Publications by authors named "A Chaussenot"

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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, Annabelle Chaussenot

Genet Med· December 2025

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The genetic landscape of frontotemporal lobar degeneration: investigation of a diagnostic cohort of 2747 probands.
Guillaume Cogan, Marion Houot, Julie Bogoin, Sandrine Noël, Kathy Larcher, Annabelle Chaussenot

Brain· November 2025

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Digenesis in Charcot-Marie-Tooth Disease: Impact of Combined Mutations in the MFN2 and GDAP1 Genes.
Endrit Shumeri, Ebrahem Mandorah, Nathalie Martini, Amandine Boyer, Cécile Halbert, Annabelle Chaussenot

J Peripher Nerv Syst· September 2025

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De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.
Mehdi Benkirane, Marion Bonhomme, Heba Morsy, Stephanie L Safgren, Cecilia Marelli, Annabelle Chaussenot

Brain· November 2024

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Loss of heterozygosity in CCM2 cDNA revealing a structural variant causing multiple cerebral cavernous malformations.
Annabelle Chaussenot, Xavier Ayrignac, Nicolas Chatron, Terry Granchon-Riolzir, Pierre Labauge

Eur J Hum Genet· July 2024

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