Publications

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Author Title [ Year(Asc)]
Filters: Author is Maselli, Ricardo A and Keyword is Myasthenic Syndromes, Congenital  [Clear All Filters]
2018
Maselli, R. A. et al. A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5. Ann N Y Acad Sci 1413, 119-125 (2018).
2017
Maselli, R. A. et al. Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission. Am J Med Genet A 173, 2240-2245 (2017).