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Article

Genotypes and phenotypes of motor neuron disease: an update of the genetic landscape in Scotland.

Journal of neurology - 1 Aug 2024

Leighton Danielle J, Ansari Morad, Newton Judith, Cleary Elaine, Stephenson Laura, Beswick Emily, Carod Artal Javier, Davenport Richard, Duncan Callum, Gorrie George H, Morrison Ian, Swingler Robert, Deary Ian J, Porteous Mary, Chandran Siddharthan, Pal Suvankar

Abstract excerpt

BACKGROUND: Using the Clinical Audit Research and Evaluation of Motor Neuron Disease (CARE-MND) database and the Scottish Regenerative Neurology Tissue Bank, we aimed to outline the genetic epidemiology and phenotypes of an incident cohort of people with MND (pwMND) to gain a realistic impression of the genetic landscape and genotype-phenotype associations. METHODS: Phenotypic markers were identified from the...

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Identifiers

PMID: 38852112
DOI: 10.1007/s00415-024-12450-w
PMCID: PMC11319561

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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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