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Article

Detection of the survival motor neuron (SMN) genes by FISH: further evidence for a role for SMN2 in the modulation of disease severity in SMA patients.

Human molecular genetics - 1 Dec 1999

Vitali T, Sossi V, Tiziano F, Zappata S, Giuli A, Paravatou-Petsotas M, Neri G, Brahe C

Abstract excerpt

Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder which presents with various clinical phenotypes ranging from severe to very mild. All forms are caused by the homozygous absence of the survival motor neuron ( SMN1 ) gene. SMN1 and a nearly identical copy ( SMN2...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10556301
DOI: 10.1093/hmg/8.13.2525

Genes

SMN2
SMN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-10556301-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Detection of the survival motor neuron (SMN) genes by FISH: further evidence for a role for SMN2 in the modulation of disease severity in SMA patients.PMID 10556301Read ↗

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

Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development.Semantic proximity Read ↗

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

Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease severity.Semantic proximity Read ↗

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

Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibitionSemantic proximity Read ↗

Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALSSemantic proximity Read ↗

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

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

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

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

Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy.Semantic proximity Read ↗

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