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Frontiers in Genetics|May 19, 2025
Validation of a comprehensive long-read sequencing platform for broad clinical genetic diagnosisSiddhartha Sen, Hillary P Handler, Alec Victorsen, et al.Neuron|December 28, 2022
Decreasing mutant ATXN1 nuclear localization improves a spectrum of SCA1-like phenotypes and brain region transcriptomic profilesHillary P Handler, Lisa Duvick, Jason S Mitchell, et al.Neuron|December 28, 2022
Disruption of the ATXN1-CIC complex reveals the role of additional nuclear ATXN1 interactors in spinocerebellar ataxia type 1Stephanie L Coffin, Mark A Durham, Larissa Nitschke, et al.JCI Insight|November 3, 2018
Antisense oligonucleotide-mediated ataxin-1 reduction prolongs survival in SCA1 mice and reveals disease-associated transcriptome profilesJillian Friedrich, Holly B Kordasiewicz, Brennon O'Callaghan, et al.Biorxiv : the Preprint Server for Biology|February 17, 2023
Delineating regional vulnerability in the neurodegenerative disease SCA1 using a conditional mutant ATXN1 mouseLisa Duvick, W Michael Southern, Kellie Benzow, et al.JCI Insight|March 21, 2024
Mapping SCA1 regional vulnerabilities reveals neural and skeletal muscle contributions to diseaseLisa Duvick, W Michael Southern, Kellie A Benzow, et al.Pageof 10