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

De novo protein-coding gene variants in developmental stuttering

发育性口吃中的新生蛋白质编码基因变异

Eising, Else; Dzinovic, Ivana; Vino, Arianna; Stipdonk, Lottie; Pavlov, Martin; Winkelmann, Juliane; Sommer, Martin; Franken, Marie-Christine J P; Oexle, Konrad; Fisher, Simon E

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

Dystonia: Insights into Mechanisms and Novel Therapeutics

肌张力障碍:机制及新型疗法的深入研究

Dzinovic, Ivana; 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

An in vitro study on the antimicrobial efficacy of a calcium hydroxide versus a calcium silicate-based endodontic medicament

体外研究氢氧化钙与硅酸钙基根管治疗药物的抗菌功效

Jana, Dheepthi; Dzinovic, Eda; Almaroof, Ahmed; Mehta, Dipti; Elsharkawy, Sherif; Deb, Sanjukta; Niazi, Sadia

Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction

与 EIF4A2 单倍体不足相关的肌张力障碍:一种蛋白质翻译功能障碍

Philip Harrer, Matej Škorvánek, Volker Kittke, Ivana Dzinovic, Friederike Borngräber, Mirja Thomsen, Vanessa Mandel, Tatiana Svorenova, Miriam Ostrozovicova, Kristina Kulcsarova, Riccardo Berutti, Hauke Busch, Fabian Ott, Robert Kopajtich, Holger Prokisch, Kishore R Kumar, Niccolo E Mencacci, Manju

Challenges in Establishing the Diagnosis of PRRT2-Related Dystonia: Recurrent Pathogenic Variants in a Homopolymeric Stretch

PRRT2相关肌张力障碍诊断的挑战:同聚物链中反复出现的致病变异

Dzinovic, Ivana; Graf, Elisabeth; Brugger, Melanie; Berutti, Riccardo; Příhodová, Iva; Blaschek, Astrid; Winkelmann, Juliane; Jech, Robert; Vill, Katharina; Zech, Michael

Variant recurrence confirms the existence of a FBXO31-related spastic-dystonic cerebral palsy syndrome

变异复发证实了FBXO31相关痉挛-肌张力障碍性脑瘫综合征的存在。

Dzinovic, Ivana; Škorvánek, Matej; Pavelekova, Petra; Zhao, Chen; Keren, Boris; Whalen, Sandra; Bakhtiari, Somayeh; Chih Jin, Sheng; Kruer, Michael C; Jech, Robert; Winkelmann, Juliane; Zech, Michael

Epidemiological Features of Bronchiolitis in the Pediatric Clinic of Clinical center of Sarajevo University

萨拉热窝大学临床中心儿科门诊毛细支气管炎的流行病学特征

Bakalovic, Ganimeta; Dzinovic, Amra; Baljic, Rusmir; Dizdar, Selma; Selimovic, Amina