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Matěj Škorvánek

department of neurology

28H指数
151论文数
2.8K被引数
收录论文 72
发表时间
Update on Genetic Chorea
err2026-07-04
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errMiriam Ostrozovicova; Matej Skorvanek
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Essential Genetic Testing in Movement Disorders – results from a Delphi study运动障碍疾病中必要的基因检测——德尔菲研究的结果
err2026-05-22
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errVanessa Carvalho; Leonor Correia Guedes; Emilia Gatto; Mayela Rodriguez-Violante; Christine Klein; Federico Rodriguez-Porcel; Francesca Morgante; Malco Rossi; Marcelo Miranda; Christos Ganos; Giulietta M. Riboldi; Martin Cesarini; Alejandra Darling; Matej Skorvanek; Bart van de Warrenburg; Ali Shalash; Giovanni Cossu; Jennifer Friedman; Alberto Albanese; Adriana Cardozo
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Genetic associations between post-traumatic stress disorder and REM-sleep behavior disorder创伤后应激障碍与快速眼动睡眠行为障碍之间的遗传关联
err2026-05-21
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errMorvarid Ghamgosar Shahkhali; Lang Liu; Mohammad H. Ghamgosar Shahkhali; Eric Yu; Farnaz Asayesh; Jamil Ahmad; Meron Teferra; Isabelle Arnulf; Pauline Dodet; Yo-El Ju; Michele T. M. Hu; Jacques Y. Montplaisir; Jean-François Gagnon; Alex Desautels; Abubaker Ibrahim; Ambra Stefani; Birgit Högl; Merve Aktan-Süzgün; Alex Iranzo; Mónica Serradell; Angelica Montini; Gerard Maya; Carles Gaig; Gian Luigi Gigli; Mariarosaria Valente; Francesco Janes; Andrea Bernardini; Yves Dauvilliers; Karel Sonka; David Kemlink; Petr Dusek; Michael Sommerauer; Gültekin Tamgüney; Michela Figorilli; Monica Puligheddu; Valerie Cochen De Cock; Wolfgang Oertel; Annette Janzen; Elena Antelmi; Brit Mollenhauer; Friederike Sixel-Doring; Michele Terzaghi; Giuseppe Fiamingo; Matej Skorvanek; Kristina Kulcsarova; Beatriz Abril; Luigi Ferini-Strambi; Jitka Bušková; Beatrice Orso; Pietro Mattioli; Dario Arnaldi; Femke Dijkstra; Mineke Viaene; Bradley F. Boeve; Owen A. Ross; Guy A. Rouleau; Lee E. Neilson; Jonathan E. Elliott; Miranda M. Lim; Ronald B. Postuma; Ziv Gan-Or
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Long-Term Benefit of GPi-DBS in Two Siblings with BCL11B-Related Dystonia: An Uncommon but Potentially Treatable ConditionGPi-DBS治疗BCL11B相关肌张力障碍的长期获益:一种罕见但潜在可治疗的疾病
err2026-04-02
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PREAI
errVeronika Magocova MD, PhD; Tatiana Svorenova MD PhD; Vladimir Han MD, PhD; Jan Bánoci MD, PhD; Vladimír Kaťuch MD, PhD; Aurelia Kollova MD, PhD; Kamil Knorovsky MD, PhD; Miriam Ostrozovicova MD, PhD; Michael Zech MD, PhD; Matej Skorvanek MD, PhD
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Collaborative Genomics for Dystonia in Central and Eastern Europe: Successes Achieved, New Frontiers Ahead中欧和东欧肌张力障碍的协作基因组学研究:已取得的成就,新的前沿在望
err2026-04-02
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errRobert Jech MD, PhD; Petra Havránková MD, PhD; Eugenia Tsoma MD; Lukáš Kunc MD; Tomáš Krajča MD; Ján Necpál MD; Olga Ulmanová MD, PhD; Aleksandra Tomic MD; Ivana Dzinovic PhD; Irena Rektorová MD, PhD; Marek Baláž MD; Tereza Serranová MD; Stanislava Jaselska MD; Maria Giertlova MD; Kristina Kulcsarova MD; Alexandra Lackova MD; Denisa Harvanova MD; Miriam Ostrozovicova MD; Vladimir Han MD; GenDy Collaborators; Matej Škorvánek MD, PhD; Michael Zech MD
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Clinical Outcome Assessments for Functional Performance in Spastic Paresis: Systematic Review, Critique, and Recommendations痉挛性轻瘫功能表现的临床结局评估:系统综述、批判与建议
err2026-03-30
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errMartina Hoskovcova MD, PhD; Marjolaine Baude MD, PhD; Bo Biering-Sørensen MD, NDAPM, MPG; Ota Gal PhD; Mary P Galea PhD, FAHMS; Jean-Michel Gracies MD, PhD; Carmen Rodriguez-Blazquez PhD; Theodore Wein MD; Michelle Hyczy de Siqueira Tosin PhD, MSN; Álvaro Sánchez-Ferro MD, PhD; Tiago A Mestre MD, PhD; Matej Skorvanek MD, PhD; Robert Jech MD, PhD; The members of the MDS Clinical Outcome Assessments Scientific Evaluation Committee and MDS Spasticity Study Group
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Expanding the Phenotypic Spectrum of the Recurrent De Novo FBXO31 p.Asp334Asn Variant: Evidence for a Novel Neurodevelopmental Disorder (Kruer Syndrome)扩展FBXO31 p.Asp334Asn复发性新发变异的表型谱:新神经发育障碍(Kruer综合征)的证据
err2026-03-01
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PREAI
errGalaz-montoya, Carolina I.; Lewis, Sara A.; Galindo, Maureen K.; Cornejo, Patricia; Skidmore, Peter T.; Bisarad, Pritha; Magee, Helen; Bontempo, Kelly; Keren, Boris; Afenjar, Alexandra; Skorvanek, Matej; Zech, Michael; Wentzensen, Ingrid M.; Gurnett, Christina A.; Chung, Wendy K.; Bakhtiari, Somayeh; Kruer, Michael C.
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Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort成纤维细胞转录组学在综合肌张力障碍队列分子诊断中的应用
err2026-02-02
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errAlice Saparov MSc; Ivana Dzinovic PhD; Theresa Brunet MD; Vicente A. Yépez PhD; Florian Hölzlwimmer PhD; Elisabetta Indelicato MD; Birgit Assmann MD; Susann Badmann MD; Diana Ballhausen MD; Steffen Berweck MD; Felix Brechtmann PhD; Melanie Brugger MD; Kevork Derderian MSc; Felix Distelmaier MD; Philip Harrer MD, PhD; Denisa Harvanova PhD; Petra Havrankova MD, PhD; Ann-Kathrin Jaroszynski; Miriam Kolnikova MD; Robert Kopajtich MSc; Anne Koy MD; Magdalena Krygier MD; Lukas Kunc MD; Katarina Kusikova MD; Oliver Maier MD; Maria Mazurkiewicz-Bełdzińska MD; Christian Mertes PhD; Ava Oberlack MD; Timo Roser MD; Alexandra Sitzberger MD; Ugo Sorrentino MD; Antonia M. Stehr MD; Katharina Vill MD; Matias Wagner MD; Holger Prokisch PhD; Sylvia Boesch MD, PhD; Jan Necpal MD, PhD; Robert Jech MD, PhD; Juliane Winkelmann MD; Elisabeth Graf PhD; Julien Gagneur PhD; Matej Skorvanek MD, PhD; Michael Zech MD
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When Proteins Go MAD—Misfolded, Amplified, Detected: Advances in α-Synuclein Pathophysiology and RT-QuIC Detection当蛋白质“发疯”——错误折叠、扩增、检测:《α-突触核蛋白病理生理学和RT-QuIC检测的进展》
err2026-01-09
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errNaďa Labajová; Adam Polák; Ondrej Cehlár; Pavle Križan; Jozef Hritz; Martin Kolisek; Matej Škorvánek; Rostislav Škrabana; Branislav Kovačech; Norbert Žilka
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MDS PD e-Diary: A New Patient-Centered Digital Tool in Development for People with Parkinson's DiseaseMDS PD e-Diary:为帕金森病患者开发的一种新型以患者为中心的数字工具
err2025-12-01
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errRabano-suarez, Pablo; Monje, Mariana H. G.; Vizcarra, Joaquin A.; Paul, Serene S.; Avion, 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.; Martinez-Martin, Pablo; Stebbins, Glenn T.; Mestre, Tiago A.; Sanchez-Ferro, Alvaro
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Clinical Outcome Assessments in Parkinson's Disease: A Scoping Review of Current Rating Scales and Future Needs帕金森病中的临床结局评估:当前评分量表与未来需求的范围综述
err2025-10-29
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errEvita Papathoma MD, PhD; Panagiota Tsitsi MD, PhD; Nirosen Vijiaratnam MD, FRCP, PhD; Camila Aquino MD, MSc, PhD; Stephen R. Duma PhD, FRACP; Norbert Kovacs MD, PhD; Kigocha Lameck Okeng'o MD, MMed, MSc; Aparna Wagle Shukla MD; Roongroj Bhidayasiri MD, FRCP, FRCPI; Tiago A. Mestre MD, PhD; Alvaro Sanchez Ferro MD, PhD; Alberto J. Espay MD, MSc, FAAN; Michelle H.S. Tosin MSN, PhD; Matej Skorvanek MD, PhD; Ioanna Markaki MD, PhD
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Tracking prodromal Parkinson’s disease: a five-year follow-up of the PARCAS cohort追踪前驱期帕金森病:PARCAS队列的五年随访研究
err2025-10-01
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errKristina Kulcsarova; Petronela Christova; Martina Bekeova; Sona Muranska; Sona Mrazova; Zuzana Mrazova; Barbora Zecova; Filip Faglic; Simona Suvakova; Norbert Lesko; Laura Gombosova; Zuzana Gdovinova; Matej Skorvanek
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Genome-wide association study of REM sleep behavior disorder in Parkinson’s disease帕金森病中快速眼动睡眠行为障碍的全基因组关联研究
err2025-09-25
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errYuri L. Sosero; Karl Heilbron; Pierre Fontanillas; Lucy Norcliffe-Kaufmann; Eric Yu; Uladzislau Rudakou; Jennifer A. Ruskey; Kathryn Freeman; Farnaz Asayesh; Kajsa A. Brolin; Maria Swanberg; Huw R. Morris; Lesley Wu; Raquel Real; Lasse Pihlstrøm; Manuela Tan; Thomas Gasser; Kathrin Brockmann; Hui Liu; Michele T. M. Hu; Donald G. Grosset; Simon J. G. Lewis; John B. Kwok; Pau Pastor; Ignacio Alvarez; Matej Skorvanek; Alexandra Lackova; Miriam Ostrozovicova; Mie Rizig; Lynne Krohn; Ziv Gan-Or
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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
err2025-09-01
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errSorrentino, 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; Losecke, Sandy; Eck, Sebastian; Boesch, Sylvia; Necpal, Jan; Skorvanek, Matej; Jech, Robert; Prokisch, Holger; Winkelmann, Juliane; Oexle, Konrad; Graf, Elisabeth; Zech, Michael
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Attention/Working Memory and Executive Function in Parkinson's Disease: Review, Critique, and Recommendations注意/工作记忆与执行功能在帕金森病中的研究:综述、评述与建议
err2025-07-18
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errRoberta Biundo PhD; Ondrej Bezdicek PhD; Davide Maria Cammisuli PhD; Brenna Cholerton PhD; John C. Dalrymple-Alford PhD; Nicola Edelstyn PhD; Eleonora Fiorenzato PhD; Erin Holker PhD; Saul Martinez-Horta PhD; Alice Martini PhD; Gabriella Santangelo PhD; Barbara Segura PhD; Chiara Siri PhD; Alexander Tröster PhD; Tiago A. Mestre PhD; Álvaro Sánchez Ferro MD, PhD; Michelle Hyczy de Siqueira Tosin PhD; Matej Skorvanek MD, PhD; Daniel Weintraub MD; Gert J. Geurtsen PhD; and the members of the MDS Clinical Outcome Assessment Scientific Evaluation Committee
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How leaky is the gut in Parkinson’s disease?肠道在帕金森病中有多“渗漏”?
err2025-06-03
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PREAI
errPascal Derkinderen; François Cossais; Kristína Kulcsárová; Matej Škorvánek; Loïc Sellier-Montaigne; Emmanuel Coron; Laurène Leclair-Visonneau; Silvia Cerri; Carolina Pellegrini; Malvyne Rolli-Derkinderen
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Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia整合基因组学和蛋白质组学揭示了肌张力障碍中难以捉摸的变异和广泛的病因异质性
errBRAIN
IF11.7
err2025-05-01
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errZech, 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; Mourao, Andre Santos Dias; 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
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Prevalence and Clinical Characteristics of the LRRK2 p.L1795F Variant in Central Europeans with Early-Onset and Familial Parkinson's DiseaseLRRK2 p.L1795F变异在早发型及家族性帕金森病中欧患者中的患病率及临床特征
err2025-03-22
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errMiriam Ostrozovicova MD; Gertrud Tamas MD, PhD; Agsha Atputhavadivel MSc; Petr Dusek MD, PhD; Milan Grofik MD, PhD; Vladimir Han MD, PhD; Petr Holly MD; Robert Jech MD, PhD; Katarina Kalinova PhD; Peter Klivenyi MD, PhD; Norbert Kovacs MD, PhD; Kristina Kulcsarova MD, PhD; Egon Kurca MD, PhD; Alexandra Lackova MD, PhD; Hamin Lee MSc; Patrick Lewis PhD; Veronika Magocova MD; Maria Marekova PhD; David Murphy MSc; Ai Nagano PhD; Jan Necpal MD; David Pinter MD, PhD; Miroslava Rabajdova PhD; Evzen Ruzicka MD, PhD; Tereza Serranova MD, PhD; Katarzyna Smilowska MD, PhD; Krisztina Soos MD; Igor Straka MD, PhD; Tatiana Svorenova MD; Peter Valkovic MD, PhD; Katerina Zarubova MD; Zuzana Gdovinova MD, PhD; Henry Houlden MD, PhD; Mie Rizig MD, PhD; Matej Skorvanek MD, PhD; the CEGEMOD consortium
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