Thierry Billette de Villemeur

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Klaus Lehnert, Holger Lerche, Annapurna Poduri, 2018, American journal of human genetics.

Long-term Follow-up and Outcome of Phenylketonuria Patients on Sapropterin: A Retrospective Study

Nenad Blau, Roberto Cerone, N. Blau, 2013, Pediatrics.

Quality of life in patients with locked-in syndrome: Evolution over a 6-year period

Pascal Auquier, M. Alessandrini, K. Baumstarck, 2015, Orphanet Journal of Rare Diseases.