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American Journal of Human Genetics|May 6, 2004
Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10Tohru Matsuura, Ping Fang, Xi Lin, et al.Human Molecular Genetics|September 23, 2020
Altered Capicua expression drives regional Purkinje neuron vulnerability through ion channel gene dysregulation in spinocerebellar ataxia type 1Ravi Chopra, David D Bushart, John P Cooper, et al.Neurology|June 17, 2021
Pathogenic Effect of TP73 Gene Variants in People With Amyotrophic Lateral SclerosisKristi L Russell, Jonathan M Downie, Summer B Gibson, et al.Nature|April 14, 2017
Therapeutic reduction of ataxin-2 extends lifespan and reduces pathology in TDP-43 miceLindsay A Becker, Brenda Huang, Gregor Bieri, et al.Cerebellum (London, England)|October 10, 2025
Cognitive Deficits in Spinocerebellar Ataxia Type 2: A Comparative Analysis of Pre-ataxic and Ataxic StagesRenata Barreto Tenorio, Andressa Aline Vieira, Walter Oleschko Arruda, et al.Movement Disorders : Official Journal of the Movement Disorder Society|August 14, 2021
RNA Toxicity and Perturbation of rRNA Processing in Spinocerebellar Ataxia Type 2Pan P Li, Roumita Moulick, Hongxuan Feng, et al.Human Molecular Genetics|September 25, 2012
A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insultKatherine E Hekman, Guo-Yun Yu, Christopher D Brown, et al.Biorxiv : the Preprint Server for Biology|May 22, 2023
Purkinje-Enriched snRNA-seq in SCA7 Cerebellum Reveals Zebrin Identity Loss as a Central Feature of Polyglutamine AtaxiasLuke C Bartelt, Pawel M Switonski, Grażyna Adamek, et al.The Journal of Biological Chemistry|July 5, 2022
A quantitative high-throughput screen identifies compounds that lower expression of the SCA2-and ALS-associated gene ATXN2Daniel R Scoles, Mandi Gandelman, Sharan Paul, et al.Neurobiology of Disease|August 26, 2014
KCNC3(R420H), a K(+) channel mutation causative in spinocerebellar ataxia 13 displays aberrant intracellular traffickingCarolina Gallego-Iradi, Justin S Bickford, Swati Khare, et al.Pageof 15