Last Updated: 09/26/2026
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Found 129 publications
Diagnostic and therapeutic applications of the glycan biomarker H3N2b in GM1 Gangliosidosis.
Journal: Molecular genetics and metabolism
Published: March 25, 2026
AAV9 Gene Therapy in Type II GM1 Gangliosidosis - A Phase 1-2 Trial.
Journal: The New England journal of medicine
Published: February 10, 2026
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN-Digenic Myopathy.
Journal: Annals of clinical and translational neurology
Published: February 04, 2026
Similarities and differences in the late-onset GM2 gangliosidoses: Tay-Sachs and Sandhoff diseases.
Journal: Journal of neurology
Published: January 07, 2026
Generation and characterization of induced pluripotent stem cell (iPSC) lines from patients affected with Tay-Sachs and Sandhoff disease.
Journal: Stem cell research
Published: November 19, 2025
Selective muscle involvement quantification in late-onset Tay Sachs and Sandhoff disease using neuromuscular ultrasound imaging.
Journal: Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
Published: September 30, 2025
De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity.
Journal: Nature communications
Published: September 23, 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
Diffusion tensor imaging in Chediak Higashi Disease.
Journal: medRxiv : the preprint server for health sciences
Published: September 19, 2025
BK channel activity in skin fibroblasts from patients with neurological disorder.
Journal: Channels (Austin, Tex.)
Published: August 11, 2025
AAV9 Gene Therapy in GM1 Gangliosidosis Type II: A Phase 1/2 Trial.
Journal: medRxiv : the preprint server for health sciences
Published: August 06, 2025
Domain specific phenotypic expansion associated with variants in MACF1.
Journal: medRxiv : the preprint server for health sciences
Published: July 16, 2025
Last Updated: 09/26/2026