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Author

J. Bras

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Open access Sep 2026

Exploring cerebral small vessel disease signatures in familial Parkinson’s disease

Familial Parkinson’s disease (PD) and vascular parkinsonism (VP) present overlapping features and may co-exist. To investigate whether PD and VP may share a potential pathogenic link and to what extent white matter hyperintensities may influence PD phenotype, we used the modified Scheltens scale and presented a descrip...

Bigyan Mahat, Bimala Malla, Marco Foddis et al. · 0 citations
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

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