Associated Papers
Genetic Insights and Clinical Implications of NEU1 Mutations in Sialidosis.
Peng ML et al.
Genes, 2025
Two cases of type I sialidosis and a literature review.
Ding Y et al.
Orphanet Journal of Rare Diseases, 2024
AAV-mediated gene therapy for sialidosis.
van de Vlekkert D et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2024
Clinical and Structural Characteristics of NEU1 Variants Causing Sialidosis Type 1.
Li Y et al.
Journal of Movement Disorders, 2024
AAV-mediated gene therapy for Sialidosis.
van de Vlekkert D et al.
Biorxiv : the Preprint Server for Biology, 2023
An iPSC-based neural model of sialidosis uncovers glycolytic impairment-causing presynaptic dysfunction and deregulation of Ca2+ dynamics.
Odaka H et al.
Neurobiology of Disease, 2021
Using Bibliometric Analysis and Machine Learning to Identify Compounds Binding to Sialidase-1.
Klein JJ et al.
Acs Omega, 2021
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
Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1.
Han X et al.
Molecular Genetics & Genomic Medicine, 2020
Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I.
Mosca R et al.
Journal of Clinical Medicine, 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
Pre-clinical Mouse Models of Neurodegenerative Lysosomal Storage Diseases.
Favret JM et al.
Frontiers in Molecular Biosciences, 2020
Sialidosis: A Review of Morphology and Molecular Biology of a Rare Pediatric Disorder.
Khan A et al.
Diagnostics (basel, Switzerland), 2018
Chaperone-mediated gene therapy with recombinant AAV-PPCA in a new mouse model of type I sialidosis.
Bonten EJ et al.
Biochimica Et Biophysica Acta, 2013
Molecular pathology of NEU1 gene in sialidosis.
Seyrantepe V et al.
Human Mutation, 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
Pathogenesis, Emerging therapeutic targets and Treatment in Sialidosis.
d'Azzo A et al.
Expert Opinion on Orphan Drugs, 0