Author

M. Martin-Négrier

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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

Genome sequencing improves diagnostic outcomes over panel and exome sequencings in myopathies: findings from the French PFMG2025 initiative

Genome Sequencing showed GS as a valuable and feasible approach allowing the elucidation of complex variants and the discovery of new pathogenic mechanisms in the context of myopathy, as part of a large national scale GS strategy piloted by the French Genomic Medicine Initiative.

Camille Verebi, A. Maino, C. Métay et al. · Genome Medicine · 0 citations

Review Open access Aug 2026

Primary Mitochondrial-Disorders-Associated Nephropathy in Adulthood

Advances in next-generation sequencing, including mitochondrial genome sequencing and exome or whole-genome sequencing, are transforming the diagnostic approach to MIDAN, and improved recognition of mitochondrial etiologies in adults with unexplained glomerular or tubulo-interstitial kidney disease is essential to opti...

Hugo Bakis, A. Trimouille, Maximilian Schwarz et al. · Kidney International Reports · 0 citations