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

A real-world, multicentre, epidemiological study in Czech and Slovak adults with spinal muscular atrophy treated with risdiplam

一项针对捷克和斯洛伐克成年脊髓性肌萎缩症患者的真实世界、多中心流行病学研究,这些患者均接受了利司他普拉姆治疗。

Parmova, Olesja; Prasil, Krystof; Mokra, Lenka; Svoboda, Michal; Ridzon, Petr; Junkerova, Jana; Bakosova, Lucia; Okalova, Katarina; Jurikova, Lenka; Kolnikova, Miriam; Haberlova, Jana

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

Combined action of suicide gene exosomes from pancreatic cancer-associated fibroblasts and from mesenchymal stem cells as a pancreatic ductal adenocarcinoma treatment approach

胰腺癌相关成纤维细胞和间充质干细胞来源的自杀基因外泌体联合作用作为胰腺导管腺癌的治疗方法

Jakubechova, Jana; Altanerova, Ursula; Andrezal, Michal; Vanova, Dajana; Zeleznikova, Tatiana; Bartek, Peter; Cihova, Marina; Smolkova, Bozena; Buocikova, Verona; Makovicky, Peter; Jakic, Kristina; Burikova, Monika; Urbanova, Maria; Repaska, Veronika; Spanik, Benjamin; Tomas, Miroslav; Dubovan, Peter; Kolnikova, Georgina; Zdrahal, Zbynek; Pustka, Vaclav; Potesil, David; Altaner, Cestmir

Immunohistochemical analysis of 147 cases of low-grade endometrial stromal sarcoma: refining the immunohistochemical profile of LG-ESS on a large, molecularly confirmed series

对147例低级别子宫内膜间质肉瘤进行免疫组织化学分析:基于大型分子确诊病例系列,完善低级别子宫内膜间质肉瘤的免疫组织化学特征

Flídrová, Miroslava; Dundr, Pavel; Vránková, Romana; Němejcová, Kristýna; Cibula, David; Poncová, Renata; Michalová, Květoslava; Bouda, Jiří; Laco, Jan; Ndukwe, Munachiso; Ryś, Janusz; Książek, Mariusz; Berjon, Alberto; Zapardiel, Ignacio; Franin, Ivan; Njavro, Antonela; Hausnerová, Jitka; Bretová, Petra; Židlík, Vladimír; Klát, Jaroslav; Krasznai, Zoard Tibor; Poka, Robert; Volodko, Nataliya; Yezhova, Iryna; Pilka, Radovan; Marek, Radim; Kolnikova, Georgina; Krkoška, Milan; Halaška, Michael; Drozenová, Jana; Dolinská, Dagmar; Kalist, Vladimír; Bobiński, Marcin; Ostrowska-Leśko, Marta; Bizoń, Magdalena; Sawicki, Włodzimierz; Stukan, Maciej; Grabowska, Karolina; Jędryka, Marcin; Poprawski, Tymoteusz; Stolnicu, Simona; Căpîlna, Mihai Emil; Špůrková, Zuzana; Zikán, Michal; Ciccarone, Francesca; Scambia, Giovanni; Sharashenidze, Archil; Gudadze, Miranda; Piatnytska, Tetiana; Varchak, Ihor; Kendall Bártů, Michaela

Transcriptomic profiling of pancreatic neuroendocrine tumors: dysregulation of WNT, MAPK, PI3K, neddylation pathways and potential non-invasive biomarkers

胰腺神经内分泌肿瘤的转录组分析:WNT、MAPK、PI3K、NEDDylation通路失调及潜在的非侵入性生物标志物

Niedra, Helvijs; Rogoza, Olesja; Saksis, Rihards; Peculis, Raitis; Halilova, Anzela; Gerina, Aija; Vilisova, Sofija; Senterjakova, Natalja; Pukitis, Aldis; Ruz-Caracuel, Ignacio; Earl, Julie; Kolnikova, Georgina; Dubovan, Peter; Tomas, Miroslav; Makovicky, Peter; Urbanova, Maria; Smolkova, Bozena; Koniaris, Eythimios; Aggelioudaki, Ioanna; Kataki, Agapi; Rovite, Vita

Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disorders

评估溶酶体贮积症共济失调评估和评级量表(SARA)的信度、反应性和意义

Park, Julien; Bremova-Ertl, Tatiana; Brands, Marion; Foltan, Tomas; Gautschi, Matthias; Gissen, Paul; Hahn, Andreas; Jones, Simon; Arash-Kaps, Laila; Kolnikova, Miriam; Patterson, Marc; Perlman, Susan; Ramaswami, Uma; Reichmannová, Stella; Rohrbach, Marianne; Schneider, Susanne A; Shaikh, Aasef; Sivananthan, Siyamini; Synofzik, Matthis; Walterfarng, Mark; Wibawa, Pierre; Martakis, Kyriakos; Manto, Mario

Determination of the Prevalence of Microsatellite Instability, BRAF and KRAS/NRAS Mutation Status in Patients with Colorectal Cancer in Slovakia

斯洛伐克结直肠癌患者微卫星不稳定性、BRAF和KRAS/NRAS突变状态患病率的确定

Rendek, Tomas; Saade, Rami; Pos, Ondrej; Kolnikova, Georgina; Urbanova, Monika; Budis, Jaroslav; Mihok, Luboslav; Tomas, Miroslav; Szemes, Tomas; Repiska, Vanda

Discovery of Novel TULP4/ACTN4/EWSR1/ACTB::MYB and ESRRG::DNM3 Fusions Expands Molecular Landscape of Adenoid Cystic Carcinoma Beyond Fusions Between MYB/MYBL1 and NFIB Genes

新型TULP4/ACTN4/EWSR1/ACTB::MYB和ESRRG::DNM3融合基因的发现,拓展了腺样囊性癌的分子图谱,使其超越了MYB/MYBL1和NFIB基因之间的融合。

Skálová, Alena; Klubíčková, Natálie; Bradová, Martina; Agaimy, Abbas; Rupp, Niels J; Damjanov, Ivan; Kolnikova, Georgina; Martínek, Petr; Šteiner, Petr; Grossmann, Petr; Vaněček, Tomas; Michal, Michal; Leivo, Ilmo

ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability

ATAD3A 相关小脑桥脑发育不全:新患者和对表型变异性的见解

Martina Skopkova, Hana Stufkova, Vibhuti Rambani, Viktor Stranecky, Katarina Brennerova, Miriam Kolnikova, Michaela Pietrzykova, Miloslav Karhanek, Lenka Noskova, Marketa Tesarova, Hana Hansikova, Daniela Gasperikova