Profile

Céline Buon

Research Assistant

Céline Buon
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Titles and positions

Research Assistant

Expertises

  • molecular biology
  • biochemistry
  • immunohistology
  • bacteriology

Presentation

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).

Main publications

  1. 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.
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