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GFPT1-myasthenia

Neurology | June 22, 2013 | Volume: 81 | Issue: 4 | Pages: 370-378

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Highly fatal fast-channel syndrome caused by AChR ɛ subunit mutation at the agonist binding site

Neurology | May 17, 2012 | Volume: 79 | Issue: 5 | Pages: 449-454

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Are MuSK antibodies the primary cause of myasthenic symptoms?

Neurology | May 14, 2012 | Volume: 62 | Issue: 11 | Pages: 1945-1950

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Congenital myasthenic syndrome caused by low-expressor fast-channel AChR δ subunit mutation

Neurology | May 13, 2012 | Volume: 59 | Issue: 12 | Pages: 1881-1888

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Three novel COLQ mutations and variation of phenotypic expressivity due to G240X

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Myasthenic syndrome due to defects in rapsyn

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Novel congenital myasthenic syndromes associated with defects in quantal release

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