Ricardo A. Maselli

Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb‐girdle myasthenia

Q. Yi, J. Stajich, Ricardo A Maselli, 2014, Clinical genetics.

Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE

T. Mozaffar, Ricardo A Maselli, J. Arredondo, 2011, Clinical genetics.

LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z−) agrin

V. Yarov-Yarovoy, R. Maselli, R. Wollmann, 2012, Human Genetics.

Presynaptic congenital myasthenic syndrome due to quantal release deficiency

D. Richman, C. Gomez, R. Maselli, 2001, Neurology.