S. Jacquemont

Fragile-X–Associated Tremor/Ataxia Syndrome (FXTAS) in Females with the FMR1 Premutation

Hagerman, R. J., Leavitt, B. R., Farzin, F., Jacquemont, S., Greco, C. M., Brunberg, J. A., ...

We describe five female carriers of the FMR1 premutation who presented with symptoms of tremor and ataxia and who received a diagnosis of definite or probable fragile-X–associated tremor/ataxia...

Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype

Faivre, L, Cormier-Daire, V, Lapierre, J, Colleaux, L, Jacquemont, S, Genevieve, D, ...

Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations

Le Caignec, C, Boceno, M, Saugier-Veber, P, Jacquemont, S, Joubert, M, David, A, ...

Background: Malformations are a major cause of morbidity and mortality in full term infants and genomic imbalances are a significant component of their aetiology. However, the causes of defects in...

Spastic paraparesis, cerebellar ataxia, and intention tremor: a severe variant of FXTAS?

Jacquemont, S, Orrico, A, Galli, L, Sahota, P, Brunberg, J, Anichini, C, ...