Associated Papers
Sialidosis type 1 in a Turkish family: a case report and review of literatures.
Kılıç M et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2025
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
Clinical and Structural Characteristics of NEU1 Variants Causing Sialidosis Type 1.
Li Y et al.
Journal of Movement Disorders, 2024
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
Modeling Sialidosis with Neural Precursor Cells Derived from Patient-Derived Induced Pluripotent Stem Cells.
Seol B et al.
International Journal of Molecular Sciences, 2021
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 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
Looking "Cherry Red Spot Myoclonus" in the Eyes: Clinical Phenotype, Treatment Response, and Eye Movements in Sialidosis Type 1.
Riboldi GM et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2021
High-depth African genomes inform human migration and health.
Choudhury A et al.
Nature, 2020
Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1.
Han X et al.
Molecular Genetics & Genomic Medicine, 2020
Generation of human induced pluripotent stem cells (hIPSCs) from sialidosis types I and II patients with pathogenic neuraminidase 1 mutations.
Han MJ et al.
Stem Cell Research, 2020
Clinical and genetic characteristics of type I sialidosis patients in mainland China.
Lv RJ et al.
Annals of Clinical and Translational Neurology, 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
In silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localization.
Bonardi D et al.
Plos One, 2014
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
Clinical and serial MRI findings of a sialidosis type I patient with a novel missense mutation in the NEU1 gene.
Sekijima Y et al.
Internal Medicine (tokyo, Japan), 2013
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
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Sialidosis type I carrying V217M/G243R mutations in lysosomal sialidase: an autopsy study demonstrating terminal sialic acid in lysosomal lamellar inclusions and cerebellar dysplasia.
Uchihara T et al.
Acta Neuropathologica, 2010
Elimination of abnormal sialylglycoproteins in fibroblasts with sialidosis and galactosialidosis by normal gene transfer and enzyme replacement.
Oheda Y et al.
Glycobiology, 2006
Elastogenesis in cultured dermal fibroblasts from patients with lysosomal beta-galactosidase, protective protein/cathepsin A and neuraminidase-1 deficiencies.
Tatano Y et al.
The Journal of Medical Investigation : Jmi, 2006
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
Mutations in sialidosis impair sialidase binding to the lysosomal multienzyme complex.
Lukong KE et al.
The Journal of Biological Chemistry, 2001