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

[Quantitative analysis of the genes determining spinal muscular atrophy].

Ideggyogyaszati szemle - 30 Nov 2009

Nagymihály Mariann, Herczegfalvi Agnes, Tímár László, Karcagi Veronika

Abstract excerpt

Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases, affecting approximately one in 10,000 live births and with a carrier frequency of approximately one in 35. The disease is caused by a deficiency of the ubiquitous protein survival of motor neuron (SMN), which is encoded by the SMN1 and SMN2 genes. Due to a single nucleotide polymorphism in exon 7, SMN2 produces less full-length...

Read the complete abstract on PubMed

Topics

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

Share to Diagnosis, Differential
Share to Genetic Counseling
Share to Hungary

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Muscular Atrophy, Spinal

Share to Risk Assessment

Share to Spinal Muscular Atrophies of Childhood

Share to Survival of Motor Neuron 1 Protein

Share to Survival of Motor Neuron 2 Protein

Source

Identifiers

PMID: 20025129

Genes

SMN1
SMN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Quantitative analysis of the genes determining spinal muscular atrophy].PMID 20025129Read ↗

Association between the SMN2 gene copy number and clinical characteristics of patients with spinal muscular atrophy with homozygous deletion of exon 7 of the SMN1 gene.Semantic proximity Read ↗

[Molecular basis of spinal muscular atrophy: th SMN gene].Semantic proximity Read ↗

[Quantitative analysis of SMN2 based on real-time PCR: correlation of clinical severity and SMN2 gene dosage].Semantic proximity Read ↗

[Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a reliable method for detection of non-homozygous patients with spinal muscular atrophy].Semantic proximity Read ↗

Genetic and expression studies of SMN2 gene in Russian patients with spinal muscular atrophy type II and III.Semantic proximity Read ↗

Mutation analysis of 419 family and prenatal diagnosis of 339 cases of spinal muscular atrophy in China.Semantic proximity Read ↗

Deletions in the survival motor neuron gene in Iranian patients with spinal muscular atrophy.Semantic proximity Read ↗

[Analysis of SMN1 gene partial deletion of spinal muscular atrophy based on MLPA].Semantic proximity Read ↗

[Detection of homozygous deletions in spinal muscular atrophy with genomic DNA sequencing].Semantic proximity Read ↗

[The study of the correlation between the clinical phenotype of spinal muscular atrophy and SMN2 gene copy number].Semantic proximity Read ↗

Mutation analysis of 419 family and prenatal diagnosis of 339 cases of spinal muscular atrophy in ChinaSemantic 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 ↗

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