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A diagnostic blind spot in late-onset ataxia: missed FGF14 repeat expansion after negative genome sequencing and the risk of forced diagnostic unification

Mistry, Jacob
Boca, Mihaela
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University Hospitals of Derby and Burton NHS Foundation Trust, Bristol Brain Centre, Southmead Hospital
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Date
2026-06-10
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Article
Citation
Mistry J, Boca M. A diagnostic blind spot in late-onset ataxia: missed FGF14 repeat expansion after negative genome sequencing and the risk of forced diagnostic unification. Parkinsonism Relat Disord. 2026 Jun 10:108379. doi: 10.1016/j.parkreldis.2026.108379. Epub ahead of print.
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