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Article

Pathogenesis of proximal autosomal recessive spinal muscular atrophy.

Acta neuropathologica - 1 Sept 2008

Simic Goran

Abstract excerpt

Although it is known that deletions or mutations of the SMN1 gene on chromosome 5 cause decreased levels of the SMN protein in subjects with proximal autosomal recessive spinal muscular atrophy (SMA), the exact sequence of pathological events leading to selective motoneuron cell death is not full...

Read the complete abstract on PubMed

Topics

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Share to Chromosomes, Human, Pair 5
Share to Cyclic AMP Response Element-Binding Protein
Share to Genes, Recessive

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Motor Neurons

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Share to SMN Complex Proteins

Share to Spinal Muscular Atrophies of Childhood

Share to Survival of Motor Neuron 1 Protein

Source

Identifiers

PMID: 18629520
DOI: 10.1007/s00401-008-0411-1

Genes

SMN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18629520-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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