Tay Sachs Disease - Genetic Mutations

Relevant Publications

Tandem mass spectrometric enzyme assay for simultaneous detection of Tay-Sachs and Sandhoff diseases in dried blood spots for newborn screening.

Issue Release: 2024

Infantile Monosialoganglioside2 (GM2) Gangliosidosis With Concurrent Bronchopneumonia: An Extraordinary Case of Tay-Sachs Disease.

Issue Release: 2024

Cinnamic acid, a natural plant compound, exhibits neuroprotection in a mouse model of Sandhoff disease via PPARα.

Issue Release: 2024

Increasing β-hexosaminidase A activity using genetically modified mesenchymal stem cells.

Issue Release: 2024

Clinical outcome assessments of disease burden and progression in late-onset GM2 gangliosidoses.

Issue Release: 2024

Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disorders.

Issue Release: 2024

Eukaryotic release factor 1 from Euplotes promotes frameshifting at premature stop codons in human cells.

Issue Release: 2024

Lithium treatment rescues dysfunctional autophagy in the cell models of Tay-Sachs disease.

Issue Release: 2024

Treating late-onset Tay Sachs disease: Brain delivery with a dual trojan horse protein.

Issue Release: 2024

Correction: Raha et al. Lipid-Lowering Drug Gemfibrozil Protects Mice from Tay-Sachs Disease via Peroxisome Proliferator-Activated Receptor α. 2023, , 2791.

Issue Release: 2024

Burden of rare genetic disorders in India: twenty-two years\' experience of a tertiary centre.

Issue Release: 2024

Immune responses to central nervous system directed adeno-associated virus gene therapy: Does direct CNS delivery make a difference?

Issue Release: 2024

Clinical, Imaging, Genetic, and Disease Course Characteristics in Patients With GM2 Gangliosidosis.

Issue Release: 2023

A pentasaccharide for monitoring pharmacodynamic response to gene therapy in GM1 gangliosidosis.

Issue Release: 2023

Late-onset Tay-Sachs disease presenting with a neuromuscular phenotype-a case series.

Issue Release: 2023

Efficacy of Adeno-Associated Virus Serotype 9-Mediated Gene Therapy for AB-Variant GM2 Gangliosidosis.

Issue Release: 2023

Late-Onset Tay-Sachs Disease - expanding the clinical phenotype.

Issue Release: 2023

Optical Coherence Tomography Findings in Cherry-Red Spot: Implications for Understanding Pathophysiology and Visual Prognosis.

Issue Release: 2023

Letter response: Intra-familial phenotype variability in Late-Onset Tay-Sachs disease.

Issue Release: 2023

Gene expression changes in Tay-Sachs disease begin early in fetal brain development.

Issue Release: 2023

How Are Mutagens Detected?

How Do Errors Occur During Meiosis?

How Are Nucleotide Mutations Detected?

How do ZFNs function?

How Do Microarrays Work?

What Are the Different Types of Mutations?

What are the Ethical Considerations Surrounding Induced Mutations?

What are Acridine Dyes?

What are Microarrays?

How Do Genetic Mutations Cause Cystic Fibrosis?

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