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

UHPLC-MS/MS-Based Identity Confirmation of Amino Acids Involved in Response to and Side Effects from Antiseizure Medications

基于 UHPLC-MS/MS 的抗癫痫药物反应和副作用相关氨基酸身份确认

Mo Awchi, Pablo Sinues, Alexandre N Datta, Diego García-Gómez, Kapil Dev Singh

Personalised therapeutic management of epileptic patients guided by pathway-driven breath metabolomics

以通路驱动呼吸代谢组学为指导的癫痫患者个性化治疗管理

Kapil Dev Singh, Martin Osswald, Victoria C Ziesenitz, Mo Awchi, Jakob Usemann, Lukas L Imbach, Malcolm Kohler, Diego García-Gómez, Johannes van den Anker, Urs Frey, Alexandre N Datta #, Pablo Sinues #

De novo GABRG2 mutations associated with epileptic encephalopathies

与癫痫性脑病相关的 GABRG2 新发突变

Dingding Shen, Ciria C Hernandez, Wangzhen Shen, Ningning Hu, Annapurna Poduri, Beth Shiedley, Alex Rotenberg, Alexandre N Datta, Steffen Leiz, Steffi Patzer, Rainer Boor, Kerri Ramsey, Ethan Goldberg, Ingo Helbig, Xilma R Ortiz-Gonzalez, Johannes R Lemke, Eric D Marsh, Robert L Macdonald

MTO1 mediates tissue specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary intervention

MTO1 通过 tRNA 修饰和翻译优化介导 OXPHOS 缺陷的组织特异性,而饮食干预可以绕过这一缺陷

Christin Tischner, Annette Hofer, Veronika Wulff, Joanna Stepek, Iulia Dumitru, Lore Becker, Tobias Haack, Laura Kremer, Alexandre N Datta, Wolfgang Sperl, Thomas Floss, Wolfgang Wurst, Zofia Chrzanowska-Lightowlers, Martin Hrabe De Angelis, Thomas Klopstock, Holger Prokisch, Tina Wenz