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Child Neurology: Type 1 sialidosis due to a novel mutation in NEU1 gene.

Neurology - 27 Mar 2018

Aravindhan Akilandeswari, Veerapandiyan Aravindhan, Earley Chelsea, Thulasi Venkatraman, Kresge Christina, Kornitzer Jeffrey

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 29581327
DOI: 10.1212/WNL.0000000000005209

Genes

NEU1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Child Neurology: Type 1 sialidosis due to a novel mutation in NEU1 gene.PMID 29581327Read ↗

Type 1 Sialidosis Patient With a Novel Deletion Mutation in the NEU1 Gene: Case Report and Literature ReviewSemantic proximity Read ↗

NEU1 mutation in a Korean infant with type 2 sialidosis presenting as isolated fetal ascites.Semantic proximity Read ↗

Novel mutations in the neuraminidase-1 (NEU1) gene in two patients of sialidosis in India.Semantic proximity Read ↗

Clinical and electrophysiological characteristics of a type 1 sialidosis patient with a novel deletion mutation in NEU1 geneSemantic proximity Read ↗

Clinical and serial MRI findings of a sialidosis type I patient with a novel missense mutation in the NEU1 gene.Semantic proximity Read ↗

Genetic Insights and Clinical Implications of NEU1 Mutations in SialidosisSemantic proximity Read ↗

Molecular pathology of NEU1 gene in sialidosis.Semantic proximity Read ↗

Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvementSemantic proximity Read ↗

Progressive myoclonic ataxia as an initial symptom of typical type I sialidosis with NEU1 mutation.Semantic proximity Read ↗

Cerebral palsy is not a diagnosis: A case report of a novel atlastin-1 mutation.Semantic proximity Read ↗

Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview.Semantic proximity Read ↗

In silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localization.Semantic proximity Read ↗

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