• A Coupled Statistical and Deterministic Model for Forecasting Climate-Driven Dengue Incidence in Selangor, Malaysia
• A pentasaccharide for monitoring pharmacodynamic response to gene therapy in GM1 gangliosidosis
• Autophagic flux is impaired in the brain tissue of Tay-Sachs disease mouse model
• Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum
• Biochemical Correction of GM2 Ganglioside Accumulation in AB-Variant GM2 Gangliosidosis
• Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre
• Cinnamic acid, a natural plant compound, exhibits neuroprotection in a mouse model of Sandhoff disease via PPARalpha
• Clinical and imaging predictors of late-onset GM2 gangliosidosis: A scoping review
• Clinical outcome assessments of disease burden and progression in late-onset GM2 gangliosidoses
• Clinical, Imaging, Genetic, and Disease Course Characteristics in Patients With GM2 Gangliosidosis
• Clinical, Imaging, Genetic, and Disease Course Characteristics in Patients With GM2 Gangliosidosis: Beyond Age of Onset
• Co-occurrence of central tegmental tract hyperintensity and Tay-Sachs disease: A case report
• CRISPR-Based Gene Editing Techniques in Pediatric Neurological Disorders
• Efficacy and safety of miglustat in the treatment of GM2 gangliosidosis: A systematic review
• Efficacy of Adeno-Associated Virus Serotype 9-Mediated Gene Therapy for AB-Variant GM2 Gangliosidosis
• Eukaryotic release factor 1 from Euplotes promotes frameshifting at premature stop codons in human cells
• From amaurotic idiocy to biochemically defined lipid storage diseases: the first identification of GM1-Gangliosidosis
• Gene expression changes in Tay-Sachs disease begin early in fetal brain development
• Gene Therapy of Sphingolipid Metabolic Disorders
• Genesis of a Fact: Tay-Sachs Disease as a "Simple Recessive"
• Increasing β-hexosaminidase A activity using genetically modified mesenchymal stem cells
• Infantile Monosialoganglioside2 (GM2) Gangliosidosis With Concurrent Bronchopneumonia: An Extraordinary Case of Tay-Sachs Disease
• Intrathecal delivery of a bicistronic AAV9 vector expressing beta-hexosaminidase A corrects Sandhoff disease in a murine model: A dosage study
• Intrathecal delivery of a bicistronic AAV9 vector expressing β-hexosaminidase A corrects Sandhoff disease in a murine model: A dosage study
• Late-Onset Tay-Sachs Disease - expanding the clinical phenotype
• Late-onset Tay-Sachs disease presenting with a neuromuscular phenotype-a case series
• Letter response: Intra-familial phenotype variability in Late-Onset Tay-Sachs disease
• Life-Limiting Peripheral Organ Dysfunction in Feline Sandhoff Disease Emerges after Effective CNS Gene Therapy
• Lipid-Lowering Drug Gemfibrozil Protects Mice from Tay-Sachs Disease via Peroxisome Proliferator-Activated Receptor alpha
• Lipid-Lowering Drug Gemfibrozil Protects Mice from Tay-Sachs Disease via Peroxisome Proliferator-Activated Receptor α
• Lipids as Emerging Biomarkers in Neurodegenerative Diseases
• Lithium treatment rescues dysfunctional autophagy in the cell models of Tay-Sachs disease
• Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach
• Nursing Care Plan for Patients with Tay-Sachs-A Rare Paediatric Disease
• Optical Coherence Tomography Findings in Cherry-Red Spot: Implications for Understanding Pathophysiology and Visual Prognosis
• Plasma G_M2 ganglioside potential biomarker for diagnosis, prognosis and disease monitoring of GM2-Gangliosidosis
• Quantification of N-acetyl-l-aspartate in dried blood spots: A simple and fast LC-MS/MS neonatal screening method for the diagnosis of Canavan disease
• Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late-onset Tay-Sachs disease
• Real-time ultrasound-guided segmental bronchoscopic insufflation in a Tay-Sachs patient with atelectasis
• Tandem mass spectrometric enzyme assay for simultaneous detection of Tay-Sachs and Sandhoff diseases in dried blood spots for newborn screening
• The diagnostic journey for patients with late-onset GM2 Gangliosidoses
• Ursodeoxycholic Acid Binds PERK and Ameliorates Neurite Atrophy in a Cellular Model of GM2 Gangliosidosis