Pyrostigmine therapy in a patient with VAMP1-related congenital myasthenic syndrome

Ensembl variation resources

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The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

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Mutations in NALCN Cause an Autosomal-Recessive Syndrome with Severe Hypotonia, Speech Impairment, and Cognitive Delay

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How common is childhood myasthenia? The UK incidence and prevalence of autoimmune and congenital myasthenia

Jeremy Parr, M Andrew, Michael W. Finnis et al. · Archives of Disease in Childhood · 2014 · 120 citations

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<i>ISCA2</i> mutation causes infantile neurodegenerative mitochondrial disorder

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