Author

Isabelle Marty

InsermORCID 0000-0003-3625-913XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:experimental assay· 3 Organism:human· 2 Organism:mouse· 2 Research Focus:cell type annotation· 1 Assay:CRISPR screen· 1 Research Focus:differential expression· 1 Research Focus:drug response / drug discovery· 1 Assay:proteomics· 1

Frequent Co-Authors

Julien FauréiD· 3 shared John RenduiD· 2 shared Julie BrocardiD· 2 shared Mathilde BeaufilsiD· 2 shared Norma Beatriz RomeroiD· 2 shared Aïda B Fall· 1 shared Amy LeeiD· 1 shared Anne PetiotiD· 1 shared

Activity by Year

2020-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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3 shared papersNeuroscience

Julien FauréORCID

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3 papers

Recent·Most cited

GeneticsbioRxivPreprintJun 22, 2026

CACNA2D4 variants are associated with exertional heat stroke susceptibility

Clara Charpentier, Aïda B Fall, Juan de la Rosa Vázquez…·Julien Fauré

The paper identifies CACNA2D4 variants associated with exertional heat stroke susceptibility and shows their impact on calcium signaling in skeletal muscle.

DOI 10.64898/2026.01.28.702251

mouseexperimental assay

𝕏 PostBluesky

NeuroscienceMolecular Therapy — Nucleic AcidsPeer-reviewedJun 17, 2024

Functional benefit of CRISPR/Cas9-induced allele deletion for RYR1 dominant mutation

Mathilde Beaufils, Margaux Melka, Julie Brocard…·Isabelle Marty

This study demonstrates the functional benefit of deleting a dominant RYR1 mutation using CRISPR/Cas9 in patient-derived muscle cells.

6 citations

humanCRISPR screen

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NeuroscienceActa Neuropathologica CommunicationsPeer-reviewedNov 11, 2020

In vivo RyR1 reduction in muscle triggers a core-like myopathy

Laurent Pelletier, Anne Petiot, Julie Brocard…·Isabelle Marty

This study shows that reducing RyR1 in mice causes muscle weakness, atrophy, and structural changes similar to Central Core Disease.

23 citations

mousehuman

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