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'Outcomes of genetic testing in the London MND Center: the importance of achieving timely results and correlations to family history'.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Nov 2024

Spencer Dean, Polke James, Campbell Joanna, Houlden Henry, Radunovic Aleksandar

Abstract excerpt

Background: Despite recognition of the importance of genetic factors in the pathogenesis of MND and the increasing availability of genetic testing, testing practice remains highly variable. With the arrival of gene-targeted therapies there is a growing need to promptly identify actionable genetic results and patient death before receipt of results raises ethical dilemmas and limits access to novel therapies....

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Identifiers

PMID: 38932488
DOI: 10.1080/21678421.2024.2370808

Genes

SOD1

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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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