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

Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis

编码半胱氨酸串蛋白α的DNAJC5基因突变会导致常染色体显性遗传的成人发病型神经元蜡样脂褐质沉积症。

Nosková, Lenka; Stránecký, Viktor; Hartmannová, Hana; Přistoupilová, Anna; Barešová, Veronika; Ivánek, Robert; Hůlková, Helena; Jahnová, Helena; van der Zee, Julie; Staropoli, John F; Sims, Katherine B; Tyynelä, Jaana; Van Broeckhoven, Christine; Nijssen, Peter C G; Mole, Sara E; Elleder, Milan; Kmoch, Stanislav

Disruption of a Ciliary B9 Protein Complex Causes Meckel Syndrome

纤毛B9蛋白复合物的破坏导致梅克尔综合征

Reich, David; Patterson, Nick; Kircher, Martin; Delfin, Frederick; Nandineni, Madhusudan R; Pugach, Irina; Ko, Albert Min-Shan; Ko, Ying-Chin; Jinam, Timothy A; Phipps, Maude E; Saitou, Naruya; Wollstein, Andreas; Kayser, Manfred; Pääbo, Svante; Stoneking, Mark; Bungartz, Kathryn D; Nosková, Lenka; Stránecký, Viktor; Hartmannová, Hana; Přistoupilová, Anna; Barešová, Veronika; Ivánek, Robert; Hůlková, Helena; Jahnová, Helena; van der Zee, Julie; Staropoli, John F; Sims, Katherine B; Tyynelä, Jaana; Van Broeckhoven, Christine; Nijssen, Peter CG; Mole, Sara E; Elleder, Milan; Kmoch, Stanislav; Garber, Kathryn B; Dowdle, William E; Robinson, Jon F; Kneist, Andreas; Sirerol-Piquer, M Salomé; Frints, Suzanna GM; Corbit, Kevin C; Zaghloul, Norann A; van Lijnschoten, Gesina; Mulders, Leon; Verver, Dideke E; Zerres, Klaus; Reed, Randall R; Attié-Bitach, Tania; Johnson, Colin A; García-Verdugo, José Manuel; Katsanis, Nicholas; Bergmann, Carsten; Reiter, Jeremy F

Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries

异常的非储存性毛细血管内皮:戈谢病的一个新特征。真皮毛细血管的超微结构研究

Hůlková, Helena; Poupetová, Helena; Harzer, Klaus; Mistry, Pramod; Aerts, Johannes M F G; Elleder, Milan

The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations

捷克共和国溶酶体贮积症的出生患病率:与不同人群数据的比较

Poupetová, Helena; Ledvinová, Jana; Berná, Linda; Dvoráková, Lenka; Kozich, Viktor; Elleder, Milan

Adipocytes participate in storage in α-galactosidase deficiency (Fabry disease)

脂肪细胞参与α-半乳糖苷酶缺乏症(法布里病)的储存过程。

Hůlková, Helena; Elleder, Milan

Cystathionine beta-synthase null homocystinuric mice fail to exhibit altered hemostasis or lowering of plasma homocysteine in response to betaine treatment

胱硫醚β-合成酶基因敲除的同型半胱氨酸尿症小鼠在接受甜菜碱治疗后,无法表现出止血功能改变或血浆同型半胱氨酸水平降低。

Maclean, Kenneth N; Sikora, Jakub; Kožich, Viktor; Jiang, Hua; Greiner, Lori S; Kraus, Eva; Krijt, Jakub; Crnic, Linda S; Allen, Robert H; Stabler, Sally P; Elleder, Milan; Kraus, Jan P

Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency.

非典型 CLN2 发病较晚且病程延长:一项神经病理学研究表明神经元亚群对 TPP1 缺乏的敏感性不同

Elleder Milan, Dvoráková Lenka, Stolnaja Larisa, Vlásková Hana, Hůlková Helena, Druga Rastislav, Poupetová Helena, Kostálová Eva, Mikulástík Josef

Replacement of alpha-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients

法布里病中α-半乳糖苷酶A替代疗法:对成纤维细胞培养物与治疗患者活检组织的影响比较

Keslová-Veselíková, Jana; Hůlková, Helena; Dobrovolný, Robert; Asfaw, Befekadu; Poupetová, Helena; Berná, Linda; Sikora, Jakub; Golán, Lubor; Ledvinová, Jana; Elleder, Milan

Neurolysosomal pathology in human prosaposin deficiency suggests essential neurotrophic function of prosaposin

人类前蛋白酶缺乏症中的神经溶酶体病理学表明前蛋白酶具有重要的神经营养功能。

Sikora, Jakub; Harzer, Klaus; Elleder, Milan

Enhanced expression of manganese-dependent superoxide dismutase in human and sheep CLN6 tissues

人和绵羊CLN6组织中锰依赖性超氧化物歧化酶表达增强

Heine, Claudia; Tyynelä, Jaana; Cooper, Jonathan D; Palmer, David N; Elleder, Milan; Kohlschütter, Alfried; Braulke, Thomas