Publications by authors named "C Hersent"

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Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxia.
Mehdi Benkirane, Cecilia Marelli, Ariane Choumert, Cyril Goizet, Olivier Patat, Clément Hersent

Genet Med· December 2025

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Visual Inspection of Sequencing Data for Diagnosis: Practical Guide to Structural Variant Analysis Using Integrative Genomics Viewer (IGV).
Benjamin Ganne, Clément Hersent, Vincent Gatinois, Franck Pellestor, Kevin Yauy

Methods Mol Biol· August 2025

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AP4B1 hypomorphic variants cause autosomal recessive adult-onset ataxia.
Quentin Sabbagh, Natalia Hernandez Poblete, Chloé Angelini, Clément Hersent, Mehdi Benkirane

J Neurol· January 2025

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Phenotypic variability related to dominant UCHL1 mutations: about three families with optic atrophy and ataxia.
C Marelli, F Ramond, C Vignal, C Blanchet, S Frost, C Hersent

J Neurol· September 2024

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Residual risk of Pseudomonas aeruginosa waterborne contamination in an intensive care unit despite the presence of filters at all water points-of-use.
G Royer, M Virieux-Petit, F Aujoulat, C Hersent, S Baranovsky

J Hosp Infect· July 2024

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