Associated Papers
Clinical Exome Sequencing Enables Congenital Sialidosis Type II Diagnosis in Two Siblings Presenting with Unreported Clinical Features from a Rare Homozygous Sequence Variant p.(Tyr370Cys) in NEU1.
Flores-Contreras EA et al.
Molecular Syndromology, 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
34250953 (PubMed )
Supplement: sj-xlsx-2-pkn-10.3233_jpd-212658.xlsx › Sheet1
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
Molecular pathology of NEU1 gene in sialidosis.
Seyrantepe V et al.
Human Mutation, 2003
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
Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis.
Bonten EJ et al.
Human Molecular Genetics, 2000
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