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 of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Mar 2012

Amara Abdelbasset, Adala Labiba, Ben Charfeddine Ilhem, Mamaï Ons, Mili Amira, Lazreg Taheni Ben, H'mida Dorra, Amri Fathi, Salem Najla, Boughammura Lamia, Saad Ali, Gribaa Moez

Abstract excerpt

OBJECTIVES: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder which is characterized by a high clinical variability with severe, intermediate, mild and adult forms. These forms are caused, in 95% of cases, by a homozygous deletion of exon 7 of SMN1 gene. Our purpose was the determination of a possible genotype-phenotype correlation between the copy number of SMN2, NAIP, p44, H4F5 and...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomes, Human, Pair 5
Share to Multiplex Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Occludin

Share to Spinal Muscular Atrophies of Childhood

Share to Survival of Motor Neuron 1 Protein

Share to Survival of Motor Neuron 2 Protein

Share to Telomere

Share to Tunisia

Source

Identifiers

PMID: 21821450
DOI: 10.1016/j.ejpn.2011.07.007

Genes

NAIP
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

Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients.PMID 21821450Read ↗

Retrospective analysis of spinal muscular atrophy in tunisian population: phenotypic-genotypic associations and considerations for therapeutic advancement.Semantic proximity Read ↗

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 ↗

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

Comprehensive copy number analysis of spinal muscular atrophy among the Iranian populationSemantic proximity Read ↗

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

Joint effect of the SMN2 and SERF1A genes on childhood-onset types of spinal muscular atrophy in Serbian patients.Semantic proximity Read ↗

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

Spectrum of Phenotypes in SMA Patients With 4 SMN2 Copies in the French PopulationSemantic proximity Read ↗

Investigation on the Effects of Modifying Genes on the Spinal Muscular Atrophy PhenotypeSemantic proximity Read ↗

Molecular Factors Involved in Spinal Muscular Atrophy Pathways as Possible Disease-modifying CandidatesSemantic proximity Read ↗

Copy number analysis in a large-scale study of spinal muscular atrophy patients between two continuous generations in IranSemantic proximity Read ↗

Molecular Analysis of SMN2, NAIP and GTF2H2 Gene Deletions and Relation with Clinical Subtypes of Spinal Muscular AtrophySemantic proximity Read ↗

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