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

The role of the SMN gene in proximal spinal muscular atrophy.

Human molecular genetics - 1 Jan 1998

Lefebvre S, Bürglen L, Frézal J, Munnich A, Melki J

Abstract excerpt

Childhood spinal muscular atrophy (SMA) is a common recessive autosomal disorder that results in degeneration of lower motor neurons. The identification of the disease gene, Survival of Motor Neuron (SMN), was a major advance in understanding the molecular basis underlying this devastating neuromuscular disease. This finding has greatly improved the genetic counselling of SMA families. Recently, biochemical...

Read the complete abstract on PubMed

Topics

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

Share to Infant
Share to Infant, Newborn
Share to Mutation

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

Share to Nerve Tissue Proteins

Share to Phenotype

Share to RNA-Binding Proteins

Share to RNA Processing, Post-Transcriptional

Source

Identifiers

PMID: 9735373
DOI: 10.1093/hmg/7.10.1531

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

The role of the SMN gene in proximal spinal muscular atrophy.PMID 9735373Read ↗

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

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

Pathogenesis of proximal autosomal recessive spinal muscular atrophy.Semantic proximity Read ↗

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

What Genetics Has Told Us and How It Can Inform Future Experiments for Spinal Muscular Atrophy, a Perspective.Semantic proximity Read ↗

Axonal-SMN (a-SMN), a protein isoform of the survival motor neuron gene, is specifically involved in axonogenesisSemantic proximity Read ↗

Mitochondrial Dysfunction in Spinal Muscular AtrophySemantic proximity Read ↗

Pathogenesis and therapeutic targets in spinal muscular atrophy (SMA).Semantic proximity Read ↗

SMN in spinal muscular atrophy and snRNP biogenesisSemantic proximity Read ↗

Disease mechanisms and therapeutic approaches in spinal muscular atrophy.Semantic proximity Read ↗

Spinal muscular atrophies.Semantic proximity Read ↗

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

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