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Proceedings of the National Academy of Sciences of the United States of America|March 30, 2019
A U2-snRNP-independent role of SF3b in promoting mRNA exportKe Wang, Changping Yin, Xian Du, et al.
Nature Neuroscience|November 29, 2011
Rett syndrome mutation MeCP2 T158A disrupts DNA binding, protein stability and ERP responsesDarren Goffin, Megan Allen, Le Zhang, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 18, 2023
Causal ALS genes impact the MHC class II antigen presentation pathwayBinkai Chi, Muhammet M Öztürk, Christina L Paraggio, et al.
Plos One|December 17, 2025
SF3B1K700E mutation in human embryonic stem cells causes aberrant expression of immune-related genesMahtab Dastpak, Claudia A Mimoso, Moein Farshchian, et al.
The Journal of Biological Chemistry|May 31, 2025
Map of the neuronal O-glycoproteome reveals driver functions in the regulated secretory pathwayThomas D Madsen, Asli B Topaktas, Leo A Dworkin, et al.
Biorxiv : the Preprint Server for Biology|June 12, 2025
Novel mouse model reveals neurodevelopmental origin of PMM2-CDG brain pathologyAndrew C Edmondson, Rohit Budhraja, Zijie Xia, et al.
Cell Reports|October 2, 2012
FUS-SMN protein interactions link the motor neuron diseases ALS and SMATomohiro Yamazaki, Shi Chen, Yong Yu, et al.
Nature Neuroscience|May 28, 2013
Exome sequencing to identify de novo mutations in sporadic ALS triosAlessandra Chesi, Brett T Staahl, Ana Jovičić, et al.
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