Sampaolo S et al. Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix. J Med Genet. 2017;54(10):710-720.  PMID: 28735299.

Napolitano F et al. Early posterior vitreous detachment is associated with LAMA5 dominant mutation. Ophthalmic Genet. 2018;27:1-4.  PMID: 30589377.

Liguori S et al. Musculoskeletal impairment and functional limitations in a patient affected by mutation in the laminin α-5 gene. Funct. Neurol. 2018;33(2):117-118.  PMID: 29984690.

Maselli RA 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. 2017;173(8):2240-2245.  PMID: 28544784.

Maselli RA et al. A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5. Ann N Y Acad Sci. 2018;1413(1):119-125.  PMID: 29377152.