Pr CHELLY Jamel

Publications


MAST1-related mega-corpus-callosum syndrome with central hypogonadism.

Sloboda N, Renard E, Lambert L, Bonnet C, Leheup B, Todosi C, Schmitt E, Feillet F, Feigerlova E, Piton A, Journeau P, Klein M, Maillard L, Chelly J, Renaud M

Eur J Med Genet. 2023 09 25;:104853

Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models.

Meziane H, Birling MC, Wendling O, Leblanc S, Dubos A, Selloum M, Pavlovic G, Sorg T, Kalscheuer VM, Billuart P, Laumonnier F, Chelly J, van Bokhoven H, Herault Y

Biomedicines. 2022 12 6;10(12):

Unravelling the etiology of sporadic late-onset cerebellar ataxia in a cohort of 205 patients: a prospective study.

Bogdan T, Wirth T, Iosif A, Schalk A, Montaut S, Bonnard C, Carre G, Lagha-Boukbiza O, Reschwein C, Albugues E, Demuth S, Landsberger H, Einsiedler M, Parratte T, Nguyen A, Lamy F, Durand H, Fahrer P, Voulleminot P, Bigaut K, Chanson JB, Nicolas G, Chelly J, Cazeneuve C, Koenig M, Bund C, Namer IJ, Kremer S, Calmels N, Tranchant C, Anheim M

J Neurol. 2022 07 23;:

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