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Cell Death & Disease|October 7, 2022
The ataxia-linked E1081Q mutation affects the sub-plasma membrane Ca<sup>2+</sup>-microdomains by tuning PMCA3 activityFrancesca Vallese, Lorenzo Maso, Flavia Giamogante, et al.Cell Reports. Medicine|February 25, 2024
SEPN1-related myopathy depends on the oxidoreductase ERO1A and is druggable with the chemical chaperone TUDCASerena Germani, Andrew Tri Van Ho, Alessandro Cherubini, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 7, 2023
ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizuresElena Poggio, Lucia Barazzuol, Andrea Salmaso, et al.Pageof 2