick, Caroline; Daly, Mark J; Davis, Lea K; Jonghe, Peter De; Delanty, Norman; Dennig, Dieter; Depondt, Chantal; Derambure, Philippe; Devinsky, Orrin; Di Vito, Lidia; Dickerson, Faith; Dlugos, Dennis J; Doccini, Viola; Doherty, Colin P; El-Naggar, Hany; Ellis, Colin A; Epstein, Leon; Evans, Meghan; Faucon, Annika; Feng, Yen-Chen Anne; Ferguson, Lisa; Ferraro, Thomas N; Da Silva, Izabela Ferreira; Ferri, Lorenzo; Feucht, Martha; Fields, Madeline C; Fitzgerald, Mark; Fonferko-Shadrach, Beata; Fortunato, Francesco; Franceschetti, Silvana; French, Jacqueline A; Freri, Elena; Fu, Jack M; Gabriel, Stacey; Gagliardi, Monica; Gambardella, Antonio; Gauthier, Laura; Giangregorio, Tania; Gili, Tommaso; Glauser, Tracy A; Goldberg, Ethan; Goldman, Alica; Goldstein, David B; Granata, Tiziana; Grant, Riley; Greenberg, David A; Guerrini, Renzo; Gundogdu-Eken, Aslı; Gupta, Namrata; Haas, Kevin; Hakonarson, Hakon; Haryanyan, Garen; Häusler, Martin; Hegde, Manu; Heinzen, Erin L; Helbig, Ingo; Hengsbach, Christian; Heyne, Henrike; Hirose, Shinichi; Hirsch, Edouard; Ho, Chen-Jui; Hoeper, Olivia; Howrigan, Daniel P; Hucks, Donald; Hung, Po-Chen; Iacomino, Michele; Inoue, Yushi; Inuzuka, Luciana Midori; Ishii, Atsushi; Jehi, Lara; Johnson, Michael R; Johnstone, Mandy; Kälviäinen, Reetta; Kanaan, Moien; Kara, Bulent; Kariuki, Symon M; Kegele, Josua; Kesim, Yeşim; Khoueiry-Zgheib, Nathalie; Khoury, Jean; King, Chontelle; Klein, Karl Martin; Kluger, Gerhard; Knake, Susanne; Kok, Fernando; Korczyn, Amos D; Korinthenberg, Rudolf; Koupparis, Andreas; Kousiappa, Ioanna; Krause, Roland; Krenn, Martin; Krestel, Heinz; Krey, Ilona; Kunz, Wolfram S; Kurlemann, Gerhard; Kuzniecky, Ruben I; Kwan, Patrick; La Vega-Talbott, Maite; Labate, Angelo; Lacey, Austin; Lal, Dennis; Laššuthová, Petra; Lauxmann, Stephan; Lawthom, Charlotte; Leech, Stephanie L; Lehesjoki, Anna-Elina; Lemke, Johannes R; Lerche, Holger; Lesca, Gaetan; Leu, Costin; Lewin, Naomi; Lewis-Smith, David; Li, Gloria Hoi-Yee; Liao, Calwing; Licchetta, Laura; Lin, Chih-Hsiang; Lin, Kuang-Lin; Linnankivi, Tarja; Lo, Warren; Lowenstein, Daniel H; Lowther, Chelsea; Lubbers, Laura; Lui, Colin H T; Macedo-Souza, Lucia Inês; Madeleyn, Rene; Madia, Francesca; Magri, Stefania; Maillard, Louis; Marcuse, Lara; Marques, Paula; Marson, Anthony G; Matthews, Abigail G; May, Patrick; Mayer, Thomas; McArdle, Wendy; McCarroll, Steven M; McGoldrick, Patricia; McGraw, Christopher M; McIntosh, Andrew; McQuillan, Andrew; Meador, Kimford J; Mei, Davide; Michel, Véronique; Millichap, John J; Minardi, Raffaella; Montomoli, Martino; Mostacci, Barbara; Muccioli, Lorenzo; Muhle, Hiltrud; Müller-Schlüter, Karen; Najm, Imad M; Nasreddine, Wassim; Neaves, Samuel; Neubauer, Bernd A; Newton, Charles R J C; Noebels, Jeffrey L; Northstone, Kate; Novod, Sam; O'Brien, Terence J; Owusu-Agyei, Seth; Özkara, Çiğdem; Palotie, Aarno; Papacostas, Savvas S; Parrini, Elena; Pato, Carlos; Pato, Michele; Pendziwiat, Manuela; Pennell, Page B; Petrovski, Slavé; Pickrell, William O; Pinsky, Rebecca; Pinto, Dalila; Pippucci, Tommaso; Piras, Fabrizio; Piras, Federica; Poduri, Annapurna; Pondrelli, Federica; Posthuma, Danielle; Powell, Robert H W; Privitera, Michael; Rademacher, Annika; Ragona, Francesca; Ramirez-Hamouz, Byron; Rau, Sarah; Raynes, Hillary R; Rees, Mark I; Regan, Brigid M; Reif, Andreas; Reinthaler, Eva; Rheims, Sylvain; Ring, Susan M; Riva, Antonella; Rojas, Enrique; Rosenow, Felix; Ryvlin, Philippe; Saarela, Anni; Sadleir, Lynette G; Salman, Barış; Salmon, Andrea; Salpietro, Vincenzo; Sammarra, Ilaria; Scala, Marcello; Schachter, Steven; Schaller, André; Schankin, Christoph J; Scheffer, Ingrid E; Schneider, Natascha; Schubert-Bast, Susanne; Schulze-Bonhage, Andreas; Scudieri, Paolo; Sedláčková, Lucie; Shain, Catherine; Sham, Pak C; Shiedley, Beth R; Siena, S Anthony; Sills, Graeme J; Sisodiya, Sanjay M; Smoller, Jordan W; Solomonson, Matthew; Spalletta, Gianfranco; Sparks, Kathryn R; Sperling, Michael R; Stamberger, Hannah; Steinhoff, Bernhard J; Stephani, Ulrich; Štěrbová, Katalin; Stewart, William C; Stipa, Carlotta; Striano, Pasquale; Strzelczyk, Adam; Surges, Rainer; Suzuki, Toshimitsu; Talarico, Mariagrazia; Talkowski, Michael E; Taneja, Randip S; Tanteles, George A; Timonen, Oskari; Timpson, Nicholas John; Tinuper, Paolo; Todaro, Marian; Topaloglu, Pınar; Tsai, Meng-Han; Tumiene, Birute; Turkdogan, Dilsad; Uğur-İşeri, Sibel; Utkus, Algirdas; Vaidiswaran, Priya; Valton, Luc; van Baalen, Andreas; Vari, Maria Stella; Vetro, Annalisa; Vlčková, Markéta; von Brauchitsch, Sophie; von Spiczak, Sarah; Wagner, Ryan G; Watts, Nick; Weber, Yvonne G; Weckhuysen, Sarah; Widdess-Walsh, Peter; Wiebe, Samuel; Wolf, Steven M; Wolff, Markus; Wolking, Stefan; Wong, Isaac; von Wrede, Randi; Wu, David; Yamakawa, Kazuhiro; Yapıcı, Zuhal; Yis, Uluc; Yolken, Robert; Yücesan, Emrah; Zagaglia, Sara; Zahnert, Felix; Zara, Federico; Zimprich, Fritz; Zizovic, Milena; Zsurka, Gábor; Neale, Benjamin M; Berkovic, Samuel F