Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Sialidosis type I presenting with a novel mutation and advanced neuroimaging features.

Neurosciences (Riyadh, Saudi Arabia) - 1 Jan 2018

Gultekin Murat, Bayramov Ruslan, Karaca Cagatay, Acer Niyazi

Abstract excerpt

Sialidosis is a rare lysosomal storage disease caused by neuraminidase gene (NEU1) mutation and a deficiency of the enzyme neuraminidase. The aim of this study was to examine the sialidosis type 1 brain using volumetric magnetic resonance imaging (MRI), diffusion tensor imaging and functional MRI in comparison to 3 controls. The patients gene analysis identified compound heterozygous mutation in the NEU1 that is...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cerebellum
Share to Diffusion Tensor Imaging
Share to Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mucolipidoses

Share to Mutation

Share to Neuraminidase

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 29455223
DOI: 10.17712/nsj.2018.1.20170328
PMCID: PMC6751914

Genes

NEU1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Sialidosis type I presenting with a novel mutation and advanced neuroimaging features.PMID 29455223Read ↗

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

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

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

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

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

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

Novel form of intermediate salla disease: clinical and neuroimaging features.Semantic proximity Read ↗

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

Secondary deficiency of neuraminidase 1 contributes to CNS pathology in neurological mucopolysaccharidoses via hypersialylation of brain glycoproteinsSemantic proximity Read ↗

First report of two Taiwanese siblings with sialidosis type I: a 10-year follow-up study.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.