A. Ben Ammar

Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7

D. Orlikowski, L. Viollet, B. Eymard, 2010, Journal of Neurology.

A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia

L. Schaeffer, E. Goillot, A. Taly, 2013, PloS one.

Identification of an agrin mutation that causes congenital myasthenia and affects synapse function.

A. Chaboud, L. Schaeffer, E. Goillot, 2009, American journal of human genetics.

Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing

B. Eymard, F. Bouhour, P. Richard, 2010, Journal of Medical Genetics.