After several internships and seasonal vacations during my studies, I joined the team of Professor Bertrand Fontaine and Professor Laure Strochlic in 2019 as a study engineer. Within the framework of the team's research projects, I carry out the study of the neuromuscular junction in pre-symptomatic studies in patients with Amyotrophic Lateral Sclerosis (ALS) as well as the pathophysiological characterization of mutations involved in congenital myasthenic syndromes (CMS).
- Bauché, S, O'Regan, S, Azuma, Y, Laffargue, F, McMacken, G, Sternberg, D et al.. Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea. Am J Hum Genet. 2016;99 (3):753-761. doi: 10.1016/j.ajhg.2016.06.033. PubMed PMID:27569547 PubMed Central PMC5011057.