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
Spectrum of inherited eye disorders at Hong Kong Children's Hospital: insights into the local genetic landscape and experience with ocular genetic services.
Cheng SSW et al.
Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2025
Type I Sialidosis in a Chinese family: a case report and literature review.
Zhou X et al.
Acta Epileptologica, 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
Progressive myoclonic ataxia as an initial symptom of typical type I sialidosis with NEU1 mutation.
Lin J et al.
Annals of Clinical and Translational Neurology, 2024
Genotype-phenotype correlation and founder effect analysis in southeast Chinese patients with sialidosis type I.
Du YC et al.
Orphanet Journal of Rare Diseases, 2024
Neuraminidase-1 (NEU1): Biological Roles and Therapeutic Relevance in Human Disease.
Du J et al.
Current Issues in Molecular Biology, 2024
Clinical and Structural Characteristics of NEU1 Variants Causing Sialidosis Type 1.
Li Y et al.
Journal of Movement Disorders, 2024
The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia in China: a large cohort study.
Ouyang R et al.
Ebiomedicine, 2024
Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature.
Sheth J et al.
Jimd Reports, 2024
Sialidosis type 1 without cherry-red spots: a case report and literature review.
Zhang C et al.
Bmj Neurology Open, 2024
Neurophysiolgical implications in sialidosis type 1: a case report.
Wang F et al.
The International Journal of Neuroscience, 2022
Multimodal imaging findings in a patient with type I sialidosis with a compound heterozygous mutation in the NEU1 gene.
Wan C et al.
Quantitative Imaging in Medicine and Surgery, 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
Rare Variants Analysis of Lysosomal Related Genes in Early-Onset and Familial Parkinson's Disease in a Chinese Cohort.
Chen YP et al.
Journal of Parkinson's Disease, 2021
Homozygosity mapping and next generation sequencing for the genetic diagnosis of hereditary ataxia and spastic paraplegia in consanguineous families.
Jiao B et al.
Parkinsonism & Related Disorders, 2020
Role of induced pluripotent stem cells in lysosomal storage diseases.
Kido J et al.
Molecular and Cellular Neurosciences, 2020
Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1.
Han X et al.
Molecular Genetics & Genomic Medicine, 2020
Heterozygous structural variation mimicking homozygous missense mutations in NEU1 associated with presenting clinical signs in eyes alone.
Li X et al.
Ophthalmic Genetics, 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
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
Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement.
Mohammad AN et al.
Molecular Genetics and Metabolism Reports, 2018
Generation of novel induced pluripotent stem cell (iPSC) line from a 16-year-old sialidosis patient with NEU-1 gene mutation.
Liu SP et al.
Stem Cell Research, 2018
Seizure remission and improvement of neurological function in sialidosis with perampanel therapy.
Hu SC et al.
Epilepsy & Behavior Case Reports, 2018
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
A longitudinal study of Taiwanese sialidosis type 1: an insight into the concept of cherry-red spot myoclonus syndrome.
Lai SC et al.
European Journal of Neurology, 2009
Abnormal cortical excitability with preserved brainstem and spinal reflexes in sialidosis type I.
Huang YZ et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology, 2008
First report of two Taiwanese siblings with sialidosis type I: a 10-year follow-up study.
Chen CM et al.
Journal of the Neurological Sciences, 2006
Molecular pathology of NEU1 gene in sialidosis.
Seyrantepe V et al.
Human Mutation, 2003
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
Optical coherence tomography features in a case of Type I sialidosis.
Wang IH et al.
Taiwan Journal of Ophthalmology, 0