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

Correlation between genotype and phenotype in Korean patients with spinal muscular atrophy.

Molecules and cells - 28 Feb 2001

Cho K, Ryu K, Lee E, Won S, Kim J, Yoo O J, Hahn S

Abstract excerpt

The goal of this study was to define the correlation between genotype and phenotype in Korean patients with spinal muscular atrophy (SMA). The SMA can be classified into three groups based on the age of onset and the clinical course. The candidate genes, survival motor neuron (SMN) gene, neuronal apoptosis inhibitory protein (NAIP) gene, and p44 gene were mapped and duplicated with telomeric and centromeric. The...

Read the complete abstract on PubMed

Topics

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

Share to Cyclic AMP Response Element-Binding Protein
Share to Gene Conversion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Dosage

Share to Motor Neurons

Share to RNA-Binding Proteins

Share to SMN Complex Proteins

Share to Spinal Muscular Atrophies of Childhood

Source

Identifiers

PMID: 11266116

Genes

NAIP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Correlation between genotype and phenotype in Korean patients with spinal muscular atrophy.PMID 11266116Read ↗

Molecular analysis of SMN, NAIP and P44 genes of SMA patients and their families.Semantic proximity Read ↗

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 ↗

NAIP Gene Deletion and SMN2 Copy Number as Molecular Tools in Predicting the Severity of Spinal Muscular Atrophy.Semantic proximity Read ↗

Genetic pattern of SMN1, SMN2, and NAIP genes in prognosis of SMA patientsSemantic proximity Read ↗

Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients.Semantic proximity Read ↗

Insights into genotype-phenotype correlations in spinal muscular atrophy: a retrospective study of 103 patients.Semantic proximity Read ↗

Gene deletion patterns in spinal muscular atrophy patients with different clinical phenotypes.Semantic proximity Read ↗

Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype.Semantic proximity Read ↗

Genotype-phenotype correlation of SMN locus genes in spinal muscular atrophy patients from India.Semantic proximity Read ↗

Correlation Between Neuronal Apoptosis Inhibitory Protein (NAIP), SMN2, and SMA Phenotypes: A Tertiary Care Centre Experience From India.Semantic proximity Read ↗

SMN(T) and NAIP mutations in Canadian families with spinal muscular atrophy (SMA): genotype/phenotype correlations with disease severity.Semantic proximity Read ↗

Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs.Semantic proximity Read ↗

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