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Article

Effectiveness of clinical exome sequencing in adult patients with difficult-to-diagnose neurological disorders.

Acta neurologica Scandinavica - 1 Jan 2022

Sainio Markus T, Aaltio Juho, Hyttinen Virva, Kortelainen Mika, Ojanen Simo, Paetau Anders, Tienari Pentti, Ylikallio Emil, Auranen Mari, Tyynismaa Henna

Abstract excerpt

OBJECTIVES: Clinical diagnostics in adults with hereditary neurological diseases is complicated by clinical and genetic heterogeneity, as well as lifestyle effects. Here, we evaluate the effectiveness of exome sequencing and clinical costs in our difficult-to-diagnose adult patient cohort. Additionally, we expand the phenotypic and genetic spectrum of hereditary neurological disorders in Finland. METHODS: We...

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PMID: 34418069
DOI: 10.1111/ane.13522

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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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