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

EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations

脑桥小脑发育不全1型中的EXOSC3突变:新的突变和基因型-表型相关性

Eggens, Veerle Rc; Barth, Peter G; Niermeijer, Jikke-Mien F; Berg, Jonathan N; Darin, Niklas; Dixit, Abhijit; Fluss, Joel; Foulds, Nicola; Fowler, Darren; Hortobágyi, Tibor; Jacques, Thomas; King, Mary D; Makrythanasis, Periklis; Máté, Adrienn; Nicoll, James A R; O'Rourke, Declan; Price, Sue; Williams, Andrew N; Wilson, Louise; Suri, Mohnish; Sztriha, Laszlo; Dijns-de Wissel, Marit B; van Meegen, Mia T; van Ruissen, Fred; Aronica, Eleonora; Troost, Dirk; Majoie, Charles Blm; Marquering, Henk A; Poll-Thé, Bwee Tien; Baas, Frank

Differential activity of NADPH-producing dehydrogenases renders rodents unsuitable models to study IDH1R132 mutation effects in human glioblastoma

由于 NADPH 生成脱氢酶活性存在差异,啮齿动物不适合作为研究 IDH1R132 突变对人类胶质母细胞瘤影响的模型。

Atai, Nadia A; Renkema-Mills, Nynke A; Bosman, Joost; Schmidt, Nadja; Rijkeboer, Denise; Tigchelaar, Wikky; Bosch, Klazien S; Troost, Dirk; Jonker, Ard; Bleeker, Fonnet E; Miletic, Hrvoje; Bjerkvig, Rolf; De Witt Hamer, Philip C; Van Noorden, Cornelis J F

Steroid responsive encephalopathy in cerebral amyloid angiopathy: a case report and review of evidence for immunosuppressive treatment

类固醇反应性脑病合并脑淀粉样血管病:病例报告及免疫抑制治疗证据综述

Kloppenborg, Raoul P; Richard, Edo; Sprengers, Marieke E S; Troost, Dirk; Eikelenboom, Piet; Nederkoorn, Paul J

The prognostic IDH1( R132 ) mutation is associated with reduced NADP+-dependent IDH activity in glioblastoma

胶质母细胞瘤中预后相关的IDH1(R132)突变与NADP+依赖性IDH活性降低有关

Bleeker, Fonnet E; Atai, Nadia A; Lamba, Simona; Jonker, Ard; Rijkeboer, Denise; Bosch, Klazien S; Tigchelaar, Wikky; Troost, Dirk; Vandertop, W Peter; Bardelli, Alberto; Van Noorden, Cornelis J F

Absence of AKT1 mutations in glioblastoma

胶质母细胞瘤中不存在AKT1突变

Bleeker, Fonnet E; Lamba, Simona; Zanon, Carlo; van Tilborg, Angela A; Leenstra, Sieger; Troost, Dirk; Hulsebos, Theo; Vandertop, W Peter; Bardelli, Alberto

TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions.

TDP-43 在伴有泛素包涵体的家族性和散发性额颞叶变性中的作用

Cairns Nigel J, Neumann Manuela, Bigio Eileen H, Holm Ida E, Troost Dirk, Hatanpaa Kimmo J, Foong Chan, White Charles L 3rd, Schneider Julie A, Kretzschmar Hans A, Carter Deborah, Taylor-Reinwald Lisa, Paulsmeyer Katherine, Strider Jeffrey, Gitcho Michael, Goate Alison M, Morris John C, Mishra Manjari, Kwong Linda K, Stieber Anna, Xu Yan, Forman Mark S, Trojanowski John Q, Lee Virginia M-Y, Mackenzie Ian R A