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

Opposing roles of pseudokinases NRBP1 and NRBP2 in regulating L1 retrotransposition.

假激酶 NRBP1 和 NRBP2 在调节 L1 逆转座中起相反的作用

Yang Wei, Cong Shaobo, Li Ruoyao, Schwarz Jennifer, Schulze Thilo, Gevelhoff Raban A, Chen Xinyan, Ullrich Sara, Falkenstein Kristina, Ott Denis, Eixmann Pia, Trentino Angelica, Thien Antje, Heidmann Thierry, Schulze Ekkehard, Warscheid Bettina, Baumeister Ralf, Qi Wenjing

A Novel Missense Variant in Ultrarare SLC35A1-CDG Alters Cellular Glycosylation, Lipid, and Energy Metabolism Without Affecting CDG Serum Markers.

罕见SLC35A1-CDG中的一种新型错义变异会改变细胞糖基化、脂质和能量代谢,但不影响CDG血清标志物

Falkenstein Kristina, Hoeren Lukas, Kikul Frauke, Poschet Gernot, Lüchtenborg Christian, Brecht Ines B, Falb Ruth, Gauck Darja, Haack Tobias, Hecker Andreas, Himmelreich Nastassja, Okun Jürgen G, Brügger Britta, Thiel Christian

International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management

磷酸葡萄糖变位酶1缺乏症(PGM1-CDG)国际共识指南:诊断、随访和治疗

Altassan, Ruqaiah; Radenkovic, Silvia; Edmondson, Andrew C; Barone, Rita; Brasil, Sandra; Cechova, Anna; Coman, David; Donoghue, Sarah; Falkenstein, Kristina; Ferreira, Vanessa; Ferreira, Carlos; Fiumara, Agata; Francisco, Rita; Freeze, Hudson; Grunewald, Stephanie; Honzik, Tomas; Jaeken, Jaak; Krasnewich, Donna; Lam, Christina; Lee, Joy; Lefeber, Dirk; Marques-da-Silva, Dorinda; Pascoal, Carlota; Quelhas, Dulce; Raymond, Kimiyo M; Rymen, Daisy; Seroczynska, Malgorzata; Serrano, Mercedes; Sykut-Cegielska, Jolanta; Thiel, Christian; Tort, Frederic; Vals, Mari-Anne; Videira, Paula; Voermans, Nicol; Witters, Peter; Morava, Eva