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

Volumetric signatures of basal ganglia-thalamo-cortical and cerebello-thalamo-cortical networks in Parkinson's disease and its motor subtypes

帕金森病及其运动亚型中基底神经节-丘脑-皮质网络和小脑-丘脑-皮质网络的体积特征

Sadeghi, Fatemeh; Okar, Abdullah; Rashedi, Ronak; Gerloff, Christian; Timmann, Dagmar; Schulz, Robert; Zittel, Simone

Deep Brain Stimulation for VPS16-Related Dystonia: A Multicenter Study

深部脑刺激治疗VPS16相关肌张力障碍:一项多中心研究

Svorenova, Tatiana; Romito, Luigi M; Kaymak, Ahmet; Mulroy, Eoin; Cif, Laura; Moro, Elena; Zeuner, Kirsten E; Zittel, Simone; Petry-Schmelzer, Jan Niklas; Gruber, Doreen; Centen, Liesanne; Albanese, Alberto; Ostrozovicova, Miriama; Han, Vladimir; Magocova, Veronika; Knorovsky, Kamil; Kollova, Aurelia; Garavaglia, Barbara; Golfrè-Andreasi, Nico; Reale, Chiara; Mazzoni, Alberto; Zorzi, Giovanna; Eleopra, Roberto; Levi, Vincenzo; Foltynie, Thomas; Limousin, Patricia; Akram, Harith; Zrinzo, Ludvic; Magrinelli, Francesca; Murphy, David; Houlden, Henry; Kurian, Manju A; Baiata, Claudio; Paschen, Steffen; Lohmann, Katja; Volkmann, Jens; Hamel, Wolfgang; Barbe, Michael T; van Egmond, Martje E; Tijssen, Maj; Ambro, Lubos; Jurkova, Veronika; Jech, Robert; Havrankova, Petra; Winkelmann, Juliane; Zech, Michael; Skorvanek, Matej

RAB32-Linked Parkinson's Disease: Deep Phenotyping, MDSGene Literature Review, and Application of SynNeurGe Criteria

RAB32相关帕金森病:深度表型分析、MDSGene文献综述及SynNeurGe标准的应用

Kleinz, Teresa; Cavallieri, Francesco; Borsche, Max; Toschi, Giulia; Valzania, Franco; Fioravanti, Valentina; Valente, Enza Maria; Mitrotti, Pierfrancesco; Avenali, Micol; Zittel, Simone; Born, Rommi; Matarazzo, Michele; Di Fonzo, Alessio; Monfrini, Edoardo; Radefeldt, Mandy; Santinelli, Letizia; Griebner, Norman; Shambetova, Cholpon; Brand, Max; Gabbert, Carolin; Blauwendraat, Cornelis; Trinh, Joanne; Lohmann, Katja; Beetz, Christian; Bauer, Peter; Brüggemann, Norbert; Klein, Christine

Structure-function association of the cerebellar motor network is altered in isolated cervical dystonia

孤立性颈肌张力障碍中小脑运动网络的结构-功能关联发生改变

Grimm, Kai; Braaß, Hanna; Sadeghi, Fatemeh; Gelderblom, Mathias; Schulz, Robert; Zittel, Simone

Response to: 'Hyperbinding' in functional movement disorders: role of supplementary motor area efferent signalling

对“功能性运动障碍中的‘过度绑定’:辅助运动区传出信号的作用”的回应

Pastötter, Bernhard; Weissbach, Anne; Takacs, Adam; Moyé, Josephine; Verrel, Julius; Chwolka, Fabian; Friedrich, Julia; Paulus, Theresa; Zittel, Simone; Bäumer, Tobias; Frings, Christian; Beste, Christian; Münchau, Alexander

Atrophy of cerebellar lobule VI and primary motor cortex in cervical dystonia - a region of interest-based study

颈肌张力障碍中小脑第六叶和初级运动皮层的萎缩——一项基于感兴趣区域的研究

Grimm, Kai; Sadeghi, Fatemeh; Schön, Gerhard; Okar, Abdullah; Gelderblom, Mathias; Schulz, Robert; Zittel, Simone

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing

肌张力障碍的遗传多样性和扩展表型:来自大规模外显子组测序的启示

Thomsen, Mirja; Ott, Fabian; Loens, Sebastian; Kilic-Berkmen, Gamze; Tan, Ai Huey; Lim, Shen-Yang; Lohmann, Ebba; Schröder, Kaja M; Ipsen, Lea; Nothacker, Lena A; Welzel, Linn; Rudnik, Alexandra S; Hinrichs, Frauke; Odorfer, Thorsten; Zeuner, Kirsten E; Schumann, Friederike; Kühn, Andrea A; Zittel, Simone; Moeller, Marius; Pfister, Robert; Kamm, Christoph; Lang, Anthony E; Tay, Yi Wen; de Almeida Marcelino, Ana Luísa; Vidailhet, Marie; Roze, Emmanuel; Perlmutter, Joel S; Feuerstein, Jeanne S; Fung, Victor S C; Chang, Florence; Barbano, Richard L; Bellows, Steven; Wagle Shukla, Aparna A; Espay, Alberto J; LeDoux, Mark S; Berman, Brian D; Reich, Stephen; Deik, Andres; Franke, Andre; Wittig, Michael; Franzenburg, Sören; Volkmann, Jens; Brüggemann, Norbert; Jinnah, H A; Bäumer, Tobias; Klein, Christine; Busch, Hauke; Lohmann, Katja

The arrow of time in Parkinson's disease

帕金森病中的时间之箭

Sadeghi, Fatemeh; Agua Banyeres, Elvira Del; Pizzuti, Alessandra; Okar, Abdullah; Grimm, Kai; Gerloff, Christian; Kringelbach, Morten L; Goebel, Rainer; Zittel, Simone; Deco, Gustavo