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Article

Spinal muscular atrophy: untangling the knot?

Journal of medical genetics - 1 Jan 1999

Biros I, Forrest S

Abstract excerpt

Spinal muscular atrophy (SMA), a clinically and genetically heterogeneous group of neuromuscular diseases, is a disorder of motor neurones characterised by degeneration of spinal cord anterior horn cells and muscular atrophy. SMA is an autosomal recessive disorder with a carrier frequency of about 1150. Three candidate genes, the survival motor neurone (SMN) gene, the neuronal inhibitory protein (NAIP) gene, and...

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Identifiers

PMID: 9950358
PMCID: PMC1762953

Genes

NAIP

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.

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Spinal muscular atrophy: untangling the knot?PMID 9950358Read ↗

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Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease.Semantic proximity Read ↗

Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype.Semantic proximity Read ↗

An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA).Semantic proximity Read ↗

Structure and Organization of the Human Survival Motor Neurone (SMN) GeneSemantic proximity Read ↗

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The molecular bases of spinal muscular atrophy.Semantic proximity Read ↗

Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients.Semantic proximity Read ↗

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