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Author

Roberta Ghidoni

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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 Aug 2026

Educational attainment and sex modulate clinical outcomes in genetic frontotemporal dementia

Sex and educational attainment significantly affect the development and maintenance of cognitive reserve in individuals with genetic FTD, and underscore the importance of identifying disease-modifying interventions since the presymptomatic stages of the disease.

E. Premi, Damiano Archetti, A. Redolfi et al. · 0 citations

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