Progressive Myoclonic Epilepsies - A Pragmatic Review.

Alterations in secondary lipids are associated with neuroinflammation in the brain of Neu1-deficient mice.

Sialidosis type I: How to alleviate disabling myoclonic seizures?-A multicenter analysis of eight cases and review of the literature.

Enhanced lysosomal exocytosis and altered growth factor signaling are associated with cartilage pathology in a model of mucopolysaccharidosis type IVA.

Failure of Allogeneic Transplant to Correct Sialidosis Despite Early Diagnosis and Full Donor Engraftment of Non-Carrier Leucocytes.

Disorders in sialic acid metabolism and sialylation pathway.

Type I Sialidosis in a Chinese family: a case report and literature review.

Type 2 Sialidosis: A Rare Autosomal Recessive Condition in a 13-Year-Old Male: A Case Report.

Cathepsin B inhibition blocks amyloidogenesis in the mouse models of neurological lysosomal diseases MPS IIIC and sialidosis.

Genetic Insights and Clinical Implications of NEU1 Mutations in Sialidosis.

Neuraminidase 1 regulates neuropathogenesis by governing the cellular state of microglia via modulation of Trem2 sialylation.

Ocular Type 1 Sialidosis.

Sialidosis type 1 in a Turkish family: a case report and review of literatures.

Two cases of type I sialidosis and a literature review.

Progressive myoclonic ataxia as an initial symptom of typical type I sialidosis with NEU1 mutation.

Oncological Aspects of Lysosomal Storage Diseases.

Genotype-phenotype correlation and founder effect analysis in southeast Chinese patients with sialidosis type I.

Neu1 deficiency and fibrotic lymph node microenvironment lead to imbalance in M1/M2 macrophage polarization.

Neuraminidase-1 (NEU1): Biological Roles and Therapeutic Relevance in Human Disease.

Neuraminidase 1 regulates the cellular state of microglia by modulating the sialylation of Trem2.

AAV-mediated gene therapy for sialidosis.

Unique clinical and electrophysiological features in the peripheral nerve system in patients with sialidosis - a case series study.

Clinical and Structural Characteristics of NEU1 Variants Causing Sialidosis Type 1.

Juvenile sialidosis: a rare case and review of the literature.

[Progressive myoclonic epilepsy: a retrospective study of newly-diagnosed adult patients from a single center].

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

Sialidosis type 1 without cherry-red spots: a case report and literature review.

Gene therapy corrects the neurological deficits of mice with sialidosis.

Non-immune hydrops fetalis due to infantile sialidosis.

Lysosomal sialidase NEU1, its intracellular properties, deficiency, and use as a therapeutic agent.

Possible Choroidal Hyperpermeability in Cherry-Red Spot: A Connection to Transretinal Hyperreflective Foveola in Type 1 Sialidosis.

Severe kidney dysfunction in sialidosis mice reveals an essential role for neuraminidase 1 in reabsorption.

Novel Pathogenic Variant in the NEU1 Gene in a Patient With Sialidosis With Progressive Myoclonus Ataxia With Cherry-Red Spot.

Structure of the immunoregulatory sialidase NEU1.

Deep brain stimulation for Myoclonus in sialidosis I.

A novel spot mutation leading to sialidosis type 1-myoclonus syndrome and optical coherence tomography findings.

Severe dilated cardiomyopathy as an unusual clinical presentation in an infant with sialidosis type II.

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

Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann-Pick Type C.

NEU1-A Unique Therapeutic Target for Alzheimer's Disease.

Ascites in infantile onset type II Sialidosis.

Myoclonus generators in sialidosis.

Hematopoietic cell transplantation for sialidosis type I.

A Case of Type 2 Sialidosis With Deletion of a Single Nucleotide at Position c.947 of the Neuraminidase 1 (NEU1) Gene.

Looking "Cherry Red Spot Myoclonus" in the Eyes: Clinical Phenotype, Treatment Response, and Eye Movements in Sialidosis Type 1.

Multimodal imaging findings in a patient with type I sialidosis with a compound heterozygous mutation in the NEU1 gene.

Clinical Exome Sequencing Enables Congenital Sialidosis Type II Diagnosis in Two Siblings Presenting with Unreported Clinical Features from a Rare Homozygous Sequence Variant p.(Tyr370Cys) in NEU1.

Prospects for the use of indicators of sialic acid metabolism in medicine (review of literature).

Teaching Video NeuroImage: Clues in Myoclonus Evaluation: When to Consider Sialidosis.

Neu1 deficiency induces abnormal emotional behavior in zebrafish.

Early defects in mucopolysaccharidosis type IIIC disrupt excitatory synaptic transmission.

Lysosomal storage disorders as an etiology of nonimmune hydrops fetalis: A systematic review.

Structure of the murine lysosomal multienzyme complex core.

Modeling Sialidosis with Neural Precursor Cells Derived from Patient-Derived Induced Pluripotent Stem Cells.

Ataxia and Myoclonus with a Cherry-Red Spot Unfurling an Unusual Phenotypic Presentation of Sialidosis Type 1.

Perampanel Improves Cortical Myoclonus and Disability in Progressive Myoclonic Epilepsies: A Case Series and a Systematic Review of the Literature.

Therapeutic Potential of Neu1 in Alzheimer's Disease Via the Immune System.

High diagnosis rate for nonimmune hydrops fetalis with prenatal clinical exome from the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study.

Anesthetic management for mastectomy and total hysterectomy in a 49-year-old woman with type 1 sialidosis: a case report.

Using Bibliometric Analysis and Machine Learning to Identify Compounds Binding to Sialidase-1.

Compound heterozygous mutations in the neuraminidase 1 gene in type 1 sialidosis: A case report and review of literature.

An iPSC-based neural model of sialidosis uncovers glycolytic impairment-causing presynaptic dysfunction and deregulation of Ca2+ dynamics.

Cardiovascular involvement in alpha-n-acetyl neuraminidase deficiency syndromes (sialidosis type I and II).

Corrigendum: Optical coherence tomography features in a case of Type I sialidosis.

A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders.

Impaired Autophagy in Retinal Pigment Epithelial Cells Induced from iPS Cell of Distal Myopathy with Rimmed Vacuole Patient.

Sialidosis Type I without a Cherry Red Spot- Is There a Genetic Basis?

Neurophysiolgical implications in sialidosis type 1: a case report.

Bergmeister's papilla in a young patient with type 1 sialidosis: case report.

A sialidosis type I cohort and a quantitative approach to multimodal ophthalmic imaging of the macular cherry-red spot.

Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients.

Identification of a homozygous deletion of the NEU1 gene in a patient with type II sialidosis presenting isolated fetal ascites and central nervous system hypoplasia.

Intermittent enzyme replacement therapy with recombinant human β-galactosidase prevents neuraminidase 1 deficiency.

Establishment and characterization of Neu1-knockout zebrafish and its abnormal clinical phenotypes.

The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases.

Generation of human induced pluripotent stem cells (hIPSCs) from sialidosis types I and II patients with pathogenic neuraminidase 1 mutations.

Clinical and genetic characteristics of type I sialidosis patients in mainland China.

Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1.

Reduction in Myoclonus and Ataxia Following the Use of Perampanel in Patient With Sialidosis Type 1.

Heterozygous structural variation mimicking homozygous missense mutations in NEU1 associated with presenting clinical signs in eyes alone.

Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I.

Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study.

Sialidosis type II: Expansion of phenotypic spectrum and identification of a common mutation in seven patients.

Skeletal muscle cells derived from mouse skin cultures.

Cherry Red Spot Myoclonus Syndrome.

Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview.

An Italian multicentre study of perampanel in progressive myoclonus epilepsies.

Clinical and electrophysiological characteristics of a type 1 sialidosis patient with a novel deletion mutation in NEU1 gene.

Multiple foraminal compression in a child with sialidosis type 2.

Excessive exosome release is the pathogenic pathway linking a lysosomal deficiency to generalized fibrosis.

[Pathogenic gene variants and clinical phenotype features of 26 children with progressive myoclonic epilepsy].

Sialidosis Type 1 Without Cherry-Red Spot.

Sialidosis Type 1: Giant SSEP and Novel Mutation.

Type 1 Sialidosis Patient With a Novel Deletion Mutation in the NEU1 Gene: Case Report and Literature Review.

Parental Whole-Exome Sequencing Enables Sialidosis Type II Diagnosis due to an NEU1 Missense Mutation as an Underlying Cause of Nephrotic Syndrome in the Child.

Infantile sialidosis: natural history in a preterm infant with two new pathogenic mutations and new ocular findings.

UPLC-MS/MS Analysis of Urinary Free Oligosaccharides for Lysosomal Storage Diseases: Diagnosis and Potential Treatment Monitoring.

Diagnostics and Therapy of Human Diseases - Focus on Sialidases.

Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement.

Seizure remission and improvement of neurological function in sialidosis with perampanel therapy.

Sialidosis: A Review of Morphology and Molecular Biology of a Rare Pediatric Disorder.

Child Neurology: Type 1 sialidosis due to a novel mutation in NEU1 gene.

Sialidosis type I presenting with a novel mutation and advanced neuroimaging features.

Generation of novel induced pluripotent stem cell (iPSC) line from a 16-year-old sialidosis patient with NEU-1 gene mutation.

Identification of the alpha-enolase P46 in the extracellular membrane vesicles of Bacteroides fragilis.

Optical coherence tomography features in a case of Type I sialidosis.

Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidoses.

Sialidosis Type 1 with a Novel Mutation in the Neuraminidase-1 (NEU1) Gene.

NEU1 sialidase controls gene expression and secretion of IL-6 and MCP-1 through NF-κB pathway in 3T3-L1 adipocytes.

Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings.

Measurement of Elevated Concentrations of Urine Keratan Sulfate by UPLC-MSMS in Lysosomal Storage Disorders (LSDs): Comparison of Urine Keratan Sulfate Levels in MPS IVA Versus Other LSDs.

Optical coherence tomography findings in a patient with type 1 sialidosis.

Fundus autofluorescence and optical coherence tomography of a macular cherry-red spot in a case report of sialidosis.

Cortical damage in the posterior visual pathway in patients with sialidosis type 1.

Lysosomal localization of Japanese medaka (Oryzias latipes) Neu1 sialidase and its highly conserved enzymatic profiles with human.

Pitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid Excretion.

Neuraminidase-1 mediates skeletal muscle regeneration.

Biochemical and molecular characterization of novel mutations in GLB1 and NEU1 in patient cells with lysosomal storage disorders.

Pathogenesis, Emerging therapeutic targets and Treatment in Sialidosis.