1. Adrian R. Krainer 美国 Cold Spring Harbor Laboratory 2019美国医学院院士;2020美国科学院院士;2021沃尔夫医学奖 Disruption of splicing-regulatory elements using CRISPR/Cas9 to rescue spinal muscular atrophy in hu..
2. Mustafa,Sahin 美国 Harvard University 2023美国医学院院士 Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST
3. Craig,Blackstone 美国 National Institute of Neurological Disorders and Stroke 2022美国医学院院士 Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST
4. 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 ..
5. 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..
6. Marco Colonna 美国 Washington University in St. Louis 2019美国科学院院士 Microglia control small vessel calcification via TREM2
7. 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
8. Lupski, James R. 美国 Baylor College of Medicine 2002美国医学院院士 Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait ..
9. 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..
10. 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
11. 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..
12. Gael,Nicolas 法国 Normandie University Upstream open reading frame-introducing variants in patients with primary familial brain calcificati..
13. de Jong, Pim A. 荷兰 Utrecht University The Association between Intracranial Calcifications and Symptoms in Patients with Primary Familial B..
14. Gael,Nicolas 法国 Normandie University One Train May Hide Another: Two Cases of Co-Occurring Primary Familial Brain Calcification and Alzhe..
15. de Jong, Pim A. 荷兰 Utrecht University Inorganic phosphate exporter heterozygosity in mice leads to brain vascular calcification, microangi..
16. Melanie,Greter 瑞士 University of Zurich Inorganic phosphate exporter heterozygosity in mice leads to brain vascular calcification, microangi..
17. 张卫东 中国 上海中医药大学 Dracorhodin targeting CMPK2 attenuates inflammation: A novel approach to sepsis therapy
18. Enoch Y,Park 日本 Shizuoka University Structure-function analysis of bacterial GH31 a-galactosidases specific for a-(1?4)-galactobiose
19. Shoji,Tsuji 日本 University of Tokyo A Japanese family with idiopathic basal ganglia calcification carrying a novel XPR1 variant
20. Tatsushi,Toda 日本 University of Tokyo A Japanese family with idiopathic basal ganglia calcification carrying a novel XPR1 variant