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

Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing

利用靶向平行长读长测序技术分析德国患者队列中的重复序列相关性共济失调

Erdmann, Hannes; Schaub, Annalisa; Lucas, Morghan C; Scholz, Veronika; Benet-Pagès, Anna; Becker, Kerstin; Dineiger, Christine; Mayer, Veronika; van Buren, Inga; Breithausen, Eva; Akbari, Karl; Cordts, Isabell; Sauer, Mayra; Schneider, Christine; Krakowsky, Rosanna; Schnabel, Franziska; Dunker, Konstanze; Fabritius, Lena; Gerb, Johannes; Grabova, Denis; Möhwald, Ken; Näher, Marius; Steinmetz, Karoline; Thiessen, Franziska; Jäck, Alexander; Schneider-Gold, Christiane; Zittel, Simone; Petersen, Christina; Schreyer, Isolde; Mämecke, Larissa; Wilfling, Sibylle; Wunderlich, Gilbert; Brenner, David; Hellenbroich, Yorck; Muhle, Kirsten; Huchtemann, Tessa; Claus, Inga; Klopstock, Thomas; Strupp, Michael; Levin, Johannes; Höglinger, Günter U; Huppert, Doreen; Becker-Bense, Sandra; Filippopulos, Filipp; Kilpert, Fabian; Leitão, Elsa; Kaya, Sabine; Depienne, Christel; Schöberl, Florian; Neuhann, Teresa; Holinski-Feder, Elke; Zwergal, Andreas; Abicht, Angela

The Diverse Neuromuscular Spectrum of VPS13A Disease

VPS13A疾病的多样化神经肌肉谱

Buchberger, Anne; Riedel, Evamaria; Hackenberg, Marie; Mensch, Alexander; Beck-Woedl, Stefanie; Park, Joohyun; Haack, Tobias B; Haslinger, Bernhard; Kirschke, Jan; Prokisch, Holger; Hermann, Andreas; Mawrin, Christian; Danek, Adrian; Schoser, Benedikt; Peikert, Kevin; Deschauer, Marcus; Cordts, Isabell

Shared burden of ultra-rare genetic variants across a spectrum of motor neuron diseases

多种运动神经元疾病中超罕见基因变异的共同负担

Wu, Gang; Chen, Wenan; Wuu, Joanne; Jain, Angita; Myers, Jason; Cordts, Isabell; Rampersaud, Evadnie; Heckmann, Jeannine M; Nel, Melissa; Granit, Volkan; Statland, Jeffrey; Swenson, Andrea; Ravits, John; McMillan, Corey T; Elman, Lauren; Caress, James; Burns, Ted M; Pioro, Erik P; Trivedi, Jaya; Katz, Jonathan; Jackson, Carlayne; Maiser, Samuel; Walk, David; So, Yuen; McCauley, Jacob L; Baker, Matthew C; Taylor, J Paul; Zuchner, Stephan; Rademakers, Rosa; van Blitterswijk, Marka; Benatar, Michael

Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD

由SORD基因突变引起的夏科-马里-图斯病的基因型和表型谱

Cortese, Andrea; Dohrn, Maike F; Curro, Riccardo; Negri, Sara; Lassuthova, Petra; Pisciotta, Chiara; Tozza, Stefano; Al-Ajmi, Abdullah; Feng, Changyong; Tomaselli, Pedro J; Fernandez-Eulate, Gorka; Haddad, Saif; Laurà, Matilde; Rossor, Alexander M; Vegezzi, Elisa; Facchini, Stefano; Sleigh, James N; Rebelo, Adriana; Beijer, Danique; Raposo, Jacquelyn; Saporta, Mario; Lauerova, Barbora; Pernice, Helena F; Achenbach, Pascal; Schöne, Ulrike; Alon, Tayir; Deschauer, Marcus; Cordts, Isabell; Obermaier, Carolin D; Winter, Natalie; Creigh, Peter D; Sowden, Janet E; Rehbein, Tyler; Magri, Stefania; Bertini, Alessandro; Saveri, Paola; Ripellino, Paolo; Huang, Jingyu; Nadaj-Pakleza, Aleksandra; Ross, Alison; Holt, James K L; Brennan, Kathryn M; Sukenik-Halevy, Rivka; Bizaoui, Varoona; Parman, Yesim; Battaloglu, Esra; Cakar, Arman; Alrohaif, Hadil; Hammans, Simon; Kumar, Kishore R; Kennerson, Marina L; Kayserili, Hülya; Amado, Defne A; Hahn, Katrin; Valentino, Paola; Cavalcanti, Francesca; Gaetano, Carlo; Taroni, Franco; Braathen, Geir J; Houlden, Henry; Stojkovic, Tanya; Peric, Stojan; Bolino, Alessandra; Previtali, Stefano C; Yi-Chung, Lee; Başak, Ayşe N; Hamed, Sherifa A; Rojas-Garcia, Ricardo; Claeys, Kristl G; Marques, Wilson; Sevilla, Teresa; Schlotter-Weigel, Beate; Manganelli, Fiore; Zhang, Ruxu; Herrmann, David N; Scherer, Steven S; Seeman, Pavel; Pareyson, Davide; Reilly, Mary M; Shy, Michael E; Züchner, Stephan

Identification and validation of a tear fluid-derived protein biomarker signature in patients with amyotrophic lateral sclerosis.

肌萎缩侧索硬化症患者泪液衍生蛋白生物标志物的鉴定与验证

Scholl Lena-Sophie, Demleitner Antonia F, Riedel Jenny, Adachi Seren, Neuenroth Lisa, Meijs Clara, Tzeplaeff Laura, Caldi Gomes Lucas, Galhoz Ana, Cordts Isabell, Lenz Christof, Menden Michael, Lingor Paul

Respiratory function in 192 adult patients with spinal muscular atrophy (SMA) treated with nusinersen - a multicenter observational study

一项多中心观察性研究:192例接受诺西那生治疗的脊髓性肌萎缩症(SMA)成年患者的呼吸功能

Wurster, Claudia D; Stolte, Benjamin; Kessler, Tobias; Freigang, Maren; Bjelica, Bogdan; Ilse, Benjamin; Koch, Jan C; Cordts, Isabell; Mensch, Alexander; Zeller, Daniel; Uzelac, Zeljko; Sam, Georges; Lapp, Hanna Sophie; Wohnrade, Camilla; Rödiger, Annekathrin; Muhandes, Mohamad Tareq; Schneider, Ilka; Bellut, Julia; Nentwich, Julia; Dorst, Johannes; Schuster, Joachim; Schreiber-Katz, Olivia; Osmanovic, Alma; Totzeck, Andreas; Thimm, Andreas; Steinbach, Robert; Grosskreutz, Julian; Kleinschnitz, Christoph; Ludolph, Albert C; Deschauer, Marcus; Kirschner, Janbernd; Dreyhaupt, Jens; Wollinsky, Kurt; Petri, Susanne; Weiler, Markus; Hagenacker, Tim; Günther, René

Shared prognostic information in amyotrophic lateral sclerosis - systematic assessment of the patients' perception of neurofilament light chain and the ALS functional rating scale

肌萎缩侧索硬化症预后信息的共享——系统评估患者对神经丝轻链和ALS功能评定量表的感知

Möhwald, Lukas Maximilian; Maier, André; Grehl, Torsten; Weyen, Ute; Weydt, Patrick; Günther, René; Lingor, Paul; Göricke, Bettina; Petri, Susanne; Grosskreutz, Julian; Boentert, Matthias; Cordts, Isabell; Weishaupt, Jochen H; Dorst, Johannes; Münch, Christoph; Meyer, Thomas; Baum, Petra

Heal the healer: empowering healthcare providers to enact systems-level wellness changes. A mixed methods survey study

治愈医护人员:赋能医疗保健提供者,使其能够实施系统层面的健康变革。一项混合方法调查研究

Poppert Cordts, Katrina M; Ramírez, Juan Paulo; Gliko, Dominic; Creason-Wahl, Valeta; Wattenbach, Kami; Moore, Tiffany; Keeler, Heidi; Hanish, Alyson E

Safety, tolerability, and efficacy of fasudil in amyotrophic lateral sclerosis (ROCK-ALS): a phase 2, randomised, double-blind, placebo-controlled trial

法舒地尔治疗肌萎缩侧索硬化症的安全性、耐受性和有效性(ROCK-ALS):一项 II 期随机、双盲、安慰剂对照试验

Koch, Jan C; Leha, Andreas; Bidner, Helen; Cordts, Isabell; Dorst, Johannes; Günther, René; Zeller, Daniel; Braun, Nathalie; Metelmann, Moritz; Corcia, Philippe; De La Cruz, Elisa; Weydt, Patrick; Meyer, Thomas; Großkreutz, Julian; Soriani, Marie-Hélène; Attarian, Shahram; Weishaupt, Jochen H; Weyen, Ute; Kuttler, Josua; Zurek, Gabriela; Rogers, Mary-Louise; Feneberg, Emily; Deschauer, Marcus; Neuwirth, Christoph; Wuu, Joanne; Ludolph, Albert C; Schmidt, Jens; Remane, Yvonne; Camu, William; Friede, Tim; Benatar, Michael; Weber, Markus; Lingor, Paul