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 the SMN2 gene copy number and clinical characteristics of patients with spinal muscular atrophy with homozygous deletion of exon 7 of the SMN1 gene.

Vojnosanitetski pregled - 1 Oct 2015

Zarkov Marija, Stojadinović Aleksandra, Sekulić Slobodan, Barjaktarović Iva, Perić Stojan, Keković Goran, Drasković Biljana, Stević Zorica

Abstract excerpt

BACKGROUND/AIM: Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by degeneration of alpha motor neurons in the spinal cord and the medulla oblongata, causing progressive muscle weakness and atrophy. The aim of this study was to determine association between the SMN2 gene copy number and disease phenotype in Serbian patients with SMA with homozygous deletion of exon 7 of the SMN1 gene....

Read the complete abstract on PubMed

Topics

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

Share to Medulla Oblongata
Share to Motor Activity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Motor Neurons

Share to Serbia

Share to Spinal Cord

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: 26665550
DOI: 10.2298/vsp140328072z

Genes

SMN2
SMN1

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

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.PMID 26665550Read ↗

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

Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophySemantic 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 ↗

Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative DiseasesSemantic proximity Read ↗

Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases.Semantic proximity Read ↗

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

Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controlsSemantic proximity Read ↗

The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy.Semantic proximity Read ↗

Combination of SMN2 copy number and NAIP deletion predicts disease severity in spinal muscular atrophy.Semantic proximity Read ↗

Discrepancy in redetermination of SMN2 copy numbers in children with SMASemantic proximity Read ↗

Genomic analysis of the SMN1 gene region in patients with clinically diagnosed spinal muscular atrophy: a retrospective observational studySemantic proximity Read ↗

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

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