Biography
Molecular basis of spinocerebellar diseases: causes and modifying factors.
Publications
Méreaux J-L, Davoine C-S, Pellerin D, Coarelli G, Coutelier M, Ewenczyk C, Monin M-L, Anheim M, Le Ber I, Thobois S, Gobert F, Guillot-Noël L, Forlani S, Jornea L, Heinzmann A, Sangare A, Gaymard B, Guyant-Maréchal L, Charles P, Marelli C, Honnorat J, Degos B, Tison F, Sangla S, Simonetta-Moreau M, Salachas F, Tchikviladzé M, Castelnovo G, Mochel F, Klebe S, Castrioto A, Fenu S, Méneret A, Bourdain F, Wandzel M, Roth V, Bonnet C, Riant F, Stevanin G, Noël S, Fauret-Amsellem A-L, Bahlo M, Lockhart PJ, Brais B, Renaud M, Brice A, Durr A (2023) Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions. EBioMedicine. https://doi.org/10.1016/j.ebiom.2023.104931
Méreaux J-L, Davoine C-S, Coutelier M, Guillot-Noël L, Castrioto A, Charles P, Coarelli G, Ewenczyk C, Klebe S, Heinzmann A, Méneret A, Fauret-Amsellem A-L, de Sainte Agathe J-M, Brice A, Durr A (2023) Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes. J Med Genet. https://doi.org/10.1136/jmg-2022-108924
Méreaux J-L, Banneau G, Papin M, Coarelli G, Valter R, Raymond L, Kol B, Ariste O, Parodi L, Tissier L, Mairey M, Ait Said S, Gautier C, Guillaud-Bataille M, French SPATAX clinical network, Forlani S, de la Grange P, Brice A, Vazza G, Durr A, Leguern E, Stevanin G (2022) Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia. Brain. https://doi.org/10.1093/brain/awab386
Méreaux J-L, Firanescu C, Coarelli G, Kvarnung M, Rodrigues R, Pegoraro E, Tazir M, Taithe F, Valter R, Huin V, Lidström K, Banneau G, Morais S, Parodi L, Coutelier M, Papin M, Svenningsson P, Azulay J-P, Alonso I, Nilsson D, Brice A, Le Guern E, Press R, Vazza G, Loureiro JL, Goizet C, Durr A, Paucar M, Stevanin G (2021) Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations. Neurogenetics. https://doi.org/10.1007/s10048-020-00633-2