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Last Updated: 10/31/2025
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Found 2186 publications
Decoding the Hex-GM2-MGL2 axis in microglia-neuron crosstalk.
Journal: Trends in pharmacological sciences
Published: October 07, 2025
Five-year analysis of efficacy and safety of a bidirectional AAV gene therapy in Tay-Sachs sheep.
Journal: The Journal of clinical investigation
Published: September 30, 2025
Similarities and Differences in the Late-Onset GM2 Gangliosidoses: Tay-Sachs and Sandhoff Diseases.
Journal: medRxiv : the preprint server for health sciences
Published: September 19, 2025
Uncovering Dual Molecular Diagnoses in Families with Complex Phenotypes through Structural and Clinical Study of Novel COL4A6 Variants.
Journal: QJM : monthly journal of the Association of Physicians
Published: July 15, 2025
CNS-targeted base editing of the major late-onset Tay-Sachs mutation alleviates disease in mice.
Journal: The Journal of clinical investigation
Published: June 17, 2025
Generation of three human induced pluripotent stem cell (hiPSC) lines from patients with Late-Onset Tay-Sachs disease (HEXA-related adult-onset GM2-gangliosidosis).
Journal: Stem cell research
Published: June 12, 2025
A Comprehensive microRNA-seq Transcriptomic Analysis of Tay-Sachs Disease Mice Revealed Distinct miRNA Profiles in Neuroglial Cells.
Journal: Journal of molecular neuroscience : MN
Published: June 04, 2025
Myotonic Discharges in Infantile Sandhoff Disease.
Journal: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
Published: May 21, 2025
Deep Learning Cerebellar Magnetic Resonance Imaging Segmentation in Late-Onset GM2 Gangliosidosis: Implications for Phenotype.
Journal: medRxiv : the preprint server for health sciences
Published: April 29, 2025
Last Updated: 10/31/2025