Publications by authors named "E Bieth"

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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, Eric Bieth

Genet Med· December 2025

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XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches.
Silvestre Cuinat, Nicolas Chatron, Florence Petit, Perrine Brunelle, Etienne Dincuff, Eric Bieth

Eur J Hum Genet· July 2025

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Repeat Expansions with Small TTTCA Insertions in MARCHF6 Cause Familial Myoclonus without Epilepsy.
Theresa Kühnel, Elsa Leitão, Renate Lunzer, Fabian Kilpert, Sabine Kaya, Eric Bieth

Mov Disord· July 2025

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Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients.
Hortense Thomas, Tom Alix, Émeline Renard, Mathilde Renaud, Justine Wourms, Éric Bieth

J Med Genet· August 2024

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Molecular mechanisms of perilipin protein function in lipid droplet metabolism.
Elena Griseti, Abdoul Akim Bello, Eric Bieth, Bayane Sabbagh, Jason S Iacovoni

FEBS Lett· May 2024

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