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

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

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

Prevalence and Clinical Characteristics of the LRRK2 p.L1795F Variant in Central Europeans with Early-Onset and Familial Parkinson's Disease

LRRK2 p.L1795F 变异在中欧早发性和家族性帕金森病患者中的患病率和临床特征

Ostrozovicova, Miriam; Tamas, Gertrud; Atputhavadivel, Agsha; Dusek, Petr; Grofik, Milan; Han, Vladimir; Holly, Petr; Jech, Robert; Kalinova, Katarina; Klivenyi, Peter; Kovacs, Norbert; Kulcsarova, Kristina; Kurca, Egon; Lackova, Alexandra; Lee, Hamin; Lewis, Patrick; Magocova, Veronika; Marekova, Maria; Murphy, David; Nagano, Ai; Necpal, Jan; Pinter, David; Rabajdova, Miroslava; Ruzicka, Evzen; Serranova, Tereza; Smilowska, Katarzyna; Soos, Krisztina; Straka, Igor; Svorenova, Tatiana; Valkovic, Peter; Zarubova, Katerina; Gdovinova, Zuzana; Houlden, Henry; Rizig, Mie; Skorvanek, Matej

Dystonia and mitochondrial disease: the movement disorder connection revisited in 900 genetically diagnosed patients

肌张力障碍和线粒体疾病:对900名基因诊断患者运动障碍关联的重新审视

Indelicato, Elisabetta; Schlieben, Lea D; Stenton, Sarah L; Boesch, Sylvia; Skorvanek, Matej; Necpal, Jan; Jech, Robert; Winkelmann, Juliane; Prokisch, Holger; Zech, Michael

Central European Group on Genetics of Movement Disorders

中欧运动障碍遗传学研究组

Ostrozovicova, Miriam; Dusek, Petr; Grofik, Milan; Han, Vladimir; Holly, Petr; Jech, Robert; Klivenyi, Peter; Kovacs, Norbert; Kulcsarova, Kristina; Kurca, Egon; Lackova, Alexandra; Magocova, Veronika; Necpal, Jan; Pinter, David; Ruzicka, Evzen; Serranova, Tereza; Smilowska, Katarzyna; Straka, Igor; Svorenova, Tatiana; Tamas, Gertrud; Valkovic, Peter; Zarubova, Katerina; Houlden, Henry; Rizig, Mie; Skorvanek, Matej

Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant

肌阵挛和肌张力障碍是SCA21相关TMEM240 p.Pro170Leu变异患者的复发性首发症状

Sorrentino, Ugo; Romito, Luigi M; Garavaglia, Barbara; Fichera, Mario; Colangelo, Isabel; Prokisch, Holger; Winkelmann, Juliane; Necpal, Jan; Jech, Robert; Zech, Michael

p.L1795F LRRK2 variant is a common cause of Parkinson's disease in Central Europe.

p.L1795F LRRK2 变异是中欧地区帕金森病的常见病因

Ostrozovicova Miriam, Tamas Gertrud, Dušek Petr, Grofik Milan, Han Vladimir, Holly Petr, Jech Robert, Kalinova Katarina, Klivenyi Peter, Kovacs Norbert, Kulcsarova Kristina, Kurca Egon, Lackova Alexandra, Lee Hamin, Lewis Patrick, Magocova Veronika, Marekova Maria, Murphy David, Necpal Jan, Pinter David, Rabajdova Miroslava, Růžička Evžen, Serranova Tereza, Smilowska Katarzyna, Soos Krisztina, Straka Igor, Svorenova Tatiana, Valkovic Peter, Zarubova Katerina, Gdovinova Zuzana, Houlden Henry, Rizig Mie, Skorvanek Matei

Skin Conditions and Movement Disorders: Hiding in Plain Sight

皮肤疾病和运动障碍:隐藏在眼皮底下的疾病

Kulcsarova, Kristina; Baloghova, Janette; Necpal, Jan; Skorvanek, Matej

Correction: A case of novel DYT6 dystonia variant with serious complications after deep brain stimulation therapy: a case report

更正:一例新型DYT6肌张力障碍变异型患者在接受深部脑刺激治疗后出现严重并发症:病例报告

Grofik, M; Cibulka, M; Olekšakova, J; Turčanova Koprušakova, M; Galanda, T; Necpal, J; Jungova, P; Kurča, E; Winkelmann, J; Zech, M; Jech, R