Author

Maria del Mar Amador

Centre National de la Recherche ScientifiqueORCID 0000-0003-2667-0785Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Assay:bulk RNA-seq· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Approach:statistical model· 1

Frequent Co-Authors

François Salachas· 2 shared Gaëlle BruneteauiD· 2 shared Isabelle Le BeriD· 2 shared Allyson Hinks· 1 shared Anthony BéhiniD· 1 shared Audrey Rapinat· 1 shared Baptiste PeriouiD· 1 shared Bertrand FontaineiD· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

François Salachas

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintOct 7, 2026

Somatic instability of the C9orf72 repeat expansion in blood differs between patients with amyotrophic lateral sclerosis or frontotemporal dementia.

Mathieu Barbier, Mounir Ichalalen, Maria del Mar Amador…·Isabelle Le Ber

This study uses optical genome mapping to analyze C9orf72 repeat expansion instability in blood from ALS and FTD patients, finding age-dependent differences in repeat size dynamics between conditions.

DOI 10.64898/2026.10.06.26364580

humanDNA methylation

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NeurosciencebioRxivPreprintDec 17, 2025

Progressive muscle metabolic reprogramming in asymptomatic ALS gene mutation carriers

Céline Buon, Dimitrije Milunov, Delphine Sapaly…·Gaëlle Bruneteau

Skeletal muscle from individuals at elevated genetic risk for ALS/FTD undergoes progressive metabolic reprogramming far before disease onset.

1 citation

humanbulk RNA-seq

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