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

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

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

Premature skeletal muscle aging in VPS13A deficiency relates to impaired autophagy

VPS13A缺陷导致的骨骼肌过早衰老与自噬功能受损有关

Riccardi, Veronica; Viscomi, Carlo Fiore; Sandri, Marco; D'Alessandro, Angelo; Dzieciatkowska, Monika; Stephenson, Daniel; Federti, Enrica; Hermann, Andreas; Salviati, Leonardo; Siciliano, Angela; Andolfo, Immacolata; Alper, Seth L; Ceolan, Jacopo; Iolascon, Achille; Vattemi, Gaetano; Danek, Adrian; Walker, Ruth H; Mensch, Alexander; Otto, Markus; Deschauer, Marcus; Armbrust, Moritz; Beninca', Cristiane; Salari, Valentina; Fabene, Paolo; Peikert, Kevin; De Franceschi, Lucia

Compound Muscle Action Potential (CMAP) Amplitude Trajectories and Pattern in Adults with 5q-Spinal Muscular Atrophy Receiving Nusinersen Therapy: A Multicenter, Binational Observational Study

接受诺西那生治疗的5q-脊髓性肌萎缩症成人患者的复合肌肉动作电位(CMAP)振幅轨迹和模式:一项多中心、跨国观察性研究

Bjelica, Bogdan; Wohnrade, Camilla; Osmanovic, Alma; Schreiber-Katz, Olivia; Koerner, Sonja; Kollewe, Katja; Haeckl, Sebastian; Freigang, Maren; Cordts, Isabell; Becker, Benedikt; Vogt, Charlotte; Muhandes, Mohamad Tareq; Günther, René; Deschauer, Marcus; Koch, Jan C; Tuerk, Matthias; Regensburger, Martin; Neuwirth, Christoph; Petri, Susanne

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

Deep learning-based acceleration of muscle water T2 mapping in patients with neuromuscular diseases by more than 50% - translating quantitative MRI from research to clinical routine

基于深度学习的神经肌肉疾病患者肌肉水T2映射速度提升超过50%——将定量MRI从研究转化为临床常规应用

Schmitt, Joachim; Weidlich, Dominik; Weiss, Kilian; Stelter, Jonathan; Montagnese, Federica; Deschauer, Marcus; Schoser, Benedikt; Zimmer, Claus; Karampinos, Dimitrios C; Kirschke, Jan S; Schlaeger, Sarah

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

Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy: a prospective European multinational observational study

诺西那生治疗5q脊髓性肌萎缩症成人患者的长期疗效和安全性:一项前瞻性欧洲多国观察性研究

Günther, René; Wurster, Claudia Diana; Brakemeier, Svenja; Osmanovic, Alma; Schreiber-Katz, Olivia; Petri, Susanne; Uzelac, Zeljko; Hiebeler, Miriam; Thiele, Simone; Walter, Maggie C; Weiler, Markus; Kessler, Tobias; Freigang, Maren; Lapp, Hanna Sophie; Cordts, Isabell; Lingor, Paul; Deschauer, Marcus; Hahn, Andreas; Martakis, Kyriakos; Steinbach, Robert; Ilse, Benjamin; Rödiger, Annekathrin; Bellut, Julia; Nentwich, Julia; Zeller, Daniel; Muhandes, Mohamad Tareq; Baum, Tobias; Christoph Koch, Jan; Schrank, Bertold; Fischer, Sophie; Hermann, Andreas; Kamm, Christoph; Naegel, Steffen; Mensch, Alexander; Weber, Markus; Neuwirth, Christoph; Lehmann, Helmar C; Wunderlich, Gilbert; Stadler, Christian; Tomforde, Maike; George, Annette; Groß, Martin; Pechmann, Astrid; Kirschner, Janbernd; Türk, Matthias; Schimmel, Mareike; Bernert, Günther; Martin, Pascal; Rauscher, Christian; Meyer Zu Hörste, Gerd; Baum, Petra; Löscher, Wolfgang; Flotats-Bastardas, Marina; Köhler, Cornelia; Probst-Schendzielorz, Kristina; Goldbach, Susanne; Schara-Schmidt, Ulrike; Müller-Felber, Wolfgang; Lochmüller, Hanns; von Velsen, Otgonzul; Kleinschnitz, Christoph; Ludolph, Albert C; Hagenacker, Tim

5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2

5qSMA:对268例携带4个SMN2基因拷贝的患者进行标准化回顾性自然史评估

Vill, Katharina; Tacke, Moritz; König, Anna; Baumann, Matthias; Baumgartner, Manuela; Steinbach, Meike; Bernert, Guenther; Blaschek, Astrid; Deschauer, Marcus; Flotats-Bastardas, Marina; Friese, Johannes; Goldbach, Susanne; Gross, Martin; Günther, René; Hahn, Andreas; Hagenacker, Tim; Hauser, Erwin; Horber, Veronka; Illsinger, Sabine; Johannsen, Jessika; Kamm, Christoph; Koch, Jan C; Koelbel, Heike; Koehler, Cornelia; Kolzter, Kirsten; Lochmüller, Hanns; Ludolph, Albert; Mensch, Alexander; Meyer Zu Hoerste, Gerd; Mueller, Monika; Mueller-Felber, Wolfgang; Neuwirth, Christoph; Petri, Susanne; Probst-Schendzielorz, Kristina; Pühringer, Manuel; Steinbach, Robert; Schara-Schmidt, Ulrike; Schimmel, Mareike; Schrank, Bertold; Schwartz, Oliver; Schlachter, Kurt; Schwerin-Nagel, Annette; Schreiber, Gudrun; Smitka, Martin; Topakian, Raffi; Trollmann, Regina; Tuerk, Matthias; Theophil, Manuela; Rauscher, Christian; Vorgerd, Mathias; Walter, Maggie C; Weiler, Markus; Weiss, Claudia; Wilichowski, Ekkehard; Wurster, Claudia D; Wunderlich, Gilbert; Zeller, Daniel; Ziegler, Andreas; Kirschner, Janbernd; Pechmann, Astrid