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Author

Susana Boluda

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Open access Sep 2026

Familial, neuropathological and cellular analysis identify ARPP21 as a major amyotrophic lateral sclerosis associated gene in French cohorts

ARPP21 has recently emerged as a new amyotrophic lateral sclerosis (ALS) associated gene but its pathogenic role remains unclear. In this study we performed familial, clinical, neuropathological and cellular analyses to characterize the recurrent p.P529L and p.P713L variants (also known as p.P563L variant and p.P747L v...

Sibylle de Bertier, M. Amador, C. Guissart et al. · 0 citations
Open access Aug 2026

Amplification of seeding-competent tau aggregates by PMCA in human and experimental tauopathies

Tau assemblies, associated with tauopathies, are believed to self-propagate through prion-like mechanisms in the central nervous system, driving neurodegeneration. Recently, protein seed amplification assays have emerged as highly sensitive methods for detecting trace amounts of misfolded protein assemblies across vari...

Florian Almela, M. Bélondrade, R. Caillierez et al. · 0 citations

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