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

Myopathy With Exercise-Induced Intolerance due to Novel Biallelic Variants in OBSCN-A Clinical, Morphological and Molecular Analysis

由OBSCN-A基因新型双等位基因变异引起的运动诱发性肌病:临床、形态学和分子分析

Krämer-Best, Heidrun H; Reis, Marlen C; Hentschel, Andreas; Weiß, Michaela; Schaiter, Alexander; Böhm, Klaus-Dieter; Roos, Andreas; Nolte, Dagmar; Schänzer, Anne

Distribution of ferritin complex in the adult brain and altered composition in neuroferritinopathy due to a novel variant in the ferritin heavy chain gene FTH1 (c.409_410del; p.H137Lfs*4)

成人脑内铁蛋白复合物的分布以及由铁蛋白重链基因 FTH1 的新变异(c.409_410del;p.H137Lfs*4)引起的神经铁蛋白病中铁蛋白复合物成分的改变

Umathum, Vincent; Weber, Axel; Amsel, Daniel; Alexopoulos, Ioannis; Becker, Christina; Roth, Angela; Günther, Andreas; Selignow, Carmen; Ritschel, Nadja; Nishimura, Anna; Schaiter, Alexander; Németh, Attila; van der Ven, Peter F M; Acker, Till; Schänzer, Anne

Molecular composition of skeletal muscle in infants and adults: a comparative proteomic and transcriptomic study

婴儿和成人骨骼肌的分子组成:比较蛋白质组学和转录组学研究

Alexander Schaiter, Andreas Hentschel, Felix Kleefeld, Julia Schuld, Vincent Umathum, Tara Procida-Kowalski, Christopher Nelke, Angela Roth, Andreas Hahn, Heidrun H Krämer, Tobias Ruck, Rita Horvath, Peter F M van der Ven, Marek Bartkuhn #, Andreas Roos #, Anne Schänzer #