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

Therapeutic Effects of Nizubaglustat in a Mouse Model of GM2 Gangliosidosis.

First Reported Case of CLN5 Disease in Japan: Identification of a Novel Homozygous Pathogenic Variant Through Whole Genome Sequencing.

New multiplex LC-MS/MS method for lipid biomarker analysis of inherited neurodegenerative metabolic diseases.

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

A novel HEXA frameshift mutation identified in Angus cattle with GM2 gangliosidosis.

GM2 Gangliosidosis AB Variant: A Hidden Truth.

Similarities and Differences in the Late-Onset GM2 Gangliosidoses: Tay-Sachs and Sandhoff Diseases.

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.

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.

Robot-assisted intrathalamic infusion for gene therapy in young children: surgical considerations.

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

Unravelling the Global Tapestry of Genetic Ataxias: Epidemiology and Genetic Testing Approaches.

Subacute Juvenile Sandhoff Disease: A Progressive Neurodegenerative Disorder.

Myotonic Discharges in Infantile Sandhoff Disease.

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

At-home wearables and machine learning capture motor impairment and progression in adult ataxias.

Deep Learning Cerebellar Magnetic Resonance Imaging Segmentation in Late-Onset GM2 Gangliosidosis: Implications for Phenotype.

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

Evaluation of the Landscape of Pharmacodynamic Biomarkers in GM1 and GM2 Gangliosidosis.

Comparison of Inpatient and Emergency Department Costs to Research Funding for Functional Neurologic Disorder: An Economic Analysis.

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

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

Dysregulation of the NLRP3 Inflammasome and Promotion of Disease by IL-1β in a Murine Model of Sandhoff Disease.

Montreal cognitive assessment as a cognitive outcome measure in progressive supranuclear palsy.

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

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

Intravenous gene therapy improves lifespan and clinical outcomes in feline Sandhoff Disease.

Voice of the Patient Report on GM2 Gangliosidosis (Tay-Sachs and Sandhoff).

4-Phenylbutyric acid mitigates ER stress-induced neurodegeneration in the spinal cords of a GM2 gangliosidosis mouse model.

A multiplexed targeted method for profiling of serum gangliosides and glycosphingolipids: application to GM2-gangliosidosis.

Role of Botulinum Toxin in Treatment of Secondary Dystonia: A Case Series and Overview of Literature.

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

Motor assessment of X-linked dystonia parkinsonism via machine-learning-based analysis of wearable sensor data.

Atypical granulation in neutrophils of a domestic shorthair cat.

Clinical, Imaging, Genetic, and Disease Course Characteristics in Patients With GM2 Gangliosidosis: Beyond Age of Onset.

GM1 and GM2-Gangliosidosis: Clinical Features, Neuroimaging Findings and Electroencephalography.

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

Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature.

Childhood-onset writer's cramp, with later ataxia: A clue to COQ8A-related disorders.

Infantile Monosialoganglioside2 (GM2) Gangliosidosis With Concurrent Bronchopneumonia: An Extraordinary Case 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.

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

Characterization of a phenotypically severe animal model for human AB-Variant GM2 gangliosidosis.

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

Clinical and imaging predictors of late-onset GM2 gangliosidosis: A scoping review.

Targeting GM2 Ganglioside Accumulation in Dementia: Current Therapeutic Approaches and Future Directions.

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

Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options.

High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry.

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

Life-Limiting Peripheral Organ Dysfunction in Feline Sandhoff Disease Emerges after Effective CNS Gene Therapy.

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

Biochemical Correction of GM2 Ganglioside Accumulation in AB-Variant GM2 Gangliosidosis.

Multimodal optical imaging and genetic features of AB variant GM2 gangliosidosis: a case report.

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

Ursodeoxycholic Acid Binds PERK and Ameliorates Neurite Atrophy in a Cellular Model of GM2 Gangliosidosis.

Gene Therapy of Sphingolipid Metabolic Disorders.

Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders.

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

Efficacy and Safety of N-Acetyl-l-Leucine in Children and Adults With GM2 Gangliosidoses.

Clinical Presentation and Genetic Heterogeneity Including Two Novel Variants in Sri Lankan Patients With Infantile Sandhoff Disease.

Gene Expression Profile in the Sandhoff Mouse Brain with Progression of Age.

Objective Assessment of Upper-Extremity Motor Functions in Spinocerebellar Ataxia Using Wearable Sensors.

Lessons Learned in Outpatient Physical Therapy for Motor Functional Neurological Disorder.

GM2 gangliosidosis AB variant: first case of late onset and review of the literature.

Rare Diseases in Glycosphingolipid Metabolism.

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

Plasma neurofilament light, glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients.

Skeletal radiographic manifestations of GM2 gangliosidosis variant 0 (Sandhoff disease) in two Japanese domestic cats.

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

A case of spastic paraplegia type 11 mimicking a GM2-gangliosidosis.

Positioning Head Tilt in Canine Lysosomal Storage Disease: A Retrospective Observational Descriptive Study.

Atypical presentation of late-onset Sandhoff disease: a case report.

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.

Chitotriosidase as a biomarker for gangliosidoses.

Treatment of GM2 Gangliosidosis in Adult Sandhoff Mice Using an Intravenous Self-Complementary Hexosaminidase Vector.

The incidence rate of hospitalized lysosomal storage diseases in Poland in 2013-2015 based on data from the National Health Fund.

White Matter Pathology as a Barrier to Gangliosidosis Gene Therapy.

Neither a Novel Tau Proteinopathy nor an Expansion of a Phenotype: Reappraising Clinicopathology-Based Nosology.

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

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

Late onset Sandhoff disease presenting with lower motor neuron disease and stuttering.

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

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.

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

A case of adult onset Sandhoff disease that mimics Brown-Vialetto-Van Laere syndrome.

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.

Cerebellar atrophy on top of motor neuron compromise as indicator of late-onset GM2 gangliosidosis.

Acetyl-leucine slows disease progression in lysosomal storage disorders.

Sandhoff disease in the elderly: a case study.

Functional Dystonia: Differentiation From Primary Dystonia and Multidisciplinary Treatments.

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.

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

The juvenile gangliosidoses: A timeline of clinical change.

Human recombinant lysosomal β-Hexosaminidases produced in Pichia pastoris efficiently reduced lipid accumulation in Tay-Sachs fibroblasts.

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

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

Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants.

Pharmacokinetics, Pharmacodynamics, Safety, and Tolerability of Oral Venglustat in Healthy Volunteers.

Lyso-glycosphingolipids: presence and consequences.

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.

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

Lysosomal Ceramide Metabolism Disorders: Implications in Parkinson's Disease.

Natural History of Adult Patients with GM2 Gangliosidosis.

Quantitative oculomotor and nonmotor assessments in late-onset GM2 gangliosidosis.

Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families.

Novel bicistronic lentiviral vectors correct β-Hexosaminidase deficiency in neural and hematopoietic stem cells and progeny: implications for in vivo and ex vivo gene therapy of GM2 gangliosidosis.

Large animal models contribute to the development of therapies for central and peripheral nervous system dysfunction in patients with lysosomal storage diseases.

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

Presynaptic Dysfunction in Neurons Derived from Tay-Sachs iPSCs.

Integrated Computational Analysis Highlights unique miRNA Signatures in the Subventricular Zone and Striatum of GM2 Gangliosidosis Animal Models.

Early juvenile Tay-Sachs disease with atypical symptoms.

Lysosomal Glycosphingolipid Storage Diseases.

Substrate Reduction Therapy for Sandhoff Disease through Inhibition of Glucosylceramide Synthase Activity.

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.

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

New Approaches to Tay-Sachs Disease Therapy.

Neurite atrophy and apoptosis mediated by PERK signaling after accumulation of GM2-ganglioside.

Metabolomics profiling reveals profound metabolic impairments in mice and patients with Sandhoff disease.

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

Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations.

THE LYSOSOMAL STORAGE DISEASE GM2 GANGLIOSIDOSIS IN CAPTIVE BANDED MONGOOSE SIBLINGS ( MUNGOS MUNGO).

Genetics and Therapies for GM2 Gangliosidosis.

Two-Year Follow-Up Magnetic Resonance Imaging and Spectroscopy Findings and Cerebrospinal Fluid Analysis of a Dog with Sandhoff's Disease.

Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.

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.

Lysosomal storage diseases.

Canine GM2-Gangliosidosis Sandhoff Disease Associated with a 3-Base Pair Deletion in the HEXB Gene.

GM2 Gangliosidosis in Shiba Inu Dogs with an In-Frame Deletion in HEXB.

LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease.

Infantile gangliosidoses: Mapping a timeline of clinical changes.

[Clinical characteristics of early juvenile GM2 gangliosidosis: a case report].

Rare Variant of GM2 Gangliosidosis through Activator-Protein Deficiency.

Infantile Sandhoff Disease: Unusual presentation.

CT and MRI findings in a case of infantile form of GM2 gangliosidosis: Tay-Sachs disease.

Animal models of GM2 gangliosidosis: utility and limitations.

The GM1 and GM2 Gangliosidoses: Natural History and Progress toward Therapy.

GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review.

Combined replacement effects of human modified β-hexosaminidase B and GM2 activator protein on GM2 gangliosidoses fibroblasts.

Systemic Gene Transfer of a Hexosaminidase Variant Using an scAAV9.47 Vector Corrects GM2 Gangliosidosis in Sandhoff Mice.

Novel Vector Design and Hexosaminidase Variant Enabling Self-Complementary Adeno-Associated Virus for the Treatment of Tay-Sachs Disease.

N-butyldeoxynojirimycin treatment restores the innate fear response and improves learning in mucopolysaccharidosis IIIA mice.

In situ detection of GM1 and GM2 gangliosides using immunohistochemical and immunofluorescent techniques for auxiliary diagnosis of canine and feline gangliosidoses.

Clinical,biochemical and molecular analysis of five Chinese patients with Sandhoff disease.

Protease-resistant modified human β-hexosaminidase B ameliorates symptoms in GM2 gangliosidosis model.

Infantile Type Sandhoff Disease with Striking Brain MRI Findings and a Novel Mutation.

GM2 Gangliosidosis Variant 0 (Sandhoff Disease) in a Mixed-Breed Dog.

GABAergic Pharmacotherapy in the Treatment of Motor Disorders of the Central Nervous System.

CSF N-glycan profile reveals sialylation deficiency in a patient with GM2 gangliosidosis presenting as childhood disintegrative disorder.

The Big Bluff of Amyotrophic Lateral Sclerosis Diagnosis: The Role of Neurodegenerative Disease Mimics.

Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome.

Dysarthria and Stutter as Presenting Symptoms of Late-Onset Tay-Sachs Disease in Three Siblings.

GM2-Gangliosidosis, AB Variant: Clinical, Ophthalmological, MRI, and Molecular Findings.

Mucopolysaccharidosis-like phenotype in feline Sandhoff disease and partial correction after AAV gene therapy.

Pendular nystagmus, palatal tremor and progressive ataxia in GM2-gangliosidosis.

Cerebrospinal Fluid Monoamine Metabolite Analysis in Pediatric Movement Disorders.

Concurrent diagnoses of Prader-Willi syndrome and GM2 gangliosidosis caused by uniparental disomy of chromosome 15.

The first family with Tay-Sachs disease in Cyprus: Genetic analysis reveals a nonsense (c.78G>A) and a silent (c.1305C>T) mutation and allows preimplantation genetic diagnosis.