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

Association between survivor motor neuron 2 (SMN2) gene homozygous deletion and sporadic lower motor neuron disease in a Korean population.

Annals of clinical and laboratory science - 1 Jan 2010

Kim Juwon, Lee Sang-Guk, Choi Young-Chul, Kang Seong-Woong, Lee Jun-Beom, Choi Jong Rak, Lee Kyung A

Abstract excerpt

The association between survivor motor neuron (SMN) gene deletions and motor neuron diseases such as spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS) suggest that sporadic lower motor neuron disease (LMND) may be related to SMN gene deletion. We examined the association between copy numbers of SMN and the risk of LMND among Koreans. We genotyped the copy number of SMN1 and SMN2 in 18 patients...

Read the complete abstract on PubMed

Topics

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

Share to Asian People
Share to Gene Deletion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Dosage

Share to Homozygote

Share to Motor Neuron Disease

Share to Republic of Korea

Share to Survival of Motor Neuron 1 Protein

Share to Survival of Motor Neuron 2 Protein

Source

Identifiers

PMID: 20947812

Genes

SMN2
SMN1

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

Association between survivor motor neuron 2 (SMN2) gene homozygous deletion and sporadic lower motor neuron disease in a Korean population.PMID 20947812Read ↗

The analysis of the association between the copy numbers of survival motor neuron gene 2 and neuronal apoptosis inhibitory protein genes and the clinical phenotypes in 40 patients with spinal muscular atrophy: Observational study.Semantic proximity Read ↗

Mutation Spectrum of the Survival of Motor Neuron 1 and Functional Analysis of Variants in Chinese Spinal Muscular Atrophy.Semantic proximity Read ↗

The frequency of SMN gene variants lacking exon 7 and 8 is highly population dependentSemantic proximity Read ↗

SMN1 gene, but not SMN2, is a risk factor for sporadic ALS.Semantic proximity Read ↗

SMN1 gene duplications are associated with sporadic ALS.Semantic proximity Read ↗

Modification of phenotype by SMN2 copy numbers in two Chinese families with SMN1 deletion in two continuous generations.Semantic proximity Read ↗

Quantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in Korean population based on real-time PCR.Semantic proximity Read ↗

SMN1 duplications contribute to sporadic amyotrophic lateral sclerosis susceptibility: evidence from a meta-analysis.Semantic proximity Read ↗

Homozygous exon 7 deletion of the SMN centromeric gene (SMN2): A potential susceptibility factor for adult-onset lower motor neuron diseaseSemantic proximity Read ↗

Familial study of spinal muscular atrophy carriers with SMN1 (2+0) genotype.Semantic proximity Read ↗

The gene copy ratios of SMN1/SMN2 in Japanese carriers with type I spinal muscular atrophy.Semantic proximity Read ↗

SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS.Semantic proximity Read ↗

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