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

Technical standards and guidelines for spinal muscular atrophy testing.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2011

Prior Thomas W, Nagan Narasimhan, Sugarman Elaine A, Batish Sat Dev, Braastad Corey

Abstract excerpt

Spinal muscular atrophy is a common autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron (SMN1) gene, affecting approximately 1 in 10,000 live births. The disease is characterized by progressive symmetrical muscle weakness resulting from the degeneration and loss of anterior horn cells in the spinal cord and brainstem nuclei. The disease is classified on the basis of age of...

Read the complete abstract on PubMed

Topics

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

Share to Clinical Laboratory Techniques
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Dosage

Share to Genetic Testing

Share to Guidelines as Topic

Share to Muscular Atrophy, Spinal

Share to Survival of Motor Neuron 1 Protein

Share to Survival of Motor Neuron 2 Protein

Source

Identifiers

PMID: 21673580
DOI: 10.1097/GIM.0b013e318220d523

Genes

SMN1
SMN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Technical standards and guidelines for spinal muscular atrophy testing.PMID 21673580Read ↗

Spinal muscular atrophy diagnostics.Semantic proximity Read ↗

Best practice guidelines for molecular analysis in spinal muscular atrophy.Semantic proximity Read ↗

Spinal muscular atrophy: molecular genetics and diagnostics.Semantic proximity Read ↗

Spinal Muscular Atrophy: Overview of Molecular Diagnostic Approaches.Semantic proximity Read ↗

Non-SMN-linked Spinal Muscular Atrophy: From Genes to Clinical Phenotypes via Diagnostic Implications; A Systematic Review.Semantic proximity Read ↗

Spinal Muscular Atrophy: Mutations, Testing, and Clinical RelevanceSemantic proximity Read ↗

Perspectives and diagnostic considerations in spinal muscular atrophy.Semantic proximity Read ↗

Recommendations for Interpreting and Reporting Silent Carrier and Disease-Modifying Variants in SMA Testing Workflows.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 ↗

[Clinical practice guidelines for spinal muscular atrophy].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 ↗

Spinal muscular atrophy: from gene discovery to clinical trials.Semantic proximity Read ↗

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