Author

W. Camu

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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. · Acta Neuropathologica · 0 citations

Open access Sep 2026

Data-driven identification of repurposable drugs for ALS

Amyotrophic lateral sclerosis (ALS) is a severe disease that causes thousands of deaths annually. Current treatments are either limited in effectiveness or not broadly applicable. To discover new options, we conducted a genetics-based screen to identify drugs that could be repurposed for ALS. We analyzed genome-wid...

S. Saez-Atienzar, Luis A. Rojas-Colón, Ruth Chia et al. · npj Digital Medicine · 0 citations