Journal of Neurology, Neurosurgery, and Psychiatry

PABPN1 pathogenic expansion in the UK Biobank: reframing genetic prevalence of oculopharyngeal muscular dystrophy

By Chiara Villella, Delia Gagliardi, Enrico Sebastiani, Dario Ronchi

Cohort study of 470,000 peoplePopulations

Humans

The paper

Chiara Villella, Delia Gagliardi, Enrico Sebastiani, Dario Ronchi

University of Milan

Journal of Neurology, Neurosurgery, and Psychiatry, 30 Sep 2026

doi.org/10.1136/jnnp-2026-339153 PubMed 42816172

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