1. 刘如谦 美国 Harvard University 2020美国医学院院士;2021美国科学院院士 Base editing rescue of spinal muscular atrophy in cells and in mice
2. 张学 中国 哈尔滨医科大学 中国工程院院士 Case Report: Two Novel Frameshift Mutations in SLC20A2 and One Novel Splice Donor Mutation in PDGFB ..
3. 张学 中国 哈尔滨医科大学 中国工程院院士 Slc20a2-Deficient Mice Exhibit Multisystem Abnormalities and Impaired Spatial Learning Memory and Se..
4. Marco Colonna 美国 Washington University in St. Louis 2019美国科学院院士 Microglia control small vessel calcification via TREM2
5. Jahn, Reinhard 德国 Max Planck Institute for Biophysical Chemistry 2015美国科学院院士 Vesicular Glutamate Transporters (SLCA17 A6, 7, 8) Control Synaptic Phosphate Levels
6. 付小兵 中国 解放军总医院 中国工程院院士;2021美国工程院院士 Efficient and rapid conversion of human astrocytes and ALS mouse model spinal cord astrocytes into m..
7. 周宏灏 中国 中南大学 中国工程院院士 A splice site mutation causing exon 6 skipping in SLC20A2 gene in a primary familial brain calcifica..
8. 周宏灏 中国 中南大学 中国工程院院士 Clinical Features of Primary Familial Brain Calcification in 17 Families
9. 付小兵 中国 解放军总医院 中国工程院院士;2021美国工程院院士 Chemical conversion of human and mouse fibroblasts into motor neurons
10. Geschwind, Daniel H. 美国 David Geffen School of Medicine at UCLA 2011美国医学院院士 Primary brain calcification: an international study reporting novel variants and associated phenotyp..
11. Gael,Nicolas 法国 Normandie University Upstream open reading frame-introducing variants in patients with primary familial brain calcificati..
12. Shengdar Q,Tsai 美国 St. Jude Children's Research Hospital Optimization of base editors for the functional correction of SMN2 as a treatment for spinal ..
13. Rashmi,Kothary 加拿大 University of Ottawa Optimization of base editors for the functional correction of SMN2 as a treatment for spinal ..
14. Benjamin P,Kleinstiver 美国 Harvard University Optimization of base editors for the functional correction of SMN2 as a treatment for spinal ..
15. de Jong, Pim A. 荷兰 Utrecht University The Association between Intracranial Calcifications and Symptoms in Patients with Primary Familial B..
16. Gael,Nicolas 法国 Normandie University One Train May Hide Another: Two Cases of Co-Occurring Primary Familial Brain Calcification and Alzhe..
17. Robert E,MacLaren 英国 University of Oxford A hypomorphic variant of choroideremia is associated with a novel intronic mutation that leads to ex..
18. de Jong, Pim A. 荷兰 Utrecht University Inorganic phosphate exporter heterozygosity in mice leads to brain vascular calcification, microangi..
19. Melanie,Greter 瑞士 University of Zurich Inorganic phosphate exporter heterozygosity in mice leads to brain vascular calcification, microangi..
20. 张卫东 中国 上海中医药大学 Dracorhodin targeting CMPK2 attenuates inflammation: A novel approach to sepsis therapy