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

Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D-Related Disorder

不容错过:VPS13D相关疾病的内含子变异、治疗和表型谱综述

Martje G Pauly ,Norbert Brüggemann ,Stephanie Efthymiou ,Anne Grözinger ,Sokhna Haissatou Diaw ,Viorica Chelban ,Valentina Turchetti ,Barbara Vona ,Vera Tadic ,Henry Houlden ,Alexander Münchau ,Katja Lohmann

EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia

EIF2AK2 错义变异与早发性全身性肌张力障碍相关

Demy J S Kuipers, Wim Mandemakers, Chin-Song Lu, Simone Olgiati, Guido J Breedveld, Christina Fevga, Vera Tadic, Miryam Carecchio, Bradley Osterman, Lena Sagi-Dain, Yah-Huei Wu-Chou, Chiung C Chen, Hsiu-Chen Chang, Shey-Lin Wu, Tu-Hsueh Yeh, Yi-Hsin Weng, Antonio E Elia, Celeste Panteghini, Nicolas