ArticleMolecular genetics and metabolism reports2018
Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement.
Article in Molecular genetics and metabolism reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
13 citing papers in PubMed, 24 citations in OpenAlex.
- Review
- Genetic Insights and Clinical Implications ofGenes · 2025Review
- Two cases of type I sialidosis and a literature review.Orphanet journal of rare diseases · 2024Review
- Progressive myoclonic ataxia as an initial symptom of typical type I sialidosis with NEU1 mutation.Annals of clinical and translational neurology · 2024Article
- Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients.Orphanet journal of rare diseases · 2023Article
- NEU1-A Unique Therapeutic Target for Alzheimer's Disease.Frontiers in pharmacology · 2022Review
- Modeling Sialidosis with Neural Precursor Cells Derived from Patient-Derived Induced Pluripotent Stem Cells.International journal of molecular sciences · 2021Article
- Compound heterozygous mutations in the neuraminidase 1 gene in type 1 sialidosis: A case report and review of literature.World journal of clinical cases · 2021Article
- Myoclonus-Ataxia Syndromes: A Diagnostic Approach.Movement disorders clinical practice · 2021Review
- Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1.Molecular genetics & genomic medicine · 2020Article
- The infantile neuroaxonal dystrophy rating scale (INAD-RS).Orphanet journal of rare diseases · 2020Article
- Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I.Journal of clinical medicine · 2020Article
- Type 1 Sialidosis Patient With a Novel Deletion Mutation in the NEU1 Gene: Case Report and Literature Review.Cerebellum (London, England) · 2019Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Sialidosis is an autosomal recessive lysosomal storage disease caused by pathogenic variants in
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.