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

MDS PD e-Diary: A New Patient-Centered Digital Tool in Development for People with Parkinson's Disease

MDS PD电子日记:一款正在开发中的以患者为中心的新型帕金森病患者数字工具

Rábano-Suárez, Pablo; Monje, Mariana H G; Vizcarra, Joaquín A; Paul, Serene S; Avión, Sabela; Morse, Michael; Skorvanek, Matej; Tosin, Michelle H S; Fuller, Rebecca L M; Turner, Travis H; Dekker, Marieke C J; Hall, Deborah A; Bergmann, Ken; Cedarbaum, Jesse M; Maetzler, Walter; Espay, Alberto J; Martínez-Martín, Pablo; Stebbins, Glenn T; Mestre, Tiago A; Sánchez-Ferro, Álvaro

Shared Pathogenic Pathways Between REM Sleep Behavior Disorder and Neurodegenerative and Psychiatric Disorders

快速眼动睡眠行为障碍与神经退行性疾病和精神疾病的共同致病通路

Zhang, Zhao; Somerville, Emma N; Fang, Zih-Hua; Liu, Lang; Asayesh, Farnaz; Ahmad, Jamil; Amiri, Saeid; Teferra, Meron; Dodet, Pauline; Arnulf, Isabelle; Hu, Michele T M; Desautels, Alex; Dauvilliers, Yves; Aktan-Süzgün, Merve; Ibrahim, Abubaker; Stefani, Ambra; Högl, Birgit; Gaig, Carles; Montini, Angelica; Maya, Gerard; Iranzo, Alex; Serradell, Monica; Gigli, Gian Luigi; Valente, Mariarosaria; Janes, Francesco; Bernardini, Andrea; Sonka, Karel; Kemlink, David; Dusek, Petr; Sommerauer, Michael; Röttgen, Sinah; Figorilli, Michela; Puligheddu, Monica; Mollenhauer, Brit; Trenkwalder, Claudia; Sixel-Doring, Friederike; Plazzi, Giuseppe; Biscarini, Francesco; Antelmi, Elena; De Cock, Valerie Cochen; Terzaghi, Michele; Fiamingo, Giuseppe; Heidbreder, Anna; Ferini-Strambi, Luigi; Ostrozovicova, Miriam; Skorvanek, Matej; Kulcsarova, Kristina; Buskova, Jitka; Abril, Beatriz; Orso, Beatrice; Mattioli, Pietro; Arnaldi, Dario; Boeve, Bradley F; Ju, Yo-El; Ross, Owen A; Wu, Shih-Ying; Lee, Jonghun; Prilutsky, Daria; Blauwendraat, Cornelis; Leonard, Hampton; Postuma, Ronald B; Rouleau, Guy A; Gan-Or, Ziv

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

Genome-wide association study of REM sleep behavior disorder in Parkinson's disease

帕金森病快速眼动睡眠行为障碍的全基因组关联研究

Sosero, Yuri L; Heilbron, Karl; Fontanillas, Pierre; Norcliffe-Kaufmann, Lucy; Yu, Eric; Rudakou, Uladzislau; Ruskey, Jennifer A; Freeman, Kathryn; Asayesh, Farnaz; Brolin, Kajsa A; Swanberg, Maria; Morris, Huw R; Wu, Lesley; Real, Raquel; Pihlstrøm, Lasse; Tan, Manuela; Gasser, Thomas; Brockmann, Kathrin; Liu, Hui; Hu, Michele T M; Grosset, Donald G; Lewis, Simon J G; Kwok, John B; Pastor, Pau; Alvarez, Ignacio; Skorvanek, Matej; Lackova, Alexandra; Ostrozovicova, Miriam; Rizig, Mie; Krohn, Lynne; Gan-Or, Ziv

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

Clinical Outcome Assessments for Spasticity: Review, Critique, and Recommendations

痉挛症的临床结果评估:回顾、评价和建议

Gal, Ota; Baude, Marjolaine; Deltombe, Thierry; Esquenazi, Alberto; Gracies, Jean-Michel; Hoskovcova, Martina; Rodriguez-Blazquez, Carmen; Rosales, Raymond; Satkunam, Lalith; Wissel, Jörg; Mestre, Tiago; Sánchez-Ferro, Álvaro; Skorvanek, Matej; Tosin, Michelle Hyczy de Siqueira; Jech, Robert

Expanding the Allelic and Clinical Heterogeneity of Movement Disorders Linked to Defects of Mitochondrial Adenosine Triphosphate Synthase.

扩大与线粒体腺苷三磷酸合成酶缺陷相关的运动障碍的等位基因和临床异质性

Harrer Philip, Krygier Magdalena, Krenn Martin, Kittke Volker, Danis Martin, Krastev Georgi, Saparov Alice, Pichon Virginie, Malbos Marlène, Scherer Clarisse, Dzinovic Ivana, Skorvanek Matej, Kopajtich Robert, Prokisch Holger, Silvaieh Sara, Grisold Anna, Mazurkiewicz-Bełdzińska Maria, de Sainte Agathe Jean-Madeleine, Winkelmann Juliane, Necpal Jan, Jech Robert, Zech Michael

Impact of the Recanalization Level and the First-Pass Effect on Functional Outcomes in Patients After M2 MCA Occlusion Thrombectomy

再通程度和首过效应对M2段大脑中动脉闭塞血栓切除术后患者功能预后的影响

Pataky, Stefan; Fedorko, Jakub; Pedowski, Piotr; Skorvanek, Matej; Gdovinova, Zuzana

Post-traumatic stress disorder and REM-sleep behavior disorder: exploring genetic associations and causal links

创伤后应激障碍与快速眼动睡眠行为障碍:探索遗传关联和因果关系

Ghamgosar Shahkhali, Morvarid; Liu, Lang; Ghamgosar Shahkhali, Mohammad H; Yu, Eric; Asayesh, Farnaz; Ahmad, Jamil; Teferra, Meron; Arnulf, Isabelle; Dodet, Pauline; Ju, Yo-El; Hu, Michele T M; Montplaisir, Jacques Y; Gagnon, Jean-François; Desautels, Alex; Ibrahim, Abubaker; Stefani, Ambra; Högl, Birgit; Akrtan-Süzgün, Merve; Iranzo, Alex; Serradell, Mónica; Montini, Angelica; Maya, Gerard; Gaig, Carles; Luigi Gigli, Gian; Valente, Mariarosaria; Janes, Francesco; Bernardini, Andrea; Dauvilliers, Yves; Sonka, Karel; Kemlink, David; Dusek, Petr; Sommerauer, Michael; Tamgüney, Gültekin; Figorilli, Michela; Puligheddu, Monica; Cochen De Cock, Valerie; Oertel, Wolfgang; Janzen, Annette; Antelmi, Elena; Mollenhauer, Brit; Trenkwalder, Claudia; Sixel-Doring, Friederike; Terzaghi, Michele; Fiamingo, Giuseppe; Skorvanek, Matej; Kulcsarova, Kristina; Abril, Beatriz; Charley Monaca, Christelle; Ferini-Strambi, Luigi; Bušková, Jitka; Orso, Beatrice; Mattioli, Pietro; Arnaldi, Dario; Dijkstra, Femke; Viaene, Mineke; Boeve, Bradley F; Ross, Owen A; Rouleau, Guy A; Neilson, Lee E; Elliott, Jonathan E; Lim, Miranda M; Postuma, Ronald B; Gan-Or, Ziv