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Collagen XIII Is Required for Neuromuscular Synapse Regeneration and Functional Recovery after Peripheral Nerve Injury

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Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain

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Congenital myasthenic syndromes due to mutations inALG2andALG14

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Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR

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Mutations in DPAGT1 Cause a Limb-Girdle Congenital Myasthenic Syndrome with Tubular Aggregates

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Muscle-Derived Collagen XIII Regulates Maturation of the Skeletal Neuromuscular Junction

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MutationTaster evaluates disease-causing potential of sequence alterations

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Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome

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KING-DENBOROUGH SYNDROME CAUSED BY A NOVEL MUTATION IN THE RYANODINE RECEPTOR GENE

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