Charlotte Dupé

Phenotypic variability in 446 CADASIL patients: Impact of NOTCH3 gene mutation location in addition to the effects of age, sex and vascular risk factors

H. Chabriat, S. Chevret, E. Jouvent, 2022, Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism.

Macroglossia: A potentially severe complication of late‐onset Pompe disease

R. Carlier, D. Hamroun, P. Laforêt, 2022, European Journal of Neurology.