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

Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos

2 Sept 1997

Abstract excerpt

Proximal spinal muscular atrophy is an autosomal recessive human disease of spinal motor neurons leading to muscular weakness with onset predominantly in infancy and childhood. With an estimated heterozygote frequency of 1/40 it is the most common monogenic disorder lethal to infants; milder forms represent the second most common pediatric neuromuscular disorder. Two candidate genes-survival motor neuron (SMN)...

Read the complete abstract on PubMed

Topics

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

Share to Cancer-related gene regulation
Share to Neurogenetic and Muscular Disorders Research
Share to RNA modifications and cancer

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 9275227
DOI: 10.1073/pnas.94.18.9920

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryosPMID 9275227Read ↗

Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals.Semantic proximity Read ↗

Survival motor neuron protein modulates neuron-specific apoptosisSemantic proximity Read ↗

Animal models of spinal muscular atrophy.Semantic proximity Read ↗

Genetic circuitry of Survival motor neuron, the gene underlying spinal muscular atrophy.Semantic proximity Read ↗

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

Reduced survival motor neuron (Smn) gene dose in mice leads to motor neuron degeneration: an animal model for spinal muscular atrophy type IIISemantic 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 ↗

Neuron-specific knock-down of SMN1 causes neuron degeneration and death through an apoptotic mechanism.Semantic proximity Read ↗

Neuronal-Specific Roles of the Survival Motor Neuron ProteinSemantic proximity Read ↗

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

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

The role of the SMN gene in proximal spinal muscular atrophy.Semantic proximity Read ↗

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