Associated Papers
Sialidosis type I: How to alleviate disabling myoclonic seizures?-A multicenter analysis of eight cases and review of the literature.
Gburek-Augustat J et al.
Epilepsia Open, 2026
Genetic Insights and Clinical Implications of NEU1 Mutations in Sialidosis.
Peng ML et al.
Genes, 2025
40004480 (PubMed )
Supplement: genes-16-00151-s001.zip › Table_S1.xlsx › clinvar_result
Two cases of type I sialidosis and a literature review.
Ding Y et al.
Orphanet Journal of Rare Diseases, 2024
Clinical and Structural Characteristics of NEU1 Variants Causing Sialidosis Type 1.
Li Y et al.
Journal of Movement Disorders, 2024
38600684 (PubMed )
Supplement: jmd-23145-Supplementary-Table-1.pdf
Compound heterozygous mutations in the neuraminidase 1 gene in type 1 sialidosis: A case report and review of literature.
Cao LX et al.
World Journal of Clinical Cases, 2021
Clarification of undiagnosed ataxia using whole-exome sequencing with clinical implications.
Kim M et al.
Parkinsonism & Related Disorders, 2020
Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1.
Han X et al.
Molecular Genetics & Genomic Medicine, 2020
Clinical and genetic characteristics of type I sialidosis patients in mainland China.
Lv RJ et al.
Annals of Clinical and Translational Neurology, 2020
Sialidosis type II: Expansion of phenotypic spectrum and identification of a common mutation in seven patients.
Arora V et al.
Molecular Genetics and Metabolism Reports, 2020
Clinical and electrophysiological characteristics of a type 1 sialidosis patient with a novel deletion mutation in NEU1 gene.
Fan SP et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2020
Type 1 Sialidosis Patient With a Novel Deletion Mutation in the NEU1 Gene: Case Report and Literature Review.
Ahn JH et al.
Cerebellum (london, England), 2019
Sialidosis type I presenting with a novel mutation and advanced neuroimaging features.
Gultekin M et al.
Neurosciences (riyadh, Saudi Arabia), 2018
Molecular pathology of NEU1 gene in sialidosis.
Seyrantepe V et al.
Human Mutation, 2003
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