Associated Papers
Type 2 Sialidosis: A Rare Autosomal Recessive Condition in a 13-Year-Old Male: A Case Report.
Yadav KK et al.
Clinical Case Reports, 2025
Genetic Insights and Clinical Implications of NEU1 Mutations in Sialidosis.
Peng ML et al.
Genes, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 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
Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India.
Sheth H et al.
Human Genomics, 2024
A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project.
Seaby EG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Juvenile sialidosis: a rare case and review of the literature.
Pokharel P et al.
Annals of Medicine and Surgery (2012), 2024
Long-range PCR amplification-based targeted enrichment & next generation sequencing: A cost-effective testing strategy for lysosomal storage disorders.
Vanaja MC et al.
The Indian Journal of Medical Research, 2023
Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann-Pick Type C.
Capitini C et al.
Biomedicines, 2022
Delineating the Neuropathology of Lysosomal Storage Diseases Using Patient-Derived Induced Pluripotent Stem Cells.
Sabitha KR et al.
Stem Cells and Development, 2022
Progressive Myoclonus Epilepsies: Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved Cases.
Canafoglia L et al.
Neurology. Genetics, 2021
A Case of Type 2 Sialidosis With Deletion of a Single Nucleotide at Position c.947 of the Neuraminidase 1 (NEU1) Gene.
Hassan M et al.
Cureus, 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
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
Sialidosis Type I without a Cherry Red Spot- Is There a Genetic Basis?
Neeraja K et al.
Journal of Movement Disorders, 2021
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
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 presenting with ataxia, seizures and myoclonus with no visual involvement.
Mohammad AN et al.
Molecular Genetics and Metabolism Reports, 2018
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.
Mütze U et al.
Molecular Genetics and Metabolism Reports, 2017
Pitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid Excretion.
Schene IF et al.
Jimd Reports, 2016
Biochemical and molecular characterization of novel mutations in GLB1 and NEU1 in patient cells with lysosomal storage disorders.
Kwak JE et al.
Biochemical and Biophysical Research Communications, 2015
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
Muona M et al.
Nature Genetics, 2015
Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus.
Canafoglia L et al.
Neurology, 2014
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
Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients.
Caciotti A et al.
Journal of Neurology, 2009
Combined tarsal and carpal tunnel syndrome in mucolipidosis type III. A case study and review.
Smuts I et al.
Annals of the New York Academy of Sciences, 2009
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
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
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