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Article

[From gene to disease; 'survival' motor neuron protein and hereditary proximal spinal muscle atrophy].

Nederlands tijdschrift voor geneeskunde - 29 Dec 2001

Cobben J M, de Visser M, Scheffer H

Abstract excerpt

The majority of patients with hereditary proximal spinal muscular atrophy (SMA) have a homozygous deletion of the survival motor neuron gene (SMN1). The number of SMN2 gene copies modifies the phenotype, which ranges from a lethal infantile disorder to an adult-onset disease causing mild impairment and disability. The SMN protein plays a role in an apparently essential cell metabolism process, the splicing of...

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Source

Identifiers

PMID: 11793827

Genes

SMN1
SMN2

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

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[From gene to disease; 'survival' motor neuron protein and hereditary proximal spinal muscle atrophy].PMID 11793827Read ↗

An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)Semantic proximity Read ↗

[Spinal muscular atrophy: SMN protein deficiency].Semantic proximity Read ↗

An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).Semantic proximity Read ↗

The Biochemistry of Survival Motor Neuron Protein Is Paving the Way to Novel Therapies for Spinal Muscle Atrophy.Semantic proximity Read ↗

Perspectives and diagnostic considerations in spinal muscular atrophy.Semantic 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 ↗

Spinal muscular atrophy: a deficiency in a ubiquitous protein; a motor neuron-specific disease.Semantic proximity Read ↗

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

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

[Quantitative analysis of the genes determining spinal muscular atrophy].Semantic proximity Read ↗

Splicing of the Survival Motor Neuron genes and implications for treatment of SMASemantic proximity Read ↗

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

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