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

Loss-of-Function Variants in DRD1 in Infantile Parkinsonism-Dystonia

婴儿帕金森病-肌张力障碍中的 DRD1 功能丧失变异

Kimberley M Reid, Dora Steel, Sanjana Nair, Sanjay Bhate, Lorenzo Biassoni, Sniya Sudhakar, Michelle Heys, Elizabeth Burke, Erik-Jan Kamsteeg, Genomics England Research Consortium, Biju Hameed, Michael Zech, Niccolo E Mencacci, Katy Barwick, Maya Topf, Manju A Kurian

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

组蛋白甲基转移酶基因 KMT2B 突变导致复杂的早发性肌张力障碍

Esther Meyer, Keren J Carss, Julia Rankin, John M E Nichols, Detelina Grozeva, Agnel P Joseph, Niccolo E Mencacci, Apostolos Papandreou, Joanne Ng, Serena Barral, Adeline Ngoh, Hilla Ben-Pazi, Michel A Willemsen, David Arkadir, Angela Barnicoat, Hagai Bergman, Sanjay Bhate, Amber Boys, Niklas Darin,