Human Neuraminidase 3 reduces the severity of Tay-Sachs disease symptoms in a mouse model.

B4Galnt1 Deficiency Reverses Severe Neurological Symptoms in a Mouse Model of Tay-Sachs Disease.

Generation and characterization of induced pluripotent stem cell (iPSC) lines from patients affected with Tay-Sachs and Sandhoff disease.

Long-term follow-up of a Tay-Sachs disease patient with cherry-red spot.

Intrathecal delivery of AAVrh10-mHexa combined with anti-inflammatory treatment reduces neuropathological markers and extends the lifespan of mice with early-onset Tay-Sachs disease.

Pyrimethamine-based targeting of HEXA gene mutations in Tay-Sachs disease: a computational analysis.

Symptomatic Benefit of Acetyl-DL-Leucine for Cerebellar Ataxia in Juvenile Tay-Sachs Disease: A Pediatric Case and Literature Review.

Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine.

Mass spectrometric profiling reveals alterations in N-Glycans and O-Glycans in Tay-Sachs disease under Autophagy-Induced conditions.

3D bioprinted neural scaffolds: a transformative avenue for GM2 gangliosidosis therapy.

Burden of caregiving of individuals with GM1 and GM2 gangliosidoses in the United States: a qualitative study.

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

GM2 Gangliosidosis AB Variant: A Hidden Truth.

Venglustat in GM2 gangliosidoses and related disorders: Results of the AMETHIST randomized controlled and basket trials.

Uncovering Dual Molecular Diagnoses in Families with Complex Phenotypes through Structural and Clinical Study of Novel COL4A6 Variants.

Five-year analysis of efficacy and safety of a bidirectional AAV gene therapy in Tay-Sachs sheep.

Activation of ABCC1 transporter ameliorates synaptic dysregulation in Tay-Sachs disease neuron.

Characterization of Human Recombinant β1,4-GalNAc-Transferase B4GALNT1 and Inhibition by Selected Compounds.

Generation of mice with combined Hexa Gly269Ser KI or KO and Neu3 KO alleles to create new models of GM2 gangliosidoses.

Tay-Sachs disease in a child of indigenous Guatemalan-Mayan origin with macular brown spots and perifoveal whitening.

Reproductive carrier screening for genetic disorders: position statement of the Canadian College of Medical Geneticists.

Generation of three human induced pluripotent stem cell (hiPSC) lines from patients with Late-Onset Tay-Sachs disease (HEXA-related adult-onset GM2-gangliosidosis).

Dual-vector rAAVrh8 gene therapy for GM2 gangliosidosis: a phase 1/2 trial.

A Comprehensive microRNA-seq Transcriptomic Analysis of Tay-Sachs Disease Mice Revealed Distinct miRNA Profiles in Neuroglial Cells.

Advances in Diagnosis, Pathological Mechanisms, Clinical Impact, and Future Therapeutic Perspectives in Tay-Sachs Disease.

Through a Glass Darkly: Perceptions of Ethnoracial Identity in Artificial Intelligence Generated Medical Vignettes and Images.

Secondary accumulation of lyso-platelet activating factors in lysosomal storage diseases.

CNS-targeted base editing of the major late-onset Tay-Sachs mutation alleviates disease in mice.

Evaluation of the PP6D5 Polymer as a Novel Non-Viral Vector in the Development of a CRISPR/nCas9-Based Gene Therapy for Tay-Sachs Disease.

Yeast-Produced Human Recombinant Lysosomal β-Hexosaminidase Efficiently Rescues GM2 Ganglioside Accumulation in Tay-Sachs Disease.

GM2 activator deficiency: An ultra-rare disorder with a new case and review of 22 published cases.

Cherry-red Spot in Tay-Sachs Disease.

Late-onset GM2 gangliosidosis: magnetic resonance imaging, diffusion tensor imaging, and correlational fiber tractography differentiate Tay-Sachs and Sandhoff diseases.

Sphingolipidoses: expanding the spectrum of α-synucleinopathies.

Differential gene expression patterns in Niemann-Pick Type C and Tay-Sachs diseases: Implications for neurodegenerative mechanisms.

Imbalance in redox homeostasis is associated with neurodegeneration in the murine model of Tay-Sachs disease.

Combined treatment of Ketogenic diet and propagermanium reduces neuroinflammation in Tay-Sachs disease mouse model.

Brainstem Substructure Atrophy in Late-Onset GM2-Gangliosidosis Imaging Using Automated Segmentation.

Lipid Biochemistry and its Role in Human Diseases.

Diagnosing Late-Onset Tay-Sachs Through Next Generation Sequencing and Functional Enzyme Testing: From Genes to Enzymes.

Tay-Sachs and Sandhoff Diseases: Diffusion tensor imaging and correlational fiber tractography findings differentiate late-onset GM2 Gangliosidosis.

Precise template-free correction restores gene function in Tay-Sachs disease while reframing is ineffective.

Intracerebroventricular administration of a modified hexosaminidase ameliorates late-stage neurodegeneration in a GM2 mouse model.

Clinical and biochemical abnormalities in a feline model of GM2 activator deficiency.

Simultaneous surgery for gastrostomy and laryngotracheal separation in a patient with Tay‒Sachs disease.

Beyond the traditional distinctions of genome editing: evaluating a vulnerability framework.

Abnormally accumulated GM2 ganglioside contributes to skeletal deformity in Tay-Sachs mice.

Eye is a window to systemic pathology: cherry-red spot to diagnose Tay-Sachs disease.

Novel HexA splice site mutations in a patient with late atypical onset Tay-Sachs disease: importance of combined NGS and biochemical analysis.

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

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

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

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

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

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

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

Real-time ultrasound-guided segmental bronchoscopic insufflation in a Tay-Sachs patient with atelectasis.

CRISPR-Based Gene Editing Techniques in Pediatric Neurological Disorders.

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

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

Intrathecal delivery of a bicistronic AAV9 vector expressing β-hexosaminidase A corrects Sandhoff disease in a murine model: A dosage study.

Lipids as Emerging Biomarkers in Neurodegenerative Diseases.

Lipid-Lowering Drug Gemfibrozil Protects Mice from Tay-Sachs Disease via Peroxisome Proliferator-Activated Receptor α.

Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late-onset Tay-Sachs disease.

The diagnostic journey for patients with late-onset GM2 Gangliosidoses.

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

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

Nursing Care Plan for Patients with Tay-Sachs-A Rare Paediatric Disease.

From amaurotic idiocy to biochemically defined lipid storage diseases: the first identification of GM1-Gangliosidosis.

Genesis of a Fact: Tay-Sachs Disease as a "Simple Recessive".

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

Efficacy and safety of miglustat in the treatment of GM2 gangliosidosis: A systematic review.

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.

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

Co-occurrence of central tegmental tract hyperintensity and Tay-Sachs disease: A case report.

Gene Therapy of Sphingolipid Metabolic Disorders.

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

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

Plasma GM2 ganglioside potential biomarker for diagnosis, prognosis and disease monitoring of GM2-Gangliosidosis.

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

Diagnostic Tips from a Video Series and Literature Review of Patients with Late-Onset Tay-Sachs Disease.

Nutrition Assessment and Management of Late-Onset Tay-Sachs Disease: A Clinical Case Report.

Quantitative longitudinal natural history of 8 gangliosidoses-conceptual framework and baseline data of the German 8-in-1 disease registry. A cross-sectional analysis.

CRISPR/nCas9-Based Genome Editing on GM2 Gangliosidoses Fibroblasts via Non-Viral Vectors.

Current Understanding on the Genetic Basis of Key Metabolic Disorders: A Review.

Analysis of Brain Lipids in the Early-Onset Tay-Sachs Disease Mouse Model With the Combined Deficiency of β-Hexosaminidase A and Neuraminidase 3.

Juvenile Tay Sachs Disease Due to Compound Heterozygous Mutation in Hex-A Gene, with Early Sign of Bilateral Tremors.

Therapeutic Strategies For Tay-Sachs Disease.

[Progressive psychomotor regression for 2.5 years in a boy aged 5 years].

Neurodegeneration with Progressive Dystonia: Juvenile-Onset Tay-Sachs Disease.

sp2-Iminosugars targeting human lysosomal β-hexosaminidase as pharmacological chaperone candidates for late-onset Tay-Sachs disease.

Therapeutic advantages of combined gene/cell therapy strategies in a murine model of GM2 gangliosidosis.

Towards gene therapy for Tay-Sachs disease.

Lysosomal gene Hexb displays haploinsufficiency in a knock-in mouse model of Alzheimer's disease.

A solid start for gene therapy in Tay-Sachs disease.

AAV gene therapy for Tay-Sachs disease.

Rare coexistence of Tay-Sachs disease, coarctation of the aorta and grade V vesicoureteral reflux.

L-Arginine Ameliorates Defective Autophagy in GM2 Gangliosidoses by mTOR Modulation.

Pontocerebellar atrophy is the hallmark neuroradiological finding in late-onset Tay-Sachs disease.

Serum Cytokine Profile, Beta-Hexosaminidase A Enzymatic Activity and GM2 Ganglioside Levels in the Plasma of a Tay-Sachs Disease Patient after Cord Blood Cell Transplantation and Curcumin Administration: A Case Report.

Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease.

Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients.

Three Adult-Onset Autosomal Recessive Ataxias: What Adult Neurologists Need to Know.

White Matter Pathology as a Barrier to Gangliosidosis Gene Therapy.

Natural history of Tay-Sachs disease in sheep.

The GM2 gangliosidoses: Unlocking the mysteries of pathogenesis and treatment.

Microglia-Specific Expression of HEXA and HEXB Leads to Poor Prognosis in Glioblastoma Patients.

In-silico screening and microsecond molecular dynamics simulations to identify single point mutations that destabilize β-hexosaminidase A causing Tay-Sachs disease.

Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG).

Serial changes of T1-, T2-weighted MR imaging and MR spectroscopy in Tay-Sachs disease with late onset spasms.

Efficient and precise generation of Tay-Sachs disease model in rabbit by prime editing system.

Magnetic resonance imaging and spectroscopy in late-onset GM2-gangliosidosis.

Investigating Immune Responses to the scAAV9-HEXM Gene Therapy Treatment in Tay-Sachs Disease and Sandhoff Disease Mouse Models.

Telemedicine and GM-2 gangliosidosis (Tay-Sachs) disease - A new savior on the horizon during COVID-19 pandemic.

A pathogenic HEXA missense variant in wild boars with Tay-Sachs disease.

Functionality of a bicistronic construction containing HEXA and HEXB genes encoding β-hexosaminidase A for cell-mediated therapy of GM2 gangliosidoses.

Therapeutic Uses of Bacterial Subunit Toxins.

Use of amplicon-based sequencing for testing fetal identity and monogenic traits with Single Circulating Trophoblast (SCT) as one form of cell-based NIPT.

Dysfunctional mode switching between fixation and saccades: collaborative insights into two unusual clinical disorders.

[Rehabilitation in Tay-Sachs disease: A case report].

Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and Morocco.

Two patients from Turkey with a novel variant in the GM2A gene and review of the literature.

Novel HEXA variants in Korean children with Tay-Sachs disease with regression of neurodevelopment from infancy.

Sequence analysis of the Hex A gene in Jacob sheep from Bulgaria.

Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants.

A case of infantile Tay-Sachs disease with late onset spasms.

A master protocol to investigate a novel therapy acetyl-L-leucine for three ultra-rare neurodegenerative diseases: Niemann-Pick type C, the GM2 gangliosidoses, and ataxia telangiectasia.

Late-Onset Tay-Sachs Disease in an Irish Family.

[Macular cherry red spot: A case of Tay-Sachs disease].

Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients.

Natural history study of glycan accumulation in large animal models of GM2 gangliosidoses.

The juvenile gangliosidoses: A timeline of clinical change.

Neonatal and carrier screening for rare diseases: how innovation challenges screening criteria worldwide.

Clinical and Laboratory Profile of Gangliosidosis from Southern Part of India.

Lysosomal Diseases and Neuropsychiatry: Opportunities to Rebalance the Mind.

Whole exome sequencing reveals a homozygous nonsense mutation in HEXA gene leading to Tay-Sachs disease in Saudi Family.

Metabolism of Glycosphingolipids and Their Role in the Pathophysiology of Lysosomal Storage Disorders.

GM2 ganglioside accumulation causes neuroinflammation and behavioral alterations in a mouse model of early onset Tay-Sachs disease.

GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies.

A feasibility study of mHealth and wearable technology in late onset GM2 gangliosidosis (Tay-Sachs and Sandhoff Disease).

Pronounced Therapeutic Benefit of a Single Bidirectional AAV Vector Administered Systemically in Sandhoff Mice.

In silico analysis of the effects of disease-associated mutations of β-hexosaminidase A in Tay-Sachs disease.

Development of Specific Fluorogenic Substrates for Human β-N-Acetyl-D-hexosaminidase A for Cell-Based Assays.

Volume and Infusion Rate Dynamics of Intraparenchymal Central Nervous System Infusion in a Large Animal Model.

Improvement of motor and behavioral activity in Sandhoff mice transplanted with human CD34+ cells transduced with a HexA/HexB expressing lentiviral vector.

Animal Model Contributions to Congenital Metabolic Disease.

The incidence and carrier frequency of Tay-Sachs disease in the French-Canadian population of Quebec based on retrospective data from 24 years, 1992-2015.

Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases.

Natural History of Adult Patients with GM2 Gangliosidosis.

A novel gene editing system to treat both Tay-Sachs and Sandhoff diseases.

Bi-functional IgG-lysosomal enzyme fusion proteins for brain drug delivery.

A Safe and Reliable Technique for CNS Delivery of AAV Vectors in the Cisterna Magna.

International perspectives on the implementation of reproductive carrier screening.

Advances in Sphingolipidoses: CRISPR-Cas9 Editing as an Option for Modelling and Therapy.

Search-and-replace genome editing without double-strand breaks or donor DNA.

A misleading presentation of juvenile Tay Sachs disease.

Unusual case of Juvenile Tay-Sachs disease.

CSF N-Glycoproteomics Using MALDI MS Techniques in Neurodegenerative Diseases.

Prenatal enzymatic diagnosis of lysosomal storage diseases using cultured amniotic cells, uncultured chorionic villus samples, and fetal blood cells: Hacettepe experience.

Identification of novel variants in a large cohort of children with Tay-Sachs disease: An initiative of a multicentric task force on lysosomal storage disorders by Government of India.

Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.

Screening for Tay-Sachs disease carriers by full-exon sequencing with novel variant interpretation outperforms enzyme testing in a pan-ethnic cohort.

Presynaptic Dysfunction in Neurons Derived from Tay-Sachs iPSCs.

Early juvenile Tay-Sachs disease with atypical symptoms.

Ganglioside GM2 catabolism is inhibited by storage compounds of mucopolysaccharidoses and by cationic amphiphilic drugs.

Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay-Sachs disease.

Membrane lipids and their degradation compounds control GM2 catabolism at intralysosomal luminal vesicles.

Patients' reactions and follow-up testing decisions related to Tay-Sachs (HEXA) variants of uncertain significance results.

LATE-ONSET LYSOSOMAL STORAGE DISORDER WITH MACULAR CHERRY-RED SPOT.

A possible biomarker of neurocytolysis in infantile gangliosidoses: aspartate transaminase.

Patient-Derived Phenotypic High-Throughput Assay to Identify Small Molecules Restoring Lysosomal Function in Tay-Sachs Disease.

Inborn Errors of Metabolism: From Preconception to Adulthood.

Tay-Sachs disease: a novel mutation from India.

New Approaches to Tay-Sachs Disease Therapy.

Efficacy of a Bicistronic Vector for Correction of Sandhoff Disease in a Mouse Model.

Prenatal Diagnosis of Tay-Sachs Disease.

Progranulin associates with hexosaminidase A and ameliorates GM2 ganglioside accumulation and lysosomal storage in Tay-Sachs disease.

Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease.

Magnetic resonance imaging findings in Tay-Sachs disease.

Tay-Sachs Disease Presenting as Refractory Epilepsy with Autistic Regression Secondary to a Novel Mutation in HEXA Gene.

Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India.

Presentation of central precocious puberty in two patients with Tay-Sachs disease.

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.

Genetics and Therapies for GM2 Gangliosidosis.

Cerebral organoids derived from Sandhoff disease-induced pluripotent stem cells exhibit impaired neurodifferentiation.

Distinct progression patterns of brain disease in infantile and juvenile gangliosidoses: Volumetric quantitative MRI study.

Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease.

Translational Aspects of Sphingolipid Metabolism in Renal Disorders.

Lysosomal storage diseases.

Enzymatic properties of β-N-acetylglucosaminidases.

Expression of the GM2 activator protein in mouse testis.

[Cherry red spot macula in the context of Tay-Sachs disease].

Murine Sialidase Neu3 facilitates GM2 degradation and bypass in mouse model of Tay-Sachs disease.

In silico analyses of essential interactions of iminosugars with the Hex A active site and evaluation of their pharmacological chaperone effects for Tay-Sachs disease.