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Article

Spectrum of neuropathophysiology in spinal muscular atrophy type I.

Journal of neuropathology and experimental neurology - 1 Jan 2015

Harding Brian N, Kariya Shingo, Monani Umrao R, Chung Wendy K, Benton Maryjane, Yum Sabrina W, Tennekoon Gihan, Finkel Richard S

Abstract excerpt

Neuropathologic findings within the central and peripheral nervous systems in patients with spinal muscular atrophy type I (SMA-I) were examined in relation to genetic, clinical, and electrophysiologic features. Five infants representing the full clinical spectrum of SMA-I were examined clinically for compound motor action potential amplitude and SMN2 gene copy number; morphologic analyses of postmortem central...

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Source

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Identifiers

PMID: 25470343
DOI: 10.1097/NEN.0000000000000144
PMCID: PMC4350580

Genes

SMN2

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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