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Author

C. Guissart

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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 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. · 0 citations
Open access Sep 2026

Pathogenic NLGN4X variants reveal dual roles in synaptic connectivity and cortical development

Neuroligins are synaptic adhesion molecules important for neurodevelopment, and rare, highly penetrant variants underlie neurodevelopmental disorders (NDDs). Here, we characterize a rare missense variant NLGN4X G243R identified in a pedigree with NDDs and associated with severe protein trafficking deficits. NLGN4X G2...

E. Hong, Miriam Reyes Mendez, C. Guissart et al. · 0 citations
Open access Aug 2026

Towards routine genetic testing of repeat expansions in neurogenetic diseases using multiplex CRISPR-Cas9-targeted long read sequencing

This work evaluated CRISPR-Cas9-mediated target enrichment coupled to Oxford Nanopore Technologies (ONT) long read sequencing, to accelerate and improve the time-consuming molecular diagnosis of repeat expansion disorders.

P. Fergelot, C. Boury, B. Penaud et al. · 0 citations

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