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

Integrating Long-Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia

整合长读长纳米孔测序技术以精确解析肌张力障碍中的基因组变异

Sorrentino, Ugo; Pavlov, Martin; Mirza-Schreiber, Nazanin; Brugger, Melanie; Brunet, Theresa; Tsoma, Eugenia; Saparov, Alice; Dzinovic, Ivana; Harrer, Philip; Stehr, Antonia M; Wagner, Matias; Tilch, Erik; Wallacher, Barbara; Alhasan, Shiraz; Koy, Anne; Di Fonzo, Alessio; Kolnikova, Miriam; Kusikova, Katarina; Havrankova, Petra; Tautanova, Raushana; Lösecke, Sandy; Eck, Sebastian; Boesch, Sylvia; Necpal, Jan; Skorvanek, Matej; Jech, Robert; Prokisch, Holger; Winkelmann, Juliane; Oexle, Konrad; Graf, Elisabeth; Zech, Michael

Efficacy of Deep Brain Stimulation for the Treatment of Monogenic Dystonia Symptoms: A Systematic Review

深部脑刺激治疗单基因肌张力障碍症状的疗效:系统评价

Indelicato, Elisabetta; Carmona-Hidalgo, Beatriz; Quintero, Javier; Escobar, Juan Darío Ortigoza; Koy, Anne; Salamon, András; Tacik, Pawel; Muñoz-Delgado, Laura; Giannini, Giulia; Reich, Martin; Albanese, Alberto; Bäumer, Tobias; Grandas, Francisco; Jech, Robert; Leonardos, Athanasios; Mir, Pablo; Pérez-Dueñas, Belén; Perez-Sanchez, Javier Ricardo; Valldeoriola, Francesc; Zanni, Ginevra; Vidailhet, Marie; Rodríguez-López, Rocío; Blasco-Amaro, Juan Antonio; Reinhard, Carola; Boesch, Sylvia

Levodopa-Carbidopa Intestinal Gel Improves Dyskinesia in Parkinson's Disease: Post Hoc Analysis from the COSMOS Study

左旋多巴-卡比多巴肠溶凝胶改善帕金森病患者的运动障碍:COSMOS 研究的事后分析

Fasano, Alfonso; Spanaki, Cleanthe; Gurevich, Tanya; Jech, Robert; Svenningsson, Per; Szász, József; Vela-Desojo, Lydia; Simu, Mihaela; Bergmann, Lars; Saad, Abdallah; Parra, Juan Carlos; Kovács, Norbert

Ultrasonographic Detection of Fluid Collection in Parkinson's Disease Patients on Subcutaneous Infusion Therapy

超声检测接受皮下输注治疗的帕金森病患者的积液

Havránková, Petra; Kunc, Lukáš; Jech, Robert

Differential cued recall memory impairment in mild cognitive impairment due to Alzheimer's disease versus Parkinson's disease

阿尔茨海默病和帕金森病引起的轻度认知障碍在线索回忆记忆方面存在差异

Bezdicek, Ondrej; Motýl, Jiří; Nikolai, Tomáš; Mazancová, Adéla Fendrych; Hort, Jakub; Jech, Robert; Vyhnálek, Martin; Horáková, Hana

Mixed Movement Disorder Caused by ADCY5 Pathogenic Variant Successfully Treated With Caffeine: A Case From Ukraine

由ADCY5致病变异引起的混合性运动障碍,经咖啡因成功治疗:来自乌克兰的一例病例

Tsoma, Eugenia; Studeniak, Taras; Jech, Robert; Zech, Michael; Havrankova, Petra; Růžička, Evžen; Kunc, Lukas; Chomolyak, Yuriy

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.

基因组学和蛋白质组学相结合,揭示了肌张力障碍中难以捉摸的变异和巨大的病因异质性

Zech Michael, Dzinovic Ivana, Skorvanek Matej, Harrer Philip, Necpal Jan, Kopajtich Robert, Kittke Volker, Tilch Erik, Zhao Chen, Tsoma Eugenia, Sorrentino Ugo, Indelicato Elisabetta, Stehr Antonia, Saparov Alice, Abela Lucia, Adamovicova Miriam, Afenjar Alexandra, Assmann Birgit, Baloghova Janette, Baumann Matthias, Berutti Riccardo, Brezna Zuzana, Brugger Melanie, Brunet Theresa, Cogne Benjamin, Colangelo Isabel, Conboy Erin, Distelmaier Felix, Eckenweiler Matthias, Garavaglia Barbara, Geerlof Arie, Graf Elisabeth, Hackenberg Annette, Harvanova Denisa, Haslinger Bernhard, Havrankova Petra, Hoffmann Georg F, Janzarik Wibke G, Keren Boris, Kolnikova Miriam, Kolokotronis Konstantinos, Kosutzka Zuzana, Koy Anne, Krenn Martin, Krygier Magdalena, Kusikova Katarina, Maier Oliver, Meitinger Thomas, Mertes Christian, Milenkovic Ivan, Monfrini Edoardo, Santos Dias Mourao Andre, Musacchio Thomas, Nizon Mathilde, Ostrozovicova Miriam, Pavlov Martin, Prihodova Iva, Rektorova Irena, Romito Luigi M, Rybanska Barbora, Sadr-Nabavi Ariane, Schwenger Susanne, Shoeibi Ali, Sitzberger Alexandra, Smirnov Dmitrii, Svantnerova Jana, Tautanova Raushana, Toelle Sandra P, Ulmanova Olga, Vetrini Francesco, Vill Katharina, Wagner Matias, Weise David, Zorzi Giovanna, Di Fonzo Alessio, Oexle Konrad, Berweck Steffen, Mall Volker, Boesch Sylvia, Schormair Barbara, Prokisch Holger, Jech Robert, Winkelmann Juliane

Inhibition of placental trophoblast fusion by guanylate-binding protein 5

鸟苷酸结合蛋白5抑制胎盘滋养层细胞融合

Veronika Krchlikova,Elisabeth Braun,Johanna Weiss,Krystof Stafl,Lukas Jech,Smitha Srinivasachar Badarinarayan,Rishikesh Lotke,Martin Travnicek,Charlotte Baur,Paul Stark,Isabell Haussmann,Yueshuang Lu,Moritz Petersen,Wen Cui,Wei Wang,Bianca M Fäger,Hannah Reisinger,Kenzo Tokunaga,Oya Cingöz,Konstantin M J Sparrer,Madhuri S Salker,Jiri Hejnar,Frank Kirchhoff,Katerina Trejbalova,Daniel Sauter

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

Spastic Paresis: A Treatable Movement Disorder

痉挛性轻瘫:一种可治疗的运动障碍

Gracies, Jean-Michel; Alter, Katharine E; Biering-Sørensen, Bo; Dewald, Julius P A; Dressler, Dirk; Esquenazi, Alberto; Franco, Jorge Hernandez; Jech, Robert; Kaji, Ryuji; Jin, Lingjing; Lim, Erle C H; Raghavan, Preeti; Rosales, Raymond; Shalash, Ali S; Simpson, David M; Suputtitada, Areerat; Vecchio, Michele; Wissel, Jörg