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Karen Gaudon

École Normale Supérieure

10

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A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia

2013 PLOS ONE
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Correction: A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia

2013 PLOS ONE
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Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function

2009 American Journal of Human Genetics
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The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa.

2008 Neurology
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Towards the molecular elucidation of congenital myasthenic syndromes: identification of mutations in MuSK.

2005
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Syndromes myasthéniques congénitaux dus à des mutations du gène de la rapsyne

2004 Revue Neurologique
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Syndromes myasthniques congnitaux dus des mutations du gne de la rapsyne

2004 Revue Neurologique
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MUSK, a new target for mutations causing congenital myasthenic syndrome

2004 Human Molecular Genetics
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Citations (166)