ArticleJournal of clinical neurology (Seoul, Korea)2021
A Compound Heterozygous Pathogenic Variant in
Article in Journal of clinical neurology (Seoul, Korea), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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The trial behind it
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Who cites it
4 citing papers in PubMed, 8 citations in OpenAlex.
- Ganglioside GD3 regulates neural stem cell quiescence and controls postnatal neurogenesis.Glia · 2024Article
- Ganglioside GD3 regulates neural stem cell quiescence and controls postnatal neurogenesis.bioRxiv : the preprint server for biology · 2023Article
- Ganglioside Microdomains on Cellular and Intracellular Membranes Regulate Neuronal Cell Fate Determination.Advances in neurobiology · 2023Article
- Functional Impairment of the Nervous System with Glycolipid Deficiencies.Advances in neurobiology · 2023Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
background and purposePathogenic variants in
methodsWhole-exome sequencing (WES) was used to identify the causative factors and characterize the clinical features of a Korean family with sensorimotor polyneuropathy. Functional assessment of the mutant genes was performed using a motor neuron cell line.
resultsThe WES revealed a compound heterozygous pathogenic variant (c.128dupC and c.451G>A) in
conclusionsThis study is the first to identify a case of autosomal recessive axonal CMT associated with a compound heterozygous pathogenic variant in
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Registered trials
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