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
Clinical and Structural Characteristics of NEU1 Variants Causing Sialidosis Type 1.
Li Y et al.
Journal of Movement Disorders, 2024
Sialidosis: A Review of Morphology and Molecular Biology of a Rare Pediatric Disorder.
Khan A et al.
Diagnostics (basel, Switzerland), 2018
Disease variants in genomes of 44 centenarians.
Freudenberg-Hua Y et al.
Molecular Genetics & Genomic Medicine, 2014
25333069 (PubMed )
Supplement: mgg30002-0438-SD2.pdf
Novel mutations in the neuraminidase-1 (NEU1) gene in two patients of sialidosis in India.
Ranganath P et al.
The Indian Journal of Medical Research, 2012
Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression.
Pattison S et al.
Human Mutation, 2004
Molecular pathology of NEU1 gene in sialidosis.
Seyrantepe V et al.
Human Mutation, 2003
Clinical variability of type II sialidosis by C808T mutation.
Rodríguez Criado G et al.
American Journal of Medical Genetics. Part A, 2003
Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes.
Itoh K et al.
Journal of Human Genetics, 2002
Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal alpha-N-acetyl-neuraminidase (sialidase) gene.
Sergi C et al.
Human Genetics, 2001
Mutations in sialidosis impair sialidase binding to the lysosomal multienzyme complex.
Lukong KE et al.
The Journal of Biological Chemistry, 2001
Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex.
Lukong KE et al.
Human Molecular Genetics, 2000
Pathogenesis, Emerging therapeutic targets and Treatment in Sialidosis.
d'Azzo A et al.
Expert Opinion on Orphan Drugs, 0
Select a paper to view details