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

Children with suspected hereditary spastic paraplegia clearly benefit from whole exome analysis

疑似患有遗传性痉挛性截瘫的儿童显然能从全外显子组分析中获益。

Safka Brozkova, Dana; Paulasova Schwabova, Jaroslava; Vyhnalkova, Emilie; Lassuthova, Petra; Musilova, Alena; Novotna, Ludmila; Vasova, Jana; Uhrova Meszarosova, Anna

Towards Realistic 3D-Printed Phantoms for Aneurysm Clipping: Mechanical Characterisation of Basilar Arteries

迈向用于动脉瘤夹闭术的逼真3D打印模型:基底动脉的力学特性

Buchvald, Pavel; Capek, Lukas; Hamrikova, Petra; Safka, Jiri; Vitvar, Jiri

Reanalysis of Next-Generation Sequencing Data to Detect Tandem Repeat Expansions in 1,106 Czech Probands With Neurologic Disease

对1106名捷克神经系统疾病先证者的下一代测序数据进行重新分析,以检测串联重复序列扩增。

Musilova, Alena; Lassuthova, Petra; Uhrova Meszarosova, Anna; Straka, Barbora; Krejcikova, Jana; Berounska, Anna; Vlckova, Marketa; Musova, Zuzana; Safka Brozkova, Dana

Genotype-phenotype correlations in 18 European patients with heterozygous KIF1A variants: key considerations for assessing KIF1A variant causality

18 名欧洲杂合 KIF1A 变异患者的基因型-表型相关性:评估 KIF1A 变异致病性的关键考虑因素

Uhrova Meszarosova, Anna; Galiart, Elea; Lassuthova, Petra; Kolokotronis, Konstantinos; Seidl, Benjamin; Musilova, Alena; Peckova, Anna; Takacsova, Alena; Vyhnalkova, Emilie; Grecmalova, Dagmar; Vlckova, Eva; Skutilova, Vladana; Steindl, Katharina; Rauch, Anita; Stettner, Georg M; Safka Brozkova, Dana

Dominant KPNA3 Mutations Cause Infantile-Onset Hereditary Spastic Paraplegia

KPNA3 显性突变导致婴儿发病的遗传性痉挛性截瘫

Claudia Schob, Maja Hempel, Dana Safka Brozkova, Huafang Jiang, Soo Yeon Kim, Nurit Assia Batzir, Naama Orenstein, Tatjana Bierhals, Jessika Johannsen, Anna Uhrova Meszarosova, Jong-Hee Chae, Pavel Seeman, Mathias Woidy, Fang Fang, Christian Kubisch, Stefan Kindler, Jonas Denecke

Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant

MANBA基因的c.2158-2A>G变异是捷克和斯洛伐克罗姆人遗传性听力损失和β-甘露糖苷酶缺乏症的重要且常见的病因——这是新的种族特异性变异的证据。

Safka Brozkova, Dana; Varga, Lukas; Uhrova Meszarosova, Anna; Slobodova, Zuzana; Skopkova, Martina; Soltysova, Andrea; Ficek, Andrej; Jencik, Jan; Lastuvkova, Jana; Gasperikova, Daniela; Seeman, Pavel

An early warning system to predict and mitigate wheat rust diseases in Ethiopia

埃塞俄比亚小麦锈病早期预警系统,用于预测和减轻小麦锈病

Allen-Sader, Clare; Thurston, William; Meyer, Marcel; Nure, Elias; Bacha, Netsanet; Alemayehu, Yoseph; Stutt, Richard O J H; Safka, Daniel; Craig, Andrew P; Derso, Eshetu; Burgin, Laura E; Millington, Sarah C; Hort, Matthew C; Hodson, David P; Gilligan, Christopher A

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies

HARS基因功能丧失突变会导致一系列遗传性周围神经病。

Safka Brozkova, Dana; Deconinck, Tine; Griffin, Laurie Beth; Ferbert, Andreas; Haberlova, Jana; Mazanec, Radim; Lassuthova, Petra; Roth, Christian; Pilunthanakul, Thanita; Rautenstrauss, Bernd; Janecke, Andreas R; Zavadakova, Petra; Chrast, Roman; Rivolta, Carlo; Zuchner, Stephan; Antonellis, Anthony; Beg, Asim A; De Jonghe, Peter; Senderek, Jan; Seeman, Pavel; Baets, Jonathan