Items where Author is "Muntoni, F."
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Number of items: 3.
(2021) An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy. Brain. pp. 584-600. ISSN 0006-8950
(2016) Clinical features of the myasthenic syndrome arising from mutations in GMPPB. Journal of Neurology Neurosurgery and Psychiatry. pp. 802-809. ISSN 0022-3050
(2015) Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. Brain. pp. 2493-2504. ISSN 0006-8950