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

Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxia

ESRRG基因变异与一种显性遗传的非进行性先天性运动障碍伴共济失调有关。

Bresack, Brandon; Kohl, Laura Renée; Afenjar, Alexandra; Audic, Frédérique; Burglen, Lydie; Charles, Perrine; Dundar, Nihal Olgac; van de Kamp, Jiddeke; Machol, Keren; Magoulas, Pilar; Goze-Martineau, Odile; Motazacker, Mahdi; Philippi, Heike; Reyes, Alejandra; Tutakhel, Omar A Z; Bertoli-Avella, Aida; Sticht, Heinrich; Abou Jamra, Rami; Oppermann, Henry

SMDT1 variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement

SMDT1 变异会损害肌肉受累患者的 EMRE 介导的线粒体钙摄取

Elianne P Bulthuis, Merel J W Adjobo-Hermans, Bastiaan de Potter, Saskia Hoogstraten, Lisanne H T Wezendonk, Omar A Z Tutakhel, Liesbeth T Wintjes, Bert van den Heuvel, Peter H G M Willems, Erik-Jan Kamsteeg, M Estela Rubio Gozalbo, Suzanne C E H Sallevelt, Suzanne M Koudijs, Joost Nicolai, Charlott

Comparing Approaches to Normalize, Quantify, and Characterize Urinary Extracellular Vesicles

比较尿液细胞外囊泡的标准化、量化和表征方法

Charles J Blijdorp, Omar A Z Tutakhel, Thomas A Hartjes, Thierry P P van den Bosch, Martijn H van Heugten, Juan Pablo Rigalli, Rob Willemsen, Usha M Musterd-Bhaggoe, Eric R Barros, Roger Carles-Fontana, Cristian A Carvajal, Onno J Arntz, Fons A J van de Loo, Guido Jenster, Marian C Clahsen-van Groni

A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction

COX16基因的一种新变异会导致细胞色素c氧化酶缺乏症、严重的致命性新生儿乳酸性酸中毒、脑病、心肌病和肝功能障碍。

Wintjes, Liesbeth T M; Kava, Maina; van den Brandt, Frans A; van den Brand, Mariël A M; Lapina, Oksana; Bliksrud, Yngve T; Kulseth, Mari A; Amundsen, Silja S; Selberg, Terje R; Ybema-Antoine, Marion; Tutakhel, Omar A Z; Greed, Lawrence; Thorburn, David R; Tangeraas, Trine; Balasubramaniam, Shanti; Rodenburg, Richard J T

Effects of a high-sodium/low-potassium diet on renal calcium, magnesium, and phosphate handling

高钠/低钾饮食对肾脏钙、镁和磷酸盐处理的影响

Jenny van der Wijst, Omar A Z Tutakhel, Caro Bos, Alexander H J Danser, Ewout J Hoorn, Joost G J Hoenderop, René J M Bindels

Role of the alternative splice variant of NCC in blood pressure control

NCC 可变剪接体在血压控制中的作用

Wardak, Hila; Tutakhel, Omar A Z; Van Der Wijst, Jenny

NaCl cotransporter abundance in urinary vesicles is increased by calcineurin inhibitors and predicts thiazide sensitivity

钙调神经磷酸酶抑制剂可增加尿囊中的氯化钠同向转运蛋白丰度,并可预测噻嗪类药物的敏感性

Omar A Z Tutakhel, Arthur D Moes, Marco A Valdez-Flores, Marleen L A Kortenoeven, Mathijs V D Vrie, Sabina Jeleń, Robert A Fenton, Robert Zietse, Joost G J Hoenderop, Ewout J Hoorn, Luuk Hilbrands, René J M Bindels