V. Alexeev

Gentamicin induces LAMB3 nonsense mutation readthrough and restores functional laminin 332 in junctional epidermolysis bullosa

M. De Luca, L. De Rosa, Mei Chen, 2018, Proceedings of the National Academy of Sciences.

Autosomal Dominant Spinocerebellar Ataxia (SCA) in a Siberian Founder Population: Assignment to the SCA1 Locus

D. Gajdusek, F. Platonov, G. Auburger, 1994, Experimental Neurology.

Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1

V. Kipnis, D. Gajdusek, L. Goldfarb, 1996, Annals of neurology.