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Simon Mead

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Open access Aug 2026

Exome analysis of 22,319 individuals links extremely rare copy-number variants and 22q11.21 dosage to Alzheimer risk.

It is concluded that rare coding CNVs in a proportion of AD-associated genes and 22q11.21 duplication as a strong AD-risk-decreasing factor increase AD risk and Conversely, 22q11.21 duplication as a strong AD-risk-decreasing factor is identified.

O. Quenez, Catherine Schramm, K. Cassinari et al. · 1 citation
Open access Jul 2026

Performance of Alzheimer Disease Plasma Biomarkers in Patients With Prion Diseases

This study provides Class II evidence that plasma NfL/p-tau217 discriminates patients with CJD from those with AD and Diagnosing AD with a single abnormal p-tau plasma biomarker risks misdiagnosing prion diseases as AD.

Thomas Coysh, Rhiannon Laban, Elena Veleva et al. · 0 citations

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