Stéphanie Bauché
Université Pierre et Marie Curie
37 papers found
Refreshing results…
New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes
Download from doi.orgAgrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy
Download from doi.orgCorrection: A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia
Download from dx.doi.orgA Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia
Download from dx.doi.orgGenome-Wide Association Study of Multiplex Schizophrenia Pedigrees
Download from doi.orgLong-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations
Download from serval.unil.chMuscle inactivation of mTOR causes metabolic and dystrophin defects leading to severe myopathy
Download from doi.orgIdentification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function
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