Title : Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies - Dohrn_2017_J.Neurochem_143_507
Title : Severe congenital myasthenic syndrome due to homozygosity of the 1293insG epsilon-acetylcholine receptor subunit mutation - Sieb_2000_Ann.Neurol_48_379